Distinctive Features of Hepatic Steatosis in Children: Is It Primary or Secondary to Inborn Errors of Metabolism?
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Purpose: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. Methods: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. Results: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. Conclusion: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.
Abstract
Purpose: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. Methods: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. Results: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. Conclusion: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.
참고문헌 (29)
- Hourigan SK, "The full spectrum of hepatic steatosis in children", Clin Pediatr(Phila), 54, pp.635~642 (2015)
- Silva GH, "Steatosis of indeterminate cause in a pediatric group: is it a primary mitochondrial hepatopathy?", Sao Paulo Med J, 129, pp.217~223 (2011)
- Alfani R, "Pediatric fatty liver and obesity : not always justa matter of non-alcoholic fatty liver disease", Children(Basel), 5, pp.169~ (2018)
- Vos MB, "NASPGHAN clinical practice guideline for the diagnosis and treatment of nonalcoholic fatty liver disease in children: recommendations from the Expert Committee on NAFLD (ECON) and the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN)", J Pediatr Gastroenterol Nutr, 64, pp.319~334 (2017)
- Brunt EM, "Nonalcoholic steatohepatitis : definition and pathology", Semin Liver Dis, 21, pp.3~16 (2001)
- Molleston JP, "Obese children with steatohepatitis can develop cirrhosis in childhood", Am J Gastroenterol, 97, pp.2460~2462 (2002)
- Marion AW, "Fatty liver disease in children", Arch Dis Child, 89, pp.648~652 (2004)
- Rashid M, "Nonalcoholic steatohepatitis in children", J Pediatr Gastroenterol Nutr, 30, pp.48~53 (2000)
- Physical status: the use and interpretation of anthropometry, "Report of a WHO Expert Committee", World Health Organ Tech Rep Ser, 854, pp.1~452 (1995)
- Barlow SE, "Expert committee recommendations regarding the prevention, assessment, and treatment of child and adolescent overweight and obesity: summary report", Pediatrics, 120(Suppl 4), pp.S164~S192 (2007)
- Alisi A, "Pediatric nonalcoholic fatty liver disease in 2009", J Pediatr, 155, pp.469~474 (2009)
- Vajro P, "Diagnosis of nonalcoholic fatty liver disease in children and adolescents : position paper of the ESPGHAN Hepatology Committee", J Pediatr Gastroenterol Nutr, 54, pp.700~713 (2012)
- Schwimmer JB, "Clinical advances in pediatric nonalcoholic fatty liver disease", Hepatology, 63, pp.1718~1725 (2016)
- Fawaz R, "Guideline for the evaluation of cholestatic jaundice in infants: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition", J Pediatr Gastroenterol Nutr, 64, pp.154~168 (2017)
- Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents, "Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report", Pediatrics, 28(Suppl 5), pp.S213~S256 (2011)
- Mogahed EA, "Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years", Eur J Pediatr, 179, pp.719~726 (2020)
- Waters D, "Global birth prevalence and mortality from inborn errors of metabolism : a systematic analysis of the evidence", J Glob Health, 8, pp.021102~ (2018)
- 2018 Turkey demographic and health survey, "Hacettepe University Institute of Population Studies", Hacettepe University Institute of Population Studies, ~ (2019)
- Mak CM, "Inborn errors of metabolism and expanded newborn screening : review and update", Crit Rev Clin Lab Sci, 50, pp.142~162 (2013)
- Schwimmer JB, "Prevalence of fatty liver in children and adolescents", Pediatrics, 118, pp.1388~1393 (2006)
- Anderson EL, "The prevalence of non-alcoholic fatty liver disease in children and adolescents: a systematic review and meta-analysis", PLoS One, 10, pp.e0140908~ (2015)
- Mencin AA, "Nonalcoholic fatty liver disease in children", Curr Opin Clin Nutr Metab Care, 14, pp.151~157 (2011)
- Schwimmer JB, "Paediatric gastroenterology evaluation of overweight and obese children referred from primary care for suspected non-alcoholic fatty liver disease", Aliment Pharmacol Ther, 38, pp.1267~1277 (2013)
- Di Sessa A, "Pediatric non-alcoholic fatty liver disease : current perspectives on diagnosis and management", Pediatric Health Med Ther, 10, pp.89~97 (2019)
- Karanjia RN, "Hepatic steatosis and fibrosis : non-invasive assessment", World J Gastroenterol, 22, pp.9880~9897 (2016)
- Lee SS, "Radiologic evaluation of nonalcoholic fatty liver disease", World J Gastroenterol, 20, pp.7392~7402 (2014)
- Esterson YB, "Radiologic imaging in nonalcoholic fatty liver disease and nonalcoholic steatohepatitis", Clin Liver Dis, 22, pp.93~108 (2018)
- Aly FZ, "Update on fatty liver disease and steatohepatitis", Adv Anat Pathol, 18, pp.294~300 (2011)
- Kristiansen MNB, "Molecular characterization of microvesicular and macrovesicular steatosis shows widespread differences in metabolic pathways", Lipids, 54, pp.109~115 (2019)