Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
BMC Med Genomics. 2021 Mar 17;14(1):81. doi: 10.1186/s12920-021-00936-9.
To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib).
This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Five variants of SLC37A4 gene were detected, of which c. 572C > T was the common variant and c. 680G > A was a novel variant. The 3 cases of GSD Ib were mainly affected by liver enlargement, growth retardation, etc., and all had a history of repeated infections. At the onset, patients mainly manifested as mildly elevated alanine-aminotransferase (ALT), accompanied by decreased absolute neutrophil count (ANC), hypertriglyceridemia, and metabolic disorders (hypoglycemia, hyperlactic acidemia, metabolic acidosis, etc.). After long-term treatment by oral uncooked cornstarch, the abnormal liver enzymes gradually returned to normal, and metabolic abnormalities were basically controlled most of the time. With increasing age, ANC of 2 patients decreased progressively, whereas the times of infections was reduced.
We reported 3 cases with GSD Ib and a novel SLC37A4 variant. The possibility of GSD type Ib should be kept on alert when a patient suffers recurrent infections, accompanied by hepatomegaly, elevated liver enzymes, hypoglycemia, dyslipidemia, and metabolic disorders.
研究糖原贮积病 Ib 型（GSD Ib）患者的临床和遗传特征。
本报告回顾性分析了我院收治的 3 例 GSD Ib 患者的临床资料，总结了其发病特点、临床表现、相关检查和治疗以及突变谱。基因测序后，3 例均确诊为 GSD Ib。共检出 SLC37A4 基因 5 种变异，其中 c.572C>T 为常见变异，c.680G>A 为新变异。3 例 GSD Ib 主要受肝肿大、生长迟缓等影响，均有反复感染史。发病时，患者主要表现为丙氨酸氨基转移酶（ALT）轻度升高，伴有绝对中性粒细胞计数（ANC）下降、高甘油三酯血症和代谢紊乱（低血糖、高乳酸血症、代谢性酸中毒等）。长期口服未煮过的玉米淀粉治疗后，异常肝酶逐渐恢复正常，代谢异常基本得到控制。随着年龄的增长，2 例患者的 ANC 逐渐下降，而感染次数减少。
我们报道了 3 例 GSD Ib 患者和一种新型 SLC37A4 变异。当患者反复感染，伴有肝肿大、肝酶升高、低血糖、血脂异常和代谢紊乱时，应警惕 GSD Ib 型的可能性。
