Isifo se-Gaucher sisifo esingaqhelekanga esiyifumanayo, esikhokelela ekuhlanganiseni kwizitho ezithile (ngokuyinhloko kwisibindi, i-spleen kunye nethambo lomnkantso) weefomiti ezithile. Ngesihlandlo sokuqala esi sifo sachongwa kwaye sachazwa ngudokotela waseFransi uFilipu Gaucher ngowe-1882. Wafumanisa iiseli ezithile kwizigulane ezineentlanzi ezandisiweyo, apho kungabikho amafutha angafumani. Emva koko, iiseli zaqala ukubizwa ngokuba yi-Gaucher cells, kunye nesifo, ngokulandelanayo, izifo ze-Gaucher.
Izifo zokugcina izilwanyana
Izifo ze-Lysosomal (izifo zokuqokelela i-lipids) ligama eliqhelekileyo ngezifo ezinobomi ezidibeneyo nokuphazanyiswa kwe-intracellular cleavage yezinto ezithile. Ngenxa yeziphene kunye nokusilela kwee-enzyme ezithile, iintlobo ezithile zeepidids (umzekelo, i-glycogen, i-glycosaminoglycans) azihluli kwaye azigcini emzimbeni, kodwa ziqokelelwa kwiiseli.
Izifo zeLysosomal aziqabile. Ngoko ke, eyona nto ixhaphakileyo kuyo yonke into - isifo se-Gaucher, senziwa nge-frequency frequency ye-1: 40000. Ubume bunikwa ngokuqhelekileyo ngenxa yokuba isifo sinalo ngokwemiqathango ye-autosomal uhlobo oluqhelanisiweyo kunye nakwezinye iintlanga ezivaliweyo.
Ulwahlulo lwezifo zeGaucher
Esi sifo kubangelwa isiphako kwi-gene ejongene nokuqulunqwa kwe-beta-glucocerebrosidase, i-enzyme ekhuthaza ukucoca kwamanye amafutha (glucocerebrosides). Kubantu abanesi sifo, i-enzyme eyimfuneko ayanele, kuba amafutha ahluli, kodwa aqokelelwa kwiiseli.
Kukho iintlobo ezintathu zesifo se-Gaucher:
- Uhlobo lo kuqala. Ifom yeyona ndlela ilula kunye neyoloko ivela. Eyayifumene ngokunyuka okungenalubuhlungu kwipeni, ukwanda okwenyuka kwesibindi. Inkqubo yesiseko senzwa ayichaphazelekayo.
- Uhlobo lwesibini. Ifomu ekhoyo ngokuqhelekileyo ngomonakalo omkhulu we-neuronal. Ibonakalisa ngokuqhelekileyo kusebuntwaneni kwaye isoloko ibangela ukufa.
- Udidi lwesithathu. Ifom yokuhlukumeza abantwana. Ufunyenwe rhoqo kwi-2 ukuya kweyimi-4 ubudala. Kukho izilonda ze-hematopoietic system (i-bone marrow) kunye nesilonda esingafaniyo se-system ye-nervous.
Iimpawu zeeGaucher Disease
Xa eso sifo, iiseli ze-Gaucher ziqokelela kancane kwizitho. Okokuqala kukho ukwanda okwenyukayo kwipeni, ngoko isibindi, kukho iintlungu emathanjeni. Ngokuhamba kwexesha, ukuphuhliswa kwe- anemia , thrombocytopenia, ukuphuma ngegazi ngokukhawuleza kunokwenzeka. Kuhlobo lwe-2 no-3 lwesifo, ingqondo kunye nenkqubo ye-nervous iphela ichaphazelekayo. Kuhlobo lwe-3, esinye sezibonakaliso eziphawulekayo zomonakalo kwinkqubo ye-nervous is a violation of eye movements.
Ukuxilongwa kwezifo zeGaucher's
Isifo se-Gaucher sinokufunyanwa nguhlalutyo lwe-molecular of glucocerebrosidase gene. Nangona kunjalo, le ndlela yinkimbinkimbi kakhulu kwaye ibiza kakhulu, ngoko ichithwa kwiimeko ezinqabileyo, xa ukuxilongwa kwesi sifo kunzima. Ngokuqhelekileyo, ukuxilongwa kwenzelwa xa iiseli ze-Gaucher zifunyenwe ngethambo lomnxeba okanye ipenti ephakamileyo ngexesha le-biopsy. Iingcamango zamathambo zingasetyenziselwa ukuchonga iziphazamiso ezibonakalayo ezinxulumene nomonakalo womnatha wethambo.
Unyango lwe-Gaucher Disease
Kuza kube yimhla, indlela kuphela efanelekileyo yokunyanga kwesi sifo - indlela yokwelapha endaweni ye-gluclusease, isicatshulwa esenza i-enzyme ekhoyo emzimbeni. Inceda ekunciphiseni okanye ekunciphiseni imiphumo yomonakalo womzimba, ubuyisele imetabolism evamile. Ukuhambisa izidakamizwa
Ukutshintshwa kwethambo lomnkantso okanye iiseli ezinamabala kubhekiselele kwiyeza elinobuchule elinomlinganiselo wokufa okuphezulu kwaye lisetyenziswe njengethuba lokugqibela ukuba nayiphina indlela yokwelapha ayikwazi.