Isifo se-genetic sibangela ukuqoqwa ketshezi okulimazayo
Isifo sikaWilson, esaziwa ngokuthi i-hepatolenticular degeneration, isifo esiwumzimba esiholela ekuqongeni ngokweqile kophusi emzimbeni. Kuyisifo esingavamile esithinta umuntu kubo bonke abantu abangu-30,000. Ukuze umuntu athinteke, kumele athathe i-genetic mutation ethile kusuka kumuntu oyedwa kodwa abazali bobabili.
Lokhu kutholakala okungavamile koketshezi kunomthelela kakhulu esibindi, ebuchosheni, ezinsoweni nasweni kodwa kungathinta nenhliziyo nesistimu ye-endocrine.
Izimpawu zesifo sikaWilson zivame ukuzibonakalisa zisencane empilweni, ngokuvamile ziphakathi kweminyaka emihlanu no-35. Izinkinga zesifo zingabandakanya ukuhluleka kwesibindi, izinkinga zezinso, futhi ngezinye izikhathi izimpawu ze-neuropsychiatric ezinzulu.
Izimbangela
Isifo sikaWilson yisifo esizuzwe njengefa kuphethini yokuzivumelanisa nge-autosomal . Lokho kusho ukuthi bobabili abazali baba yizinkampani zokuguqula izakhi zofuzo, nakuba kungenjalo ngeke kube nezimpawu noma umlando womndeni wesifo. Abantu abathwala imithi bangase babe nobufakazi be-metabolism engavamile okwesibani kodwa ngokuvamile akwanele ukufaka ukungenelela kwezokwelapha.
Isifo sikaWilson singenye yezinkinga eziningana zezakhi zofuzo lapho ithusi lwakhiwa ngokungavamile ohlelweni, ngokuvamile esesibindi. Kuhilela isakhi esibizwa ngokuthi i-ATP7B eyenziwa ngumzimba ukuthungatha ithusi libe yi- bile . Ukuguqulwa kwalesi sakhi kuvimbela le nqubo futhi kuphazamise ukungena kwethusi emzimbeni.
Njengoba izitha zethusi ziqala ukuqeda isibindi, umzimba uzozama ukuwaphulisa ngokufihla i-hydrochloric acid ne-ferrous iron ukuze ixube amakhemikhali ethusi. Ngokuhamba kwesikhathi, lokhu kusabela kungabangela ukonakala kwesibindi (fibrosis), isifo sofuba nesifo se- cirrhosis.
Ngenxa yokuthi ithusi liphakathi kokubili ukwakhiwa kwe-collagen kanye nokwamukelwa kwensimbi, noma yikuphi ukulimala kwalolu hlelo kungabangela ukulimala ngesikhathi esencane.
Yingakho isifo sikaWilson singabangela ukushisa kwesibindi eminyakeni yokuqala yokuqala yokuphila ne-cirrhosis (isimo esivame ukuhlotshaniswa nabantu abadala) kubantu abasha kanye nabantu abadala.
Izimpawu ezihlobene nesibindi
Izimpawu zesifo sikaWilson ziyahlukahluka endaweni yokulimala kwezicubu. Njengoba ithusi livame ukuqoqa esibindi nasebuchosheni kuqala, izimpawu zesifo zivame ukubonakala kakhulu kulezi zinhlelo zomzimba.
Izimpawu zokuqala zesibindi sokukhubazeka ngokuvamile zifana nalabo abonwa nge-hepatitis . Ukuthuthukiswa okuqhubekayo kwe-fibrosis kungaholela esimweni esibizwa ngokuthi i- portal hypertension lapho i-blood pressure ngaphakathi kwesibindi iqala ukuphakama. Njengoba ukulimala kwesibindi kwanda, umuntu angase ahlangane nezenzakalo ezinkulu ezisongela ukuphila, okubandakanya ukuphuma kwangaphakathi nokuhluleka kwesibindi .
