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요약정보
SLC26A4 变异引起的迟发性 Pendred 综合征 伴 2 型糖尿病 1 例.
Resource Type
Article
Authors
李茹
;
魏彦红
;
武宝峰
;
杨喜枫
;
李梦男
;
刘云峰
Source
Chinese Journal of Diabetes Mellitus
. Apr2024, Vol. 16 Issue 4, p460-463. 4p.
Subject
Language
Chinese
ISSN
1674-5809
Online Access
Scopus
Find it @ DONGA
초록
Pendred 综合征是由 SLC26A4 致病变异引起的常染色体隐性遗传病, 多在新生儿期或儿 童期起病, 遗传性耳聋是其特征之一。当Pendred综合征合并糖尿病时, 临床表现与线粒体糖尿病相 似。该文报道了1例66岁的女性患者, 表现为糖尿病、耳聋和甲状腺肿, 最初被认为是线粒体糖尿病。 基因检测未发现线粒体基因组的致病变异, 而 SLC26A4 基因存在 2 个复合杂合变异, 最终被诊断为 Pendred 综合征合并2型糖尿病。该患者迟发性起病在临床上较为罕见。因此, 对于糖尿病伴遗传性 耳聋的患者, 临床医师不仅要关注线粒体糖尿病, 还应考虑合并Pendred 综合征的可能性, 基因检测有 助于及早做出明确的诊断。 [ABSTRACT FROM AUTHOR]
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