The labyrinth of neonatal and pediatric ILD
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1 The labyrinth of neonatal and pediatric ILD Matthias Griese München
2 child-eu Register and biobank
3 child-eu Register and biobank until cases entered 378 peer-reviewed and diagnosed into the child categories A1 to A4, and B1 to B5
4 Prevalence of pulmonary hypertension
5 The labyrinth
6 Classification Primary manifestation of the lung disease: A characteristic for infants A1 Diffuse developmental disorders A2 Growth abnormalities reflecting deficient alveolarisation A3 Infant chronic tachypnoe and firm morphology A4 Surfactant dysfunction disorders 2.5 y old
7 B all age groups (1) Related to systemic disease processes (2) Exposition and immuneintact (3) Immunocompromised host or transplanted (4) Related to lung vessels structural processes (5) Related to reactive lymphoid lesions
8 A1 - Diffuse developmental disorders A1 - DPLD related to Diffuse developmental disorders Number of patients ACD (Alveolar capillary dysplasia) 4 ACD +FOXF1 mutation 2 ACD no misalign. +anophthalmia, etc 1 Congenital alveolar dysplasia 2 Total 9
9 A1 - Diffuse developmental disorders
10 A2- Growth abnormalities deficient alveolarisation A2 - DPLD-Growth abnormalities deficient alveolarisation Number of patients Related to preterm birth (BPD-cLDI) 11 Related to preterm birth (Wilson Mikity, new BPD) 1 Related to chromosomal disorders 8 Pulmonary hypoplasia 3 Total 23
11 A2- Growth abnormalities deficient alveolarisation
12 A3- Infant conditions of undefined etiology Persistent Tachypnea of Infancy (PTI) Infants, after exclusion of surfactant dysfunction disorders, immune deficiencies, CF, PCD, cardiac disease Diagnosis based on Symptoms and CT tachypnea 100% crackles 86% retractions 82% failure to thrive 66% hypoxemia 88% Rauch et al, AJRCM 2015
13 Persistent Tachypnea of Infancy (PTI) Rauch et al, AJRCM 2015
14 A3- Infant conditions of undefined etiology A3 - DPLD related to Infant conditions of undefined etiology Number of patients Persistent tachypnoe of infancy (PTI) 38 Neuroendocrine cell hyperplasia of infancy (NEHI) 29 Pulmonary interstitial glycogenosis (PIG) 8 Total 75
15 A3- Infant conditions of undefined etiology
16 A4- Alveolar surfactant region A4 - DPLD related to the alveolar surfactant region Number of patients Genetic diagnosis ABCA3 mutations 2.5 y old 22 Nkx21 gene defect 3 Surfactant protein C mutations 12 PAP, GM-CSF-RA Mutation 5 Histologic diagnosis Acute Fibrinous and Organizing Pneumonia 1 Alveolar microlithiasis 3 Chronic pneumonitis of infancy (CPI) 1 Cryptogenic Organizing Pneumonia (BOOP) 1 DIP 5 Nonspecific interstitial pneumonia (NSIP) 50 NSIP, DIP pattern 6 PAP, juvenile 6 Usual interstitial pneumonitis 1 None given 7 Total 123
17 A4- Alveolar surfactant region
18 Summary (1) child represent a large group of diffuse parenchymal lung diseases / interstitial lung diseases (ILD) Putting into categories is important Systematic knowledge on PH in these conditions is scarce In the child-eu register cohort 70% of all patietns included had a cardiac echo done 30% of pts with echo had pulmonary hypertension Right heart catheter was done in <10% of the patients MG
19 Summary (2) Pulmonary disease severity was linked via Fan scoring to PA Diffuse and alveolar developmental disorders had a very high frequency of PA Infant conditions of undefined etiology had PA in 20% Alveolar surfactant region disorders had PA in 30% MG
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