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  • Severe progressive obstructive cardiomyopathy and renal tubular dysfunction inDonohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation
    Hovnik, Tinka ...
    Donohue syndrome (leprechaunism; OMIM *246200) is a rare, recessively inherited disorder of extreme insulin resistance due to mutations in the insulin receptor gene (INSR) causing either defects in ... insulin binding or receptor autophosphorylation and tyrosine kinase activity. We report a patientwith pronounced clinical picture of leprechaunism who developed severe progressive hypertrophic obstructive cardiomyopathy (HOCM) and renal tubular dysfunction which improved on continuous subcutaneous infusion of recombinant human insulin-like growth factor-1 (rhIGF-I). INSR gene molecular analysis andinsulin receptor (IR) autophosphorylation on cultured fibroblasts were performed. A novel homozygous missense mutation p.Leu795Pro was found, locatedin the extracellular portion of the Ž subunit of the insulin receptor. The post-binding defect of the insulin receptor signaling in cultured fibroblasts demonstrated decreased insulin receptor autophosphorylation. Conclusion: Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation.
    Vir: European journal of pediatrics. - ISSN 0340-6199 (Vol. 172, iss. 8, avg. 2013, str. 1125-1129)
    Vrsta gradiva - članek, sestavni del ; neleposlovje za odrasle
    Leto - 2013
    Jezik - angleški
    COBISS.SI-ID - 688044

    Povezava(-e):

    http://link.springer.com/article/10.1007%2Fs00431-012-1901-7
    DOI

vir: European journal of pediatrics. - ISSN 0340-6199 (Vol. 172, iss. 8, avg. 2013, str. 1125-1129)
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