Chest Wall Deformities in Children - Epidemiological Data
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 96
- 试验地点
- 2
- 主要终点
- familial accumulation of breast wall deformities Questionnaire
研究概览
简要总结
Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The etiology of PE is largely undefined, but there are numerous indications that genetic factors play a role in the development of PE. Up to 40% of patients report affected family members with similar congenital deformities. In many families, PE follows a pattern that would be compatible with an autosomal dominant or recessive pattern of inheritance. The data on the frequent occurrence of PE in family members fluctuate greatly and only a few genes associated with a PE have been identified so far.
详细描述
Previous studies suggest that sulfation of proteoglycans plays a crucial role in the normal development of cartilage and bone and could therefore be crucial in the genesis of the disease. The main catalytic machinery responsible for the biosynthesis and breakage of sulfate esters in the proteoglycans consists of various enzymes and transporters. Mutations in Sphingosine Kinase 1 (SK1) and Sphingosine Kinase 2 (SK2) genes that encode the transmembrane transporters of sulfate or enzymes that are involved in 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthesis have been identified as the cause of several inherited diseases that all have skeletal system deformities.
Connections between chest wall deformities with syndromes (e.g. Marfan, Noonan), anomalies (e.g. Poland, Moebius) or associations (e.g. Cantrell Pentalogy, PHACE) are well known. In contrast, there have so far been hardly any genetic studies of the isolated congenital chest wall deformities. Epidemiological data are insufficient and only a few groups deal with the inheritance and the incidence of this disease when it occurs in isolation.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 6 Years 至 30 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •. All patients who are in the Altona Children's Hospital or in the University Hospital Hamburg. Funnel breast, keel breast, sternal cleft
- •. A signed declaration of consent from the parents or legal guardians is available
- •. The patient has given a declaration of consent
排除标准
- •Confirmation of another diagnosis associated with chest wall deformities:
- •Marfan syndrome
- •Noonan syndrome
- •Poland syndrome
- •Moebius syndrome
- •Cantrell Pentalogy
- •PHACE association
结局指标
主要结局
familial accumulation of breast wall deformities Questionnaire
时间窗: Through study completion, an average of 1 year
次要结局
- Recording of clinical side effects on the familial accumulation of chest wall deformities(Through study completion, an average of 1 year)
研究者
Dr. med. Julian Trah
Medical Doctor
Universitätsklinikum Hamburg-Eppendorf