Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162275 (ketonuria)
 553 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a 36-year-old patient suffering from chronic hepatitis C. Because of elevated liver enzymes and histology showing chronic inflammation and periportal fibrosis, interferon-alpha (IFN) therapy was started with a dosage of 5 Mio units three times a week. Four months later the patient hat to be hospitalized due to the typical clinical features of a recent onset type 1 diabetes (BG > 300 mg/dl, HbA1c 9.6%, ketonuria). In serum samples prior to and following interferon therapy, we analyzed titers of diabetes-related autoantibodies responding to GAD65 (glutamic acid decarboxylase), IA2c (tyrosine phosphatase) and ICA (islet cell autoantibodies). While ICA were negative before starting therapy, IA2c-antibodies were highly elevated. In contrast. GAD65-antibodies were elevated only slightly over the cut-off of the assay before therapy (controlled by a second different RIA assay) and increased 100 fold during IFN-alpha treatment. Additionally thyroid antibodies appeared. After the end of the IFN therapy, GAD65- and IA2c antibodies remained on high levels and also ICA could now be found. The patient was positive for HLA-DR4. This case supports the hypothesis that IFN-alpha therapy may lead to an augmented autoimmune reaction against islet cell antigens resulting in the development of diabetes mellitus type 1, especially if there are other predisposing factors before IFN treatment. We further discuss the possible involvement of interferon-alpha in the pathogenesis of autoimmune diabetes with reference to recent studies.
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PMID:[Augmentation of the immune response to islet cell antigens with development of diabetes mellitus caused by interferon-alpha therapy in chronic hepatitis C]. 1023 96

Neonatal diabetes mellitus is a rare entity defined as hyperglycaemia occurring within the first 3 months of life that lasts for at least 2 weeks and requiring insulin therapy for unforeseeable duration. We report the case of a full-term female infant with permanent neonatal diabetes mellitus, stemming from consanguineous parents, born with severe intra-uterine growth retardation and birth weight of 1400 g. The patient presented on the 15th day of life a severe dehydration with a fever and ponderal loss of 14 %. The biology showed hyperglycaemia to 15 mmol/L, moderate metabolic acidosis, glucosuria and ketonuria. The diagnosis of neonatal diabetes mellitus was reserved, justifying its stake under insulin. Etiologic investigation showed a type HLA-DR4/DR8; anti-insulin antibodies were weakly positive, Langerhans islet cell and anti-GAD antibodies were negative. Abdominal magnetic resonance imaging scans, karyotype, molecular biology and chromatography of amino and organic acids did not show any abnormalities. During the first 2 years of age, the patient presented a big instability of glycaemia having required several hospitalizations. After 12 years of age, the patient is still under insulin with a satisfactory glycaemia balance and her growth is normal. Besides, she presents a microcephaly with a spastic walking. The search of neonatal diabetes mellitus must be systematic in front of any fetal hypotrophy allowing a premature coverage and a good prognosis.
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PMID:[Long-term follow-up of permanent neonatal diabetes in Tunisian infant]. 2055 66