Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome.

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome.

Several Long-Evans rat substrains carrying the phenotype of oculocutaneous albinism and bleeding diathesis are a rat model of Hermansky-Pudlak syndrome (HPS). The mutation responsible for the phenotype (Ruby) was identified as a point mutation in the initiation codon of Rab38 small GTPase that regulates intracellular vesicle transport. As patients with HPS often develop life-limiting interstiti...

A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness whic...

Exogenous gene transfer of Rab38 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats

BACKGROUND Rab38 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab38 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant l...

Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.

A 45-year-old woman from Puerto Rico presented to the emergency department with progressively worsening dyspnea over a 3to 4-day period. She had been diagnosed with type 1 Hermansky-Pudlak syndrome complicated by pulmonary fi brosis 4 years earlier. Previous renal biopsy demonstrated nephrosclerosis secondary to HermanskyPudlak syndrome. A brother also had Hermansky-Pudlak syndrome complicated ...