马凡氏综合征合并1型糖尿病和自身免疫性甲状腺炎1例27岁女性患者-病例报告

Berecki Bernadett, Iakab Noemi, Szabó Monica Iudita Maria
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摘要

摘要简介:马凡氏综合征(MFS)是一种由遗传决定的结缔组织疾病,由位于1号染色体上的FBN1基因突变引起,该基因调节糖蛋白原纤维蛋白1的产生。这导致不同的结缔组织疾病,特别是心血管疾病。目的:我们报告的目的是描述1型自身免疫性糖尿病和甲状腺炎共存于先前未确诊的MFS患者的病例。病例介绍:27岁女性患者,以6个月多尿多渴综合征就诊急诊科,体重减轻-10kg。糖尿病发病表现为严重的酮症酸中毒(血糖=674 mg/dl, pH= 7036,尿酮体=159 mg/dl)。病理实验室结果:c肽=212 ng/ml,抗谷氨酸脱羧酶(GAD) =5,1UI/ml, ATPO=558 UI/ml。可识别出MFS的临床特征:头侧脸伴眼内陷,身高184 cm,体重40 kg,体重减轻前BMI分别为11、81 kg/m2 (50 kg、14、77 kg/m2);四肢长,蛛网膜畸形,脊柱后凸,二尖瓣收缩期杂音。影像学检查显示房间隔缺损伴6mm双向分流,升主动脉、主干及主动脉峡部扩张,二尖瓣脱垂,三尖瓣功能不全,右心腔扩张,房间隔动脉瘤及肺动脉高压。心电图显示右支传导阻滞。眼科检查证实晶状体半脱位。讨论:糖尿病和甲状腺炎的病因已被证明是自身免疫性的。随着基础胰岛素治疗的引入,血糖得到了控制,并开始对心脏受损伤进行β受体阻滞剂治疗。这个特殊的病例是独特的,因为它与两种严重的终身疾病有关。MFS应根据形态学特征进行考虑,由于其严重的长期并发症,需要进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Marfan syndrome associated with type 1 diabetes and autoimmune thyroiditis in a 27 years old female patient - Case presentation
Abstract Introduction: Marfan syndrome (MFS) is a genetically determined connective tissue disorder caused by a mutation in the FBN1 gene, located on chromosome 1, which regulates the production of the glycoprotein Fibrillin 1. This results in different connective tissue diseases, especially cardiovascular involvement. Objective: The aim of our presentation is the description of a case in which type 1 autoimmune diabetes and thyreoiditis coexists in a previously undiagnosed patient with MFS. Case presentation: A 27-years-old female patient presented to the emergency department with a 6 months long polyuria-polydipsia syndrome, with weight loss of -10kg. The onset of diabetes manifested with severe ketoacidosis (blood glucose=674 mg/dl, pH=7,036, urinary ketone bodies=159 mg/dl). Pathological laboratory findings include C-peptide=212 ng/ml, anti glutamic acid decarboxylase (GAD) = 5,1UI/ml, ATPO=558 UI/ml. Clinical features of MFS could be recognised, like dolicocephalic face with enophthalmus, height: 184 cm, weight: 40 kg with a BMI of 11,81 kg/m2 respectively 50 kg and 14,77 kg/m2 before weight loss; long limbs, arachnodactyly, kyphoscoliosis, mitral systolic murmur. Imaging procedures showed atrial septal defect with a 6 mm bidirectional shunt, the ascending aorta, the trunk and the aortic isthmus were dilated, mitral valve prolapse, tricuspid valve insufficiency and dilatation of the right heart cavities, interatrial septal aneurysm and pulmonary hypertension. The ECG showed a right branch block. Ophthalmologic examination confirms the lens subluxation. Discussion: The etiology of diabetes and thyroiditis has proven to be autoimmune. With the introduction of base-bolus insulin therapy glycemic control was obtained and beta-blocker treatment was started for the cardiac involvement. Summary: This particular case is unique due to the fact that associates two serious lifelong diseases. MFS should be considered on the basis of morphological characteristics, which requires further investigation due to its serious long term complications.
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