Vanduangden Jaravee, Ittiwut Rungnapa, Ittiwut Chupong, Phewplung Teerasak, Sanpavat Anapat, Sintusek Palittiya, Suphapeetiporn Kanya
Department of Pediatrics, Chulalongkorn University, Bangkok 10330, Thailand.
Center of Excellence for Medical Genomics, Department of Pediatrics, Excellence Center for Genomics and Precision Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
World J Clin Pediatr. 2024 Dec 9;13(4):100493. doi: 10.5409/wjcp.v13.i4.100493.
Thus far, genetic analysis of patients clinically diagnosed with glycogen storage diseases (GSDs) in Thailand has not been reported.
To evaluate the clinical and biochemical profiles, molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD.
Children aged < 18 years diagnosed with hepatic GSD and followed up at King Chulalongkorn Memorial Hospital were recruited. Whole-exome sequencing (WES) was performed to identify the causative gene variants. Medical records were assessed.
All eight children with histopathologically confirmed diagnosis were classified by WES into subtypes Ia ( = 1), III ( = 3), VI ( = 3), and IX ( = 1). A total number of 10 variants were identified including ( = 1), ( = 4), ( = 5), and ( = 1). had two novel variants. The clinical manifestations were hepatomegaly ( = 8), doll-like facies ( = 3), wasting ( = 2), and stunting ( = 5). All patients showed hypoglycemia, transaminitis, and dyslipidemia. The mainstay of treatment was cornstarch supplementation and high-protein and low-lactose-fructose diet. After a median follow-up time of 9.59 years, height turned to normal for age in 3/5 patients and none had malnutrition. Liver enzymes, blood sugar, and lipid profiles improved in all.
Hepatomegaly, transaminitis, and hypoglycemia are the hallmarks of GSD confirmed by liver histopathology. Molecular analysis can confirm the diagnosis or classify the subtype that might benefit from personalized treatment, prognosis, and long-term care.
迄今为止，泰国临床诊断为糖原贮积病（GSD）患者的基因分析尚未见报道。
评估泰国诊断为肝糖原贮积病患儿的临床和生化特征、分子分析及长期预后。
招募年龄小于18岁、诊断为肝糖原贮积病并在朱拉隆功国王纪念医院随访的儿童。进行全外显子组测序（WES）以鉴定致病基因变异。评估病历。
所有8例经组织病理学确诊的患儿经WES分类为Ia型（=1）、III型（=3）、VI型（=3）和IX型（=1）。共鉴定出10个变异，包括（=1）、（=4）、（=5）和（=1）。有2个新变异。临床表现为肝肿大（=8）、娃娃脸（=3）、消瘦（=2）和发育迟缓（=5）。所有患者均有低血糖、转氨酶升高和血脂异常。治疗的主要方法是补充玉米淀粉以及高蛋白、低乳糖 - 果糖饮食。中位随访时间9.59年后，3/5的患者身高恢复至正常年龄水平，且无营养不良者。所有患者的肝酶、血糖和血脂谱均有改善。
肝肿大、转氨酶升高和低血糖是经肝脏组织病理学确诊的糖原贮积病的特征。分子分析可确诊或对可能受益于个性化治疗、预后评估及长期护理的亚型进行分类。
