RESOLUTION OF LIVER-BIOPSY ALTERATIONS IN 3 SIBLINGS WITH BILE-ACID TREATMENT OF AN INBORN ERROR OF BILE-ACID METABOLISM (DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY)
RESOLUTION OF LIVER-BIOPSY ALTERATIONS IN 3 SIBLINGS WITH BILE-ACID TREATMENT OF AN INBORN ERROR OF BILE-ACID METABOLISM (DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY)
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DOI：
10.1016/0270-9139(93)90463-w
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发表时间：
1993-11-01
期刊：
影响因子：
13.5
通讯作者：
BALISTRERI, WF
中科院分区：
文献类型：
--
作者：
DAUGHERTY, CC;SETCHELL, KDR;BALISTRERI, WF
同卵双胞胎和他们的兄弟，胆汁淤积从出生，与Δ 4 -3-氧类固醇5 β-还原酶缺乏症，进行了研究，通过一系列肝活检。光谱法记录有缺陷的初级胆汁酸合成和显着增加的水平，非典型的氧代和allo胆汁酸在尿液和血清。口服胆汁酸给药期间，肝细胞胆汁淤积和巨细胞转化与临床和生化恢复平行消退。在双胞胎中，门静脉纤维化稳定在轻度水平;他们在撰写本文时与5岁儿童一样好。他们兄弟在8个月时的随访活检正常，他在3岁时表现良好。在所有三个肝脏超微结构的变化的特点是异常的胆小管，包括小胆栓，憩室和格子状的精心制作的肝细胞膜邻近胆小管，已被证明在随后的活检完全解决。在尿液筛查中发现了另外8例病例，其中只有2例患者在接受胆汁酸治疗后存活。早期诊断和治疗可以改善这种先天性胆汁酸合成缺陷的预后。
Identical male twins and their brother, cholestatic from birth, with DELTA4-3-oxosteroid 5beta-reductase deficiency, were studied by serial liver biopsy. Spectrometry documented defective primary bile acid synthesis and markedly increased levels of atypical oxo and allo bile acids in urine and serum. Hepatocellular cholestasis and giant-cell transformation resolved in parallel with clinical and biochemical recovery during oral bile acid administration. In the twins, portal fibrosis stabilized at a mild level; they are well as 5-yr-olds at this writing. Follow-up biopsy in their brother at 8 mo was normal, and he is doing well at 3 yr of age. Hepatic ultrastructural alterations in all three were characterized by abnormalities of bile canaliculi including small bile plugs, diverticulae and latticelike elaborations of hepatocellular membranes adjacent to bile canaliculi that were shown to have resolved completely on subsequent biopsies. Eight additional cases have been detected on urine screening, only two of these patients have survived, on bile acid therapy. Early diagnosis and treatment improves the prognosis of this otherwise lethal inborn error of bile acid synthesis.