成功诊治皮肤移植术后高氨血症综合征1例报告及文献回顾41例评价分析

Successful management of hyperammonemia syndrome in a patient after skin transplantation: a case report and a literature review on 41 patients

高氨血症综合征(HS)是一种以血氨水平显著升高继发呼吸性碱中毒、急剧的意识状态改变为特征的临床综合征,是移植术后一种比较少见的高致死性疾病。HS的发病机制尚未完全明确,近年来有研究提示产氨微生物感染可能是该综合征的病因。2018年3月天津市第一中心医院收治1例皮肤移植术后HS患者,临床表现为发热、昏迷、抽搐,血液标本高通量基因检测确定为人型支原体感染,经过抗感染、持续血液净化、乳果糖酸化肠道、机械通气等综合治疗,患者意识转清、体温控制、呼吸平稳,并顺利转出重症加强治疗病房(ICU)。结合病例救治经验,通过对HS的流行病学及临床表现、病因及发病机制、治疗策略及预后进行文献回顾,以提高临床医师对该少见病的认识。

Hyperammonemia syndrome (HS) is a comparatively rare but often fatal clinical syndrome characterized by progressive respiratory alkalosis and abrupt mental status alteration associated with markedly elevated plasma ammonium levels. Although the exact mechanism of HS remains unclear, infection with urease producing microbes is proposed as the main etiology of HS recently. A patient with HS after repeated autologous skin transplantation was admitted to Tianjin First Center Hospital in March 2018, presented with fever, coma and epilepsy. The infection of Mycoplasma hominis was confirmed in blood sample by high throughput gene detection. The patient was survived after multimodal management including antimicrobial treatment, aggressive ammonia removal by continuous renal replacement therapy in combination with lactulose, and mechanical ventilation. She was successfully discharged from intensive care unit (ICU) with clear consciousness, normal temperature and smooth breath. In view of the experience of the case treatment, a review of literature was conducted to discuss the epidemiology and clinical characteristics, possible etiologies and mechanisms, and outcomes with emphasis on treatment strategies of HS and to promote more clinicians to recognize this rare disease.