背景:分析1例22q11.2缺失综合征(22q11DS)合并肺泡蛋白沉积症(PAP)患儿的临床资料和NGS结果,并对其进行文献复习。
方法:一个9岁的男孩,他们的脸有一个小的下颌骨和高拱形的腭,但缺少腭裂,反复呼吸道感染和支气管扩张。临床检查,计算机断层扫描,进行电子支气管镜检查。通过NGS进行基因检测。通过电子支气管镜分离的乳白色肺泡灌洗液的高碘酸希夫染色证实了PAP。通过NGS确认染色体22q11.2上大约2.46Mbp的缺失。住院期间,抗感染,雾化,肺泡灌洗,并定期应用胸腺肽。治疗后患者病情稳定。
结论:22q11DS和PAP都是罕见疾病,22q11DS合并PAP的表现以前没有报道。该病例的诊断和治疗将为今后的临床工作提供参考。
To analyze the clinical data and next generation sequencing (NGS) results from a child with 22q11.2 deletion syndrome (22q11DS) complicated with pulmonary alveolar proteinosis (PAP) who was admitted to the Department of Pediatrics of Fuyang People\'s Hospital and to present a review of the literature.
A 9-year-old male child, whose face had a small mandible and high-arched palate, but lacked a cleft palate, had repeated respiratory tract infections and bronchiectasis. Clinical examination, computer tomography, and electronic bronchoscopy were performed. Genetic testing via NGS was undertaken. PAP was confirmed by Periodic Acid Schiff staining of milky white alveolar lavage fluid isolated by electronic bronchoscopy. A deletion of approximately 2.46 Mbp on chromosome 22q11.2 was confirmed by NGS. During hospitalization, anti-infection, nebulization, alveolar lavage, and regular application of thymosin were administered to the patient. The condition of the patient stabilized following treatment.
22q11DS and PAP are both rare diseases, and the manifestation of 22q11DS combined with PAP has not been previously reported. The diagnosis and treatment of this
case will be a reference for future clinical work.