Disease spectrum analysis of 1 520 cases with lysosomal storage disorders
10.3760/cma.j.cn101070-20221104-01253
- VernacularTitle:溶酶体贮积症1 520例疾病谱分析
- Author:
Siyu CHANG
1
;
Xiaolan GAO
;
Yu WANG
;
Ting CHEN
;
Xia ZHAN
;
Lianshu HAN
;
Wenjuan QIU
;
Xuefan GU
;
Huiwen ZHANG
Author Information
1. 上海交通大学医学院附属新华医院儿内分泌遗传代谢科，上海市儿科医学研究所，上海 200092
- Keywords:
Lysosomal storage disorders;
Mucopolysaccharidosis;
Sphingolipidoses;
Disease spectrum
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(1):60-63
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the disease spectrum of lysosomal storage disorders(LSDs) and explore the prevalent distributions of different LSD types in one center in Shanghai.Methods:A retrospective analysis was made.A total of 5 476 suspected LSD patients, including 3 415 males and 2 061 females, with a median age of 4 years(1 day to 72 years), were collected from Xinhua Hospital, Shanghai Jiaotong University School of Medicine from August 2008 to May 2022.The activity of different lysosomal enzymes was detected by fluorescent and biochemical methods.Results:A total of 1 520 patients were diagnosed with LSDs, including 972 males and 548 females, with a median age of 4 years(1 day to 59 years), involving 19 different subtypes.Mucopolysaccharidosis(MPS) was the most common type among LSDs, with a frequency of 45.46%(691/1 520), followed by sphingolipidoses [33.88%(515/1 520)] and glycogen storage disease type Ⅱ [16.05%(244/1 520)] successively.MPS Ⅱ was the most common type in MPS, with a frequency of 45.73%(316/691), followed by MPS ⅣA [22.87%(158/691)]. Niemann-Pick A/B, Gaucher, and Krabbe diseases were common in Sphingolipidoses patients, with frequencies of 37.09%(191/515), 34.37%(177/515), and 10.29%(53/515), respectively.Conclusions:LSDs are common genetic metabolic diseases, especially MPS and sphingolipidoses.Newborn screening for LSDs should be carried out timely so that the patients can be treated early and their prognosis can be improved.
