Zespół Hermanskiego-Pudlaka

Zespół Hermanskiego i Pudlaka (ang. Hermansky-Pudlak syndrome, HPS, albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, delta storage pool disease) – rzadki, genetycznie uwarunkowany zespół, objawiający się klinicznie wydłużeniem czasu krwawienia i albinizmem oczno-skórnym[1]. Dziedziczenie choroby jest autosomalne recesywne. W płytkach krwi stwierdza się brak ziarnistości δ. Chorobę opisali czescy interniści František Heřmanský i Pavel Pudlák w 1959 roku[2]. Poznano przynajmniej osiem loci genowych, których mutacje objawiają się klinicznie jako zespół Heřmanskiego i Pudláka.

Przypisy

  1. Podstawy hematologii. Anna Dmoszyńska, Tadeusz Robak. Lublin: Wydawnictwo Czelej, 2003, s. 32. ISBN 83-88063-94-4.
  2. Heřmansky F, Pudlák P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. „Blood”. 14, s. 162–169, 1959. PMID: 13618373. 

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