Table 1.

Differential diagnosis of ADPKDa

Renal Cystic DisorderPrevalenceClinical Findings Not Found in ADPKD
Syndromic
    tuberous sclerosisapproximately 1:10,000Autosomal dominant inheritance. Skin lesions (facial angiofibromas, periungual fibroma, hypomelanotic macules, Shagreen patch); retinal hamartomas; seizures; mental retardation; cortical tuber; subependymal giant cell astrocytoma; cardiac rhabdomyoma; lymphangioleiomyomatosis; renal angiomyolipoma. Contiguous deletion of PKD1 and TSC2 results in severe polycystic kidney disease in infancy or early childhood with ESRD typically occurring in the first two decades of life.
    Von Hippel-Lindau syndromeapproximately 1:50,000Autosomal dominant inheritance. Central nervous system and retinal hemangioblastoma; pancreatic cysts; pheochromocytoma; renal cell carcinoma in 25 to 45% of patients; papillary cystadenoma of epididymis.
    medullary sponge kidneyapproximately 1:5000Familial clustering uncommon. Medullary nephrocalcinosis; ′paintbrush′ appearance of renal papillae on intravenous pyelogram.
    orofaciodigital syndromevery rareX-linked dominant inheritance. Lethal in affected male individuals; oral anomalies (hyperplastic frenula, cleft tongue, cleft palate or lip, and malposed teeth); facial anomalies (broad nasal root with hypoplasia of nasal alae and malar bones), and digital anomalies.
Nonsyndromic
    simple renal cystscommonRare under 30 yr but increase in number with age.
    acquired renal cystic diseasecommonChronic renal insufficiency or ESRD with multiple renal cysts associated with normal-sized or small kidneys.
  • a ADPKD, autosomal dominant polycystic kidney disease.