I-Disorder Inherited With Symptoms and Severity
Isifo se-Gaucher yisifo esingokwemvelo lapho uhlobo lwe-fatty substance, olubizwa ngokuthi i-lipid, luqala ukubuthelela emaseli kanye nezitho zomzimba. Lesi sifo sibhekwa yi-anemia, ukulimala okulula, amathambo amathambo, ukuphazamiseka kwezinzwa, kanye nokwandiswa kwesibindi nesipere.
Isifo se-Gaucher sibhekwa njengesifo esiyinkimbinkimbi se- autosomal disorder , okusho ukuthi yisimiso esizuzwe kubazali bomuntu.
Kubangelwa ukuguqulwa kwesimo sofuzo okuthiwa i-GBA okukhona ukuhluka okungafani kwama-380. Kuncike ezinhlotsheni zokuguqulwa kwezinto ezithathwa njengefa, abantu bangakha uhlobo olulodwa lwezinhlobo ezahlukene zesifo.
Kuzo izinhlobo ezintathu ezivame kakhulu (uhlobo 1, uhlobo lwama-2, bese uthayipha u-3), izimpawu zingabuka emnene futhi ziphathwe ngokusongela ukuphila. Isikhathi sokuphila singathinteka, ikakhulukazi kubantu abanezinhlobo ezihlukahlukene zesifo.
Isifo se-Gaucher sithinta omunye wabantu abangu-40 000 abazalwa ku-United States, ngokusho kwezibalo ezivela e-Rockville, e-Maryland-based National Gaucher Foundation. Cishe umuntu ngamunye kulabo abayi-100 ukholelwa ukuthi ungumthwali wokuguqulwa kwe-GBA. Phakathi kwamaJuda ase-Ashkenazi, inani liseduze nenye yezinyanga ezingu-15.
Indlela Isifo Esibangela Ngayo Ukugula
Igazi le-GBA inikeza imiyalelo yokwenza uhlobo lwe-enzyme eyaziwa ngokuthi i-beta-glucocerebrosidase. Lona yi-enzyme ehlose ukwephula uhlobo lwe-lipid eyaziwa ngokuthi i-glucocerebroside.
Kubantu abane-Gaucher, i-beta-glucocerebrosidase ayisekho imisebenzi njengoba kufanele. Ngaphandle kwendlela yokudiliza i-lipids, amazinga aqala ukubuthelwa emangqamuzaneni, abangela ukuvuvukala nokuphazamisa umsebenzi ovamile weselula.
Ukuqoqwa kwe-lipids kumaseli e- macrophage (okubambe iqhaza kuwo wonke umfutho wemfucumfucu) kubangele ukuba bahlakulele ukubukeka "kwephepha elinyathelisiwe" elibizwa ngokuthi i-pathologists ngokuthi "ama-Gaucher cell".
Izici zesifo zingahluka ngezinhlobo zeseli ezihilelekile:
- Ukuqoqwa kwe-lipids emnothweni wesibindi, isibindi, uhlangothi, amaphaphu nezinye izitho kungaholela ekunciphiseni okuphawulekayo kweseli elibomvu nelomhlophe ( pancytopenia ), isibindi sokuvuvukala nesipere, nesifo sesifo samaphaphu.
- Amaseli e-Gaucher eqoqweni emnothweni wezinyosi angaholela ekwenzeni ukukhanya komzimba wesithambo, amathambo amathanga, nesisindo samathambo aphansi (i- osteopenia ).
- Ukuphazanyiswa kokulinganisela kwamaselula ku-ungqimba we-epidermal yesikhumba kungabangela izinguquko ezibonakalayo kumbala wesikhumba nokuthungwa.
- Ukuqoqwa kwe-lipid emiphakathini esemaphakathi neyinkimbinkimbi yezinzwa kungabangela ukulimala ekufakweni kwezingqamuzana zamangqamuzana (myelin) kanye nama-cell cells.
Izinhlobo zezifo ze-Gaucher
Izifo ze-Gaucher zihlukaniswa ngokubanzi zibe yinye yezinhlobo ezintathu. Ngenxa yokuhlukahluka okubanzi kwezinguquko ze-GBA, ubukhulu nesimo sesifo singahluka kakhulu ngaphakathi kohlobo ngalunye. Izinhlobo zichazwa ngokuthi:
- Uhlobo lwe-Gaucher type 1 (olubizwa nangokuthi isifo se-Gaucher's non-neuropathic) luhlobo oluvame kakhulu, lubalwa ngamaphesenti angu-95 azo zonke izimo. Izimpawu zivame ukuvela ebuntwaneni abasha futhi ikakhulukazi zithinta isibindi, isitha, nethambo. Ubuchopho nesistimu yezinzwa ayithinteki ngokucacile.
