Screening and analysis of clinical and genetic characteristics of hereditary tyrosinemia type I in Shanghai area
10.3760/cma.j.cn431274-20240123-00152
- VernacularTitle:上海地区遗传性酪氨酸血症Ⅰ型的筛查及临床、遗传学特点分析
- Author:
Wei JI
1
;
Guoli TIAN
1
;
Yanmin WANG
1
;
Xiaofen ZHANG
1
;
Zhuo ZHOU
1
;
Jing GUO
1
Author Information
1. 上海市儿童医院 上海交通大学医学院附属儿童医院新生儿筛查中心，上海 200040
- Publication Type:Journal Article
- Keywords:
Neonatal screening;
Hereditary tyrosinemia type Ⅰ
- From:
Journal of Chinese Physician
2025;27(1):76-80
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the screening, clinical and genetic characteristics and prognosis of hereditary tyrosinemia type Ⅰ (HT-Ⅰ) in some areas of Shanghai, and to summarize the relevant characteristics of Chinese cases reported at home and abroad.Methods:From December 2010 to May 2023, the clinical data of children diagnosed with HT-Ⅰ by tandem mass spectrometry combined with genetic detection in Neonatal Screening Center of Shanghai Children′s Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:A total of 282 149 neonates were screened for genetic metabolic disease by tandem mass spectrometry, and 1 case of HT-Ⅰ was diagnosed, with an incidence of 1∶282 149. Complex heterozygous mutations of FAH genes c. 974C>T and c. 22G>T were found by genetic testing. c. 22G>T was not reported as a new mutation. Diet and drug therapy were given immediately after diagnosis. At present, the follow-up was up to 8 months, and the physical and intellectual development were normal. A total of 32 literatures meeting the inclusion criteria were obtained through database search, and 46 cases of HT-Ⅰ Chinese children were reported. Most of the clinical manifestations were abdominal distension, poor appetite, jaundice, etc., accompanied by different degrees of abnormal coagulation function, hepatosplenomegalysis, cirrhosis and even liver failure. A total of 25 alleles were reported, and the variation of c. 455G>A was the most common. Conclusions:HT-Ⅰ is rare in the population of Shanghai, China, and new mutations enrich the variation spectrum of HT-Ⅰ, which provides basis for family genetic counseling and prenatal diagnosis of children.
