Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Asthma
- Pharmacology and Therapeutics
- Gastroenterology
- Lung Cancer
- Urology Cases
- Infectious Disease
- Nephrology
- Medical Radiography
Abstract
Citation: Ann Clin Case Rep. 2024;9(1):2608.DOI: 10.25107/2474-1655.2608
A Case of Familial Abnormal Albumin Hyperthyroxinemia in a Child
Zhao W, Pi Y*, Zhang Y, Li Y and Zhang H
Department of Pediatrics, The Second Hospital of Hebei Medical University, China
PDF Full Text Case Report | Open Access
Abstract:
A 4-year-old girl was admitted to the Department of Pediatrics of the Second Hospital of Hebei Medical University in July 2021 because of “elevated FT4 on physical examination.” Repeated laboratory examinations and genetic testing identified the presence of a heterozygous mutation, c.725G>A (P.R218H), in exon 7 of the Albumin (ALB) gene, and the diagnosis of familial abnormal albumin hyperthyroxinemia was confirmed. The patient is currently in a good general condition and does not require pharmacologic intervention. Because cases of familial abnormal albumin hyperthyroxinemia are rarely reported in China, it is important to raise clinicians’ awareness to increase the diagnosis of this disease.
Keywords:
Familial abnormal albumin hyperthyroxinemia; Albumin gene; Thyroid binding protein
Cite the Article:
Zhao W, Pi Y, Zhang Y, Li Y, Zhang H. A Case of Familial Abnormal Albumin Hyperthyroxinemia in a Child. Ann Clin Case Rep. 2024; 9: 2608.
