AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Background

Multicystic dysplasia of the kidney (MCDK) is the most common cause of an abdominal mass in the newborn period and is the most common cystic malformation of the kidney in infancy. This article reviews the definition, embryology, epidemiology, etiology, pathology, clinical manifestations, associated malformations, natural history, differential diagnosis, complications, evaluation, management, and prognosis of MCDK.

Renal dysplasia is defined as abnormal metanephric differentiation. MCDK is a form of renal dysplasia characterized by the presence of multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Other terms used to describe this condition include multicystic kidney and multicystic renal dysplasia.

Pathophysiology

Embryology

The metanephric blastema forms the proximal components of the nephron from the glomerulus to the distal convoluted tubule. The ureteric bud arises from the Wolffian (mesonephric) duct and forms the distal components of the nephron, including the collecting ducts, calyces, and pelvis. The metanephric blastema is generally believed to differentiate into the renal parenchyma under the influence of the ampulla of the ureteric bud. MCDK results from an abnormal induction of the metanephric blastema by the ureteral bud. This abnormal induction might be due to a problem with the formation of the mesonephric duct, the malformation of the ureteral bud, or the degeneration of the ureteral bud at an early stage.

The ureteral bud begins its ampullary branching in the first 8-10 weeks of fetal life. MCDK results when the terminal portions of the first few ampullary divisions enlarge. The final structure of the kidney depends on the timing of the injury to the ureteral bud and on the effect of the injury on the branching of the ampulla.

Etiology

MCDK usually develops as a sporadic problem. Mendelian and chromosomal conditions and exposure to teratogens are reported causes. MCDK is reported as part of a hereditary renal dysplasia syndrome. Autosomal dominant inheritance was reported in an infant whose mother and maternal aunt had unilateral renal agenesis and whose maternal cousin had ureteropelvic junction obstruction (UPJO).¹ Autosomal dominant inheritance has also been reported in a mother and her 2 children.² MCDK has been reported in twins. MCDK is one of the urinary malformations reported in children born to mothers who ingest cocaine during pregnancy.

Course

MCDK may persist without any change, may increase in size, or may undergo spontaneous involution. Calcification may develop in persistent MCDK, particularly in adults, and has been reported as early as age 3 months.

Most cases of unilateral MCDK undergo spontaneous involution. The change may be due to resorption of the fluid within the cysts. An involution of prenatally diagnosed MCDK has been noted before birth. Some cases of prenatally diagnosed MCDK monitored prior to birth demonstrate an initial increase in size followed by involution.

The Multicystic Kidney Registry reported 260 patients with MCDK whose cases were managed nonoperatively and whose cases were followed for varying periods as long as 5 years.³ Approximately 18% of these kidneys were undetectable by age 1 year, 31% were undetectable by age 3 years, and 54% were undetectable by age 5 years. The initial ultrasonographic evidence of involution is a change in cyst distension that precedes a decrease in renal size.

Whether involution of the cysts is associated with involution of the intervening renal parenchyma is unclear. The residual parenchyma may be too small to be identified with conventional diagnostic imaging studies. In 1987, Avni et al reported a child with prenatally diagnosed MCDK who had an operation when aged 3 months without repeat ultrasonography.⁴ At surgery, neither renal tissue nor renal vasculature was found.

Frequency

International

Incidence of unilateral MCDK is reported to be 1 in 4300 live births, and the combined incidence of unilateral and bilateral MCDK is 1 in 3600 live births. Bilateral MCDK occurs in about 20% of prenatally diagnosed cases of MCDK. The left kidney is involved in 55% of cases, and the right kidney is involved in 45%.

Mortality/Morbidity

MCDK may persist without any change, may increase in size, or may undergo spontaneous involution. Calcification may develop in persistent MCDK, particularly in adults, and has been reported as early as age 3 months. Most cases of unilateral MCDK undergo spontaneous involution. Morbidity and mortality are uncommon in patients with a unilateral MCDK and a normal contralateral kidney. Morbidity and mortality may result from urinary tract infection (UTI), hypertension, or neoplasia.

Sex

A review of 14 studies that reported on 340 patients with unilateral MCDK revealed a male-to-female ratio of 1.48:1.⁵

CLINICAL

Section 3 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

History

• Most cases of multicystic dysplasia of the kidney (MCDK) are detected during fetal ultrasonography and are reported as early as 15 weeks' gestation.
• Prior to fetal ultrasonography, an abdominal mass in the flank of an otherwise healthy newborn was the most common clinical presentation of unilateral MCDK.
• In prenatally diagnosed MCDK, the abnormal kidney is palpable in only 13-22% of patients.
• The mass is usually mobile, ballotable, irregular in shape, nontender, and might transilluminate.

