title: [Early onset diabetes mellitus].
abstract: Neonatal diabetes mellitus is a rare condition (1/90,000 to 1/260,000 live births) defined as mild-to-severe hyperglycemia within the first year of life. Permanent neonatal diabetes mellitus requires lifelong therapy, whereas transient form resolves early in life but may relapse later on. Two main physiopathological mechanisms may explain this disease: β cell functional impairment or absence (pancreas agenesis or β cells destruction). The main genetic causes of β cells impairment are 6q24 abnormalities and mutations in ABCC8 or KCNJ11 potassium channel (KATP channel) genes. Compared to the KATP subtype, the 6q24 subtype had specific features: developmental defects involving the heart, kidneys, or urinary tract, intrauterine growth restriction, and early diagnosis. Remission of neonatal diabetes mellitus occurred in 51% of probands at a median age of 17 weeks. Recurrence was common at pubertal age, with no difference between the 6q24 and KATP-channel groups (82% vs 86%, p=0.36, respectively). Patients with mutations in ABCC8 or KCNJ11 genes had developmental delay with or without epilepsy but also developmental coordination disorder (particularly visual-spatial dyspraxia) or attention deficits in all of those who underwent in-depth neuropsychomotor investigations.
authors.affiliation: Endocrinologie, gynécologie et diabétologie pédiatrique, hôpital Necker-Enfants malades (AP-HP), affiliation IMAGINE, 149 rue de Sèvres, 75015 Paris, France; Université Paris-Descartes, Sorbonne-Paris-Cité, 12 rue de l'École-de-Médecine, 75270 Paris Cedex 06, France; Inserm U845, faculté de médecine Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France. Electronic address: kanetee.busiah@nck.aphp.fr.
authors.forename: K
authors.initials: K
authors.lastname: Busiah
authors.affiliation: Université Paris-Descartes, Sorbonne-Paris-Cité, 12 rue de l'École-de-Médecine, 75270 Paris Cedex 06, France; Inserm UMR-S0669, université Paris-Sud, 15 rue Georges-Clemenceau, 91400 Orsay, France.
authors.forename: L
authors.initials: L
authors.lastname: Vaivre-Douret
authors.affiliation: Endocrinologie, gynécologie et diabétologie pédiatrique, hôpital Necker-Enfants malades (AP-HP), affiliation IMAGINE, 149 rue de Sèvres, 75015 Paris, France; Service de psychiatrie de l'enfant et de l'adolescent, hôpital Necker-Enfants malades (AP-HP), 149 rue de Sèvres, 75015 Paris, France; Service de pédiatrie, hôpitaux universitaires Paris-Centre-Port-Royal-Cochin (AP-HP), 27 rue du faubourg Saint-Jacques, 75014 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Yachi
authors.affiliation: Université Paris-Diderot, Sorbonne-Paris-Cité, 5 rue Thomas-Mann, 75013 Paris, France; Service de génétique, UF de génétique moléculaire, hôpital Robert-Debré (AP-HP), 48 boulevard Sérurier, 75019 Paris, France; Inserm UMR-S940, institut universitaire d'hématologie, hôpital Saint-Louis, 1 avenue Claude-Vellefaux, 75010 Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Cavé
authors.affiliation: Endocrinologie, gynécologie et diabétologie pédiatrique, hôpital Necker-Enfants malades (AP-HP), affiliation IMAGINE, 149 rue de Sèvres, 75015 Paris, France; Université Paris-Descartes, Sorbonne-Paris-Cité, 12 rue de l'École-de-Médecine, 75270 Paris Cedex 06, France; Inserm U845, faculté de médecine Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Polak
mesh_terms: D017668:Age of Onset; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn