Skip to main content

Table 1 Categorization and diagnosis - Entities mainly prevalent in infants (A)

From: Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

Patient No. Interstitial lung disease Final pulmonary diagnosis Classifi-cation of pediatric DPLD* Additional diagnosis Center type Coop-Diagnosis*** Lung biopsy, result Genetics SFTPB, SFTPC, ABCA3
1 Related to alveolar surfactant region SP-B deficiency, SFTPB mutations A4   R yes CPI yes
2 Related to alveolar surfactant region SP-C deficiency, SFTPC mutation A4 GERD U no NSIP, Cholesterol pneumonitis yes
3 Related to alveolar surfactant region ABCA3 two mutations**, SFTPC mutation A4 Neonatal infection with E. coli, hyperglycemia, anemia U yes No yes
4 Related to alveolar surfactant region ABCA3 two mutations** A4   R yes CPI yes
5 Related to alveolar surfactant region ABCA3 two mutations** A4 Failure to thrive U yes DIP yes
6 Related to alveolar surfactant region ABCA3 one mutation, low SP-C in lavage A4 Partial IgA deficiency U yes DIP, post infectious residuals Yes
7 Related to alveolar surfactant region NSIP A4   U no NSIP, Cholesterol pneumonitis n.k.
8 Related to alveolar surfactant region PAP, juvenile, sporadic A4   U yes PAP No
9 Unclear RDS in the mature neonate SP-C deficiency, (extremely low lavage level) A4, possible Partial albinism, bilateral inner ear deafness, microcephalus, hypertrophic cardiomyopathy, diaper rash, failure to thrive, dyskinesia U yes no Yes
  1. *Classification of pediatric DPLD according to Deutsch et al 2007; entities mainly prevalent in infants (A; i.e. diffuse developmental disorders (A1), alveolarization abnormalities (A2), specific conditions of undefined etiology (A3) and surfactant dysfunction disorders (A4)). Entities occurring at all ages (B; i.e. related to systemic diseases (B1), in immune-intact hosts (B2), in immunocompromised hosts (B3) and disorders masquerading as DPLD (B4)). A4, possible; Ax and Bx denote children with the clear clinical diagnosis of pediatric DPLD, in whom however the diagnostic process was stopped prematurely.
  2. **Two mutations means compound heterozygous or homozygous mutations in the ABCA3 gene
  3. ***Diagnosis in co-operation with German consultation network for rare lung diseases
  4. Abbreviations: HSP, Hypersensitivity pneumonitis, NEHI, Neuroendocrine cell hyperplasia of infancy; PAP, pulmonary alveolar proteinosis; NSIP, non-specific interstitial pneumonitis; DIP, desquamative interstitial pneumonitis; R, regional hospital; U, University hospital; n.d., not determined; SFTPB or SFTPC, gene encoding surfactant protein B or C.