反复肺部感染及口腔黏膜溃疡

发布时间：2018-05-15 04:31

本文选题：先天性角化不良 + 肺部感染　；参考：《中国当代儿科杂志》2017年04期

【摘要】：8岁女性患儿,因间断咳嗽、发热3年余,再发1月余入院。近1年反复出现口腔黏膜溃疡。体格检查发现右上背部皮肤色素脱失。外院多次查血常规和免疫功能正常。多次肺部CT提示肺部感染病灶,经抗感染治疗,发热咳嗽仍反复,右肺部病变持续存在,抗结核治疗无效。多次血常规检查发现粒细胞缺乏,行基因检测,确定为RTEL1基因纯合突变所致先天性角化不良(DC)。RTEL1基因突变的先天性角化不良患者易出现肺部并发症。由于RTEL1基因序列有高度可变性,突变位点很多,突变方式多样,且可以通过常染色体显性或隐性遗传方式遗传,因此其临床表现多样,易致漏诊及误诊。对不明原因反复肺部感染的患儿,应注意口腔、皮肤和指趾甲的检查并监测血常规以排除DC。DC目前无特效治疗,出现骨髓衰竭和肺功能衰竭时,造血干细胞移植和肺移植是目前唯一的治疗方法,雄激素及其衍生物对部分病人有效,针对端粒途径的靶向药物有望给DC患者带来希望。
[Abstract]:8-year-old female children, due to intermittent cough, fever for more than 3 years, and then 1 month after admission. In the past year, oral mucosal ulcers were repeatedly found. Physical examination revealed a loss of pigmentation on the right upper back. The blood routine examination and immune function were normal. Multiple lung CT showed that pulmonary infection focus, after anti-infection treatment, fever and cough is still repeated, the right lung lesions persist, anti-tuberculosis treatment is ineffective. Many times of blood routine examination found that granulocyte deficiency, gene detection, confirmed that the RTEL1 gene homozygous mutation caused by congenital dyskeratosis, DC.RTEL1 gene mutation congenital keratosis patients are prone to complications in the lungs. Because the RTEL1 gene sequence is highly variable, there are many mutation sites, the mutation mode is various, and can be inherited by autosomal dominant or recessive inheritance, so its clinical manifestations are various, and it is easy to miss diagnosis and misdiagnosis. For children with repeated pulmonary infection of unknown cause, we should pay attention to the examination of oral cavity, skin and toenail, and monitor blood routine to exclude the absence of effective treatment for DC.DC, bone marrow failure and pulmonary failure. Hematopoietic stem cell transplantation and lung transplantation are the only treatment methods. Androgen and its derivatives are effective in some patients. The target drugs for telomere pathway are expected to bring hope to DC patients.
【作者单位】：中南大学湘雅医院儿科;
【基金】：国家自然科学基金(81570154;81400138)
【分类号】：R725.6;R781.5

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