[HTML][HTML] Mecasermin in insulin receptor-related severe insulin resistance syndromes: case report and review of the literature

M Plamper, B Gohlke, F Schreiner… - International journal of …, 2018 - mdpi.com
M Plamper, B Gohlke, F Schreiner, J Woelfle
International journal of molecular sciences, 2018mdpi.com
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin
resistance syndromes (SIR), including insulin resistance type A, Rabson–Mendenhall
syndrome and Donohue syndrome (DS), with DS representing the most severe form of
insulin resistance. Treatment of these cases is challenging, with the majority of DS patients
dying within the first two years of life. rhIGF-I (mecasermin) has been reported to improve
metabolic control and increase lifespan in DS patients. A case report and literature review …
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson–Mendenhall syndrome and Donohue syndrome (DS), with DS representing the most severe form of insulin resistance. Treatment of these cases is challenging, with the majority of DS patients dying within the first two years of life. rhIGF-I (mecasermin) has been reported to improve metabolic control and increase lifespan in DS patients. A case report and literature review were completed. We present a case involving a male patient with DS, harbouring a homozygous mutation in the INSR gene (c.591delC). Initial rhIGF-I application via BID (twice daily) injection was unsatisfactory, but continuous subcutaneous rhIGF-I infusion via an insulin pump improved weight development and diabetes control (HbA1c decreased from 10 to 7.6%). However, our patient died at 22 months of age during the course of a respiratory infection in in Libya. Currently available data in the literature comprising more than 30 treated patients worldwide seem to support a trial of rhIGF-I in SIR. rhIGF-I represents a treatment option for challenging SIR cases, but careful consideration of the therapeutic benefits and the burden of the disease is warranted. Continuous application via pump might be advantageous compared to single injections.
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