Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant polycystic kidney disease

ADPKD is an autosomal dominant disorder caused by mutations in one of the genes PKD1 or PKD2. It manifests in adults and one half of patient develop end stage renal disease.

Epidemiology

The estimated prevalence is between 1 one in 500 to 1 in 2000.

Symptoms

Renal cysts
Bilateral renal an hepatic cysts are the pathognomonic sign of ADPKD. They allow a definit diagnosis after 40 years of age though.
Hepatic fibrosis
Sometimes in ADPKD a CHF may develop as usually observed in ARPKD.

Systematic

Cystic kidney disease
Alagille syndrome 2
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 1
PKD1
Polycystic kidney disease 2
PKD2
Polycystic kidney disease 3
GANAB
Polycystic kidney disease 6
DNAJB11
Autosomal recessive polycystic kidney and hepatic disease 1
Branchiootorenal dysplasia
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hajdu-Cheney syndrome
Medullary cystic disease complex
Polycystic kidney disease with hyperinsulinemic hypoglycemia
Renal cysts and diabetes (RCAD)

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Orphanet article

Orphanet ID 730 [^]
103.

Wikipedia article

Wikipedia EN (Autosomal_dominant_polycystic_kidney_disease) [^]
Update: May 9, 2019