the labyrinth of neonatal and pediatric ild griese.pdf · 2017. 11. 2. · a3- infant conditions of...

Hauner Children´s Hospital



Matthias Griese München

The labyrinth of neonatal and pediatric ILD



chILD-EU Register and biobank



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


Prevalence of pulmonary hypertension


The labyrinth



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



(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


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


A1 - Diffuse developmental disorders


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


A2- Growth abnormalities deficient alveolarisation


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


Persistent Tachypnea of Infancy (PTI)

Rauch et al, AJRCM 2015



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


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


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


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%

the labyrinth of neonatal and pediatric ild griese.pdf · 2017. 11. 2. · a3- infant conditions of...

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