Ngaba amehlo akho abomvu nakwezona zinto zincinci? Okanye uziva udiniwe nokuba ulele kangakanani na? Ngaba ulwa nezinto ezifana neentlungu zamathambo kunye nesisu esidumbileyo? Kusenokuba kukho isifo esingasemva kwezi zinto esingazivanga kangako ngazo, kodwa kubaluleke kakhulu ukusazi. Namhlanje sithetha ngesifo esingaqhelekanga kodwa esinyangekayo. Esi sisifo seGaucher .
Ngamafutshane, yintoni isifo seGaucher?
Isifo seGaucher sisifo esingaqhelekanga esibangelwa lufuzo. Ngokuchanekileyo, sikwiqela lezifo ezibizwa ngokuba yi -lysosomal storage disorders (LSD) . Kulungile, eli gama livakala linzima kancinci, akunjalo? Ungakhathazeki, ndiza kulichaza ngokulula.
Khawuthelekelele ukuba ngaphakathi kweeseli zomzimba wethu kukho 'iingqayi zenkunkuma' ezincinci ezibizwa ngokuba yi-lysosomes. Umsebenzi wazo kukuqhekeza nokucoca izinto ezingafunekiyo, ezinje ngamafutha, eziqokelelana ngaphakathi kweeseli. Kwisifo seGaucher, umzimba awuvelisi i-enzyme eqhekeza uhlobo oluthile lwamafutha olubizwa ngokuba yi-sphingolipids . Emva koko loo mafutha angafunekiyo aqala ukuqokelelana kwiindawo ezifana nomongo wethu wethambo, isibindi, kunye ne-spleen.
Xa amafutha eqokelelana ngale ndlela, amathambo ethu aba buthathaka, kwaye amalungu anjengesibindi kunye ne-spleen ayadumba kwaye akhule. La malungu awasakwazi ukwenza imisebenzi yawo ngokufanelekileyo. Nangona isifo seGaucher singenakunyangwa ngokupheleleyo, kukho unyango olunokunceda ukulawula iimpawu kwaye lukuvumele ukuba uphile ubomi obusemgangathweni.
Kukho iintlobo ezintathu eziphambili zesifo seGaucher:
Isifo iGaucher asifani sonke. Sichonge iintlobo ezintathu eziphambili zaso. Zonke iintlobo ezintathu zichaphazela amathambo kunye namalungu omzimba. Kodwa ezinye iintlobo zichaphazela nengqondo. Makhe sijonge ukuba zeziphi ezi ntlobo.
| Uhlobo lwesifo | Isiphumo kunye neempawu | Amanqaku abalulekileyo |
|---|---|---|
| Uhlobo lweGaucher 1 (Uhlobo 1) | Olu lolona hlobo luxhaphakileyo. Luchaphazela ipleen, isibindi, igazi, kunye namathambo. Aluchaphazeli ingqondo okanye inkqubo yemithambo-luvo. Abanye abantu baneempawu ezincinci kakhulu. Abanye banokufumana ukudinwa okukhulu, iintlungu zamathambo, kunye nentlungu yesisu. | Iimpawu zingabonakala nakweyiphi na iminyaka, ukususela ebuntwaneni ukuya ekwaluphaleni. Unyango lunokulawulwa kakuhle. |
| Uhlobo lwe-Gaucher 2 (Uhlobo lwe-2) | Olu hlobo lungaqhelekanga kwaye lunzima kakhulu. Luvela kwiintsana ezingaphantsi kweenyanga ezi-6 ubudala. Lubangela ukwanda kwepleen, ubunzima bokuhamba, kunye nomonakalo omkhulu engqondweni . | Okwangoku akukho nyango lwale meko. Iintsana ezinale meko zihlala zifa kwisithuba seminyaka emibini ukuya kwemithathu. |
| Uhlobo lwe-Gaucher 3 (Uhlobo lwe-3) | Nangona ixhaphakile kwihlabathi liphela, ayiqhelekanga kumazwe afana neSri Lanka. Iimpawu zibonakala ngaphambi kokuba zifikelele kwiminyaka eli-10 ubudala. Ichaphazela amathambo kunye nezitho zomzimba, kunye nengqondo (inkqubo yemithambo-luvo). | Unyango lunokunceda abantu abaninzi baphile bade bafikelele kwiminyaka yabo yama-20 okanye yama-30. |
Kutheni isifo seGaucher senzeka?
Isifo iGaucher sisifo esibangelwa kukufa komzimba . Oku kuthetha ukuba siyinto esiyifumana ngemizila yemfuza evela kubazali bethu.
