Fegato grosso e grasso: Poche diagnosi a cui pensare

M. Mainetti; M. Grassi; A. Zucchini; L. Mambelli; F. Dal Monte; D. Cassandrini; G. Maggiore; F. Marchetti

Fegato grosso e grasso: Poche diagnosi a cui pensare

Translated title of the contribution: Large and fatty liver: Few diagnoses to think of

M. Mainetti, M. Grassi, A. Zucchini, L. Mambelli, F. Dal Monte, D. Cassandrini, G. Maggiore, F. Marchetti

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Abstract

The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest causes of hypertransaminasemia, because of hepatosteatosis, the differential diagnosis is between a possible Wilson's disease and glycogen storage disease VI and IX. Genetic research has revealed a glycogen storage disease type IX from mutation of PHKB gene. This mutation is associated with a good prognosis and it may cause hepatic fibrosis only very rarely. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.

Translated title of the contribution	Large and fatty liver: Few diagnoses to think of
Original language	Italian
Pages (from-to)	533-534
Number of pages	2
Journal	Medico e Bambino
Volume	31
Issue number	8
Publication status	Published - Oct 2012

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest causes of hypertransaminasemia, because of hepatosteatosis, the differential diagnosis is between a possible Wilson's disease and glycogen storage disease VI and IX. Genetic research has revealed a glycogen storage disease type IX from mutation of PHKB gene. This mutation is associated with a good prognosis and it may cause hepatic fibrosis only very rarely. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.",

keywords = "Case report, Glycogen storage disease type IX, Hypertransaminasemia, Molecular analysis",

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T2 - Poche diagnosi a cui pensare

AU - Mainetti, M.

AU - Grassi, M.

AU - Zucchini, A.

AU - Mambelli, L.

AU - Dal Monte, F.

AU - Cassandrini, D.

AU - Maggiore, G.

AU - Marchetti, F.

PY - 2012/10

Y1 - 2012/10

N2 - The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest causes of hypertransaminasemia, because of hepatosteatosis, the differential diagnosis is between a possible Wilson's disease and glycogen storage disease VI and IX. Genetic research has revealed a glycogen storage disease type IX from mutation of PHKB gene. This mutation is associated with a good prognosis and it may cause hepatic fibrosis only very rarely. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.

AB - The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest causes of hypertransaminasemia, because of hepatosteatosis, the differential diagnosis is between a possible Wilson's disease and glycogen storage disease VI and IX. Genetic research has revealed a glycogen storage disease type IX from mutation of PHKB gene. This mutation is associated with a good prognosis and it may cause hepatic fibrosis only very rarely. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.

KW - Case report

KW - Glycogen storage disease type IX

KW - Hypertransaminasemia

KW - Molecular analysis

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Fegato grosso e grasso: Poche diagnosi a cui pensare

Abstract

ASJC Scopus subject areas

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