Polycystic kidney disease 1
PKD1

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Description from OMIM

Autosomal dominant polycystic kidney disease has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (PKD2; 613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q22; PKD3 (600666) is caused by mutation in the GANAB gene (104160) on chromosome 11q13; and ARPKD (263200) is caused by mutation in the PKHD1 gene (606702) on chromosome 6p.



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Kidney cysts urinary 100 % 19825331 2011-10-19
Hypertension circulatory 67 % 19825331 2011-10-05
Liver cysts digestive 37 % 19825331 2011-10-05
Kidney failure urinary 30 % 19825331 2011-10-05
Kidney stone urinary 13 % 19825331 2011-10-05
Stroke nervous 2 % 19825331 2011-10-05



List of references:


Clinical pattern of adult polycystic kidney disease in a northeastern region of Italy.
V Corradi, F Gastaldon, G M Virzì, M de Cal, S Soni, C Chionh, D N Cruz, M Clementi, C Ronco,

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder, with a prevalence of 1 : 500 to 1 : 1,000. ADPKD is genetically heterogeneous: the genes involved are PKD1 and PKD2. ADPKD occurs worldwide and in all ethnic groups and is an important cause of CKD Stage 5. Prevalence of ADPKD on renal replacement therapy (RRT) in Italy has been reported to be 8.2%. In the dialysis population of Vicenza, a province in Northeastern Italy, it accounts for 13.4%. The study aims to investigate reasons for the high prevalence of ADPKD in our region and to describe the clinical profile and genetics of these patients.

Clinical nephrology - Oct 2009