クリグラー・ナジャール症候群（クリグラー・ナジャールしょうこうぐん、クリグラー・ナジャー症候群とも、英語: Crigler–Najjar syndrome）は、赤血球の破壊に伴って生じる化学物質であるビリルビンの代謝に関する希少疾患である。この疾患は非溶血性黄疸の先天性疾患の形をとって生じ、非抱合型ビリルビンの血中濃度が高値になって、しばしば小児では脳障害（核黄疸）へと至 … Webクリグラー＝ナジャー症候群 （読み）クリグラー＝ナジャーしょうこうぐん （英語表記）Crigler-Najjar's syndrome ブリタニカ国際大百科事典 小項目事典 の解説

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WebAug 2, 2016 · Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body. Bilirubin is an orange-yellow … WebLa enfermedad de Crigler-Najjar se debe a una mutación en un gen (UGT1). Este gen está encargado de formar una enzima que transforma la bilirrubina de la sangre (bilirrubina no conjugada o ... trace mziki top 30 list

疾患詳細 - NCCHD

WebAug 12, 2002 · Crigler-Najjar types I and II are autosomal recessive disorders associated with near (type II) or complete absence (type I) of UGT 1 A 1 enzyme activity. There is a persistent unconjugated hyperbilirubinemia (range 300-850 μmol/l) with the plasma concentrations being higher in type I than in type II. Genetic mutations in exon 1-5 cause … WebFeb 28, 2024 · Crigler-Najjar syndrome (CNS), named for the two physicians who first described the condition in 1952, John Crigler and Victor Najjar, is a rare, life-threatening … WebCrigler-Najjar syndrome is a rare hereditary disease found in children in which a substance processed by the liver, called bilirubin, cannot be changed into its water-soluble form (conjugated bilirubin). The unconjugated bilirubin collects in the child’s liver and spleen, enters circulation, and then builds up in other tissues such as the ... trace sjdm