Neonatal cholestasis with increased 3β-monohydroxy-Δ5 bile acids in serum and urine: Not necessarily primary oxysterol 7α hydroxylase deficiency

被引：5

作者：

Kimura, Akihiko ^{[1
]}

Nittono, Hiroshi ^{[2
]}

Mizuochi, Tatsuki ^{[1
]}

Ueki, Isao ^{[1
]}

Kurosawa, Takao ^{[3
]}

Muto, Akina ^{[2
]}

Takei, Hajime ^{[2
]}

机构：

[1] Kurume Univ, Dept Pediat & Child Hlth, Sch Med, Kurume, Fukuoka 8300011, Japan

[2] Junshin Clin, Bile Acid Inst, Tokyo, Japan

[3] Hlth Sci Univ Hokkaido, Fac Pharmaceut Sci, Sapporo, Hokkaido, Japan

来源：

CLINICA CHIMICA ACTA | 2012年 / 413卷 / 19-20期

基金：

日本学术振兴会;

关键词：

Inborn error of bile acid synthesis; 3 beta-Hydroxy-5-cholestenoic acid; 27-Hydroxycholesterol; 7; ALPHA-HYDROXYLASE; LIVER-DISEASE; 7-ALPHA-HYDROXYLASE GENE; INBORN-ERRORS; IDENTIFICATION; DISRUPTION; MUTATION; PATIENT; MICE;

D O I：

10.1016/j.cca.2012.05.016

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background: Inborn errors of bile acid synthesis are rare genetic disorders that can present with cholestatic liver disease. Recently we encountered 3 infants with neonatal cholestasis and excessive 3 beta-monohydroxy-Delta(5)-C-24 bile acids in serum and urine. We investigated whether identification of 3 beta-hydroxy-5-cholestenoic acid and 27-hydroxycholesterol in serum and urine of cholestatic patients is necessary for diagnosis of primary oxysterol 7 alpha-hydroxylase deficiency. Methods: These 3 patients initially led us to suspected oxysterol 7 alpha-hydroxylase deficiency. However, sequence analysis of genomic DNA resulted in diagnosis of 2 patients with oxysterol 7 alpha-hydroxylase deficiency and 1 patient with 3 beta-hydroxy-Delta(5)-C-27-steroid dehydrogenase/isomerase deficiency. We examined identification of 3 beta-hydroxy-5-cholestenoic acid and 27-hydroxycholesterol by gas chromatography-mass spectrometry after diagnosis. Results: Interestingly, we detected a peak for 3 beta-hydroxy-5-cholestenoic acid in serum and 27-hydroxycholesterol of the neutral sterol in urine from 2 patients who were diagnosed with primary oxysterol 7 alpha-hydroxylase deficiency. Conclusion: In evaluating infants with cholestasis and excessive 3 beta-monohydroxy-Delta(5)-C-24 bile acids in infancy, one needs to conduct C-24 bile acid analysis serially. Results can guide performance and interpretation of genomic DNA analysis. Moreover, identification of 3 beta-hydroxy-5-cholestenoic acid in serum and 27-hydroxycholesterol in urine is highly important for diagnosis of oxysterol 7 alpha-hydroxylase deficiency as is genomic DNA analysis. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：1700 / 1704

页数：5