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MEN 2A家族——对634密码子突变阳性的无症状同胞进行预防性甲状腺切除术。

MEN 2A family--prophylactic thyroidectomy for asymptomatic siblings with positive 634 codon mutation.

作者信息

Agarwal Sudhi, Agarwal Amit, Chand Gyan, Gupta Sushil Kumar, Jain Manoj, Ramakant Pooja

机构信息

Department of Endocrine Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.

出版信息

J Assoc Physicians India. 2012 Feb;60:127-9.

Abstract

Multiple endocrine neoplasia 2a (MEN2a) syndrome is one of the rare genetic disorder where prophylactic thyroidectomy is recommended for RET mutation carriers due to increased risk for developing MTC during lifetime. We present a case report of prophylactic total thyroidectomy in a family based on genetic screening that proved to be MTC on histopathology. This is the first reported case in India where siblings underwent codon oriented prophylactic total thyroidectomy based solely on genetic analysis for MEN2a syndrome.

摘要

多发性内分泌腺瘤病2a型(MEN2a)综合征是一种罕见的遗传性疾病,由于RET突变携带者一生中患甲状腺髓样癌(MTC)的风险增加,因此建议对其进行预防性甲状腺切除术。我们报告了一例基于基因筛查进行预防性全甲状腺切除术的家族病例,术后病理证实为MTC。这是印度首例报道的病例,即兄弟姐妹仅基于MEN2a综合征的基因分析接受密码子定向预防性全甲状腺切除术。

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