- Isifo se-Gaucher type 2 (esaziwa nangokuthi isifo sofuba esincane se-neuropathic ne-Gaucher) sithinta enye yezingane eziyi-100,000 ezinezimpawu ngokuvamile eziqala ezinyangeni eziyisithupha zokuzalwa. Ithinta izinhlelo eziningi zomzimba, kuhlanganise nesimiso sezinzwa, futhi ngokuvamile ziholela ekufeni ngaphambi kweminyaka emibili. Ngenxa yokuthi abagulayo bancane kakhulu, abahlali isikhathi eside ngokwanele ukuze bathuthukise ukukhubazeka kwamathambo.
- Isifo se-Gaucher type 3 (esaziwa nangokuthi isifo sobuchopho esingapheliyo se-neuropathic Gaucher) senzeke kuzo zonke izingane zokuzalwa ezingu-100 000 futhi singaqala noma nini kusukela ebuntwaneni kuya ekubeni umuntu omdala. Kubhekwa njengendlela ekhudlwana, ehamba kancane yocingo 2. Abantu abanomhlobo 3 bavame ukuhlala phakathi kwentsha noma ukukhula kwabantu abadala.
Izimpawu
Izimpawu zesifo se-Gaucher zingashintsha kodwa zizohlala zinezinga elithile legazi, ukungena kwesibindi noma isibindi. Phakathi kwezimpawu ezivame kakhulu:
- Ukukhathala ngenxa ye- anemia
- Ukulimala kalula ngenxa yokubalwa kweplatelet ephansi
- Isisu esithintekayo ngenxa yesibindi sokuvuvukala nesipere
- Umbala wesikhumba obomvu ophuzi
- Emile, isikhumba esilula ( ichthyosis )
- Ubuhlungu be-bone, ubuhlungu obuhlangene, amathambo aphukile, kanye nokwehla kwamathambo
Izimpawu ze-neurological zivame ukubonakala ngohlobo lwama-2 futhi zifake izifo ezintathu kodwa zingase zenzeke ngohlobo 1. Zingafaka:
- Thayipha u-1: ukuqonda okungaqondakali nokuzwa iphunga
- Thayipha 2: ukuhlukunyezwa , ukuphahlazeka , i- apnea , nokuphuza kwengqondo
- Uhlobo lwe-3: imisipha ye-muscle, ukuxubana, ukuhlushwa kwengqondo , nokunyakaza kwamehlo okuzibandakanya
Abantu abanezifo ze-Gaucher nabo babonakala benengozi ephakeme ye- myeloma (umdlavuza wamangqamuzana e-plasma emnothweni wamathambo) nesifo sika-Parkinson (esihlobene nokuguqula izakhi ze-GBA).
I-Ristic Genetic
Njengoba kunoma iyiphi i-autosomal disorder, i-Gaucher ivela lapho abazali ababili abangenayo lesi sifo banikeza igalelo eliyinqaba ezinganeni zabo. Abazali bacatshangwa ngokuthi "abathwali" ngoba ngamunye unekhophi ejwayelekile (evamile) yegijethi kanye nekhophi eyodwa (ethintekayo) ye-gene. Kuyinto kuphela lapho umuntu enezici ezimbili ezithinta izidakamizwa ezenziwa yi-Gaucher.
Uma bobabili abazali bengabathwali, ingozi yengane yabo yokuthola i-Gaucher kanje:
- Amaphesenti angama-25 amathuba okuzuza ifulegi ezimbili ezithintekayo (ezithintekile)
- Amaphesenti angu-50 ithuba lomuntu owodwa ophezulu kanye nomunye owodwa (gene carrier)
- Amaphesenti angu-25 amathuba okuthola ama-geni amabili aphezulu (angahlosiwe)
I-Genetics ingachaza ngokwengeziwe ingozi yomuntu yokuba nengane ene-Gaucher. Lokhu kuyiqiniso ikakhulukazi kuma-Ashkenazi amaJuda anengozi ye-Gaucher ingaphezu kwezikhathi eziyikhulu kunabantu abaningi.
Ukukhathazeka okuzenzakalelayo kuncike ngokuyinhloko ngokuthi okuthiwa "abantu abasunguli" lapho isifo esasizuza njengefa singasetshenziswa emuva kookhokho ovamile. Ngenxa yokungabi nhlobo kokuhlukahluka kwezakhi zofuzo ngaphakathi kwala maqembu, izinguquko ezithile zidluliselwa kalula ezinzalweni, okuholela ezingeni eliphakeme lezifo ze-autosomal.
Ukuguqulwa komthelela kumaJuda ase-Ashkenazi kuhlotshaniswa nohlobo lwesibili futhi kungalandelwa emuva njengoMinyaka Ephakathi.
Ngokufanayo, uhlobo lwe-3 lubonakala ngokuyinhloko kubantu abavela esifundeni saseNorrbotten saseSweden futhi babuyiselwa emuva kumsunguli oyedwa owafika enyakatho yeSweden noma ngaphambi kwekhulu le-16.
Ukuxilongwa
Abantu abasolwa ukuthi banesifo se-Gaucher bazohlolwa ukuhlola izinga le-beta-glucocerebrosidase egazini labo. Amaphesenti angaphansi kwamaphesenti angu-15 avamile, kanye nezimpawu zomtholampilo, ngokuvamile kuvame ukuqinisekisa ukuxilongwa. Uma kukhona ukungabaza, ukuhlolwa kofuzo kungasetshenziswa ukukhomba ukuguquguquka kwe-GBA.
