Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study.
10.7499/j.issn.1008-8830.2307114
- VernacularTitle:罕见病研究:GPAA1基因突变导致糖基磷脂酰肌醇生物合成缺陷15型
- Author:
Qiu-Rong CHEN
1
;
Zhen-Jie ZHANG
1
;
Yi-Xiu LU
1
;
Sun-Bi-Xin YUAN
1
;
Ji LI
1
Author Information
1. Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China (Li J, Email: 42115165@qq. com).
- Publication Type:Journal Article
- Keywords:
Child;
Epilepsy;
GPAA1 gene;
Glycosylphosphatidylinositol biosynthesis deficiency 15;
Periodic fever
- MeSH:
Humans;
Male;
Fever;
Glycosylphosphatidylinositols/genetics*;
Membrane Glycoproteins/genetics*;
Mutation;
Rare Diseases;
Seizures;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(12):1276-1281
- CountryChina
- Language:Chinese
-
Abstract:
A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the GPAA1 gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by GPAA1 gene mutation in China and summarizes the genetic features, clinical features, diagnosis, and treatment of this disease, which provides a reference for the early diagnosis and treatment of GPIBD15.
