Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

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

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

*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