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[A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].

[A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].

期刊: Zhonghua xin xue guan bing za zhi 日期: 2026-07-24 PMID: 42452926 DOI: 10.3760/cma.j.cn112148-20251111-00790 浏览: 32
作者: Li SN, Yang N, Tong X, Nan J, Wang G, Xu L, Chen ZX
SN, L., N, Y., X, T., J, N., G, W., L, X., & ZX, C. (2026). [A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].. Zhonghua xin xue guan bing za zhi. https://doi.org/10.3760/cma.j.cn112148-20251111-00790
SN L, N Y, X T, J N, G W, L X, et al. [A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].. Zhonghua xin xue guan bing za zhi. 2026; doi: 10.3760/cma.j.cn112148-20251111-00790
SN L, N Y, X T, et al. [A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].[J]. Zhonghua xin xue guan bing za zhi. 2026. DOI: 10.3760/cma.j.cn112148-20251111-00790.
@article{sn2026,
  author = {Li SN and Yang N and Tong X and Nan J and Wang G and Xu L and Chen ZX},
  title = {[A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].},
  journal = {Zhonghua xin xue guan bing za zhi},
  year = {2026},
  doi = {10.3760/cma.j.cn112148-20251111-00790},
  note = {PMID: 42452926},
}
TY  - JOUR
AU  - Li SN
AU  - Yang N
AU  - Tong X
AU  - Nan J
AU  - Wang G
AU  - Xu L
AU  - Chen ZX
TI  - [A case of hereditary hemochromatosis with multi-organ involvement presenting primarily as heart failure].
T2  - Zhonghua xin xue guan bing za zhi
PY  - 2026
DO  - 10.3760/cma.j.cn112148-20251111-00790
AN  - PMID:42452926
ER  - 

摘要

遗传性血色病属于常染色体遗传性铁代谢异常疾病,发病核心机制为铁调素合成不足或功能缺陷,导致肠道铁吸收调控紊乱、机体铁负荷过载并在多器官过度沉积,引发相应脏器功能损害。该病起病隐匿,临床表现缺乏特异性,易被漏诊、误诊,多数患者常在进展至终末期器官并发症时才得以明确诊断。该文报道1例以心力衰竭为主要表现的2型遗传性血色病青年患者,旨在增强临床医师对该病的认知与识别能力,促进疾病早期诊断与系统性管理。.

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