Baş Firdevs, Kabataş-Eryilmaz Sema, Günöz Hülya, Darendeliler Feyza, Küçükemre Banu, Bundak Rüveyde, Saka Nurçin
Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Turk J Pediatr. 2009 Mar-Apr;51(2):183-6.
It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of polydipsia, polyuria and weight loss and was diagnosed as diabetic ketoacidosis due to autoimmune type 1 DM. Insulin therapy was started. Elevated thyroid antibodies associated with diffuse goiter and hypothyroidism led to the diagnosis of autoimmune thyroid disease (ATD), and elevated antiendomysial antibodies and abnormal intestinal biopsy findings led to the diagnosis of celiac disease (CD). L-thyroxine therapy and gluten-free diet were initiated accordingly. At the third-year of follow-up, acute attacks of fever, abdominal pain and chest pain developed. Laboratory investigations, which were normal between the attacks, revealed elevated erythrocyte sedimentation rate, fibrinogen, white blood cell count and pleural effusion on chest X-ray during the attacks. Molecular analysis for FMF revealed compound heterozygous M694I and V726A. The patient responded well to colchicine therapy started at a dose of 1.5 mg/day. We present the second patient with type 1 DM associated with FMF who also had ATD and CD.
已知1型糖尿病（1型DM）可能与其他自身免疫性疾病相关。最近，医学文献报道了一名患有1型DM和家族性地中海热（FMF）的患者。一名10.5岁男孩因烦渴、多尿和体重减轻前来我院就诊，被诊断为自身免疫性1型DM导致的糖尿病酮症酸中毒。开始胰岛素治疗。与弥漫性甲状腺肿和甲状腺功能减退相关的甲状腺抗体升高导致自身免疫性甲状腺疾病（ATD）的诊断，抗肌内膜抗体升高和肠道活检异常结果导致乳糜泻（CD）的诊断。相应地开始左甲状腺素治疗和无麸质饮食。在随访的第三年，出现发热、腹痛和胸痛的急性发作。发作期间实验室检查正常，但发作时红细胞沉降率、纤维蛋白原、白细胞计数升高，胸部X线显示胸腔积液。FMF的分子分析显示复合杂合子M694I和V726A。患者对开始剂量为1.5mg/天的秋水仙碱治疗反应良好。我们报告了第二例患有1型DM并伴有FMF、ATD和CD的患者。