Physical

• MCDK is usually asymptomatic and can remain undetected into adulthood.
• Abdominal or flank pain and respiratory distress are uncommon symptoms because of the pressure effect of the abnormal kidney.
• MCDK might be discovered during an investigation for UTI, voiding dysfunction, or hypertension. MCDK may also be discovered when diagnostic imaging studies are performed to investigate a nonurinary problem.
• Bilateral MCDK usually results in stillbirth or death within the first few days of life; however, an infant with bilateral MCDK who survived for 17 days was reported.
• Bilateral MCDK is usually associated with oligohydramnios, amnion nodosum, pulmonary hypoplasia, and Potter facies.
• Infants with bilateral MCDK who survive have renal failure from birth and require dialysis from the first day of life. 

Causes

• MCDK has been reported in various syndromes, including the following:
• • 49,XXXXX syndrome: Patients with this syndrome present with hypertelorism, epicanthic folds, microcephaly, short neck, clinodactyly of the fifth finger, small hands and feet, and mental retardation.
  • Beckwith-Wiedemann syndrome: Patients with this syndrome present with macrosomia, microcephaly, macroglossia, visceromegaly, omphalocele, and hypoglycemia.
  • Branchio-oto-renal (BOR) syndrome: The BOR syndrome is an autosomal dominant condition; patients usually present with hearing loss, ear malformations including preauricular pits, branchial cleft fistulas or cysts, and dysplasia or renal agenesis. Renal dysplasia is more common than renal agenesis.
  • Joubert syndrome: This syndrome is an autosomal recessive condition characterized by hypoplasia of the cerebellar vermis, hypotonia, and impaired psychomotor development together with abnormal respiratory pattern, abnormal eye movements with poor vision, or both.
  • Trisomy 18: Patients with trisomy 18 have a prominent occiput, micrognathia, low-set ears, flexion deformities of the fingers, congenital heart disease, and mental retardation.
  • VACTERL association: The VACTERL association refers to the combination of vertebral defects (V), anal atresia (A), cardiovascular anomalies (C), tracheoesophageal fistula (TE), renal anomalies (R), and limb defects (L). In a study of 50 patients with the VACTERL association, 11 (22%) had cystic renal disease.
  • Waardenburg syndrome type 1: Patients present with developmental anomalies of the eyelids, eyebrows, and nose root; pigmentary defects of the iris and hair; and congenital deafness.
  • Williams syndrome: This syndrome is characterized by elfin facies, mental retardation, supravalvular aortic stenosis, and neonatal hypercalcemia.
• Nonrenal malformations reported in patients with MCDK include the following:
• • Gastrointestinal
  • • Duodenal atresia
    • Esophageal atresia
    • Hirschsprung disease
    • Imperforate anus
    • Inguinal hernia
    • Omphalocele
    • Tracheoesophageal fistula
  • Neurologic
  • • Anencephaly
    • Caudal agenesis
    • Caudal regression syndrome
    • Congenital deafness
    • Hydrocephalus
    • Mental retardation
    • Microcephaly
    • Microphthalmia
    • Myelomeningocele
    • Spina bifida
  • Cardiovascular
  • • Aortic stenosis
    • Coarctation of the aorta
    • Patent ductus arteriosus
    • Pulmonary stenosis
    • Truncus arteriosus
    • Ventricular septal defect
  • Musculoskeletal
  • • Clinodactyly of the fifth finger
    • Congenital dislocation of the hip
    • Flexion deformities of the fingers
    • Syndactyly
    • Talipes equinovarus
  • Miscellaneous
  • • Bipartite uterus
    • Cleft palate
    • Epicanthic folds
    • Hymenal atresia
    • Hypertelorism
    • Low-set ears
    • Macroglossia
    • Macrosomia
    • Micrognathia
    • Pigmentary defects of iris and hair
    • Preauricular pit
    • Short neck
• Urinary malformations associated with MCDK include the following:
• • Bladder wall diverticulum
  • Contralateral renal agenesis
  • Dysplasia
  • Hypoplasia
  • Crossed fused renal ectopia
  • Cystic dysplasia of the testis
  • Ectopic kidney
  • Fibromuscular dysplasia
  • Horseshoe kidney
  • Patent urachus
  • Seminal vesicle abnormalities
  • Ureterocele
  • UPJO: Contralateral UPJO has been reported in 7-12% of patients.
  • Urethral valves vesicoureteral reflux (VUR): Contralateral VUR is reported in 11-28% of patients. Ipsilateral VUR might also be present.
• In 1992, Atiyeh et al retrospectively reviewed 56 patients with MCDK and noted associated urinary abnormalities in 29 patients (52%).⁶
• Several authors have suggested that MCDK might be subcategorized based on the presence or absence of associated contralateral urinary abnormalities.
• • In 1977, de Klerk et al suggested that MCDK associated with atresia of the urinary pelvis is not associated with significant contralateral urinary abnormalities, whereas MCDK associated with atresia of a lower ureteral segment is associated with significant contralateral urinary abnormalities and has a poorer prognosis.⁷
  • In 1978, Bloom et al suggested that the incidence of contralateral urinary abnormalities might vary with the size of the MCDK-affected kidney.⁸ These authors reported that large kidney with MCDK is not associated with contralateral urinary abnormalities, whereas small kidney with MCDK is associated with contralateral urinary abnormalities and with other congenital anomalies.
• The contralateral kidney is usually larger than normal.
• • In children older than 2 years, 72% of patients with MCDK showed compensatory growth of the contralateral kidney.
  • Compensatory growth of the contralateral kidney has been noted in utero and was noted in 8 (24%) of 33 children at birth.⁹

DIFFERENTIALS

Section 4 of 10  

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• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Other Problems to be Considered

UPJO
Isolated renal dysplasia
Renal dysplasia secondary to other obstructive disorders of the urinary tract

WORKUP

Section 5 of 10  

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• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Lab Studies

• A urine for dipstick and microscopic analysis should be obtained. Urine should be sent for culture as needed.
• Blood tests for creatinine, urea, and electrolytes should be performed.

