Multicystic Renal Dysplasia Clinical Presentation

Updated: Aug 22, 2016
  • Author: Agnieszka Swiatecka-Urban, MD, FASN; Chief Editor: Craig B Langman, MD  more...
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Presentation

History

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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.

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Physical

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  • 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.

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Causes

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  • 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 an 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. [15, 16] Ipsilateral VUR might also be present. [17] 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%). [18]

  • 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. [19]

    • Bloom et al suggested that the incidence of contralateral urinary abnormalities might vary with the size of the multicystic dysplastic kidney–affected kidney. [20] 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. [21]

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