伴冠心病的成人 DiGeorge 综合征1例并文献复习. (Chinese)
In: Journal of Modern Medicine & Health, Jg. 40 (2024-02-28), Heft 4, S. 715-718
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Zugriff:
内蒙古自治区人民医院收治1例伴冠心病的成人 DiGeorge 综合征患者, 因胸闷就诊时意外发 现低钙血症, 期间间断手足搐搦, 但甲状旁腺激素始终处于正常范围, 一直未确诊, 经低深度全基因组测序及相 关检查后最终确诊为 DiGeorge 综合征。应用维生素 D及钙剂后血钙水平升高, 手足搐搦明显缓解。提示低钙 血症、甲状旁腺激素在正常范围的情况下首先将其考虑为甲状旁腺功能减退症, 避免误诊及漏诊;低钙血症伴 冠心病、特殊面容等表现的患者需进一步筛查遗传相关原因。 [ABSTRACT FROM AUTHOR]
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Titel: |
伴冠心病的成人 DiGeorge 综合征1例并文献复习. (Chinese)
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Autor/in / Beteiligte Person: | 包旭 ; 宋爽 ; 唐芳 ; 卢少琼 ; 李园园 ; 吴乌德勒胡 |
Zeitschrift: | Journal of Modern Medicine & Health, Jg. 40 (2024-02-28), Heft 4, S. 715-718 |
Veröffentlichung: | 2024 |
Medientyp: | academicJournal |
ISSN: | 1009-5519 (print) |
DOI: | 10.3969/j.issn.1009-5519.2024.04.037 |
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