Imaging Studies

• Renal ultrasonography
• • Renal ultrasonography is the recommended preliminary diagnostic imaging study.
  • Ultrasonography reveals a kidney that contains multiple cysts of variable size that are randomly arranged and are separated by little or no echogenic parenchyma.
  • No renal pelvis is identifiable.
• Dimercaptosuccinic acid (DMSA) renal scanning
• • DMSA renal scanning might be necessary if ultrasonography does not reveal the classic features of multicystic dysplasia of the kidney (MCDK).
  • DMSA renal scanning demonstrates absence of function in the kidney with MCDK.
• When ultrasonography reveals a pelvocaliceal system or a dominant central cyst, severe UPJO and renal dysplasia secondary to obstruction might be difficult to differentiate. In these cases, technetium Tc 99m diethylenetriamine pentaacetic acid (DTPA) or technetium Tc 99m mercaptoacetythiglycine (MAG-3) renal scanning with furosemide washout is important.
• In cases of severe hydronephrosis, a peripheral rim of activity might be observed, followed by an increase in excretion noted on delayed images.
• Delayed images also reveal retention of the DTPA or MAG-3 in the pelvocaliceal system with little or no washout with furosemide.
• With renal dysplasia secondary to obstruction, degrees of decreased function vary.
• Intravenous pyelography (IVP) is not usually necessary; however, if MCDK involves only the upper or lower segment of a duplicated system, an IVP might show a small but functional ipsilateral kidney with an incomplete and possibly dilated calyceal system.
• Voiding cystourethrography (VCUG) should be performed to look for VUR.
• Cystoscopy is usually unnecessary.
• • If performed, the ipsilateral ureteral orifice and hemitrigone might be absent.
  • When the ureteral orifice is present, retrograde ureterography usually demonstrates a ureter that terminates blindly below the ureteropelvic junction.
• In the rare situation in which severe UPJO cannot be differentiated from MCDK by ultrasonography and DTPA renal scanning, a diagnostic puncture of a cyst with instillation of radiographic contrast material might help distinguish these 2 disorders. The presence of cysts connected by tubular structures and the absence of a collecting system is diagnostic of MCDK.

Other Tests

An annual assessment of blood pressure should be performed.

Histologic Findings

The kidney with MCDK is enlarged, abnormally shaped, and often resembles a bunch of grapes. The numerous and irregularly sized cysts range from less than 1 mm to several centimeters in diameter. In a study of 48 patients, fewer than 5 cysts were noted in 34% of patients, and 5 or more cysts were noted in 66% of patients.¹⁰ The cysts contain a clear or yellow fluid and are connected by a fibrous tissue stroma. The usual reniform configuration of the kidney is obscured by the cysts and by a lack of pelvocaliceal differentiation. Rudimentary lobes are sometimes grossly identifiable. Nodular masses are present in a medial and central location in some kidneys and might represent pelvic atresia. MCDK might be present in only the upper or lower pole of a duplicated collecting system. Ureteral or ureteropelvic atresia is always present. The atretic portion of the ureter varies in length from 1-5 cm. The ipsilateral renal artery is absent or hypoplastic.

Primitive epithelial ducts and nests of metaplastic cartilage are the principal microscopic criteria for a diagnosis of MCDK. Histopathologic examination reveals abnormal ductal differentiation and only rudimentary corticomedullary differentiation. Thick- or thin-walled cysts with smooth inner linings are present throughout the kidney. Normal renal parenchyma is usually absent. The loose connective tissue that surrounds the cysts might range from thin strands to extensive areas of fibrosis.

