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Hauner Children´s Hospital
Hauner Children´s Hospital
Hauner Children´s Hospital
Matthias Griese München
The labyrinth of neonatal and pediatric ILD
Hauner Children´s Hospital
Hauner Children´s Hospital
chILD-EU Register and biobank
Hauner Children´s Hospital
Hauner Children´s Hospital
chILD-EU Register and biobank
4-2014 until 7-2017
439 cases entered
378 peer-reviewed and
diagnosed into the chILD categories
A1 to A4, and
B1 to B5
Hauner Children´s Hospital
Prevalence of pulmonary hypertension
Hauner Children´s Hospital
The labyrinth
Hauner Children´s Hospital
Hauner Children´s Hospital
Classification
A – characteristic for infants
A1
Diffuse
developmental
disorders
A3
Infant chronic tachypnoe and
firm morphology
A4
Surfactant
dysfunction disorders
A2
Growth abnormalities reflecting deficient
alveolarisation
Primary manifestation of the lung disease:
2.5 y old
Hauner Children´s Hospital
Hauner Children´s Hospital
(1) Related to systemic disease
processes
(2) Exposition
and immune-
intact
(3) Immuno-
compromised host or
transplanted
(4) Related to
lung vessels
structural processes
(5) Related to reactive
lymphoid lesions
B – all age groups
Hauner Children´s Hospital
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
Hauner Children´s Hospital
A1 - Diffuse developmental disorders
Hauner Children´s Hospital
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
Hauner Children´s Hospital
A2- Growth abnormalities deficient alveolarisation
Hauner Children´s Hospital
Persistent Tachypnea of Infancy (PTI)
Rauch et al, AJRCM 2015
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%
A3- Infant conditions of undefined etiology
Hauner Children´s Hospital
Persistent Tachypnea of Infancy (PTI)
Rauch et al, AJRCM 2015
Hauner Children´s Hospital
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
Hauner Children´s Hospital
A3- Infant conditions of undefined etiology
Hauner Children´s Hospital
A4- Alveolar surfactant region
2.5 y old
A4 - DPLD related to the alveolar surfactant region Number of patients
Genetic diagnosis
ABCA3 mutations 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
Hauner Children´s Hospital
A4- Alveolar surfactant region
Hauner Children´s Hospital MG
Summary (1)
• chILD represent a large group of diffuse parenchymal lung diseases / interstitial lung diseases (ILD)
• 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
• Putting into categories is important
Hauner Children´s Hospital
MG
Summary (2)
• Diffuse and alveolar developmental disorders had a very high frequency of PA
• Alveolar surfactant region disorders had PA in 30%
• Pulmonary disease severity was linked via Fan scoring to PA
• Infant conditions of undefined etiology had PA in 20%