ISSN: 1305-385X
Hakkında: Özel sayılar şeklinde yayınlanır.
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Autosomal Recessive Polycystic Kidney Disease
Dr. Lale SEVERa
aÇocuk Nefrolojisi BD, İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi, İSTANBUL
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterized by cystic dilatations of renal collecting ducts and hepatic ductal plate dysgenesis. The disease has an estimated incidence of 1:20.000 live births. Mutations at a single locus, PKHD1, are responsible for all forms of ARPKD. The patients have different phenotypic manifestations in respect of age at presentation and relative degrees of renal and hepatic involvement. The majority of patients present in infancy. Some cases demonstrate renal failure and pulmonary hypoplasia in the neonatal period and a subset of patients may present as older children with signs and symptoms of hepatic disease. Today, many patients with ARPKD are detected in utero. Survival rates and prognosis of ARPKD patients have improved in concert with advances in neonatal intensive care and renal replacement therapy. In this review, genetics, diagnostic criteria and clinical course of the disease will be discussed.Keywords: Autosomal recessive polycystic kidney disease, PKHD1Turkiye Klinikleri J Int Med Sci 2005, 1(4):44-48
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