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A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

2000; Elsevier BV; Volume: 108; Issue: 5 Linguagem: Inglês

10.1016/s0002-9343(99)00436-2

1555-7162

Vorasuk Shotelersuk, Esteban C. Dell’Angelica, Lisa M. Hartnell, Juan S. Bonifacino, William A. Gahl,

Olfactory and Sensory Function Studies

Hermansky-Pudlak syndrome is a recessive type of oculocutaneous albinism that is prevalent in northwest Puerto Rico due to a founder effect ( 1 Hermansky F Pudlak P Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow report of two cases with histochemical studies. Blood. 1959; 14: 162-169 Crossref PubMed Google Scholar , 2 King R.A Hearing V.J Creel D.J Oetting W.S Albinism. in: Scriver C.R Beaudet A.L Sly W.S Valle D.V The Metabolic and Molecular Bases of Inherited Disease. 7th ed. McGraw-Hill, New York, NY1995: 4353-4392 Google Scholar , 3 Witkop C.J Babcock M.N Rao G.H.R et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P Rico-Agosto. 1990; 82: 333-339 PubMed Google Scholar ). In this syndrome, bleeding and bruising occur because of the absence of platelet dense bodies, which normally release serotonin, calcium, and adenosine diphosphate to trigger a secondary aggregation response ( 4 Witkop C.J Krumwiede M Sedano H White J.G Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hemat. 1987; 26: 305-311 Crossref PubMed Scopus (155) Google Scholar ). In addition, the accumulation of a lipid-protein complex called ceroid lipofuscin ( 5 White J.G Witkop C.J Gerritsen S.M The Hermansky-Pudlak syndrome inclusions in circulating leucocytes. Br J Hemat. 1973; 24: 761-765 Crossref PubMed Scopus (14) Google Scholar , 6 Sakuma T Monma N Satodate R et al. Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome an ultrastructure study. Patho Int. 1995; 45: 866-870 Crossref PubMed Scopus (9) Google Scholar ) is thought to cause the pulmonary fibrosis ( 7 Harmon K.R Witkop C.J White J.G et al. Pathogenesis of pulmonary fibrosis platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med. 1994; 123: 617-627 PubMed Google Scholar ) and granulomatous colitis ( 8 Schinella R.A Greco M.A Cobert B.L et al. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. 1980; 92: 20-23 Crossref PubMed Scopus (129) Google Scholar ) seen in this disease.