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一个阿什肯纳兹犹太家庭中的遗传性软骨钙质沉着症。

Hereditary chondrocalcinosis in an Ashkenazi Jewish family.

作者信息

Eshel G, Gulik A, Halperin N, Avrahami E, Schumacher H R, McCarty D J, Caspi D

机构信息

Department of Pediatrics, Assaf Harofe Medical Center, Zerifin, Israel.

出版信息

Ann Rheum Dis. 1990 Jul;49(7):528-30. doi: 10.1136/ard.49.7.528.

Abstract

A hereditary chondrocalcinosis is described for the first time in an Ashkenazi Jewish kindred. Of 34 family members in five generations, seven had medical history suggesting the disease. Five of 25 members of generations III-V had direct evidence for their disease. Characteristically, symptoms started at a fairly early age (third decade) while radiological evidence of chondrocalcinosis was delayed to the fourth decade. Joints commonly affected were knees, wrists, and elbows. The course was chronic with acute, exercise induced exacerbations.

摘要

首次在一个阿什肯纳兹犹太家族中描述了一种遗传性软骨钙质沉着症。在五代的34名家族成员中,有7人有提示该病的病史。第三代至第五代的25名成员中有5人有该病的直接证据。其特点是症状在相当早的年龄(第三个十年)开始出现,而软骨钙质沉着症的放射学证据则延迟到第四个十年。常见受累关节为膝、腕和肘。病程呈慢性,有急性、运动诱发的加重情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f3f/1004143/50fe0e6e646c/annrheumd00441-0043-a.jpg

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