Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.

ABSTRACT:

Background

Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin. HMOX1-deficiency is a rare autosomal recessive disorder with hallmark features of direct antibody negative hemolytic anemia with normal bilirubin, hyperinflammation and features similar to macrophage activation syndrome. Clinical findings have included asplenia, nephritis, hepatitis, and vasculitis. Pulmonary features and evaluation of the immune response have been limited.

Case presentation

We present a young boy who presented with chronic respiratory failure due to nonspecific interstitial pneumonia following a chronic history of infection-triggered recurrent hyperinflammatory flares. Episodes i

SUBMITTER: Chau AS 

PROVIDER: S-EPMC7565350 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature