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Multicystic Renal Dysplasia Clinical Presentation

  • Author: Agnieszka Swiatecka-Urban, MD; Chief Editor: Craig B Langman, MD  more...
Updated: Sep 17, 2015


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  • 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 multicystic dysplastic kidney.
  • In prenatally diagnosed multicystic dysplastic kidney, the abnormal kidney is palpable in only 13-22% of patients.
  • The mass is usually mobile, ballotable, irregular in shape, nontender, and might transilluminate.


See the list below:

  • Multicystic dysplastic kidney 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.
  • Multicystic dysplastic kidney might be discovered during an investigation for urinary tract infection (UTI), voiding dysfunction, or hypertension. Multicystic dysplastic kidney may also be discovered when diagnostic imaging studies are performed to investigate a nonurinary problem.
  • Bilateral multicystic dysplastic kidney usually results in stillbirth or death within the first few days of life; however, an infant with bilateral multicystic dysplastic kidney who survived for 17 days was reported.
  • Bilateral multicystic dysplastic kidney is usually associated with oligohydramnios, amnion nodosum, pulmonary hypoplasia, and Potter facies.
  • Infants with bilateral multicystic dysplastic kidney who survive have renal failure from birth and require dialysis from the first day of life.


See the list below:

  • Multicystic dysplastic kidney 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.
    • Alagille syndrome: Alagille syndrome is a autosomal dominant condition characterized by liver disease, cardiac defects, and characteristic facies, including a prominent forehead and pointed chin. Involvement of one or more additional systems, such as kidney, eye, skeleton, vasculature, and pancreas, is common. Renal anomalies include cystic dysplasia. The condition is associated with mutations in the JAG1 gene that encodes for a ligand of Notch.
    • 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 caused by mutations in the EYA1 and SIX1 genes; patients usually present with hearing loss, ear malformations (eg, preauricular pits), branchial cleft fistulas or cysts, and dysplasia or renal agenesis. Renal dysplasia is more common than renal agenesis.
    • Hypoparathyroidism-deafness-renal syndrome: This autosomal dominant syndrome is caused by mutations in the GATA3 transcription factor. Patients present with hypoparathyroidism, sensorineural deafness, and urinary tract anomalies, including renal dysplasia.
    • 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.
    • Maturity-onset diabetes of the young type V (MODY5): MODY5 is a monogenic form of diabetes with an autosomal dominant mode of inheritance caused by mutations in the hepatocyte nuclear factor 1-beta mutations. Patients present with diabetes, usually when younger than 25 years, with a wide spectrum of renal anomalies, including cystic dysplasia.
    • Renal coloboma syndrome (RCS): The RCS is an autosomal dominant condition caused by mutations in the transcription factor PAX2 and characterized by optic nerve coloboma and renal malformations, including dysplasia.
    • 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 multicystic dysplastic kidney include the following:
  • Urinary malformations associated with multicystic dysplastic kidney 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
    • Ureteropelvic junction obstruction (UPJO): Contralateral UPJO has been reported in 7-12% of patients.
    • Urethral valves
    • Vesicoureteral reflux (VUR): Contralateral VUR is reported in 4-19% of patients.[14, 15] Ipsilateral VUR might also be present.[16] VUR is usually low grade and usually resolves in early life.
  • Atiyeh et al retrospectively reviewed 56 patients with multicystic dysplastic kidney and noted associated urinary abnormalities in 29 patients (52%).[17]
  • Several authors have suggested that multicystic dysplastic kidney might be subcategorized based on the presence or absence of associated contralateral urinary abnormalities.
    • de Klerk et al suggested that multicystic dysplastic kidney associated with atresia of the urinary pelvis is not associated with significant contralateral urinary abnormalities, whereas multicystic dysplastic kidney associated with atresia of a lower ureteral segment is associated with significant contralateral urinary abnormalities and has a poorer prognosis.[18]
    • Bloom et al suggested that the incidence of contralateral urinary abnormalities might vary with the size of the multicystic dysplastic kidney–affected kidney.[19] These authors reported that large kidney with multicystic dysplastic kidney is not associated with contralateral urinary abnormalities, whereas small kidney with multicystic dysplastic kidney 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 multicystic dysplastic kidney 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.[20]
Contributor Information and Disclosures

Agnieszka Swiatecka-Urban, MD FASN, Assistant Professor, Department of Pediatrics, Cell Biology and Physiology, University of Pittsburgh School of Medicine; Assistant Professor, Department of Nephrology, Children's Hospital of Pittsburgh

Agnieszka Swiatecka-Urban, MD is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, Women in Nephrology

Disclosure: Received consulting fee from Mallinckrodt Pharmaceuticals for consulting.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Frederick J Kaskel, MD, PhD Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine

Frederick J Kaskel, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

Laurence Finberg, MD Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author William Lane M Robson, MA, MD, FRCP, FRCP(Glasg), to the original writing and development of this article.

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Kidney, ureter, and bladder (KUB) images of an infant with a right multicystic dysplastic kidney demonstrate displacement of bowel loops away from the right abdomen.
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