Udokotela uzophinde enze izivivinyo ukuze ahlole umonakalo wamathambo, i-spleen, noma isibindi. Lokhu kungabandakanya ukuhlolwa kokusebenza kwesibindi , ukuskena kwe -ray-ray ye-X-ray absorptometry (DEXA) ukukala ubuningi be-bone, noma ukukhipha isithombe se- resonance magnetic (MRI) ukuze kuhlolwe isimo sesibindi, isibungu noma umongo we-bone.
Izinketho zokwelapha
Uma umuntu enesifo sohlobo lwe-Gaucher 1 noma uhlobo lwe-3, ukwelashwa kuzobandakanya ukwelapha okushintshwa kwe-enzyme (ERT). Lokhu kuzobandakanya ukulethwa kwe-beta-glucocerebrosidase ngokwenziwa kwe-intravenous drip.
I-US Food and Drug Administration (FDA) ivume izidakamizwa ezintathu ezinjalo kulolu hlelo:
- I-Cerezyme (i-gluccerase)
- I-Elelyso (i-taliglucerase)
- I-Vpriv (i-velaglucerase)
Ngenkathi i-ERT iphumelela ekunciphiseni ubukhulu besibindi nesibhande, ukunciphisa ukukhubazeka kwemfuyo, nokuguqula ezinye izimpawu zesifo, kubiza kakhulu (ngaphezu kuka-$ 200,000 ngonyaka). Kanti futhi ayikwazi ukuwela umkhawulo wegazi , okusho ukuthi kungenzeka ukuthi awuphumelele ekwelapheni izifo ezibucayi ezihlobene nobuchopho.
Ngaphezu kwalokho, ngoba i-Gaucher iyisifo esingajwayelekile, akekho oqiniseke ukuthi yiyiphi imithi edingekayo ukuze kutholakale umphumela omuhle ngaphandle kokuqeda lesi sifo.
Ngaphandle kwe-ERT, imithi emibili yomlomo nayo yamukelwa yi-FDA ukuvimbela ukukhiqizwa kwe-lipids kubantu abane-type 1 Gaucher isifo:
- Zavesca (miglustat)
- I-Cerdelga (eliglustat)
Ngokudabukisayo, akekho ukwelashwa okuphumelelayo kwe-Gaucher disease type 2. Ukuzama ukugxila ekulawuleni izimpawu zesifo futhi kuzovame ukuhilela ukusebenzisa ama-antibiotic, imishanguzo elwa nokulwa, ukusiza ukuphefumula, kanye namathole wokudla .
I-Genetic Screening
Ngenxa yokuthi isifo se-Gaucher sisifo esibucayi esivela kubazali kuya enzalweni, iningi labantu abadala abakwazi ukuthi bayithwali ngoba abanaso lesi sifo ngokwabo.
Uma uyingxenye eqenjini eliyingozi noma unomlando womndeni we-Gaucher, ungase ufune ukuhlolwa kokususa izakhi ukuze ubone isimo sakho senethiwekhi. Noma kunjalo, ukuhlolwa kungabonisa ukuguqulwa kwe-GBA okuyisishiyagalombili kakhulu futhi kungase kube nokulinganiselwa kulokho okungakutshela mayelana nengozi yakho yangempela.
Imibhangqwana enengozi eyaziwa noma ekhonjelwayo nayo ingakhetha ukuhlolwa kwezinto zofuzo okwenziwe ngesikhathi sokukhulelwa ngokukhipha amaseli wesisu nge-amniocentesis noma i-chorionic villus screening (CVS). Uma ukukhathazeka kwe-Gaucher kuphawulwe, ukuhlola okunzulu okungaphezulu kungenziwa ukuze kutholakale kangcono uhlobo.
Uma imiphumela emihle ibuyiselwe, kubalulekile ukukhuluma nodokotela ochwepheshe ukuqonda ngokugcwele lokho okutholakala khona nokuthola ukuthi yini ongakhetha ngayo. Akukho ukukhetha okulungile noma okungalungile, okuwukuthi wena nomngane wakho ozithandayo unelungelo lokugcina imfihlo nokuhlonipha.
> Imithombo:
> Campbell, T. and Choy, R. "Izifo ze-Gaucher kanye ne-syntucleinopathies: ukuhlanza ubuhlobo." I-Orphanet J Rare Dis. 2012: 7:12. I-DOI: 10.1186 / 1750-1172-7-12.
> Nagral, A. "Isifo Sezinkuni." J Clin Exp Hepatol . 2014; 4 (1): 37 -50. I-DOI: 10.1016 / j.jceh.2014.02.005.
> I-National Gaucher Foundation. "Kuyini Isifo Sokuqapha?" I-Rockville, Maryland.
> Izikhungo Zikazwelonke Zempilo. "Izifo ze-Gaucher." I-Genet Home Ref. I-Bethesda, e-Maryland; ibuyekeziwe ngoJanuwari 30, 2018.