一名罕见代谢性疾病患者因健康知识有限而导致致命后果

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-08-01 DOI:10.1016/j.ymgmr.2024.101121

Markey C. McNutt

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引用次数: 0

摘要

一名 6 个月大的黑人少女被诊断出患有精氨酸琥珀酸裂解酶缺乏症，由于社会经济因素和父母的忽视，在她生命的前 16 年里，她在护理方面遇到了很大的障碍。在外祖母的照顾下，她接受了适当的治疗，包括氮清除剂、氨基酸补充剂和低蛋白饮食。然而，由于在生命早期反复出现高氨血症危机，她几乎无法与人交流，也无法进行日常生活活动。在最后一次高氨血症危机期间，她来到了一家不熟悉尿素循环紊乱且没有代谢服务的医院。结果，她没有得到最佳治疗而死亡。

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Fatal consequences of limited health literacy in a patient with a rare metabolic disease

A Black young adult female diagnosed with argininosuccinate lyase deficiency at 6 months of age encountered significant barriers to care for the first 16 years of her life due to socioeconomic factors and parental neglect. Once in the care of her paternal grandmother, she received appropriate treatment with a nitrogen scavenger, amino acid supplementation, and a low-protein diet. However, due to repeated hyperammonemic crises early in her life, she was minimally communicative and unable to perform activities of daily living. During her final hyperammonemic crisis, she presented to a hospital unfamiliar with urea cycle disorders and without a metabolic service. As a result, she did not receive optimal care and died.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.