TREATMENT

Section 6 of 10  

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• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Medical Care

The role of nephrectomy in multicystic dysplasia of the kidney (MCDK) is controversial. Prior to the availability of modern ultrasonography, nephrectomy was often required to establish the diagnosis. A 1978 survey by Bloom et al revealed that 65% of pediatric urologists recommended nephrectomy for MCDK, compared with more recent data that indicate only 40% of pediatric urologists recommend nephrectomy.^{8, 11}

• The traditional reasons to consider nephrectomy are to treat or prevent abdominal or flank pain, UTI, hypertension, or renal malignancy.
• If a child has significant abdominal or flank discomfort that can be attributed to the pressure effects of MCDK, the abnormal kidney should be removed.
• If a child has evidence of a UTI, consider a nephrectomy only if the UTI involves the kidney with MCDK.
• The presence of ipsilateral VUR, pyelonephritis in the contralateral kidney, or recurrent episodes of cystitis are not sufficient justification for a nephrectomy in MCDK.
• If a child has hypertension, consider a nephrectomy only if the hypertension can be shown to be due to the kidney with MCDK.
• The presence of a renal malignancy is an indication for nephrectomy.
• The main controversy regarding the indications for nephrectomy is whether this procedure will prevent a renal malignancy.
• • Determining whether a renal malignancy is present in individuals with MCDK might be difficult. The retroperitoneal location precludes physical detection of a small mass, and the lack of urine output from the affected kidney does not allow for cytologic examination.
  • The evidence for the presence of a renal malignancy must be based on diagnostic imaging changes, and because cysts can be noted in renal malignancy, differentiation might be difficult.
• Beckwith's 1992 mathematical analysis does not recommend nephrectomy based on the calculated incidence of Wilms tumor, but the calculation does not consider the incidence of renal carcinoma (see Complications).¹² Whether the risk of renal malignancy in those individuals who show involution is different compared with the risk in those who do not is unknown.
• Some authors are concerned that the intervening stroma of a kidney affected by MCDK might not undergo complete involution and might provide a focus for malignant degeneration.
• Some authors recommend nephrectomy only in patients who do not show involution over a defined period, such as the first 5 years of life. Because the peak incidence of Wilms tumor is in infancy and declines after age 5 years, this approach seems less scientific.
• A poll of insurance companies revealed that only 15% issue life insurance if the MCDK-affected kidney is left in situ, compared with 70% if the kidney is removed.
• The role of laparoscopic nephrectomy for MCDK is controversial.
• Individuals with MCDK should undergo renal ultrasonography every 6-12 months until age 5 years or until involution is noted.
• Individuals with MCDK and contralateral VUR should receive antibiotic prophylaxis during infancy and early childhood, the ages during which the risk for scarring due to pyelonephritis is highest. Miller et al reported on 75 children with MCDK.¹³ Nineteen (26%) had VUR. After a median follow-up of 4.4 years, spontaneous resolution occurred in 89% of patients with grades I and II VUR, versus only 50% of patients with grades III and IV VUR (P = .14). The presence of VUR did not affect the sonographically measured growth of the contralateral kidney.
• Lifetime follow-up is required whether or not involution has occurred or a nephrectomy has been performed because long-term studies of patients with a single kidney report hypertension in 27-47% of patients, proteinuria in 23-47% of patients, and renal insufficiency in 3-13% of patients.
• • Sporadic clinical reports have documented the development of proteinuria and focal glomerulosclerosis in patients with a single kidney.
  • Follow-up should include routine and ambulatory measurement of the blood pressure, urinalysis, and periodic assessments of kidney filter function.
  • The presence of associated urinary and nonurinary abnormalities might require specific follow-up.

Surgical Care

Nephrectomy for MCDK is conventionally done as an inpatient procedure. However, outpatient nephrectomy has been reported through a 2.5-cm incision without the need for overnight hospitalization. The role of laparoscopic nephrectomy for MCDK is controversial.

Consultations

Consultations with a pediatric nephrologist and a pediatric urologist should be obtained.

Diet

A diet that minimizes salt and protein to the recommended daily requirements for age is recommended for all patients with only one functional kidney.

Activity

Lifestyle recommendations for patients with only one functional kidney include maintaining a thin body habitus and daily aerobic exercise.

MEDICATION

Section 7 of 10  

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• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Drug therapy currently is not a component of the standard of care for this condition. See Treatment.

FOLLOW-UP

Section 8 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Further Outpatient Care

• Blood pressure should be checked at least once each year, and hypertension should be treated. Ambulatory blood pressure monitoring should be considered to screen children for hypertension.
• Preventative antibiotics are only necessary in those children with multicystic dysplasia of the kidney (MCDK) and vesicoureteral reflux. A yearly VCUG is not indicated.

Deterrence/Prevention

During pregnancy, a woman with a history of MCDK should have her blood pressure followed closely, her urine screened for infection, and her kidney function periodically assessed.

Complications

Complications of MCDK might be categorized as those due to MCDK and those due to associated urinary malformations.

