1例歌舞伎面谱综合征合并特发性肺含铁血黄素沉着症患儿的护理

doi:10.3761/j.issn.0254-1769.2022.24.013

摘要/Abstract

摘要：

总结1例因基因突变导致歌舞伎面谱综合征合并特发性肺含铁血黄素沉着症患儿的护理经验。护理要点：选择合适的呼吸支持治疗方式，改善缺氧症状；缺氧改善后及时进行离氧训练，促进呼吸功能恢复；加强气道管理，控制肺部感染；尽早输血、补充铁剂，纠正贫血；采用激素冲击治疗，避免药物不良反应；选择合适的喂养方式，促进病情恢复；开展家庭参与式护理，提高患儿出院后生活质量。经42 d的治疗及护理，患儿肺部情况好转并顺利出院。

关键词: 歌舞伎面谱综合征, 肺含铁血黄素沉着症, 儿科护理学

Abstract:

To summarize the nursing experience of a case of Kabuki syndrome complicated with idiopathic pulmonary hemosiderosis caused by heterozygous mutation of H3 lysine 4 methylase. Key points of nursing include：to choose the appropriate respiratory support treatment to improve the symptoms of anoxia；to carry out the deoxygenation training in a timely manner after the improvement of anoxia to promote the recovery of respiratory function；to strengthen airway management to control pulmonary infection；to conduct blood transfusion and iron supplementation as soon as possible to correct anemia；to carry out hormone shock therapy to avoid adverse drug reactions；to select reasonable feeding methods to promote the recovery of the disease；to carry out family participatory nursing care to improve the quality of life of the child after discharge. After 42 days of related treatment and nursing，the lung condition of the child improved，and the child was discharged smoothly.

Key words: Kabuki Syndrome, Pulmonary Hemosiderosis, Pediatric Nursing

谢畅, 刘芳. 1例歌舞伎面谱综合征合并特发性肺含铁血黄素沉着症患儿的护理[J]. 中华护理杂志, 2022, 57(24): 3026-3029.

XIE Chang, LIU Fang. Nursing care of a child with Kabuki syndrome complicated with idiopathic pulmonary hemosiderosis[J]. Chinese Journal of Nursing, 2022, 57(24): 3026-3029.

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