Zhang Jiangwei, Yuan Yuheng, Ma Mingsheng, Liu Yan, Zhang Weimin, Yao Fengxia, Qiu Zhengqing
Department of Pediatrics, Peking University International Hospital, Beijing 102206, China.
Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
Gene. 2017 Sep 5;627:149-156. doi: 10.1016/j.gene.2017.06.026. Epub 2017 Jun 13.
Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research. In conclusion, glycogen storage disease type IXa is a mild disorder with a favorable prognosis, and there was no relationship between genotype and phenotype of this disease.
IXa型糖原贮积病（GSD）由PHKA2基因突变引起，约占所有IX型GSD病例的75%。在此，我们首先总结了17例疑似患有IXa型GSD的中国男性患者的临床资料，并分析了其PHKA2基因。我们患者的临床症状包括肝肿大、生长发育迟缓及肝功能障碍。临床和生化表现随年龄增长有所改善甚至消失。我们在17例患者中检测到14种突变，包括8种新突变；外显子2和4是本研究中的热点区域。总之，IXa型糖原贮积病是一种预后良好的轻度疾病，且该疾病的基因型与表型之间无相关性。
