Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The growth of 22 boys with hemophilia, infection with human immunodeficiency virus (HIV), and lymphadenopathy, but not overt acquired immunodeficiency syndrome (AIDS) was evaluated. Three patients were found to have significant growth failure for 3-4 years with the onset after HIV infection. Extensive endocrine evaluation revealed that two of the three had neurodysregulation of growth hormone release with hyposomatomedinemia. None had classical growth hormone deficiency, thyroid deficiency, or evidence of malnutrition/malabsorption or other systemic illness. It appears that growth failure is not rare in boys with hemophilia and HIV infection and that this might be due to a direct effect on the physiologic secretion of growth hormone.
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PMID:Growth failure in boys with hemophilia and HIV infection. 278 55

Combined deficiency of vitamin K-dependent clotting factors II, VII, IX and X (and proteins C, S, and Z) is usually an acquired clinical problem, often resulting from liver disease, malabsorption, or warfarin overdose. A rare inherited form of defective gamma-carboxylation resulting in early onset of bleeding was first described by McMillan and Roberts in 1966 and subsequently has been termed 'vitamin K-dependent clotting factor deficiency' (VKCFD). Biochemical and molecular studies identify two variants of this autosomal recessive disorder: VKCFD1, which is associated with point mutations in the gamma-glutamylcarboxylase gene (GGCX), and VKCFD2, which results from point mutations in the vitamin K epoxide reductase gene (VKOR). Bleeding ranges in severity from mild to severe. Therapy includes high oral doses of vitamin K for prophylaxis, usually resulting in partial correction of factor deficiency, and episodic use of plasma infusions or prothrombin complex concentrate. Recent molecular studies have the potential to further our understanding of vitamin K metabolism, gamma-carboxylation, and the functional role this post-translational modification has for other proteins. The results may also provide potential targets for molecular therapeutics and pharmacogenetics.
Haemophilia 2008 Nov
PMID:Familial deficiency of vitamin K-dependent clotting factors. 1914 Nov 61

Authors report a case of patient suffering from haemophilia A and hepatitis C virus infection acquired probably after blood transfusions and substitution factors application. He was treated with pegylated interferon alpha and ribavirin, with the development of malabsorption symptoms during the therapy. Celiac disease was established by histological, histochemical and serological examinations. oth, interferon alpha and ribavirin treatment as well as virus of hepatitis C may trigger coeliac disease in genetically predisposed individuals. The immunological mechanism of celiac disease include balance disruption between Th1 and Th2 immunological response with Th1 predominance. Only few similar cases have been published in the professional literature to date. Development of celiac disease during interferon alpha therapy with haemophilia A was not published until now (Fig. 3, Ref. 13).
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PMID:Celiac disease manifested during the treatment of chronic hepatitis C by pegylated alpha interferon and ribavirin. 2250 61