一名患有假性醛固酮增多症的新生儿的尿类固醇谱。

Urinary steroid profile of a newborn suffering from pseudohypoaldosteronism.

作者信息

Wolthers B G, Kraan G P, van der Molen J C, Nagel G T, Rouwe C W, Lenting F, Boersma E R

机构信息

Central Laboratory for Clinical Chemistry, University Hospital, Groningen, The Netherlands.

出版信息

Clin Chim Acta. 1995 Apr 30;236(1):33-43. doi: 10.1016/0009-8981(95)06034-7.

DOI:10.1016/0009-8981(95)06034-7

PMID:7664464

Abstract

A case is described of a newborn, admitted to hospital because of severe salt loss at the age of 1 month. Subsequent analysis of urinary steroid excretion, by gas chromatography and gas chromatography-mass spectrometry, revealed that the patient suffered from pseudohypoaldosteronism. However, it was difficult to interpret the results unambiguously, since the first urinary analysis appeared to suggest 21-hydroxylase- or 18-hydroxylase deficiency. The final diagnosis was possible only after detecting high urinary levels of aldosterone and tetrahydroaldosterone. It is concluded that neonatal urinary steroid profiles should be interpreted cautiously in order to arrive at the correct diagnosis.

摘要

本文描述了一例新生儿病例，该新生儿因1个月大时严重失盐入院。随后通过气相色谱法和气相色谱 - 质谱法对尿类固醇排泄进行分析，结果显示该患者患有假性醛固酮增多症。然而，由于首次尿液分析似乎提示存在21 - 羟化酶或18 - 羟化酶缺乏，因此难以明确解读这些结果。只有在检测到尿中醛固酮和四氢醛固酮水平升高后，才得以做出最终诊断。结论是，为了得出正确诊断，应谨慎解读新生儿尿类固醇谱。