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五岁患儿因 ABCA3 基因突变导致肺间质纤维化,成功实施双肺移植。

Successful bilateral lung transplantation in a five-year-old child with pulmonary interstitial fibrosis caused by an ABCA3 gene mutation.

机构信息

Lung Transplant Center, Department of Thoracic Surgery, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center, Nanjing Medical University, Wuxi, China.

Lung Transplant Center, Department of Thoracic Surgery, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi People's Hospital, Wuxi Medical Center, Nanjing Medical University, Wuxi, China.

出版信息

Transpl Immunol. 2024 Aug;85:102056. doi: 10.1016/j.trim.2024.102056. Epub 2024 May 24.

Abstract

The ATP-binding cassette subfamily A member 3 (ABCA3) protein plays a fundamental role in surfactant homeostasis. Most children with ABCA3 gene mutations develop pulmonary interstitial fibrosis leading to the development of interstitial lung disease. Since traditional medicine does not offer effective therapy, the best option is lung transplantations, especially bilateral lung transplantations. We are reporting the case of a successful bilateral lung transplantation in a five-year-old child with pulmonary interstitial fibrosis caused by ABCA3 gene mutations. This successful transplantation enabled the patient to get rid of chronic cough and tachypnea.

摘要

三磷酸腺苷结合盒亚家族 A 成员 3(ABCA3)蛋白在表面活性剂动态平衡中发挥着基本作用。大多数 ABCA3 基因突变的儿童会发展为肺间质纤维化,进而导致间质性肺病。由于传统药物治疗效果不佳,最佳选择是肺移植,尤其是双肺移植。我们报告了一例由 ABCA3 基因突变引起的肺间质纤维化五岁儿童成功进行双侧肺移植的病例。这次成功的移植使患者摆脱了慢性咳嗽和呼吸急促。

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