Hypertransaminasemia in childhood as a marker of genetic liver disorders
- 2 September 2005
- journal article
- Published by Springer Science and Business Media LLC in The Esophagus
- Vol. 40 (8), 820-826
- https://doi.org/10.1007/s00535-005-1635-7
Abstract
The widespread use of routine biochemical assays has led to increased incidental findings of hypertransaminasemia. We aimed to evaluate the prevalence of different causes of raised aminotransferase levels in children referred to a university department of pediatrics. We investigated 425 consecutive children (age range, 1–18 years) with isolated hypertransaminasemia. All patients had raised aminotransferase levels on at least two occasions in the last month before observation. Cases due to major hepatotropic viruses were excluded. During the first 6 months of observation, 259 children showed normalized liver enzymes. Among the remaining 166 patients with hypertransaminasemia lasting for more than 6 months, 75 had obesity-related liver disease; 51, genetic disorders; 7, autoimmune hepatitis; 5, cholelithiasis; 3, choledochal cyst; and 3, celiac disease. Among the 51 children with genetic disorders, 18 had Wilson disease; 14, muscular dystrophy; 4, alpha-1-antitrypsin deficiency; 4, Alagille syndrome; 4, hereditary fructose intolerance; 3, glycogen storage disease (glycogenosis IX); 2, ornithine transcarbamylase deficiency; and 2, Shwachman’s syndrome. In 22 children, the hypertransaminasemia persisted for more than 6 months in the absence of a known cause. Genetic disease accounted for 12% of cases of isolated hypertransaminasemia observed in a tertiary pediatric department. A high level of suspicion is desirable for an early diagnosis of these disorders, which may present with isolated hypertransaminasemia and absence of typical clinical signs.Keywords
This publication has 35 references indexed in Scilit:
- Hepatitis viruses: A Pandora's box?Journal of Gastroenterology and Hepatology, 2002
- Drug-induced liver diseasesJournal of Hepatology, 2000
- International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitisJournal of Hepatology, 1999
- Incidence of and risk factors for hepatitis A in Italy: public health indications from a 10-year surveillanceJournal of Hepatology, 1997
- Long-Term Treatment of Girls with Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1996
- False diagnosis of chronic non-A, non-B hepatitis hiding a case of glycogen storage diseaseJournal of Hepatology, 1994
- Hepatitis B in children in Italy: Incidence and risk factorsEuropean Journal of Epidemiology, 1994
- Elevated serum aminotransferase activity as an early manifestation of gluten-sensitive enteropathyThe Journal of Pediatrics, 1993
- False diagnosis of non-A/non-B hepatitis hiding two cases of cystic fibrosisEuropean Journal of Pediatrics, 1990
- Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition.Archives of Disease in Childhood, 1990