• Abdominal or flank pain
• UTI
• • The Multicystic Kidney Registry reported UTI in 12 (5%) of 260 patients who were observed for 5 years.³
  • Pyelonephritis, when present, is almost always on the contralateral side and is often associated with VUR.
  • UTI occurring in MCDK is rare because the ureteral atresia presumably prevents ascending infection; however, Hartman et al in 1986 reported abscess formation in MCDK, and Reitelman et al in 1992 reported an individual with a primarily infected kidney with MCDK.^{14, 15} The latter authors presumed an ascending infection developed when bacteria traversed the microlumen of an atretic ureteric segment.
• Hypertension
• • The Multicystic Kidney Registry reported mild hypertension in 4 (1.5%) of 260 individuals with MCDK who were observed for 5 years.³
  • Seeman et al performed ambulatory blood pressure monitoring on 25 children with MCDK.¹⁶ Five (20%) children had blood pressures greater than the 95th percentile, 2 had combined day- and nighttime hypertension, and 3 had isolated nighttime hypertension. Hypertension was more common in children with contralateral urinary abnormalities.
  • In 1982, Ambrose et al identified 4 adults with hypertension that did not improve following nephrectomy of the kidney with MCDK.¹⁷
  • Hypertension that resolved after nephrectomy of an MCDK-affected kidney has been reported in 4 individuals. In one case, the plasma renin activity was elevated before nephrectomy and normalized after nephrectomy.¹⁸
  • Most patients with MCDK have no radiologically demonstrable blood flow. A nonfunctional bloodless kidney is an unlikely cause of hypertension in infancy and early childhood. However, the presence of a contralateral congenital urinary abnormality such as UPJO or renal dysplasia, the development of a pyelonephritic scar in a contralateral kidney with VUR, or the effects over time of hyperfiltration of the contralateral kidney are potential causes of hypertension.
• Renal malignancy
• • Nephroblastoma (Wilms tumor) in MCDK has been reported in 7 children with an average age of 7 months.
  • Renal cell carcinoma was reported in 13 patients at an average age of 39 years, and an embryonal tumor was reported in a 68-year-old patient.¹¹
  • Nodular renal blastema is reported in 0.25-0.5% of the general population, 3-6.7% of individuals with MCDK, and 12-40% of patients with Wilms tumor.¹²
  • The increased incidence of nodular renal blastema in MCDK might confer a higher risk for Wilms tumor.
  • In 1992, Beckwith placed the increased risk of Wilms tumor in MCDK into mathematical perspective.¹² Beckwith noted that nodular renal blastema is present in as much as 1% of the general population and that Wilms tumor develops in approximately 1 in 8000 children. Approximately 1 in 80 infants with nodular renal blastema develops Wilms tumor. The incidence of nodular renal blastema in MCDK is considered to be approximately 5%; therefore, 20 MCDK-affected kidneys would need to be removed to ablate one with nodular renal blastema and 1600 kidneys with MCDK would need to be removed to prevent one case of Wilms tumor. Because the cure rate for Wilms tumor is approximately 90%, 16,000 MCDK-affected kidneys would need to be removed to save one life. Based on this analysis, Beckwith does not recommend nephrectomy to prevent the development of Wilms tumor in a patient with MCDK.
• Gastric outlet obstruction and respiratory depression: Gastric outlet obstruction with feeding difficulties and respiratory depression due to elevation of the hemidiaphragm are rare reported complications.

Prognosis

• Prognosis depends on whether the involvement is unilateral or bilateral and on the presence and severity of associated anomalies. Most individuals with isolated unilateral MCDK do not experience any problems or complications as a consequence of this congenital abnormality.

Patient Education

• All patients with MCDK should be counseled on the lifetime implications of the presence of only one functional kidney.

MISCELLANEOUS

Section 9 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• Failure to diagnose multicystic dysplasia of the kidney (MCDK) in a child with an abdominal mass
• Failure to periodically follow blood pressure and kidney function in a child with MCDK

Special Concerns

• UPJO
• • Severe UPJO might be difficult to distinguish from MCDK. Some patients presumed to have severe UPJO are discovered during surgery to have MCDK. UPJO and MCDK might share a common pathogenesis.
  • In 1988, Bachmann et al suggested surgical exploration when a significant amount of solid tissue can be demonstrated.¹⁹ Removing a kidney with benign MCDK is preferable to missing a salvageable kidney with UPJO.
• Isolated renal dysplasia
• • MCDK differs from renal dysplasia only in the degree of cyst formation. The 2 conditions are otherwise structurally and, perhaps, pathogenetically related.
  • Individuals with unilateral renal dysplasia usually present with a small, solid, and nonfunctional kidney.
  • Because MCDK is a dynamic entity, a kidney with involuted MCDK might be indistinguishable from a dysplastic kidney.
• Renal dysplasia secondary to other obstructive disorders of the urinary tract
• • Renal dysplasia might be secondary to other obstructive disorders of the urinary tract, including posterior urethral valves, prune belly syndrome, ectopic ureter, duplication with ureterocele, or vesicular junction obstruction.
  • These disorders can be differentiated by a characteristic diagnostic appearance on imaging studies.
• Cystic renal disorders
• • Polycystic kidney disease and other cystic renal disorders can be differentiated from MCDK by the presence of bilateral renal disease and typical diagnostic imaging features.
  • Because the presentations are sufficiently different from MCDK, these cystic disorders are not included in the differential diagnosis.

