臨牀透析 Vol.25 No.4(6)


特集名 先天性腎疾患と腎不全
題名 囊胞腎(ARPKD)
発刊年月 2009年 04月
著者 三浦 健一郎 東京大学医学部小児科
【 要旨 】 常染色体劣性多発性囊胞腎(ARPKD)は主として乳児期に両腎腫大,腎実質のエコー輝度上昇,腎機能障害にて発症する遺伝性疾患であり,先天性肝線維症や肝内胆管の状拡張(Caroli病)を合併する.原因遺伝子は6番染色体上のPKHD1である.新生児期に肺低形成,腎不全を呈する例は重篤であるが,この時期を過ぎれば生命予後は比較的良好とされる.年長児では腎不全への対応とともに,門脈圧亢進症としての食道静脈瘤の管理,Caroli病においては胆管炎への対処が必要となる.腎移植,肝移植は治療の有力な選択肢であるが,個々の病態や社会的環境に応じて治療方針を決定していく必要がある.
Theme Congenital Kidney Disease and Renal Failure
Title Autosomal recessive polycystic kidney disease (ARPKD)
Author Ken-ichiro Miura Department of Pediatrics, the University of Tokyo
[ Summary ] Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral renal enlargement, hyperechogenicity of renal parenchyma, and impairment of renal functions. It is commonly accompanied by congenital hepatic fibrosis and/or saccular dilatation of the intrahepatic bile ducts (Caroli's disease). The gene for ARPKD is PKHD1 located on chromosome 6p12, which encodes a protein called fibrocystin/polyductin. While the prognosis for neonates who suffer from pulmonary hypoplasia and end stage renal failure is grave, favorable long term outcomes have been reported in patients who have survived neonatal conditions. Older children often present with esophageal varices due to portal hypertension as well as progressive renal failure and hypertension.Clinical manifestations of Caroli’s disease are recurrent bouts of cholangitis. While kidney and/or liver transplantations are potential treatment modalities for ARPKD, individual patient conditions and family background should also be considered to decide on courses of treatment.
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