Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Incremento delle transaminasi in un bambino con ipofibrinogenemia congenita e ipobetalipoproteinemia famigliare

Abnormal transaminases in a child with congenital hypofibrinogenemia and familial hypobetalipoproteinemia

Martina Fornaro1,2, Enrico Valletta1
1U.O. Pediatria, Ospedale G.B. Morgagni - L. Pierantoni, AUSL di Forl 2Dottorato in Imaging Multimodale in Biomedicina, Universit di Verona, Verona

Gennaio 2012

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Classificazione MeSH
Afibrinogenemia (4) Apolipoproteins B Fibrinogen (5) Hypobetalipoproteinemias Mutation (62)

Bibliografia


  1. Maggiore G. Approccio diagnostico al bambino con aminotransferasi elevate. Area Pediatrica 2002;3:5-23.
  2. Giannini EG, Testa R, Savarino V. Liver enzyme alteration: a guide for clinicians. CMAJ 2005;172:367-79.
  3. Maggiore G. L'esplorazione bioumorale del fegato: il bilancio epatico. Medico e Bambino 2009;28:649-53.
  4. Maggiore G. Approccio clinico al bambino con enzimi epatici elevati, quasi vent'anni dopo Medico e Bambino 2010;29:21-32.
  5. Zancan L, Bettiol T, Rini A, et al. Chronic idiopathic hypertransaminasemia. Minerva Pediatr 1996; 48:209-16.
  6. Peyvandi F, Cattaneo M, Inbal A, De Moerloose P, Spreafico M. Rare Bleeding disorders. Haemophilia 2008;14 (suppl 3):202-210.
  7. Brennan SO, Maghzal G, Shneider BL, et al. Novel fibrinogen 375 ArgTrp mutation (fibrinogen Aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002;36:652-8.
  8. Vu D, Neerman-Arbez. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins. J Thromb Haemost 2007;5(suppl 1):125-131.
  9. Francalanci P, Santorelli FM, Talini I, et al. Severe liver disease in early childhood due to fibrinogen storage and de novo gamma 375Arg →Trp gene mutation. J Pediatr 2006;148:396-398.
  10. Sogo T, Nagasaka H, Komatsu H, et al. Fibrinogen storage disease caused by Aguadilla mutation presenting with hypobeta-lipoproteinemia and considerable liver disease. J Pediatr Gastroenterol Nutr 2009;49:133-36.
  11. Mannuccio PM, Duga S, Peyvandi F. recessively inherited coagulation disorders. Blood 2004;104:1243-1252.
  12. Bolton-Maggs PHB, Perry DJ, Chalmers EA, et al. The rare coagulation disorders review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organization. Haemophilia 2004;10:593-628.
  13. Rubbia-Brandt L, Neerman-Arbez M, Rougemont A-L, et al. Fibrinogen gamma375 Arg  Trp mutation (fibrinogen Aguadilla) causes hereditary Hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis. Am J Surg Pathol 2006;30:906-11.
  14. Waterham HR. Inherited disorders of cholesterol biosynthesis. Clin Genet 2002;61:393-403.
  15. Burnett JR, Hooper A. Commom and rare gene variants affecting plasma LDL cholesterol. Clin Biochem Rev 2008;29:11-25.
  16. Hooper AJ, Robertson K, Barrett PHR, et al. Postprandial lipoprotein metabolism in familial hypobelipoproteinemia. J Clin Endocrinol Metab 2007;92:1474-1478.
  17. Pautler D, Easley D, Pohl JF. Abetalipoproteinemia. J Pediatr Gastroenterol Nutr 2008;46:355.
  18. Zamel R, Khan R, pollex R, Hegele R. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis 2008;3:19-26.
  19. Redman CM, Xia H. Fibrinogen biosynthesis. Assembly, intracellular degradation, and association with lipid synthesis and secretion. Ann N Y Acad Sci 2001;936:480-95.
  20. Lane DM, McConathy WJ, Comp PC, Gilcher RO. Afibrinogenemia and hypobetalipoproteinemia in a kindred. Arch Intern Med 1991;151:800-804.
  21. Kruse KB, Dear A, Kaltenbrun ER, et al. Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy. An explanation for liver disease. Am J Pathol 2006;168:1299-308.