Autosomal Recessive Polycystic Kidney Disease : A Rare Clinical Entity
نویسندگان
چکیده
Recessive (infantile) polycystic kidney disease is a rare inherited disorder with cystic dilations of the renal collecting ducts frequently associated with hepatic involvement. The gene responsible for this disease, PKHD1, located on the short arm of chromosome 6, has recently been identified. Autosomal recessive polycystic kidney disease is a rare entity with an incidence of 1:10,000 to 1:40,000. It can be diagnosed in the antenatal period when ultrasonography shows hyper echogenic, enlarged kidneys along with oligohydramnios.
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