Isifo se-Gaucher yisifo esiyingqayizivele esiyingqayizivele, okuholela ekubutheni kwezinye izitho ezithile (ngokuyinhloko esibindi, isibungu kanye nomnkantsha wamathambo) wama-deposit ethize. Isikhathi sokuqala lesi sifo sabonakala futhi sichazwa udokotela waseFrance uPhilip Gaucher ngo-1882. Wathola amangqamuzana athile ezigulini ezine-pleen ekhulisiwe, lapho amafutha angaziwa khona. Kamuva, lawo maseli aqala ukubizwa ngokuthi ama-Gaucher cells, futhi lesi sifo, ngokulandelana, isifo se-Gaucher.
Izifo zokugcina izilonda
Izifo ezingenayo i-lysosomal (izifo zokuqoqa lipids) yigama elivamile lezifo eziningi eziphilayo ezihambisana nokuphazanyiswa kwe-intracellular cleavage yezinto ezithile. Ngenxa yokungaziphathi kahle nokuntuleka kwamakhemikhali athile, izinhlobo ezithile ze-lipids (isibonelo, i-glycogen, i-glycosaminoglycans) azihlukanisi futhi azigcini emzimbeni, kodwa zibuthelwa kumaseli.
Izifo ze-lysosomal azivamile. Ngakho-ke, ejwayelekile kunazo zonke - isifo se-Gaucher, senziwa ngesilinganiso semvamisa ye-1: 40000. Imvamisa inikezwa ngokwesilinganiso ngoba lesi sifo sinesifayela ngokwezinga lokuziqhenya ngokweqile futhi kwezinye izinhlanga ezivaliwe zingase zivele izikhathi ezingaphezu kuka-30 kaningi.
Ukuhlukaniswa kwezifo ze-Gaucher
Lesi sifo sibangelwa isici esakhiweni esithinta ukuhlanganiswa kwe-beta-glucocerebrosidase, i-enzyme evuselela ukuhlanza kwamafutha athile (glucocerebrosides). Kubantu abanalesi sifo, i-enzyme edingekayo ayanele, ngoba amafutha awahlukanisi, kodwa ahlangane kumaseli.
Kunezinhlobo ezintathu zezifo ze-Gaucher:
- Uhlobo lokuqala. Ifomu eliphansi kunazo zonke futhi elivela njalo. Ekhishwa ukunyuka okungenakuphuza kwesiteji, ukwanda okuncane kwesibindi. Isistimu enkulu yezinzwa ayithintekile.
- Uhlobo lwesibili. Ifomu elivela njalo ngenomonakalo omkhulu we-neuronal. Kuzibonakalisa ngokuvamile ezinsana ezisencane futhi ngokuvamile kuvame ukuholela ekufeni.
- Uhlobo lwesithathu. Ifomu le-juvenile subacute. Ijwayele ukutholakala ngokuvamile eneminyaka engu-2 ukuya kwengu-4. Kunezilonda zesimiso se-hematopoietic (i-bone lomnkantsha) kanye nesilonda esingenalutho se-system yezinzwa.
Izimpawu Zesifo Sezinkukhu
Lapho lesi sifo, amaseli e-Gaucher aqoqa kancane kancane ezithombeni. Okokuqala kukhona ukwanda okungenakuqhathaniswa esitezini, bese isibindi, kunezinhlungu emathanjeni. Ngokuhamba kwesikhathi, ukuthuthukiswa kwe- anemia , thrombocytopenia, ukuphuma kwegazi ngokuzenzekelayo kungenzeka. Uhlobo lwe-2 no-3 lwesifo, ubuchopho kanye nesistimu yezinzwa njengento yonke iyathinteka. Ngohlobo lwe-3, esinye sezibonakaliso eziphawuleka kakhulu zomonakalo ohlelweni lwezinzwa kungukuphulwa kokunyakaza kwamehlo.
Ukuxilongwa kwezifo ze-Gaucher
Isifo se-Gaucher singatholwa ukuhlaziywa kwamangqamuzana weglucocerebrosidase gene. Kodwa-ke, le ndlela yinkimbinkimbi kakhulu futhi iyabiza kakhulu, ngakho-ke isetshenziselwa izimo ezingavamile, lapho kutholakala kunzima ukuxilongwa kwesifo. Ngokuvamile, ukuxilongwa kuyenziwa lapho amangqamuzana e-Gaucher etholakala ematheni okwephulwa noma ubhedu obukhulu ngesikhathi se-biopsy. Imifanekiso yamathambo ingasetshenziselwa ukukhomba ukuphazamiseka kwezici ezihlobene nomonakalo wamarrow.
Ukwelashwa kwezifo ze-Gaucher
Kuze kube manje, indlela kuphela ephumelelayo yokwelapha lesi sifo - indlela yokwelapha okufaka indawo nge-gluccerase, isidakamizwa esithatha indawo ye-enzyme elahlekile emzimbeni. Kusiza ukunciphisa noma ukunciphisa imiphumela yomonakalo womzimba, ubuyisele imetabolism evamile. Ukuhambisa izidakamizwa
Ukutshala izihlahla zamathambo noma ama-cell stem kubhekisela ekwelashweni okunamandla kakhulu ngokulingana nokufa kwabantu futhi kusetshenziselwa kuphela ithuba lokugcina uma ezinye izindlela zokwelapha zingasebenzi.