Umzimba wethu unejini ebizwa ngokuba yi-GBA gene . Umsebenzi wale jini kukufundisa umzimba ukuba wenze i-enzyme ebizwa ngokuba yi -glucocerebrosidase (GCase) . Ngenxa yotshintsho kwijini ye-GBA, umntu onesifo seGaucher akavelisi ngokwaneleyo le enzyme ye-GCase.
Ngamafutshane, esi sifo sibangelwa kukungabikho komsebenzi (i-enzyme ye-GCase) ecoca amafutha omzimba. Ngaphandle kwesi sixhobo, amafutha angafunekiyo (iiseli zeGaucher) ayaqokelelana emzimbeni aze abangele iingxaki.
Oku kuqokelelana kwamafutha kuchaphazela ukusebenza kwamalungu omzimba, kutshabalalisa iiseli zegazi, kwaye kunciphisa amathambo.
Zithini iimpawu zesifo seGaucher?
Iimpawu zesifo seGaucher zingahluka kumntu nomntu. Abanye abantu baneempawu ezincinci kakhulu, ngelixa abanye banokuba neengxaki zempilo ezinzulu. Masizihlukanise ezi mpawu zibe ziindidi ezahlukeneyo.
Iziphumo kwizitho zangaphakathi nasegazini
Xa iikhemikhali ezinamafutha ziqokelelana emzimbeni, zinokuba nemiphumo eyahlukeneyo egazini nakwizitho zomzimba.
- I-anemia:Xa amafutha eqokelelana kumongo wethambo, iiseli ezibomvu zegazi ezithwala ioksijini ziyatshatyalaliswa. I-anemia ibangelwa kukungabikho kweeseli ezibomvu zegazi.
- Izitho zomzimba ezikhulisiweyo: I-spleen kunye nesibindi ziyadumba kwaye zikhule njengoko amafutha eqokelelana ngaphakathi kuzo. Oku kunokubangela ukuba isisu sidumbe phambili kwaye kubangele iintlungu. Njengoko i-spleen ikhula, itshabalalisa iiplatelets, ezinceda ukujiya kwegazi.
- Ukugruzuka nokopha: Ngenxa yokubala iiplatelets kuncinci, umzimba uyagruzuka lula (kubonakala amabala egazi). Igazi alijiki kakuhle. Ukopha impumlo kunye nokopha okungapheliyo okuvela kwinxeba elincinci kunokwenzeka.
- Ukudinwa: I-anemia ikwenza uzive udiniwe kwaye udiniwe ngalo lonke ixesha.
- Iingxaki zemiphunga: Amafutha anokuqokelelana emiphungeni aze abangele ubunzima bokuphefumla.
Iziphumo emathanjeni
Xa amathambo engafumani igazi elaneleyo, ioksijini, kunye nezondlo, aba buthathaka kwaye aphuke lula.
- Intlungu: Intlungu ebuhlungu inokubakho ngenxa yokuncipha kokuhamba kwegazi emathanjeni. Intlungu yamalungu kunye ne-arthritis ziimeko eziqhelekileyo.
- I-Osteonecrosis: Ikwabizwa ngokuba yi-avascular necrosis , oku kukufa kwezicubu zethambo ngenxa yokunqongophala kweoksijini emathanjeni.
- Amathambo aphuka lula: Isifo seGaucher sinokubangela imeko ebizwa ngokuba yi -osteoporosis (i-calcium ephantsi emathanjeni, ukuncitshiswa kwamathambo). Oku kunokubangela ukuba amathambo aphuke nokuba kukho ingozi encinci.
Iziphumo engqondweni (iintlobo 2 kunye no-3 kuphela)
Ukongeza kwezinye iimpawu, iintlobo zesi-2 kunye nesi-3 zesifo seGaucher nazo zichaphazela ingqondo.
- Uhlobo lwesi-2: Iimpawu ziyavela kwiinyanga ezi-6 zokuqala zobomi. Usenokubona izinto ezifana nobunzima bokuncancisa kunye nokukhula okulibazisekileyo.
- Uhlobo lwesi-3: Iimpawu zibonakala ngaphambi kokuba zifikelele kwiminyaka eli-10. Ziba nzima ngakumbi ngokuhamba kwexesha.
- Iimpawu eziqhelekileyo ze-neurological:
- Ubunzima bokuhambisa amehlo ukusuka kwelinye icala ukuya kwelinye
- Iingxaki zokuhamba kunye nokulinganisela
- Ukuxhuzula kunye nokuxhuzula kwemisipha
Isifo seGaucher sifunyanwa njani?
