Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

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

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

*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.
**Two mutations means compound heterozygous or homozygous mutations in the ABCA3 gene
***Diagnosis in co-operation with German consultation network for rare lung diseases
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.

ISSN: 1750-1172