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Table 2 Categorization and diagnosis - Entities mainly prevalent in infants (A), continues table 1

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
10 Unclear RDS in the mature neonate Blepharo stenosis bilateral, pigmentation abnormalitis of the retina, cutis laxa, minor syndromic abnormalities, ventricle septal defect A4, possible VSD, hypoglycemia, choanal stenosis, blepharo stenosis R yes no yes
11 Unclear RDS in the mature neonate n.d. A4, possible PDA, neonatal infection, small for date R yes no Yes
12 Unclear RDS in the mature neonate Familial, pneumothorax A4, possible Hyperbilirubinemia, arterial hypotonia U yes no yes
13 Unclear RDS in the mature neonate n.d. A4, possible   R no no yes
14 Unclear RDS in the mature neonate Pulmonary hypertension, recurrent pneumothoraces A4, possible Persistant fetal circulation, acute renal failure, central disorder of muscle tone and coordination, suspected neonatal infection U yes no no
15 Unclear RDS in the mature neonate n.d. A4, possible   R no no n.k.
16 No further categorisation n.d. Ax Recurrent airway infections R no no n.k.
17 No further categorisation n.d. Ax Velofacial syndrome (CATCH 22) R no no yes
18 No further categorisation n.d. Ax   R no n.k. n.k.
19 Infant conditions of undefined etiology NEHI A3 GERD U yes NEHI yes
20 Infant conditions of undefined etiology Chronic tachypnoe of infancy (CTI) A3 Hemangioma lower lip R yes no yes
21 Infant conditions of undefined etiology NEHI A3 Failure to thrive U yes NEHI 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.