Marzo 2008 - Volume XXVII - numero 3
Pagine elettroniche ; Caso Contributivo
1Dipartimento di Pediatria, Università di Napoli Federico II
2Dipartimento di Pediatria, Università di Padova
Indirizzo per corrispondenza: riorio@unina.it
Key words: Hypertransaminasemia, Bile Acid CoA:amino acid N-acyltransferase (BAAT), Ursodeoxycholic acid (UDCA), Liver biopsy
We present a case of a 6 year-old boy with chronic hypertransaminasemia referred to our observation at the age of 17 months, with ALT levels of 2,147 IU/L without signs of cholestasis. Main causes of hypertransaminasemia were excluded and liver biopsy showed chronic hepatitis with minimal activity and moderate portal fibrosis. Therapy with ursodeoxycholic acid (UDCA) was started with a rapid normalization of transaminases. UDCA was suspended in 3 circumstances and in all cases a rapid increase in transaminases was observed. The prompt reinstitution of UDCA was always followed by a rapid normalization of liver enzymes. A defect of bile acid synthesis or conjugation was suspected. Evaluation of urinary biliary acid pattern showed a normal profile on UDCA therapy. Although conjugated biliary acids serum levels were in the normal range, the levels were very low in absence of UDCA therapy and increased in UDCA when transaminases were normal. Therefore, a familial hypercholanemia, with associated defect of the Bile Acid CoA: amino acid N-acyltransferase (BAAT) was suspected. At present this hypothesis is under investigation. Even if the diagnosis is not still confirmed, this case suggests the disorder as possible cause of hypertransaminasemia not associated with signs of cholestasis.
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Pagine elettroniche ; Caso Contributivo
Dipartimento Integrato Materno-Infantile, Università di Modena e Reggio Emilia
Indirizzo per corrispondenza: sissimattia@katamail.com
Key words: Progressive osseous heteroplasia, GNAS1, Heterotopic ossification, Calcification
Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep connective tissues during childhood. We report a case of progressive osseous heteroplasia resulting from a de novo mutation in the GNAS1 gene with only the mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia. This new mutation helps extend the genotype-phenotype correlation further.
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