MARS1基因变异所致间质性肺病及肝病1例

A case of interstitial lung and liver disease caused by MARS1 gene mutation

摘要:

患儿，女，4个月9 d，因反复发热、咳嗽伴肝大1月余入院。患儿系健康足月儿，出生史正常，自生后2个月22 d出现反复发热、咳嗽，不能离氧，胸部影像学提示双肺弥漫性病变，纤维支气管镜检查示双肺间质样改变，考虑存在间质性肺病。患儿同时存在肝大、贫血、高脂血症、甲状腺功能减退、营养不良等。基因检测提示患儿存在MARS1基因复合杂合变异。该变异可致间质性肺病及肝病，是一种在婴儿期或幼儿期发病的严重罕见疾病，为常染色体隐性遗传，以婴儿或幼儿早期呼吸功能不全和肝病为特征。自2013年该病被首次报道以来，至2023年6月全球仅有38例相关病例报道。该文报道1例MARS1基因变异所致间质性肺病及肝病患儿的多学科诊疗。

Abstract:

The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.