Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China
Recruitment of a carefully characterized cohort of chILD patients, to generate a database and
 biobank via collecting data on chILD in China. Importantly, compatibility with ongoing United
 States and Europe chILD data base developments will be factored in.
Children Interstitial lung disease (chILD) is a heterogeneous group of rare respiratory
 disorders of known and unknown etiologies that are mostly chronic and associated with high
 morbidity and mortality. ILD are characterized by inflammatory and fibrotic changes of the
 lung parenchyma structure that typically result in the presence of diffuse infiltrates on
 lung imaging, and abnormal pulmonary function tests with evidence of a restrictive
 ventilatory defect and/or impaired gas exchange.

 Genetic factors are important contributors to chILD. Genetic variations have been mainly
 described in genes encoding (or interacting with) the surfactant proteins (SP): SP-C (SFTPC)
 and the ATP-binding cassette-family A-member 3 (ABCA3) (ABCA3), and less frequently in the
 genes encoding NKX homeobox 2 (NKX2)-1 (NKX2-1), SP-B (SFTPB), SP-A (SFTPA) ,MARS and other
 genes.

 To investigate genetic defects and clinical features of chILD in China, wide recruitment and
 interdisciplinary critical peer review of all diagnoses from discharge diagnosis coding
 system of Children's Hospital of Fudan University will be included. Each case will be given a
 diagnosis independently; if no firm diagnosis is possible, the investigators will review the
 case periodically as new information becomes available. During the first year of the study,
 clinicians´ decisions according to clinical practice and outcomes will be independently
 monitored and assessed.

 The investigators will systematically optimize and clarify the relative weight of a large
 spectrum of single and composite clinical outcomes, sequential limited chest CT (to minimise
 radiation exposure), lung function testing, histopathological categorization of lung
 biopsies, serum markers and genetic tests. Variability, reproducibility and the effects of
 training on reading images will be investigated.

 This project will analyse in detail treatment and outcomes within and between subjects using
 data collected. Analysis of the collected data will support the definition of trial protocols
 planned in the future.
Inclusion Criteria:

 -  The chILD syndrome exists when a child with DLD has had the common causes of DLD
 excluded as the primary diagnosis and has at least three of the following four
 criteria: (1) respiratory symptoms (e.g., cough, rapid and/or difficult breathing, or
 exercise intolerance);(2) respiratory signs (e.g., resting tachypnea, adventitious
 sounds, retractions, digital clubbing, failure to thrive, or respiratory fail- ure);
 (3) hypoxemia; and (4) diffuse abnormalities on CXR or a CT scan.

 Exclusion Criteria:

 -  These include cystic fibrosis, congenital or acquired immunodeficiency, congenital
 heart disease, bronchopulmonary dysplasia, pulmonary infection, primary ciliary
 dyskinesia presenting with newborn respiratory distress and recurrent aspiration.