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常染色体显性多囊肾病与心包积液

Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion.

作者信息

Fernandez Guillermo Alberto Perez, Ismail Montaser Y

机构信息

Department of Clinical Cardiology, Hamad Medical Corporation, The Cuban Hospital, Dukhan, Qatar.

Department of Clinical Cardiology, Hamad Medical Corporation, The Heart Hospital, Doha, Qatar.

出版信息

Oman Med J. 2018 Sep;33(5):429-432. doi: 10.5001/omj.2018.78.

Abstract

The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400-1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of a patient with ADPKD is complex, and it is not entirely defined. Several theories have been proposed. The most accepted, so far, is linked to mutations in the gene which can entail an abnormal production of matrix components, matrix-degrading enzymes, and inhibitors of metalloproteinases, and defects in connective tissue which would lead to an abnormal distensibility of the connective tissue. We report the case of a 35-year-old female Moroccan patient with the diagnosis of ADPKD associated with arterial hypertension who came into the Emergency Department with lower abdominal pain lasting for five days being diagnosed as salpingitis. Abdominal computed tomography scan with contrast showed both kidneys with several cystic images with a thin wall. A transthoracic echocardiogram revealed the presence of moderate PE more in the anterior aspect. A greater set of standard tests to rule out collagen vascular disease, rheumatoid diseases, autoimmune disorders, and malignancies was ordered. These tests yielded no abnormality. The association of ADPKD with PE is rare. The awareness of this connection by the emergency physicians is key to prevent misplaced concern.

摘要

常染色体显性遗传性多囊肾病(ADPKD)在400 - 1000例活产婴儿中占1例,是一种具有囊性和非囊性表现以及肾外受累的遗传性疾病。ADPKD患者出现的心包积液(PE)情况较为复杂,目前尚未完全明确。已经提出了几种理论。迄今为止,最被认可的理论与该基因的突变有关,这种突变可能导致基质成分、基质降解酶和金属蛋白酶抑制剂的异常产生,以及结缔组织缺陷,进而导致结缔组织的异常扩张性。我们报告了一例35岁的摩洛哥女性患者,诊断为ADPKD合并动脉高血压,因持续五天的下腹部疼痛前来急诊科就诊,被诊断为输卵管炎。腹部增强计算机断层扫描显示双肾有多个薄壁囊性影像。经胸超声心动图显示在前侧有中度心包积液。还进行了一系列更全面的标准检查以排除胶原血管病、类风湿疾病、自身免疫性疾病和恶性肿瘤。这些检查未发现异常。ADPKD与PE的关联较为罕见。急诊医生了解这种关联对于避免不必要的担忧至关重要。

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