Shah Ira, Tolani Drishti, Shetty Naman S, Karkare Vishrutha
Pediatric Liver Clinic, Department of Pediatric Gastroenterology and Hepatology, B J Wadia Hospital for Children, Mumbai, India.
Clin Exp Hepatol. 2020 Feb;6(1):9-12. doi: 10.5114/ceh.2020.93050. Epub 2020 Feb 17.
To determine the prevalence and clinical profile of glycogen storage diseases (GSD) in children in western India.
This retrospective analysis was conducted over a period of 7 years from 2006 to 2012. All children diagnosed with GSD on liver biopsy were included in the study. Their clinical history, examination, biochemical profile and outcome were noted.
Of 751 children, 18 (2.4%) were clinically diagnosed with GSD. Mean age at presentation was 2.3 ±1.3 years. Male : female ratio was 1 : 1. The main presenting features were abdominal distension in 15 (83.3%) patients, hepatomegaly in all 18 (100%), splenomegaly in 11 (61.1%) and jaundice in 2 (11.1%) patients. Four (22.2%) patients had delayed development. Four (22.2%) patients were siblings to an older affected child. Only 1 (5.6%) patient had portal hypertension and 2 (11.1%) had ascites. Only 1 (5.6%) patient had elevated bilirubin levels, 17 (94.4%) had elevated serum glutamic-oxaloacetic transaminase (SGOT) and all 18 (100%) patients had elevated serum glutamic-pyruvic transaminase (SGPT) levels. Nine (69.3%) patients of the 13 tested had acidosis, 1 (9.1%) had elevated uric acid, 2 (11.1%) had neutropenia, 8 (44.4%) experienced hypoglycemia, 4 (22.2%) patients had nephromegaly and only 1 patient showed evidence of cirrhosis in the liver biopsy. Fifteen (83.3%) patients were short. Three out of 6 patients tested had hypertriglyceridemia (50%). One (5.6%) patient died, 9 (50%) patients were lost to followup and the remaining 8 (44.4%) patients continued regular follow-up.
Metabolic acidosis, hypertriglyceridemia, short stature, and hypoglycemia are major problems in children with GSD. Most of the patients are referred late at the time of presentation.
确定印度西部儿童糖原贮积病（GSD）的患病率及临床特征。
本回顾性分析在2006年至2012年的7年期间进行。所有经肝活检确诊为GSD的儿童均纳入研究。记录他们的临床病史、检查、生化指标及转归情况。
751名儿童中，18名（2.4%）临床诊断为GSD。就诊时的平均年龄为2.3±1.3岁。男女比例为1∶1。主要临床表现为腹胀，共15例（83.3%）；肝肿大，18例均有（100%）；脾肿大，11例（61.1%）；黄疸，2例（11.1%）。4例（22.2%）患儿发育迟缓。4例（22.2%）患儿是年长患病同胞的兄弟姐妹。仅1例（5.6%）患儿有门静脉高压，2例（11.1%）有腹水。仅1例（5.6%）患儿胆红素水平升高，17例（94.4%）血清谷草转氨酶（SGOT）升高，18例（100%）血清谷丙转氨酶（SGPT）水平均升高。13例接受检测的患儿中有9例（69.3%）存在酸中毒，1例（9.1%）尿酸升高，2例（11.1%）中性粒细胞减少，8例（44.4%）出现低血糖，4例（22.2%）患儿肾肿大，肝活检仅1例显示有肝硬化迹象。15例（83.3%）患儿身材矮小。6例接受检测的患儿中有3例（50%）有高甘油三酯血症。1例（5.6%）患儿死亡，9例（50%）患儿失访，其余8例（44.4%）患儿继续接受定期随访。
代谢性酸中毒、高甘油三酯血症、身材矮小和低血糖是糖原贮积病患儿的主要问题。大多数患儿在就诊时已延误。
