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[两例遗传性多发性骨软骨瘤家族病例]

[Two familial cases of hereditary multiple exostoses].

作者信息

Géher P, Csauth K, Kaposi N P

机构信息

C Reumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet, Budapest.

出版信息

Orv Hetil. 2000 Feb 6;141(6):289-93.

Abstract

Hereditary multiple exostoses is an autosomal dominant disorder. Three different chromosomal loci have been implicated in this genetically heterogeneous disease. The authors describe a family in which 3 generations were affected, there were data about the disease of an already died grandmother, the father and his daughter were investigated by conventional X-ray and the disease was proved. The disease caused only minor complaints. The exostosis of the father's pelvis showed increased isotope uptake during bone scintigraphic examination, the same region exhibited malignant degeneration on MR examination. Regular check-up of the patients is necessary because of the possibility to a malignant transformation in 1-27% of the cases.

摘要

遗传性多发性骨软骨瘤是一种常染色体显性疾病。三个不同的染色体位点与这种基因异质性疾病有关。作者描述了一个三代人受影响的家族,有关于已去世祖母疾病的数据,父亲及其女儿通过传统X线检查进行了调查,疾病得到证实。该疾病仅引起轻微不适。父亲骨盆的骨软骨瘤在骨闪烁显像检查中显示同位素摄取增加,在磁共振检查中同一区域出现恶性退变。由于1%-27%的病例有可能发生恶性转化,因此对患者进行定期检查是必要的。

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