臨牀透析 Vol.18 No.5(2-6)


特集名 透析と嚢胞性腎疾患
題名 腎不全と関連する他の嚢胞性腎疾患 (6) 家族性糸球体嚢胞性低形成腎
発刊年月 2002年 05月
著者 佐藤 忠司 佐賀医科大学小児科
【 要旨 】 家族性糸球体嚢胞性低形成腎は糸球体嚢胞腎の1亜型で,家族性にみられることが特徴である.非常にまれで世界で6家系の報告があるにすぎない.本邦において糸球体嚢胞腎の症例報告は比較的多いが,家族内発症は1家系が最近ようやく報告された.一方,遺伝子についてはPKD1,PKD2,HNF-1beta (hepatocyte nuclear factor-1beta), mouse jcpkについて解析が行われたが,共通の異常がなく現在まで原因遺伝子は確定されていない.
Theme Dialysis and Cystic Renal Disease
Title Familial hypoplastic glomerulocystic kidney disease
Author Tadashi Sato Department of Pediatrics, Saga Medical School
[ Summary ] Familial hypoplastic glomerulocystic kidney disease is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function. To date, only six families have been described as being associated with this disease in English language litera ture. In 2001, the first case involving a Japanese family was reported, despite the fact that a number of patients with glomerulocystic kidney disease have sporadically been found in Japan. The molecular genetic etiology is yet to be determined.
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