PDF(Pubmed)
Abstract：
UNASSIGNED: Primary ciliary dyskinesia (PCD) is a group of autosomal recessive genetic diseases caused by abnormal ciliary ultrastructure and/or function, resulting in reduced ciliary clearance function or other dysfunctions. PCD is one of the causes of recurrent respiratory tract infections in children. At present, there is no gold standard for diagnosis. In patients clinically suspected with PCD, a variety of examination methods are available to assist in diagnosis, such as high-speed video microscopic imaging to analyze ciliary movement patterns, transmission electron microscopy to observe ciliary ultrastructure, genetic testing, and detection of nitric oxide content in nasal expiratory air.
UNASSIGNED: We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. We treated the child with recombinant human growth hormone to increase the height, and the patient was also advised to improve nutrition, prevent and control infections, and encouraged sputum expectoration. We also recommended regular follow-up visits to the outpatient department, and to seek other symptomatic and supportive treatments as necessary.
UNASSIGNED: The height and nutritional status of the child improved after treatment. We also reviewed relevant literature to help clinicians improve their understanding of this disease.
UNASSIGNED: We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. We treated the child with recombinant human growth hormone to increase the height, and the patient was also advised to improve nutrition, prevent and control infections, and encouraged sputum expectoration. We also recommended regular follow-up visits to the outpatient department, and to seek other symptomatic and supportive treatments as necessary.
UNASSIGNED: The height and nutritional status of the child improved after treatment. We also reviewed relevant literature to help clinicians improve their understanding of this disease.
摘要：
■原发性纤毛运动障碍（PCD）是一组由纤毛超微结构和/或功能异常引起的常染色体隐性遗传疾病，导致纤毛清除功能降低或其他功能障碍。PCD是儿童反复呼吸道感染的原因之一。目前,诊断没有金标准。在临床怀疑患有PCD的患者中，多种检查方法可用于辅助诊断，如高速视频显微成像分析纤毛运动模式，透射电镜观察睫状超微结构，基因检测,并检测鼻腔呼气中一氧化氮的含量。
■我们在c.323del提供了一个由CCNO突变（NM-021147.5）的新外显子1诱导的PCD和身材矮小的儿童的临床数据和治疗过程的病例摘要，先证者的父亲和母亲是杂合突变者，谁是诊断和治疗在我们医院的儿科保健科。我们用重组人生长激素治疗孩子以增加身高，患者还被建议改善营养，预防和控制感染，并鼓励排痰。我们亦建议定期到门诊复诊,并在必要时寻求其他对症和支持性治疗。
■治疗后，儿童的身高和营养状况有所改善。我们还回顾了相关文献，以帮助临床医生提高对这种疾病的认识。
■我们在c.323del提供了一个由CCNO突变（NM-021147.5）的新外显子1诱导的PCD和身材矮小的儿童的临床数据和治疗过程的病例摘要，先证者的父亲和母亲是杂合突变者，谁是诊断和治疗在我们医院的儿科保健科。我们用重组人生长激素治疗孩子以增加身高，患者还被建议改善营养，预防和控制感染，并鼓励排痰。我们亦建议定期到门诊复诊,并在必要时寻求其他对症和支持性治疗。
■治疗后，儿童的身高和营养状况有所改善。我们还回顾了相关文献，以帮助临床医生提高对这种疾病的认识。
