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NBAS基因突变所致发热相关复发性急性肝功能衰竭一例的临床特征分析并文献复习
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Abstract:
目的：分析NBAS基因突变所致复发性急性肝功能衰竭患儿的临床特征及诊治要点以提高临床上对该病的识别及诊疗能力。方法：回顾性分析重庆医科大学附属儿童医院消化内科收治的1例NBAS基因突变所致复发性急性肝功能衰竭患儿的临床特征、诊疗经过及随访情况，并NBAS基因突变相关文献的复习。结果：9岁4月女性患儿因反复发热后转氨酶显著升高于2022年2月19日至2024年2月29日期间先后共5次于重庆医科大学附属儿童医院住院治疗，诊断急性肝功能衰竭，予以保肝、抗感染、维生素K1、丙种球蛋白、维持内环境稳定等对症支持治疗后均好转出院，完善基因检测发现NBAS基因有c.1341 + 1G > T(p.?)及c.3596G > A (p.Cys1199Tyr)共2处杂合突变，诊断为NBAS基因突变所致发热相关复发性急性肝功能衰竭，出院后嘱患儿避免发热及发热后需积极退热并完善肝功、凝血功能检测，随访至今患儿肝功能系正常范围。结论：对于发热后出现的反复急性肝功能衰竭的儿童，应警惕NBAS基因突变所致发热相关复发性急性肝功能衰竭可能，尽早完善基因检查可协助明确诊断，病期积极的评估脏器功能、维持内环境稳定及控制体温是治疗的关键，发病期间需合理的预防发热相关性疾病及定期随访。
Objective: To analyze the clinical features and main points of diagnosis and treatment of recurrent acute liver failure caused by NBAS gene mutation in order to improve the ability of diagnosis and treatment of this disease. Methods: The clinical features, treatment and follow-up of a child with recurrent acute liver failure caused by NBAS gene variation admitted to the Department of Gastroenterology, Children’s Hospital Affiliated to Chongqing Medical University were retrospectively analyzed, and the literature related to NBAS gene variation was reviewed. Results: A 9-month-old female child was hospitalized for 5 times in the Children’s Hospital Affiliated to Chongqing Medical University from February 19, 2022 to February 29, 2024 due to a significant increase in transaminase after repeated fever, and was diagnosed with acute liver failure. After symptomatic supportive treatment, such as liver protection, anti-infection, vitamin K1, gamma globulin, and maintaining internal environment stability, they were all discharged from the hospital. Genetic testing was improved and it was found that the NBAS gene had 2 heterozygous mutations including c.1341 + 1G > T(p.?) and c.3596G > A (p.Cys1199Tyr), which were diagnosed as fevers related recurrent acute liver failure caused by NBAS gene mutation. After discharge, the child was instructed to avoid fever and to actively reduce fever after fever and improve liver function and coagulation function tests. Up to now, the liver function of the child was in the normal range. Conclusion: For children with recurrent acute liver failure after fever, it is necessary to be alert to the possibility of recurrent acute liver failure caused by NBAS gene mutation. Improving genetic examination as soon as possible can help to make a clear diagnosis. The key to treatment is to actively evaluate the function of organs during the disease period, maintain internal environment stability and control body temperature. Reasonable prevention of fever related diseases and regular follow-up are
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