METHODS: A 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis.
METHODS: Based on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a.
METHODS: Uncooked cornstarch therapy was initiated at 2 g/kg every 6 hours.
RESULTS: After 3 years of treatment, the patient\'s height SDS improved from -2.24 to -1.06, with enhanced glycemic control and no complications.
CONCLUSIONS: This case emphasizes considering GSD0a in unexplained short stature and the value of continuous glucose monitoring. Early diagnosis and treatment can optimize growth in GSD0a patients.
方法:一名4岁女孩,尽管以前曾治疗过肾小管酸中毒,但仍表现为持续生长迟缓。
方法:根据临床表现和全外显子组测序结果,患者被诊断为GSD0a.
方法:未煮熟的玉米淀粉治疗以2g/kg每6小时开始。
结果:治疗3年后,患者的身高SDS从-2.24改善至-1.06,血糖控制增强且无并发症。
结论:本案例强调考虑GSD0a身材矮小和连续血糖监测的价值。早期诊断和治疗可以优化GSD0a患者的生长。