Interní Med. 2007; 9(6): 283-287
Polycystic kidney disease
- 1 Klinika nefrologie 1. LF UK a VFN, Praha
- 2 Ústav biologie a lékařské genetiky 1. LF UK a VFN, Praha
Autosomal dominant polycystic kidney disease is the most frequent hereditary renal disease with frequency 1:500. The disease is genetically heterogenous and is caused by mutations in PKD1 gene (on chromosome 16) or in PKD2 gene (on chromosome 4). 54 is the mean age of renal failure for PKD1 patients and 74 years is the mean age of renal failure for PKD2 patients. The diagnosis is based on ultrasound with finding of enlarged kidney filled with cysts. 70% of patients with normal renal function suffer from hypertension. Infection of urinary tract or cysts, nephrolithiasis, hematuria or hemorrhagie into cyst are common renal complication of the disease. This systemic disease has multiple extrarenal complications. The cysts in other organs as in liver, pankreas and spleen are frequently present. The rupture of cerebral aneurysma is the most severe complication. Different therapeutic interventions have been tested recently.
Autosomal recessive polycystic kidney disease is the second commonest cystic hereditary disease. Patiens usually suffer from renal failure during childhood and later from portal hypertension due to liver fibrosis. The disease is caused by mutations in PKHD1 gene (on chromosome 6). The ultrasound findings of parents are normal because of autosomal recessive type of the disease.
Keywords: polycystic kidney disease, gene, hereditary, polycystin
Published: November 9, 2007 Show citation
