Agnes hartemann

Type 1 or not type 1 ? Agnès Hartemann Diabétologie Christine Bellanné-Chantelot Département de Génétique La Pitié, Paris

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Les diabètes néo-nataux ,[object Object],[object Object],[object Object],[object Object],[object Object]

Phénotypes possibles de ces mutations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Babenko AP, NEJM 2006: 456 Vaxillaire M, Diabetes 2004: 2719 Pearson AR, NEJM 2006:467 Flanagan SE, Diabetes 2007:1930 Hartemann A, Diabetes Metab, 2009: 233

Conséquences thérapeutiques ,[object Object]

Comment identifier ces patients ? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],Un diagnostic moléculaire complexe: Pourquoi ?

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I II III ,[object Object],[object Object]

I II III ,[object Object],Dépistage familial HbA1C 6.7% 45 ans, ADO Analyse HNF1A/HNF4A Analyse INS ,[object Object],DT2 DT2

I II III Analyse ABCC8 H125Q /R826W H125Q /R826W R826W /N H125Q /N DT2 DT2 ,[object Object],[object Object]

I II III H125Q /R826W H125Q/R826W R826W/WT H125Q /WT ,[object Object],[object Object],Hypoglycémie DT1 DT2 DT2 ,[object Object],[object Object],[object Object]

Agnes hartemann

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