Hermansky-Pudlak syndrome
Sánchez-Guiu, I.; Torregrosa, J.-M.; Velasco, F.; Antón, A.-I.; Lozano, M.-L.; Vicente, V.; Rivera, J. · Zeitschrift für Orthopädie und Unfallchirurgie · 2014 · Heft 04 · S. 301 bis 309
Bibliografische Angaben
Zusammenfassung
SummaryHermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculo- cutaneous hypopigmentation, bleeding diathesis and granulomatous colitis or pulmonary fibrosis. To date, there is no curative treatment and the clinical management depends on the severity of symptoms. A prompt diagnosis of HPS patients could improve their quality of life and clinical management. However, the absence of a specific platelet function test, the wide molecular heterogeneity, and the lack of phenotypegenotype correlations hampe…
