Shneider B L, Setchell K D, Whitington P F, Neilson K A, Suchy F J
Yale University, Department of Pediatrics, New Haven, CT 06520.
J Pediatr. 1994 Feb;124(2):234-8. doi: 10.1016/s0022-3476(94)70310-8.
Neonatal liver failure was evaluated in two infants. Neither infant had evidence of congenital infection, galactosemia, alpha 1-antitrypsin deficiency, tyrosinemia, Zellweger syndrome, or hemophagocytic lymphohistiocytosis. Abnormal levels of iron were detected in the minor salivary glands of the first infant and in the explanted liver of the second. Analyses of urinary bile salts by fast-atom bombardment ionization mass spectrometry and gas chromatography-mass spectrometry revealed a paucity of primary bile acids and a predominance of 7 alpha-hydroxy-3-oxo-4-cholenoic and 7 alpha,12 alpha-dihydroxy-3-oxo-4-cholenoic acids. These findings are consistent with delta 4-3-oxosteroid 5 beta-reductase deficiency, a primary genetic defect in bile acid synthesis. Postmortem evaluation of the first infant revealed significant iron deposition in the liver, pancreas, thyroid, adrenal glands, myocardium, stomach, and submucosal glands of the respiratory tract. In both infants examination of the liver revealed extensive loss of hepatic parenchyma. These cases expand the clinical spectrum of bile acid metabolism defects to include neonatal liver failure with associated hemochromatosis.
对两名婴儿进行了新生儿肝衰竭评估。两名婴儿均无先天性感染、半乳糖血症、α1 -抗胰蛋白酶缺乏症、酪氨酸血症、齐-韦综合征或噬血细胞性淋巴组织细胞增生症的证据。在第一名婴儿的小唾液腺和第二名婴儿的移植肝脏中检测到铁水平异常。通过快原子轰击电离质谱法和气相色谱 - 质谱法对尿胆汁盐进行分析，结果显示初级胆汁酸缺乏，7α -羟基 - 3 -氧代 - 4 -胆烯酸和7α,12α -二羟基 - 3 -氧代 - 4 -胆烯酸占主导。这些发现与δ4 - 3 -氧代类固醇5β -还原酶缺乏症一致，这是胆汁酸合成中的一种原发性基因缺陷。对第一名婴儿的尸检显示肝脏、胰腺、甲状腺、肾上腺、心肌、胃和呼吸道黏膜下腺有大量铁沉积。对两名婴儿的肝脏检查均显示肝实质广泛丧失。这些病例扩展了胆汁酸代谢缺陷的临床谱，使其包括伴有血色素沉着症的新生儿肝衰竭。
