Familial dysalbuminemic hyperthyroxinemia: One case report and literature review
10.3760/cma.j.cn311282-20200116-00025
- VernacularTitle:家族性白蛋白异常性高甲状腺素血症一例并文献复习
- Author:
Shiwei WANG
1
;
Shiqiao PENG
;
Yushu LI
;
Zhongyan SHAN
Author Information
1. 中国医科大学附属第一医院内分泌与代谢病科，内分泌研究所，沈阳 110001
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(11):961-965
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a patient with familial dysalbuminemic hyperthyroxinemia (FDH). A 38-year-old male occasionally found to have increased FT 4 level with normal FT 3 and TSH on routine physical examination was admitted to our hospital. Thyroid function was rechecked and found that the levels of TT 4, FT 4, rT 3 were increased, while TT 3, FT 3, TSH, TRAb, TPOAb and TGAb were normal. The patient had no other symptoms of thyrotoxicosis except occasional diarrhea. Gene sequencing revealed a heterozygous mutation of c. 653G>A (p.R218H) in exon 7 of albumin (ALB) gene, therefore the patient was confirmed as a case of FDH.
