Registry Study on Respiratory Monogenic Diseases in Chinese Children

Beijing Children's Hospital

This study is a multicenter, prospective cohort study of patients diagnosed with respiratory monogenic diseases, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 5 years.

All new cases of respiratory monogenic diseases was confirmed or diagnosed at each center from the beginning of the study are made the investigation of the clinical manifestations and specific tests by the standard diagnostic process.Then all the patients' following clinical data will be followed for 5 years: clinical manifestations, lung function, chest imaging (once per year), gene test, quality of life and other indicators.

Inclusion Criteria:

1. Age: 0-18 years, male and female.
2. Any organ system symptoms consistent with the diagnostic points of respiratory monogenic diseases.
3. Agree to retain specimens related to disease research and agree to store the specimens in the sample bank.
4. willing and able to cooperate with long-term follow-up.
5. The guardian of the child has a full understanding of the purpose of the study, a basic understanding of the clinical research program, and voluntarily allows the child to participate in the study and sign an informed consent form.

Exclusion Criteria:

1. It is unable to provide complete medical records or the current condition can not accept the diagnosis process
2. She or he cannot agree to participate in the study.