Article
Hermansky-Pudlak Syndrome.
Seminars in respiratory and critical care medicine - 1 Apr 2020
De Jesus Rojas Wilfredo, Young Lisa R
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though...
Topics
- Disease Progression
- Hermanski-Pudlak Syndrome
- Humans
- Mutation
- Puerto Rico
- Pulmonary Fibrosis