Moravej Hossein, Amirhakimi Anis, Showraki Alireza, Amoozgar Hamid, Hadipour Zahra, Nikfar Ghasem
Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Iran J Med Sci. 2018 Mar;43(2):218-222.
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the () gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme. To date, approximately 400 pathogenic mutations have been reported in the gene. The aim of this study is to report a novel nonsense mutation in exon 4 of gene in an Iranian child suffering from IOPD. The patient was a female neonate with hypertrophic cardiomyopathy and a positive family history of IOPD. After definite diagnosis, enzyme-replacement therapy (ERT) was started for the patient, who was 2 months old. Now at the age of 20 months, she has had good growth and development and her echocardiographic parameters are within the normal range. This report shows that IOPD patients with this mutation can be treated with ERT successfully.
庞贝病（PD），也称为“II型糖原贮积病（OMIM # 232300）”，是一种罕见的常染色体隐性疾病，其特征是细胞溶酶体中糖原进行性积累，最终导致细胞损伤。婴儿型庞贝病（IOPD）是该疾病最严重的类型，其特征为严重的肥厚型心肌病和全身性肌张力减退。位于17q25.3位点的（）基因突变导致该疾病，致使酸性α-葡萄糖苷酶活性降低。迄今为止，该基因已报道了约400种致病突变。本研究的目的是报告一名患有IOPD的伊朗儿童中该基因第4外显子的一种新型无义突变。该患者为一名患有肥厚型心肌病且有IOPD家族史阳性的女性新生儿。确诊后，对2个月大的该患者开始进行酶替代疗法（ERT）。现在患者20个月大，生长发育良好，其超声心动图参数在正常范围内。本报告表明，具有这种突变的IOPD患者可以通过ERT成功治疗。
