PHKA2相关糖原累积症Ⅸa型一例  

PHKA2-related glycogen storage disease type Ⅸa:a case report

作　　者：米雪 都修波[2] 常琳琳 谭泽圆 马丙祥[2] 郑宏[2] Mi Xue;Du Xiubo;Chang Linlin;Tan Zeyuan;Ma Bingxiang;Zheng Hong(Henan University of Chinese Medicine,Zhengzhou 450046,China)

机构地区：[1]河南中医药大学,郑州450046 [2]河南中医药大学第一附属医院,郑州450000

出　　处：《新医学》2020年第12期962-965,共4页Journal of New Medicine

基　　金：河南省中医管理局国家中医临床研究基地专项课题(2018JDZX060);河南省中医药科学研究专项课题(2019ZY2134)。

摘　　要：糖原累积症Ⅸa型(GSD Ⅸa)是由PHKA2基因杂合突变引起的X连锁隐性遗传病。该文报道1例GSD Ⅸa型患儿的临床资料并复习相关文献。该例患儿男,9月龄,因“运动发育落后、发现肝酶升高3个月”就诊,临床表现为翻身不灵活,不能独坐,ALT 84.0 U/L,AST 120.2 U/L,AST同工酶33.6 U/L,总蛋白57.9 g/L,白蛋白42.1 g/L,球蛋白15.8 g/L,彩色多普勒超声检查(彩超)示肝脏增大。基因检测显示患儿PHKA2基因c.3143C>T(p.T1048M)半合子突变,突变来自于杂合子母亲,为错义突变。结合患儿临床特征和基因突变测序结果,确诊为GSD Ⅸa型。遂予患儿口服生玉米淀粉每日4次、餐间服用,予口服葡醛内酯片、复方甘草酸苷片等护肝。5个月后随访,患儿肝功能较前明显改善,复查ALT 40.0 U/L,未复查肝脏彩超,运动发育基本与同龄正常儿童相同。Glycogen storage syndrome type Ⅸa(GSD Ⅸa) is an X-linked recessive genetic disease caused by heterozygous mutation of PHKA2 gene. In this article, clinical data of a child with GSD Ⅸa were reported and related literature review was conducted. The boy aged 9 months was admitted to our hospital due to delayed development and hypertransaminasemia for 3 months. As for clinical manifestations, the boy could not turn over agilely or sit stably by himself. The ALT level was 84.0 U/L, 120.2 U/L for AST, 33.6 U/L for AST isoenzyme, 57.9 g/L for total protein, 42.1 g/L for albumin and 15.8 g/L for globulin, respectively. Color Doppler ultrasound showed liver enlargement. Genetic testing showed that the child had a hemizygous mutation of c.3143C > T(p.T1048M) in the PHKA2 gene, it was a missense mutation from a heterozygous mother. The diagnosis of GSD Ⅸa was confirmed combined with the clinical characteristics and gene mutation sequencing results. The child was orally given with raw corn starch four times a day between meals, and glucurolactone tablets and compound glycyrrhizin tablets to protect the liver. After 5-month follow-up, the liver function of the child was significantly improved. The ALT level was detected as 40.0 U/L. Color Doppler ultrasound was not performed. Physical development of the child was basically the same as normal counterparts of the same age.

关 键 词：糖原累积症Ⅸa型 PHKA2基因 发育落后 肝脏肿大 肝酶高 

分 类 号：R589.1[医药卫生—内分泌]