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2016 ; 37
(3
): 505-11
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Hermansky-Pudlak Syndrome
#MMPMID27514596
El-Chemaly S
; Young LR
Clin Chest Med
2016[Sep]; 37
(3
): 505-11
PMID27514596
show ga
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is
associated with oculocutaneous albinism, bleeding diatheses, granulomatous
colitis, and highly penetrant pulmonary fibrosis in some subtypes, including
HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical,
radiologic, and histologic features found in idiopathic pulmonary fibrosis, but
occurs at a younger age. Despite knowledge of the underlying genetic defects,
there are currently no definitive therapeutic or preventive approaches for HPS
pulmonary fibrosis other than lung transplant.