Phakathi kwezibonakaliso ezihlobene kakhulu zesibindi ezihlobene nesifo esibonakala kulesi sifo sikaWilson:
- Ukukhathala
- I-nausea
- Ukuvota
- Ukulahlekelwa kwesifiso
- Ama-cramp muscle
- I-Yellowing yesikhumba namehlo (i- jaundice )
- I-fluid eqoqwe emilenzeni (i- edema )
- Ukuqoqa uketshezi esiswini ( ascites )
- I-spider-like likeining on the skin (spider angiomas)
- Ubuhlungu noma ukugcwala kwesisu esisenhla kwesisu ngenxa yengubo ekhulisiwe
- Ukuvuthwa kwegazi noma izitsha zokulinda ngenxa yezimo eziphuthumayo
Nakuba i-cirrhosis ivame ukuvela kubantu abanesifo esinzima, esingasetshenziswanga nesifo sika-Wilson, asivame ukuqhubeka nomdlavuza wesibindi (ngokungafani ne-cirrhosis ehambisana ne-virus yesifo sofuba noma udoti ).
Izimpawu Zezinzwa
Ukuhluleka kwesibindi esiphezulu kubonakala ekuthuthukiseni uhlobo lwe-anemia okuthiwa i- hemolytic anemia lapho amangqamuzana egazi abomvu ayobhubha ngokoqobo futhi afe. Njengoba amangqamuzana egazi abomvu aqukethe kathathu inani le-ammonia njenge-plasma (ingxenye yegazi), ukubhujiswa kwala maseli kungabangela ukukhushulwa okusheshayo kwe-ammonia kanye nezinye izinhlayiya ekusakazweni kwegazi.
Lapho lezi zinto zithukuthelisa ubuchopho, umuntu angase ahlakulele i-encephalopathy , ngokulahlekelwa kobuchopho ngenxa yesifo sesibindi. Izimpawu zingafaka:
- I-Migraines
- Ukungalali
- Ukulahlekelwa kwememori
- Inkulumo emisiwe
- Izinguquko embonweni
- Izinkinga zokuhamba nokulahlekelwa kwesilinganiso
- Ukukhathazeka noma ukucindezeleka
- Izinguquko zomuntu (kufaka phakathi ukungaziphathi kahle nokwehluleka)
- I-Parkinsonism (ukuqina, ukuthuthumela, ukuhamba kancane)
- I-Psychosis
Ngenxa yokuthi izimbangela ezingase zivele kulezi zimpawu zikhulu, isifo sikaWilson asitholakali sitholwa ngezici ze-neuropsychiatric yedwa.
Ezinye Izimpawu
Ukuqoqwa okungavamile koketshezi emzimbeni kungathinta ngokuqondile nangokungaqondile ezinye izinhlaka zomzimba, futhi.
- Uma kwenzeka ngaphakathi kwamehlo, isifo sikaWilson singabangela uphawu lwezinhlamvu olubizwa ngokuthi amaKayser-Fleisher. Lezi yizintambo ze-golden-brown discoloration ezungeze umjikelezo we-iris obangelwa yi-deposit ye-copper excess. Kwenzeka kumaphesenti angu-65 abantu abanesifo sikaWilson.
- Uma kwenzeka ezinyangeni, isifo sikaWilson singabangela ukukhathala, ubuthakathaka bemisipha, ukudideka, amatshe ezinso, kanye negazi emcimbini ngenxa ye-acids ngokweqile egazini. Lesi simo singase sibangele ukufaka i-calcium ngokweqile ezinso futhi, ngokuphawulekayo, ukwehlisa amathambo ngenxa yokwabiwa kabusha nokulahlekelwa kwe-calcium.
Nakuba kungavamile, isifo sikaWilson singabangela ukugula komzimba (ubuthakathaka benhliziyo) kanye nokungabi nabantwana kanye nokukhulelwa kwesisu okuphindaphindiwe ngenxa yokukhubazeka kwegciwane.
