Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand  

作　　者：Jaravee Vanduangden Rungnapa Ittiwut Chupong Ittiwut Teerasak Phewplung Anapat Sanpavat Palittiya Sintusek Kanya Suphapeetiporn 

机构地区：[1]Department of Pediatrics,Chulalongkorn University,Bangkok 10330,Thailand [2]Center of Excellence for Medical Genomics,Department of Pediatrics,Excellence Center for Genomics and Precision Medicine,Chulalongkorn University,Bangkok 10330,Thailand [3]Department of Pediatrics,Excellence Center of Genomics and Precision Medicine,Bangkok 10330,Thailand [4]Department of Radiology,Chulalongkorn University,Bangkok 10330,Thailand [5]Department of Pathology,Chulalongkorn University,Bangkok 10330,Thailand [6]Center of Excellence in Thai Pediatric Gastroenterology,Hepatology and Immunology,Division of Gastroenterology,Department of Pediatrics,King Chulalongkorn Memorial Hospital,Chulalongkorn University,Bangkok 10330,Thailand [7]Center of Excellence for Medical Genetics,Department of Pediatrics,King Chulalongkorn Mem Hosp,Dept Pediat,Div Med Genet and Metab,Sor Kor Bldg,Chulalongkorn University,Bangkok 10330,Thailand

出　　处：《World Journal of Clinical Pediatrics》2024年第4期25-36,共12页世界临床儿科杂志（英文）

基　　金：Supported by Ratchadaphiseksomphot Fund,Graduate Affairs,Faculty of Medicine,Chulalongkorn University,No.GA66/020;Ratchadaphiseksomphot Fund,Chulalongkorn University,No.RCU_H_64_007_30.

摘　　要：BACKGROUND Thus far,genetic analysis of patients clinically diagnosed with glycogen storage diseases(GSDs)in Thailand has not been reported.AIM To evaluate the clinical and biochemical profiles,molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD.METHODS 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.RESULTS All eight children with histopathologically confirmed diagnosis were classified by WES into subtypes Ia(n=1),III(n=3),VI(n=3),and IX(n=1).A total number of 10 variants were identified including G6PC(n=1),AGL(n=4),PYGL(n=5),and PHKA2(n=1).AGL had two novel variants.The clinical manifestations were hepatomegaly(n=8),doll-like facies(n=3),wasting(n=2),and stunting(n=5).All patients showed hypoglycemia,transaminitis,and dyslipidemia.The mainstay of treatment was cornstarch supplementation and high-protein and low-lactosefructose 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.CONCLUSION 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.

关 键 词：Storage disease HYPOGLYCEMIA PEDIATRIC Whole exome sequencing Novel variants Thailand 

分 类 号：R72[医药卫生—儿科]