Table 1.

Patient clinical data at the time of dermal biopsy

PKD TypePatient NumberAge at Skin BiopsySexClinical FeaturesSerum Creatinine (mg/dl)Estimated GFR (ml/min per 1.73 m2)Dialysis
Dominant160 yrManNumerous kidney and liver cysts; family history (brother and niece)4.3714No
Dominant244 yrManNumerous kidney and liver cysts; no family history7.418No
Dominant362 yrWomanNumerous kidney and liver cysts; paternal family history (father, brother, grandmother, two uncles, and two cousins)3.6912No
Recessive41 d (expired)BoyBilateral flank masses; oversized kidneys with many elongated cortical cysts/dilated tubules surrounded by normal glomeruli; no hydroureter or hydronephrosis; liver portal fibrosis with cystically dilated biliary ducts; oligohydramnios; pulmonary hypoplasia; bilateral leg contractures at the knees; minor external ear abnormality; no family history
Recessive56 d (expired)GirlRenal failure and pulmonary insufficiency; kidney showed cystic tubular dilatation extending to surface; liver showed portal fibrosis with hamartomatous tortuous bile ducts; nephromegaly with sponge appearance; hyponatremia; hypotension; hyperbilirubinemia; no family history