Ukuxilongwa
Ngenxa yobuningi bezimpawu ezingase zibe khona, isifo sikaWilson singase sibe nzima ukuyihlola. Ikakhulukazi uma lezi zimpawu zingacacile, lesi sifo singase siphuthe kalula kalula konke okusuka enobuthi obunzima obushubile kanye nesifo sofuba esibhedlela C kuya emithini yemithi ephethwe yi-lupus kanye ne-cerebral palsy.
Uma ngabe isifo sikaWilson sisolwa, uphenyo luzohlanganisa ukubuyekezwa kwezibonakaliso zomzimba kanye nokuhlolwa kwezinombolo zokuhlola, kufaka phakathi:
- Ukuhlolwa kwe-enzyme yesibindi
- Ukuhlolwa kwegazi ukuhlola amazinga aphakeme wezethusi namazinga aphansi we-ceruloplasmin (iphrotheni ehambisa ithusi ngegazi)
- Ukuhlolwa kwegazi kwe-glucose ukuhlola amazinga ashukela ephansi egazi
- Iqoqo le-urine lamahora angu-24 ukuhlola ama-acidity namazinga we-calcium
- I-biopsy ye-fover ukukala ubunzima bokubuthelwa kwethusi
- Izivivinyo ze-Genetic ukuqinisekisa ukuthi kukhona ukuguqulwa kwe-ATB7B
Ukwelapha
Ukuxilongwa kokuqala kwesifo sikaWilson ngokuvamile kuvumelana nemiphumela engcono. Abantu abatholakala benesifo bavame ukuphathwa ngezinyathelo ezintathu:
- Ukwelashwa kuvame ukuqala ngokusetshenziswa kwezidakamizwa ezibhebhethekisa ukukhipha ishusi esivela ohlelweni. I-penicillamine ngokuvamile iyisidakamizwa sokuqala yokuzikhethela. Isebenza ngokubopha ngethusi, okuvumela ukuba insimbi ibe lula kakhulu emcinini. Ngezinye izikhathi imiphumela emibi ibalulekile futhi ingabandakanya ubuthakathaka obuthakathaka, ukuqhuma, nobuhlungu obuhlangene. Phakathi kwalabo abathola izimpawu, amaphesenti angu-50 azobhekana nezimo ezimbi ezimbi kakhulu. Esimweni esinjalo, izidakamizwa zemigqa yesibili zingabekwa.
- Uma amazinga okushisa ejwayelekile, i-zinc ingahle ibekwe njengendlela yokwelashwa kwesondlo. I-Zinc ethathwe ngomlomo ivimbela umzimba ukuthi ungayitholi ithusi. Ukuphumula kwesisu kuyisici esivamile kakhulu.
- Izinguquko zokudla ziqinisekisa ukuthi ugwema ukuqeda ithusi elingenalutho. Lokhu kuhlanganisa nokudla okunothile okufana ne-shellfish, isibindi, amantongomane, amakhowe, izithelo ezomisiwe, ibhotela le-peanut, ne-chocolate emnyama. Izithako eziqukethe i-Copper, njenge-multivitamines kanye nalawo asetshenziselwa ukwelapha i-osteoporosis, zingadinga ukufaka endaweni.
Abantu abanezifo ezinzima zesibindi abangakwazi ukuphendula ukwelashwa bangadinga ukufakelwa kwesibindi .
> Imithombo:
> Borges Pinto, R .; U-Reis Schneider, A .; no-da Silveira, T. "I-cirrhosis ezinganeni nasebancane: Ukubuka konke." I-World Journal ye-Hepatology. 2015; 7 (): 392-405.
> Patil, M .; Ishethi, K .; Krishnamurthy, A. et al. "Ukubuyekezwa Nokubheka Kwamanje Ngezifo ZaseWilson." Journal of Hepatology Clinic and Testing. 2013; 3 (4): 321-336.