ESPE Abstracts (2016) 86 RFC9.6

ESPE2016 Rapid Free Communications Pathophysiology of Disorders of Insulin Secretion (8 abstracts)

Emerging Pitfalls of Etiological Diagnosis of Diabetes in Children and Adolescents? Analysis of a French Cohort of 310 Recent-Onset Cases

Elise Bismuth a , Helene Plat b , Didier Chevenne b , Christine Bellane Chantelot c , Jean-Claude Carel b & Nadia Tubiana-Rufi b

aCHU de La Réunion, Saint Pierre, Reunion; bCHU Robert Debré, Paris, France; cCHU Pitié Salpétrière, Paris, France

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.

Objective and hypotheses: To classify diabetes etiologies in youth with diabetes using a prospective and retrospective systematic approach to diabetes diagnosis.

Method: Data on all new cases of diabetes 0–19 years old admitted in our unit (Paris, France) from January 1st 2010 to December 31st 2012 were prospectively collected. Diabetes etiologies were classified according family history, clinical (symptoms, age, gender, BMI), biological (ketones, pH, HCO3-, HbA1c), immunological (GAD, IAA, IA2, ZNT8), and HLA haplotypes findings at diagnosis, and retrospectively reviewed according to follow up data (insulin requirement, associated symptoms, genetic testing).

Results: Among the 310 youth diagnosed with diabetes over the 3-year study period, 216 (70%) had autoimmune T1D. The most prevalent final diagnoses in the non autoimmune group were type 2 diabetes (n=23, 29.7%), hematologic disease- or post transplantation drug- induced diabetes (16.2%), MODY (13.5%), and transient hyperglycemia (10.8%). Less frequently diagnoses were type 1B diabetes, cystic fibrosis related diabetes, and specific rare cases of diabetes. Patients without autoimmunity were significantly older (10.1 vs 7.5 yrs old), had higher SDS BMI, and lower HbA1c (8.9 vs 11.8%) at diagnosis P<0.01.

Conclusion: A systematic approach to diabetes etiology in a large hospital-based cohort of youth with newly diagnosed diabetes shows a large diversity of diagnoses with T1D accounting for “only” 70%. Further evaluation of auto-antibody-negative patients and use of the latest genetic testing methods are needed to avoid underestimating the other forms of diabetes and provide adequate care and treatment.

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