Abstract

Introduction: ChILD are a rare disease group that is difficult to diagnose and classify due to being a heterogeneous group of diseases related to high mortality.

Aims and objectives: The chILD registry system in Turkey was established in order to increase awareness of disease in collaboration with centers to increase diagnostic and treatment standards. This would help to create a profile of clinical and demographic characteristics of patients in our country. Here, first results of chILD registry system were presented.

Methods: In this prospective cohort study, data were collected using a data?entry software system. Demographic characteristics, clinical, laboratory, radiological findings, diagnoses and treatment characteristics of the patients were evaluated.

Results:416 patients registered from 19 centers. According to chILD disease categories, of the patients, 82(19.7%) were newborn/infant, 287(68.9%) were in all age groups, and 19(4.9%) were in the group of unknown cause. In the newborn/infant group, the most common presentation findings were tachypnea(47.6%) and shortness of breath(33.3%), while in all age groups, cough(63.4%) and recurrent respiratory tract infections(35.9%). 361(92.6%) patients had at least one chest CT. Bronchoscopy was performed in 153(39.2%), genetic examination was performed in 122(31.3%), lung biopsy was performed in 57(14.6%) patients. 277(71%) of the patients were receiving treatment. 16(4.1%) patients were listed for lung transplantation. 25 (5.4%) of the patients died.

Conclusions: Data from the national chILD registry system in its first year shows that physicians need collaboration in the diagnosis and treatment of these patients in this regard.