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Hermansky-Pudlakov sindrom in granulomatozno vnetje črevesa – pregledni prispevek in prikaz primera = Hermansky-Pudlak syndrome and granulomatous bowel inflammation – review article and case reportBerden, Urška, dr. med. ; Kitanovski, Lidija ; Urlep Žužej, DarjaHermansky-Pudlakov sindrom (HPS) je zelo redka genetsko in fenotipsko heterogena večsistemska bolezen, ki nastane zaradi motnje v delovanju lizosomu podobnih znotrajceličnih organelov. Poznamo enajst ... genetskih različic HPS. Za vse različice sta značilna okulokutani albinizem in hemoragična diateza zaradi disfunkcije trombocitov. Značilno je tudi kopičenje ceroida lipofuscina v retikuloendotelnem sistemu različnih organov. Pri določenih različicah HPS, najpogosteje pri HPS-1 in HPS-4, se lahko razvije granulomatozno vnetje prebavne cevi, ki je podobno Crohnovi bolezni. V prispevku predstavljamo edini primer bolnice v Sloveniji z diagnosticiranim Hermansky-Pudlakovim sindromom 1 (HPS-1) ter pridruženim granulomatoznim vnetjem tankega in debelega črevesa, ki ima klinične, endoskopske in patohistološke značilnosti Crohnove bolezni.Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 29, št. 3, 2022, str. 149-153)Type of material - article, component part ; adult, seriousPublish date - 2022Language - slovenianCOBISS.SI-ID - 160892675
source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 29, št. 3, 2022, str. 149-153)
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Database name | Field | Year |
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Berden, Urška, dr. med. | |
Kitanovski, Lidija | 19257 |
Urlep Žužej, Darja | 23192 |
Source: Personal bibliographies
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