临床儿科杂志
臨床兒科雜誌
림상인과잡지
2015年
4期
301-305
,共5页
胆汁酸合成障碍%黄疸%遗传代谢性疾病%酶缺陷病%婴幼儿
膽汁痠閤成障礙%黃疸%遺傳代謝性疾病%酶缺陷病%嬰幼兒
담즙산합성장애%황달%유전대사성질병%매결함병%영유인
bile acid synthesis defect%jaundice%inherited metabolic disease%enzyme deifciency%infant
由酶缺陷引起的先天性胆汁酸合成障碍是罕见的遗传代谢性疾病，大多属于常染色体隐性遗传病，临床表现为进行性胆汁淤积性肝病、神经系统病变及脂溶性维生素吸收不良等。其中进行性胆汁淤积性肝病的特点是结合胆红素升高、转氨酶升高、γ谷氨酸转移酶正常，组织活检显示为巨细胞性肝炎；神经系统病变在儿童晚期或成年后出现，即痉挛性瘫痪。胆汁酸替代治疗对上述两种病变有效，因此早期诊断十分重要。文章总结胆汁酸合成障碍的病理生理、临床特点以及各种酶缺陷的特点。
由酶缺陷引起的先天性膽汁痠閤成障礙是罕見的遺傳代謝性疾病，大多屬于常染色體隱性遺傳病，臨床錶現為進行性膽汁淤積性肝病、神經繫統病變及脂溶性維生素吸收不良等。其中進行性膽汁淤積性肝病的特點是結閤膽紅素升高、轉氨酶升高、γ穀氨痠轉移酶正常，組織活檢顯示為巨細胞性肝炎；神經繫統病變在兒童晚期或成年後齣現，即痙攣性癱瘓。膽汁痠替代治療對上述兩種病變有效，因此早期診斷十分重要。文章總結膽汁痠閤成障礙的病理生理、臨床特點以及各種酶缺陷的特點。
유매결함인기적선천성담즙산합성장애시한견적유전대사성질병，대다속우상염색체은성유전병，림상표현위진행성담즙어적성간병、신경계통병변급지용성유생소흡수불량등。기중진행성담즙어적성간병적특점시결합담홍소승고、전안매승고、γ곡안산전이매정상，조직활검현시위거세포성간염；신경계통병변재인동만기혹성년후출현，즉경련성탄탄。담즙산체대치료대상술량충병변유효，인차조기진단십분중요。문장총결담즙산합성장애적병리생리、림상특점이급각충매결함적특점。
Inborn errors of bile acid synthesis caused by enzyme defects are inherited metabolic rare diseases and mostly belong to the autosomal recessive hereditary diseases. They are clinically manifested as progressive cholestasis liver disease, neurological disorders, and fat-soluble vitamin malabsorption. The progressive cholestasis liver disease is characterized by conju-gated hyperbilirubinaemia with raised transaminase, but normal γ-glutamyl transpeptidase (γ-GT), and a biopsy specimen shows giant cell hepatitis. The neurological disorders usually present with childhood-onset or adult-onset spastic paraplegia. Early diag-nosis is important because oral administration of bile acids is effective for two disorders above. This article reviews pathophyso-logy, clinical features and various enzyme defects of inborn errors of bile acid synthesis.
