HLA‐DRB1 and DQB1 genotypes in patients with insulin‐dependent neonatal diabetes mellitus. A study of 13 cases

Wiley - Tập 56 Số 3 - Trang 217-222 - 2000
Eve Marquis1, I. Le Monnier de Gouville2, Claire Bouvattier3, Jacques Beltrand4, Claudine Junien1, Dominique Charron2, J Hors2, C. Diatloff‐Zito1
1Inserm U383, Université de Paris V, Hôpital Necker-Enfants Malades, Paris, France.
2Département d’Immunologie and Inserm U396, Hôpital Saint Louis, Paris, France
3Hôpital Saint Vincent de Paul, Paris, FRANCE
4Département de Pédiatrie et Métabolisme, Hôpital Necker‐Enfants Malades, Paris, France

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Abstract:Insulin‐dependent neonatal diabetes mellitus (NDM) is a rare form of diabetes with a heterogeneous genetic background. The HLA‐DRB1 and DQB1 genotypes were determined for 13 patients with NDM, from 9 unrelated families. Four patients had permanent NDM (PNDM) and 9 patients had transient NDM (TNDM). No excess of HLA susceptibility markers for type 1 diabetes (IDDM) was observed in this series of patients, whatever the forms of diabetes PNDM or TNDM. Paternal isodisomy of chromosome 6 was observed in two TNDM cases. These observations are consistent with the current hypothesis that there is a recessive susceptibility gene, at least in the transient form of the disease, unlinked to the MHC locus on chromosome 6. Although established in a short series, our results do not support an additive role of IDDM1 in the progression of the disease.

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