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J Clin Gastroenterol. 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742.

The management of gastrointestinal disease in Hermansky-Pudlak syndrome.

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  • 1†Yale-New Haven Hospital *Yale University School of Medicine, New Haven, CT 06510, USA.

Abstract

Hermansky-Pudlak syndrome (HPS) was first described in 1959 by Hermansky and Pudlak. Clinically, HPS is characterized by oculocutaneous albinism, platelet storage pool deficiency, and ceroid tissue accumulation. It is a rare disorder that has been described globally but has the highest frequency in a cluster population in Puerto Rico. HPS patients also have major organ involvement that typically includes pulmonary fibrosis and granulomatous colitis. Rarely have cardiomyopathy and renal dysfunction been described. We report a case of the oldest historical patient with HPS type 6 and the associated gastrointestinal management.

PMID:
21085008
[PubMed - indexed for MEDLINE]
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