糖原贮积病Ib型(GSDIb)是由SLC37A4基因突变引起的常染色体隐性遗传疾病,其编码葡萄糖6-磷酸转位酶(G6PT)。G6PT功能异常导致肝脏脂肪和糖原过多,肾,和肠粘膜。GSD1b的临床表现包括肝肿大,肾肿大,中性粒细胞减少症,低血糖,和乳酸性酸中毒.此外,该疾病可能导致长期严重的并发症,包括炎症性肠病(IBD),肝细胞腺瘤(HCA),身材矮小,和自身免疫性疾病,这源于中性粒细胞减少和中性粒细胞功能障碍。这里,我们在一个5个月的女孩中代表了SLC37A4的新突变,该女孩有多次因反复感染而住院的病史,她的早期表现是不能茁壮成长和呼吸急促.进一步的调查显示有轻度房间隔缺损,左肺轻度动静脉畸形,食管反流,马蹄肾,和这个病人的尿反流。此外,实验室检查显示中性粒细胞减少症,免疫球蛋白(Ig)G和IgA缺乏,以及血小板增多症。全外显子组测序显示SLC37A4基因c.1245G>AP.W415纯合突变,PIK3CD基因c.580G>Ap.V1941杂合突变。这项研究表明,GSD1b的表现可能不限于以前已知的,应该在更广泛的患者中考虑。
Glycogen storage disease type Ib (GSDIb) is an autosomal recessive disorder caused by mutations of SLC37A4 gene, which encodes glucose 6-phosphate translocase (G6PT). Malfunction of G6PT leads to excessive fat and glycogen in liver, kidney, and intestinal mucosa. The clinical manifestations of GSD1b include hepatomegaly, renomegaly, neutropenia, hypoglycemia, and lactic acidosis. Furthermore, the disorder may result in severe complications in long-term including inflammatory bowel disease (IBD), hepatocellular adenomas (HCA), short stature, and autoimmune disorders, which stem from neutropenia and neutrophil dysfunction. Here, we represent a novel mutation of SLC37A4 in a 5-month girl who has a history of hospitalizations several times due to recurrent infection and her early presentations were failure to thrive and tachypnea. Further investigations revealed mild atrial septal defect, mild arteriovenous malformation from left lung, esophageal reflux, Horseshoe kidney, and urinary reflux in this patient. Moreover, the lab tests showed neutropenia, immunoglobulin (Ig) G and IgA deficiency, as well as thrombocytosis. Whole exome sequencing revealed c.1245G > A P.W415 homozygous mutation in SLC37A4 gene and c.580G > A p.V1941 heterozygous mutation in PIK3CD gene. This study shows that manifestations of GSD1b may not be limited to what was previously known and it should be considered in a wider range of patients.