Ukuba wena okanye umntwana wakho unezinye zezi mpawu, kufuneka nibone ugqirha wenu nize nibaxelele ngazo. Ugqirha uza kunihlola aze anibuze ngeempawu zenu.
Kukho iindlela ezimbini eziphambili zokuqinisekisa ukuba kukho isifo seGaucher:
1. Uvavanyo lwegazi: Oku kulinganisa inqanaba le-enzyme ye-GCase esithethe ngayo egazini.
2. Uvavanyo lwe-DNA: Olu vavanyo, olwenziwe kwisampuli yamathe okanye egazini, lunokubona ngokuthe ngqo ubukho botshintsho lwe-GBA gene olubangela isifo seGaucher.
Into ebalulekileyo kukuba abanye abantu banesi sifo.Kunokwenzeka. Oko kukuthi, abanazo iimpawu, kodwa abantwana babo basengozini yokufumana esi sifo. Ukuba kukho umntu kusapho lwakho onesi sifo, kwaye uceba ukuba nabantwana, kubaluleke kakhulu ukufumana ingcebiso ngemfuza.
Ngaba kukho unyango lwesifo seGaucher?
Ewe! Kukho unyango olusebenzayo kakhulu, ingakumbi kuhlobo 1 lweGaucher. Nangona kunjalo, akukho nyango lomonakalo wengqondo obangelwa ziintlobo 2 kunye no-3.
Kukho iindlela ezimbini eziphambili zonyango.
| Indlela yonyango | Kwenzekani? | Indlela yokunika |
|---|---|---|
| Unyango Lokutshintshwa Kwe-Enzyme (ERT) | Ukunqongophala emzimbeni kufuna unikezelo lwangaphandle lwe-enzyme ye-GCase. Le enzyme ihamba ngegazi iye kwizitho zomzimba nasemathanjeni ize iphule amafutha aqokelelweyo. | Idla ngokufakwa ngemithambo yegazi, njenge-saline, kanye kwiiveki ezimbini. |
| Unyango Lokunciphisa I-Substrate (SRT) | Oku kukunciphisa ukuveliswa kwamafutha anengxaki emzimbeni. Oko kukuthi, kunciphisa ubungakanani 'benkunkuma' eqokelelanayo. | Inikwa njengeyeza elithathwa imihla ngemihla. |
Olu nyango kufuneka luthathwe ubomi bonke. Ukuba lunyangwa ngokufanelekileyo, umntu onohlobo lokuqala angaphila ubomi obuqhelekileyo nobupheleleyo.
Ndifanele ndimbone nini ugqirha?
Ukuba wena okanye umntwana wakho unezinye zeempawu ezikhankanyiweyo kweli nqaku, bonana nogqirha wosapho lwakho ngokukhawuleza.
- Ukuba unembali yosapho , oko kuthetha ukuba ukuba isalamane sakho sinesifo seGaucher, kubalulekile ukuba uhlolwe.
- Ukuba ufunyaniswe unesifo seGaucher, yazisa abantakwenu , kuba nabo basenokuba banaso esi sifo okanye bangabathwali baso.
- Ukuba ukhulelwe abantwana kwaye uziva ngathi usengozini, funa ingcebiso ngemfuza .
Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufunda ngesifo esingaqhelekanga njengesifo seGaucher. Kodwa khumbula, unyango olufumanekayo namhlanje lusebenza kakhulu. Eyona nto ibalulekileyo kukufumana uxilongo oluchanekileyo, ukusebenzisana nengcali, kunye nokulandela isicwangciso sonyango esihambelanayo. Ngaleyo ndlela, unokulawula iimpawu zakho, uthintele umonakalo wexesha elide, kwaye uhlale usempilweni.
Umyalezo Wokuya Ekhaya
- Isifo seGaucher sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana. Sibangelwa kukungabikho kwe-enzyme emzimbeni.
- Kukho iintlobo ezintathu eziphambili, kwaye kukho unyango olusebenzayo lohlobo loku-1, oluyeyona ixhaphakileyo.
- Ukudumba rhoqo, ukudinwa kakhulu, iintlungu zamathambo, kunye nokukhula kwesisu kunokuba zezona mpawu ziphambili.
- Esi sifo sinokuchongwa ngokuchanekileyo ngovavanyo lwegazi okanye uvavanyo lwe-DNA.
- Ukuba wena okanye umntu osapho lwakho uneempawu, thetha nogqirha wakho ngokukhawuleza. Okukhona unyango luqala ngokukhawuleza, kokukhona iziphumo ziba ngcono.
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