鸟氨酸转氨甲酰酶缺乏症杂合子携带者乳腺癌患者的化疗
Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency.
作者信息
Palka-Kotlowska Magda, Cabezón-Gutiérrez Luis, Custodio-Cabello Sara, Quijada-Fraile PIlar, Chumillas-Calzada Silvia
机构信息
Clinical Oncology, Hospital Universitario de Torrejón, Madrid, ESP.
Medical Oncology, Hospital Universitario de Torrejón, Madrid, ESP.
出版信息
Cureus. 2020 May 26;12(5):e8301. doi: 10.7759/cureus.8301.
Abstract
Urea cycle disorders (UCDs) are an unusual genetic condition that may lead to hyperammonemia in catabolic situations such as surgery, infections or chemotherapy administration. Without specific treatment, it causes life-threatening encephalopathy. We present the case of a young woman, heterozygous carrier of ornithine transcarbamylase deficiency (OTCD) with breast cancer, who was treated with surgery, chemotherapy, radiotherapy and hormone therapy while following a protocol to minimize the risk of metabolic decompensation due to her condition.
摘要
尿素循环障碍（UCDs）是一种罕见的遗传疾病，在手术、感染或化疗等分解代谢情况下可能导致高氨血症。若不进行特殊治疗，会引发危及生命的脑病。我们报告一例年轻女性病例，她是鸟氨酸转氨甲酰酶缺乏症（OTCD）的杂合子携带者，患有乳腺癌，在接受手术、化疗、放疗和激素治疗的同时，遵循一项方案以将因其病情导致代谢失代偿的风险降至最低。
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