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• MEDICATION
• Follow-up
• Miscellaneous
• References

1. Squiers EC, Morden RS, Bernstein J. Renal multicystic dysplasia: an occasional manifestation of the hereditary renal adysplasia syndrome. Am J Med Genet Suppl. 1987;3:279-84. [Medline].
2. Srivastava T, Garola RE, Hellerstein S. Autosomal dominant inheritance of multicystic dysplastic kidney. Pediatr Nephrol. Aug 1999;13(6):481-3. [Medline].
3. Wacksman J, Phipps L. Report of the Multicystic Kidney Registry: preliminary findings. J Urol. Dec 1993;150(6):1870-2. [Medline].
4. Avni EF, Thoua Y, Lalmand B, et al. Multicystic dysplastic kidney: natural history from in utero diagnosis and postnatal followup. J Urol. Dec 1987;138(6):1420-4. [Medline].
5. Robson WL, Leung AK, Thomason MA. Multicystic dysplasia of the kidney. Clin Pediatr (Phila). Jan 1995;34(1):32-40. [Medline].
6. Atiyeh B, Husmann D, Baum M. Contralateral renal abnormalities in multicystic-dysplastic kidney disease. J Pediatr. Jul 1992;121(1):65-7. [Medline].
7. de Klerk DP, Marshall FF, Jeffs RD. Multicystic dysplastic kidney. J Urol. 1977;118(2):306-8. [Medline].
8. Bloom DA, Brosman S. The multicystic kidney. J Urol. Aug 1978;120(2):211-5. [Medline].
9. Jeanty P, Romero R, Kepple D, et al. Prenatal diagnoses in unilateral empty renal fossa. J Ultrasound Med. Nov 1990;9(11):651-4. [Medline].
10. Strife JL, Souza AS, Kirks DR, et al. Multicystic dysplastic kidney in children: US follow-up. Radiology. Mar 1993;186(3):785-8. [Medline].
11. Gordon AC, Thomas DF, Arthur RJ, Irving HC. Multicystic dysplastic kidney: is nephrectomy still appropriate?. J Urol. Nov 1988;140(5 Pt 2):1231-4. [Medline].
12. Beckwith JB. Should asymptomatic unilateral multicystic dysplastic kidneys be removed because of the future risk of neoplasia?. Pediatr Nephrol. Nov 1992;6(6):511. [Medline].
13. Miller DC, Rumohr JA, Dunn RL, et al. What is the fate of the refluxing contralateral kidney in children with multicysticdysplastic kidney?. J Urol. Oct 2004;172(4 Pt 2):1630-4. [Medline].
14. Hartman GE, Smolik LM, Shochat SJ. The dilemma of the multicystic dysplastic kidney. Am J Dis Child. Sep 1986;140(9):925-8. [Medline].
15. Reitelman C, Becker CJ, Chang CH, Perlmutter AD. Infected multicystic dysplastic kidney. Urology. Feb 1992;39(2):157-9. [Medline].
16. Seeman T, John U, Blahova K, et al. Ambulatory blood pressure monitoring in children with unilateral multicysticdysplastic kidney. Eur J Pediatr. Feb 2001;160(2):78-83. [Medline].
17. Ambrose SS, Gould RA, Trulock TS, Parrott TS. Unilateral multicystic renal disease in adults. J Urol. Aug 1982;128(2):366-9. [Medline].
18. Angermeier KW, Kay R, Levin H. Hypertension as a complication of multicystic dysplastic kidney. Urology. Jan 1992;39(1):55-8. [Medline].
19. Bachmann H, Winkielman J, Olbing H. Unilateral multicystic kidney dysplasia: follow-up during the first two years of life. Contrib Nephrol. 1988;67:188-92. [Medline].
20. Arfeen S, Rosborough D, Luger AM, Nolph KD. Familial unilateral renal agenesis and focal and segmental glomerulosclerosis. Am J Kidney Dis. Jun 1993;21(6):663-8. [Medline].
21. Argueso LR, Ritchey ML, Boyle ET Jr, et al. Prognosis of patients with unilateral renal agenesis. Pediatr Nephrol. Sep 1992;6(5):412-6. [Medline].
22. Baudoin P, Provoost AP, Molenaar JC. Renal function up to 50 years after unilateral nephrectomy in childhood. Am J Kidney Dis. Jun 1993;21(6):603-11. [Medline].
23. Bernstein J. Is unilateral multicystic renal dysplasia sometimes heritable, and what is the risk of recurrence?. Pediatr Nephrol. Nov 1990;4(6):662. [Medline].
24. Bisset GS, Towbin RB. Pediatric case of the day. Focal multicystic dysplasia in lower pole renal duplication. Radiographics. May 1986;6(3):508-11. [Medline].
25. Caldamone AA, Rabinowitz R. Crossed fused renal ectopia, orthotopic multicystic dysplasia and vaginal agenesis. J Urol. Jul 1981;126(1):105-7. [Medline].
26. Colodny AH. The management of multicystic dysplastic kidney in infancy. Urology. Jun 1995;45(6):1084-5. [Medline].
27. de Oliveira-Filho AG, Carvalho MH, Sbragia-Neto L, et al. Wilms tumor in a prenatally diagnosed multicystic kidney. J Urol. Nov 1997;158(5):1926-7. [Medline].
