Li Jinying, An Shuhua, Du Zhongdong
Department of Pediatrics, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Department of Respiratory, Children's Hospital of Hebei Province, Shijiazhuang, China.
Front Pediatr. 2020 Sep 8;8:543. doi: 10.3389/fped.2020.00543. eCollection 2020.
Mutations that affect the (TMEM173) gene cause a rare autoinflammatory syndrome, which is known as STING-associated vasculopathy with onset in infancy (SAVI) and which was initially described in 2014 (1). Thus far, only four reports have been conducted regarding families affected with SAVI in the literature. In this article, the clinical, laboratory, and genetic characteristics of two generations (three cases) of SAVI are described. Unlike previously reported cases that were caused by mutation, the initial and major clinical manifestations of the mentioned cases are largely identified in the lungs with interstitial lung disease (ILD), and the evidence of typical extrapulmonary symptoms of early-onset systemic inflammation (e.g., cutaneous vasculopathy) were minimal except for the proband, who was diagnosed with arthritis 8 years after onset. In addition, a younger sibling showed no symptoms. Such reports are rarely related to mutations in . The proband was examined with bronchoscopy and alveolar lavage to determine the cause. This study emphasizes that, in the clinical assessment of interstitial pneumonia in children, the possibility of mutation should be considered, especially in patients with arthritis in addition.
影响（TMEM173）基因的突变会导致一种罕见的自身炎症综合征，即婴儿期起病的STING相关血管病（SAVI），该病于2014年首次被描述（1）。迄今为止，文献中仅有四篇关于SAVI患者家系的报道。本文描述了两代（三例）SAVI患者的临床、实验室及遗传学特征。与之前报道的由突变引起的病例不同，上述病例的初始及主要临床表现大多出现在肺部，表现为间质性肺疾病（ILD），除先证者在发病8年后被诊断为关节炎外，早期全身性炎症典型的肺外症状（如皮肤血管病）证据极少。此外，一名年幼的同胞未出现症状。此类报道很少与突变相关。对先证者进行了支气管镜检查及肺泡灌洗以明确病因。本研究强调，在儿童间质性肺炎的临床评估中，应考虑突变的可能性，尤其是同时患有关节炎的患者。
