Diabetes mellitus (DM) and arginine vasopressin deficiency (AVP‐D) are characterized by polyuria. Marfan syndrome is an autosomal dominant disorder caused by pathogenetic variants in FBN1. Here, we report a patient with type 2 diabetes mellitus, AVP‐D, and Marfan syndrome. Although the coexistence of type 2 diabetes mellitus and AVP‐D is rare, for those patients with type 2 diabetes mellitus, the existence of AVP‐D should be considered when polyuria is not in accordance with the blood glucose levels, especially for those with a low urine specific gravity. Specific symptoms or signs help to identify Marfan syndrome early, and genetic testing of the FBN1 pathogenetic variant helps to make a definitive diagnosis.

中文翻译：

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2 型糖尿病、精氨酸加压素缺乏症和马凡综合征并存：一例报告

糖尿病（DM）和精氨酸加压素缺乏症（AVP-D）的特点是多尿。马凡综合征是一种由致病变异引起的常染色体显性遗传疾病FBN1。在此，我们报告一名患有 2 型糖尿病、AVP-D 和马凡综合征的患者。虽然2型糖尿病与AVP-D并存的情况很少见，但对于2型糖尿病患者，当多尿与血糖水平不相符时，尤其是合并有AVP-D的患者，应考虑AVP-D的存在。尿比重低。特定症状或体征有助于及早识别马凡氏综合症，并对马凡氏综合症进行基因检测FBN1致病变异有助于做出明确的诊断。