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

Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study

摘要:

6岁男性患儿，因发育迟缓6年，反复发热、抽搐5年就诊。患儿3月龄时发现精神运动发育落后，1岁起出现反复发热、抽搐，伴间断口腔溃疡及扁桃体化脓，发热期间查血白细胞计数、C反应蛋白、红细胞沉降率升高，热退后正常，脑电图提示癫痫，基因检测提示GPAA1基因存在复合杂合突变。最终该患儿诊断为糖基磷脂酰肌醇生物合成缺陷15型（glycosylphosphatidylinositol biosynthesis deficiency 15, GPIBD15）、周期性发热。该患儿抗癫痫效果不佳，糖皮质激素治疗对发热有效。该文报道了中国首例GPAA1基因突变导致GPIBD15患儿，对该病基因、临床特点、诊疗等进行归纳总结，为该病的早期诊断、治疗提供参考依据。

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.