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Early‐onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene
Author(s) -
Rachmiel Marianna,
RubioCabezas Oscar,
Ellard Sian,
Hattersley Andrew T,
Perlman Kusiel
Publication year - 2012
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/j.1399-5448.2011.00809.x
Subject(s) - medicine , lipoatrophy , insulin , diabetes mellitus , mutation , autoantibody , endocrinology , gene mutation , gene , immunology , genetics , antibody , biology , human immunodeficiency virus (hiv) , viral load , antiretroviral therapy
Rachmiel M, Rubio‐Cabezas O, Ellard S, Hattersley AT, Perlman K. Early‐onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. We describe a case of neonatal diabetes due to a homozygous mutation (c.3 G>T) at the INS gene, leading to lack of insulin expression and severe hyperglycemia from day one of life requiring permanent insulin replacement therapy. The genetic loss of endogenous insulin production likely led to lack of immune tolerance to insulin, with resultant autoantibody production against exogenous insulin and progressive immune‐mediated lipoatrophy at injection sites.