CURRENT Diagnosis & Treatment: Nephrology & Hypertension, 2009 > Chapter 46.
Cystic Diseases of th
e Kidney
Edgar V. Lerma, Jeffrey S. Berns, Allen R. Nissenson+
Table 46–1. Distinguishing Features of Autosomal Dominant Polycystic Kidney Disease.
Disease Inheritance Extrarenal characteristics Renal manifestations
Urine concentration defect; bilateral cystic renal
Early adult onset of HTN; flank pain; gross enlargement; cysts arise from cortex and
ADPKD AD
hematuria; polycystic liver enlargement; SAH medullar; nephrolithiasis; renal failure with cystic
disease progression
Infantile “Potter's phenotype”; infantile HTN; Large kidneys; bilateral fusiform collecting duct
ARPKD AR portal hypertension: esophageal and gastric dilation; urine concentration defect; chronic renal
varices; hypersplenism failure
Normal sized or small kidneys; cysts arise from
ACKD Not inherited Longstanding renal failure; risk of renal cancer cortex; cyst wall calcification, papillary
cystadenomas and renal cancer
Glomerulocystic kidney disease AD (some) Heterogeneous group of diseases Cysts arise from the Bowman's capsules
Simple renal cysts Not inherited Associated with aging Identified incidentally
Prominent skin lesions; CNS: Giant cell
astrocytomas and cortical tubers; cardiac Cysts; renal angiomyolipomas; renal carcinomas
Tuberous sclerosis complex (TSC) AD
rhabdomyomas; pulmonary (rare)
lymphangioleiomyomatosis
No skin lesion; retinal and CNS
von Hippel–Lindau disease (VHL) AD hemangioblastomas; pheochromocytomas; Cysts; renal cell carcinomas (common)
pancreatic cysts
Cleft tongue and palate; broad nasal root; digital
Orofacial syndrome type 1 X-linked dominant Cysts (may resemble ADPKD)
abnormalities
Medullary cystic disease AD Hyperuricemia Adult onset of renal failure
Nephronophthisis AR Retinal degeneration (retinitis pigmentosa) Childhood or adolescent onset of renal failure
Papillary calcifications and renal stones; normal
Medullary spongy disease Usually not familial
glomerular filtration rate
ADPKD, autosomal dominant polycystic kidney disease; ARPKD, autosomal recessive polycystic kidney disease; AD, autosomal dominant; AR, autosomal recessive; HTN, hypertension; SAH, subarachnoid
hemorrhage; CNS, central nervous system.
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