Birt-Hogg-Dubé Syndrome
Conditions
Interventions
Research group:None
Sponsors
Peking Union Medical College Hospital
Eligibility
Sex/Gender
All
Age
18 Years to 80 Years
Inclusion criteria
Inclusion criteria: 1.Patients diagnosed with Birt-Hogg-Dubé syndrome through clinical examination, genetic testing (pathogenic mutations in the FLCN gene), or pathological examination; 2.Age is not a factor and both men and women are welcome. 3.The medical record is complete and should at least include the following core information: demographic characteristics, age of onset, disease course, clinical symptoms (characteristics of skin lesions, systemic involvement), laboratory tests, imaging/pathological examination results, family history, treatment plan, and follow-up records.The medical record is complete and should at least include the following core information: demographic characteristics, age of onset, disease course, clinical symptoms (characteristics of skin lesions, systemic involvement), laboratory tests, imaging/pathological examination results, family history, treatment plan, and follow-up records.
Exclusion criteria
Exclusion criteria: 1.Those who are clinically suspected of having BHD syndrome but have not been confirmed by genetic or pathological examination. 2.Clinical medical records with incomplete data, lacking key information such as core clinical manifestations, treatment plans, and follow-up outcomes, and thus unable to meet the requirements for research analysis; 3.There were no clear follow-up records, or the patients withdrew voluntarily or were lost to follow-up during the follow-up period, making it impossible to obtain information on therapeutic effects and prognosis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical manifestations; | — |
Secondary
| Measure | Time frame |
|---|---|
| Blood routine;Liver and kidney function; | — |
Countries
China
Contacts
Public ContactTao Wang
Peking Union Medical College Hospital
Outcome results
None listed