28. Diard F, Le Dosseur P, Cadier L, et al. Multicystic dysplasia in the upper component of the complete duplex kidney. Pediatr Radiol. 1984;14(5):310-3. [Medline].
29. Dimmick JE, Johnson HW, Coleman GU, Carter M. Wilms tumorlet, nodular renal blastema and multicystic renal dysplasia. J Urol. Aug 1989;142(2 Pt 2):484-5; discussion 489. [Medline].
30. Dungan JS, Fernandez MT, Abbitt PL, et al. Multicystic dysplastic kidney: natural history of prenatally detected cases. Prenat Diagn. Mar 1990;10(3):175-82. [Medline].
31. Emmert GK Jr, Eubanks S, King LR. Improved technique of laparoscopic nephrectomy for multicystic dysplastic kidney. Urology. Sep 1994;44(3):422-4. [Medline].
32. Evans JA, Stranc LC. Cystic renal disease and cardiovascular anomalies. Am J Med Genet. Jul 1989;33(3):398-401. [Medline].
33. Felson B, Cussen LJ. The hydronephrotic type of unilateral congenital multicystic disease of the kidney. Semin Roentgenol. Apr 1975;10(2):113-23. [Medline].
34. Fischbach M, Lutz JD, Tongio J, et al. [Williams and Beuren's syndrome with hypertension and associated renal abnormalities (author's transl)]. Sem Hop. Apr 8-15 1979;55(13-14):689-93. [Medline].
35. Flack CE, Bellinger MF. The multicystic dysplastic kidney and contralateral vesicoureteral reflux: protection of the solitary kidney. J Urol. Dec 1993;150(6):1873-4. [Medline].
36. Gipson TG, Anderson EE, Bradford WD. Multicystic renal dysplasia. Pathologic and clinical observations in 22 cases. Clin Pediatr (Phila). Oct 1976;15(10):896-900. [Medline].
37. Glassberg KI, Stephens FD, Lebowitz RL, et al. Renal dysgenesis and cystic disease of the kidney: a report of the Committee on Terminology, Nomenclature and Classification, Section on Urology, American Academy of Pediatrics. J Urol. Oct 1987;138(4 Pt 2):1085-92. [Medline].
38. Greene LF, Feinzaig W, Dahlin DC. Multicystic dysplasia of the kidney: with special reference to the contralateral kidney. J Urol. Apr 1971;105(4):482-7. [Medline].
39. Greenfield SP, Rutigliano E, Steinhardt G, Elder JS. Genitourinary tract malformations and maternal cocaine abuse. Urology. May 1991;37(5):455-9. [Medline].
40. Halpern NA, Krakoff LR, Haimov M, et al. Renovascular hypertension associated with a pelvic kidney and multicystic dysplasia. J Urol. Oct 1982;128(4):794-7. [Medline].
41. Hartshorne N, Shepard T, Barr M Jr. Compensatory renal growth in human fetuses with unilateral renal agenesis. Teratology. Jul 1991;44(1):7-10. [Medline].
42. Homsy YL, Anderson JH, Oudjhane K, Russo P. Wilms tumor and multicystic dysplastic kidney disease. J Urol. Dec 1997;158(6):2256-9; discussion 2259-60. [Medline].
43. Husmann DA. Renal dysplasia: the risks and consequences of leaving dysplastic tissue in situ. Urology. Oct 1998;52(4):533-6. [Medline].
44. Jankauskiene A, Dodat H, Deiber M, et al. Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. Pediatr Nephrol. Dec 1997;11(6):744-5. [Medline].
45. Javadpour N, Chelouhy E, Moncada L, et al. Hypertension in a child caused by a multicystic kidney. J Urol. Dec 1970;104(6):918-21. [Medline].
46. John U, Rudnik-Schoneborn S, Zerres K, Misselwitz J. Kidney growth and renal function in unilateral multicystic dysplastic kidney disease. Pediatr Nephrol. Sep 1998;12(7):567-71. [Medline].
47. Kessler OJ, Ziv N, Livne PM, Merlob P. Involution rate of multicystic renal dysplasia. Pediatrics. Dec 1998;102(6):E73. [Medline]. [Full Text].
48. Khoury MJ, Cordero JF, Greenberg F, et al. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. May 1983;71(5):815-20. [Medline].
49. Kiprov DD, Colvin RB, McCluskey RT. Focal and segmental glomerulosclerosis and proteinuria associated with unilateral renal agenesis. Lab Invest. Mar 1982;46(3):275-81. [Medline].
50. Kleiner B, Filly RA, Mack L, Callen PW. Multicystic dysplastic kidney: observations of contralateral disease in the fetal population. Radiology. Oct 1986;161(1):27-9. [Medline].
51. Kuwertz-Broeking E, Brinkmann OA, Von Lengerke HJ, et al. Unilateral multicystic dysplastic kidney: experience in children. BJU Int. Feb 2004;93(3):388-92. [Medline].
52. Kyaw MM, Newman H. Adult multicystic renal disease. Br J Radiol. Nov 1971;44(527):881-2. [Medline].
