Hypertransaminasemia in childhood as a marker of genetic liver disorders.
BACKGROUND
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Iorio
Raffaele
R
Department of Pediatrics, University of Naples "Federico II", Via Sergio Pansini n. 5, 80131, Naples, Italy.
Sepe
Angela
A
Giannattasio
Antonietta
A
Cirillo
Francesco
F
Vegnente
Angela
A
D000293:Adolescent; D016738:Alagille Syndrome / Q000201:enzymology; D015415:Biomarkers / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005633:Fructose Intolerance / Q000201:enzymology; D030342:Genetic Diseases, Inborn / Q000150:complications; D006008:Glycogen Storage Disease / Q000201:enzymology; D006527:Hepatolenticular Degeneration / Q000201:enzymology; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000201:enzymology; D000637:Transaminases / Q000097:blood*; D019896:alpha 1-Antitrypsin Deficiency / Q000201:enzymology
D015415:Biomarkers; D000637:Transaminases