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家族性白蛋白异常血症导致的高甲状腺素血症和高皮质醇血症。

Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.

机构信息

Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.

Risch Laboratory Group, Lagerstrasse, Buchs, SG, Switzerland.

出版信息

Thyroid. 2020 Nov;30(11):1681-1684. doi: 10.1089/thy.2020.0315. Epub 2020 Aug 25.

DOI:10.1089/thy.2020.0315
PMID:32669045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7692891/
Abstract

A 23-year-old man and his grandmother with hyperthyroxinemia and hypercortisolemia were heterozygous for an mutation (p. Arg218Pro), known to cause familial dysalbuminemic hyperthyroxinemia (FDH). However, serum-free cortisol levels in these individuals were normal and total cortisol concentrations fell markedly after depletion of albumin from their serum. We conclude that binding of steroid as well as iodothyronines to mutant albumin causes raised circulating cortisol as well as thyroid hormones in euthyroid euadrenal individuals with R218P FDH, with potential for misdiagnosis, unnecessary investigation, and inappropriate treatment.

摘要

一名 23 岁男性及其患有高甲状腺素血症和高皮质醇血症的祖母均为 突变（p.Arg218Pro）的杂合子，该突变已知可导致家族性白蛋白异常性甲状腺素血症（FDH）。然而，这些个体的血清游离皮质醇水平正常，且其血清白蛋白耗尽后总皮质醇浓度显著下降。我们的结论是，在 R218P FDH 的甲状腺功能正常肾上腺功能正常个体中，类固醇和甲状腺素与突变白蛋白的结合导致循环皮质醇和甲状腺激素升高，可能导致误诊、不必要的检查和不适当的治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/7692891/3b6db2e67339/thy.2020.0315_figure1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/7692891/3b6db2e67339/thy.2020.0315_figure1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf66/7692891/3b6db2e67339/thy.2020.0315_figure1.jpg

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本文引用的文献

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Interaction of glucocorticoids and progesterone derivatives with human serum albumin.糖皮质激素和孕酮衍生物与人血清白蛋白的相互作用。
Chem Phys Lipids. 2017 Oct;207(Pt B):271-278. doi: 10.1016/j.chemphyslip.2017.04.007. Epub 2017 Apr 21.
2
Inherited defects of thyroxine-binding proteins.甲状腺素结合蛋白的遗传性缺陷。
Best Pract Res Clin Endocrinol Metab. 2015 Oct;29(5):735-47. doi: 10.1016/j.beem.2015.09.002. Epub 2015 Sep 30.
3
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
瑞士一个家族中由突变白蛋白（R218P）引起的家族性异常白蛋白血症性甲状腺素过多症表现出血清浓度与甲状腺素亲和力之间明显的差异。
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4
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.在一个日本家族中，一种独特表型的家族性异常白蛋白血症性甲状腺素结合球蛋白增多症患者的白蛋白基因第218密码子处存在一种新的错义突变。
J Clin Endocrinol Metab. 1997 Oct;82(10):3246-50. doi: 10.1210/jcem.82.10.4276.