53. Lennert T, Tetzner M, Er M, et al. Multicystic renal dysplasia: nephrectomy versus conservative treatment. Contrib Nephrol. 1988;67:183-7. [Medline].
54. LLoyd DJ, McKenzie J, Kaye HH, Russell G. Vater syndrome: hypothesis and report of two further cases. Teratology. Feb 1977;15(1):43-6. [Medline].
55. Mandell J, Paltiel HJ, Peters CA, Benacerraf BR. Prenatal findings associated with a unilateral nonfunctioning or absent kidney. J Urol. Jul 1994;152(1):176-8. [Medline].
56. Melnick M, Myrianthopoulos NC, Paul NW. External ear malformations: epidemiology, genetics, and natural history. Birth Defects Orig Artic Ser. 1979;DA - 19800417(9):i-ix, 1-140. [Medline].
57. Mesrobian HG, Rushton HG, Bulas D. Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia. J Urol. Aug 1993;150(2 Pt 2):793-4. [Medline].
58. Murugasu B, Cole BR, Hawkins EP, et al. Familial renal adysplasia. Am J Kidney Dis. Oct 1991;18(4):490-4. [Medline].
59. Nussbaum AR, Hartman DS, Whitley N, et al. Multicystic dysplasia and crossed renal ectopia. AJR Am J Roentgenol. Aug 1987;149(2):407-10. [Medline].
60. Orejas G, Malaga S, Santos F, et al. Multicystic dysplastic kidney: absence of complications in patients treated conservatively. Child Nephrol Urol. 1992;12(1):35-9. [Medline].
61. Rickwood AM, Anderson PA, Williams MP. Multicystic renal dysplasia detected by prenatal ultrasonography. Natural history and results of conservative management. Br J Urol. May 1992;69(5):538-40. [Medline].
62. Robson WL, Rogers RC, Leung AK. Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis?. Am J Med Genet. Nov 15 1994;53(3):302. [Medline].
63. Robson WL, Thomason MA, Minette LJ. Cystic dysplasia of the testis associated with multicystic dysplasia of the kidney. Urology. Mar 1998;51(3):477-9. [Medline].
64. Sanders RC, Hartman DS. The sonographic distinction between neonatal multicystic kidney and hydronephrosis. Radiology. Jun 1984;151(3):621-5. [Medline].
65. Saxton HM, Golding SJ, Chantler C, Haycock GD. Diagnostic puncture in renal cystic dysplasia (multicystic kidney). Evidence on the aetiology of the cysts. Br J Radiol. Jul 1981;54(643):555-61. [Medline].
66. Silverstein DM, Zacharowicz L, Edelman M, et al. Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatr Nephrol. Dec 1997;11(6):746-9. [Medline].
67. Stuck KJ, Koff SA, Silver TM. Ultrasonic features of multicystic dysplastic kidney: expanded diagnostic criteria. Radiology. Apr 1982;143(1):217-21. [Medline].
68. Susskind MR, Kim KS, King LR. Hypertension and multicystic kidney. Urology. Dec 1989;34(6):362-6. [Medline].
69. Thomas DF, Fitzpatrick MM. Unilateral multicystic dysplastic kidney. Arch Dis Child. Oct 1997;77(4):368-9. [Medline]. [Full Text].
70. Toussi T, Halal F, Lesage R, et al. Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome. Am J Med Genet. 1980;6(2):153-62. [Medline].
71. Triest JA, Bukowski TP. Multicystic dysplastic kidney as cause of gastric outlet obstruction and respiratory compromise. J Urol. Jun 1999;161(6):1918-9. [Medline].
72. Vinocur L, Slovis TL, Perlmutter AD, et al. Follow-up studies of multicystic dysplastic kidneys. Radiology. May 1988;167(2):311-5. [Medline].
73. Walker D, Fennell R, Garin E, Richard G. Spectrum of multicystic renal dysplasia: diagnosis and management. Urology. May 1978;11(5):433-6. [Medline].
74. Webb NJ, Lewis MA, Bruce J, et al. Unilateral multicystic dysplastic kidney: the case for nephrectomy. Arch Dis Child. Jan 1997;76(1):31-4. [Medline]. [Full Text].
75. Weinstein T, Zevin D, Gafter U, et al. Proteinuria and chronic renal failure associated with unilateral renal agenesis. Isr J Med Sci. Nov 1985;21(11):919-21. [Medline].
76. Widdershoven J, Monnens L, Assmann K, Cremers C. Renal disorders in the branchio-oto-renal syndrome. Helv Paediatr Acta. Dec 1983;38(5-6):513-22. [Medline].
77. Wikstad I, Celsi G, Larsson L, et al. Kidney function in adults born with unilateral renal agenesis or nephrectomized in childhood. Pediatr Nephrol. Apr 1988;2(2):177-82. [Medline].
78. Williams DI. Multicystic and dysplastic kidneys. Trans Am Assoc Genitourin Surg. 1964;56:88-92. [Medline].

Article Last Updated: Sep 24, 2007