Clerc Alice, Coupaye Muriel, Mosbah Héléna, Pinto Graziella, Laurier Virginie, Mourre Fabien, Merrien Christine, Diene Gwenaëlle, Poitou Christine, Tauber Maithé
Centre de Référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et Autres Formes Rares d'Obésité avec Troubles du Comportement Alimentaire), Service d'Endocrinologie, Obésités, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, 31059 Toulouse, France.
Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et Autres Formes Rares d'Obésité avec Troubles du Comportement Alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
J Clin Med. 2021 Nov 15;10(22):5310. doi: 10.3390/jcm10225310.
Type 2 diabetes mellitus (T2DM) affects 20% of patients with Prader-Willi syndrome (PWS), with many cases diagnosed during the transition period. Our aim was to describe the natural history of T2DM in patients with PWS before the age of 25 years and to develop screening and preventive strategies. Thirty-nine patients followed in the French PWS Reference Center were included (median age 25.6 years [23.7; 31.7]). Twenty-one had been treated with growth hormone (GH), fifteen had not, and three had an unknown status. The median age at T2DM diagnosis was 16.8 years (11-24) and the median BMI was 39 kg/m [34.6; 45], with 34/35 patients living with obesity. The patients displayed frequent psychiatric (48.3% hospitalization,) and metabolic (56.4% hypertriglyceridemia,) comorbidities and a parental history of T2DM (35.7%) or overweight (53.6%) compared to the PWS general population. There was no difference in BMI and metabolic complications between the GH-treated and non-GH-treated groups at T2DM diagnosis. Patients with PWS who develop early T2DM have severe obesity, a high frequency of psychiatric and metabolic disorders, and a family history of T2DM and overweight. These results underline the need for early identification of patients at risk, prevention of obesity, and repeated blood glucose monitoring during the transition period.
2型糖尿病（T2DM）影响20%的普拉德-威利综合征（PWS）患者，许多病例在过渡期被诊断出来。我们的目的是描述25岁之前PWS患者T2DM的自然病史，并制定筛查和预防策略。纳入了在法国PWS参考中心随访的39例患者（中位年龄25.6岁[23.7；31.7]）。21例曾接受生长激素（GH）治疗，15例未接受治疗，3例情况不明。T2DM诊断时的中位年龄为16.8岁（11 - 24岁），中位体重指数（BMI）为39kg/m²[34.6；45]，35例患者中有34例患有肥胖症。与PWS普通人群相比，这些患者频繁出现精神疾病（48.3%曾住院）和代谢疾病（56.4%患有高甘油三酯血症），且有T2DM（35.7%）或超重（53.6%）的家族史。在T2DM诊断时，接受GH治疗组和未接受GH治疗组之间的BMI和代谢并发症无差异。早期发生T2DM的PWS患者有严重肥胖、精神和代谢紊乱的高发生率，以及T2DM和超重的家族史。这些结果强调了在过渡期早期识别高危患者、预防肥胖以及反复进行血糖监测的必要性。
