Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

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Overview

Primary interstitial lung disease specific to childhood due to alveolar vascular disorder is a rare group of childhood interstitial lung diseases (chILD) characterized by abnormalities in the pulmonary alveolar vasculature that lead to impaired gas exchange and respiratory compromise. These disorders affect the small blood vessels within the alveoli of the lungs, disrupting normal oxygen and carbon dioxide exchange. The alveolar vascular abnormalities may include conditions such as alveolar capillary dysplasia (with or without misalignment of pulmonary veins), pulmonary hypertensive vasculopathy, and other developmental anomalies of the alveolar microvasculature. Clinical features typically present in the neonatal or infantile period and may include persistent hypoxemia (low blood oxygen levels), tachypnea (rapid breathing), respiratory distress, cyanosis, and signs of pulmonary hypertension. In severe forms such as alveolar capillary dysplasia, the condition can be rapidly fatal in the neonatal period despite aggressive medical intervention. Affected infants may fail to respond to conventional respiratory support including supplemental oxygen, mechanical ventilation, and inhaled nitric oxide. Treatment options are limited and largely supportive, focusing on optimizing oxygenation and managing pulmonary hypertension. Therapies may include supplemental oxygen, mechanical ventilation, pulmonary vasodilators, and extracorporeal membrane oxygenation (ECMO) as a bridge therapy. In some cases, lung transplantation may be considered, though outcomes vary. The prognosis depends heavily on the specific underlying vascular abnormality and its severity. Given the rarity and heterogeneity of these conditions, management is best guided by multidisciplinary teams at specialized pediatric pulmonary centers.

Also known as:

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Jun 1996

Albenza: FDA approved

Treatment of cystic hydatid disease of the liver, lung, and peritoneum, caused by the larval form of the dog tapeworm, Echinococcus granulosus.

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Primary interstitial lung disease specific to childhood due to alveolar vascular disorder.

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No specialists are currently listed for Primary interstitial lung disease specific to childhood due to alveolar vascular disorder.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

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Common questions about Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

What is Primary interstitial lung disease specific to childhood due to alveolar vascular disorder?

Primary interstitial lung disease specific to childhood due to alveolar vascular disorder is a rare group of childhood interstitial lung diseases (chILD) characterized by abnormalities in the pulmonary alveolar vasculature that lead to impaired gas exchange and respiratory compromise. These disorders affect the small blood vessels within the alveoli of the lungs, disrupting normal oxygen and carbon dioxide exchange. The alveolar vascular abnormalities may include conditions such as alveolar capillary dysplasia (with or without misalignment of pulmonary veins), pulmonary hypertensive vasculopat

At what age does Primary interstitial lung disease specific to childhood due to alveolar vascular disorder typically begin?

Typical onset of Primary interstitial lung disease specific to childhood due to alveolar vascular disorder is neonatal. Age of onset can vary across affected individuals.