Isifo sikaWilson

Isifo sikaWilson sisifo esizuzwe njengelifa apho kukho ubhedu oluninzi kakhulu kwizicwili zomzimba. Ubhedu olugqithisileyo lonakalisa isibindi kunye ne-nervous system.

Isifo sikaWilson sisifo esingaqhelekanga esivela kwilifa. Ukuba bobabini abazali baphethe ufuzo olungalunganga lwesifo sikaWilson, kukho ithuba elingama-25% kukhulelwa ngalunye lokuba umntwana abe nesifo.

Isifo sikaWilson sibangela ukuba umzimba ungene kwaye ugcine ubhedu oluninzi. Ubhedu lubeka esibindini, kwingqondo, kwizintso kunye namehlo. Oku kubangela ukonakala kwethishyu, ukufa kwethishu kunye nokuqhekeka. Amalungu achaphazelekayo ayayeka ukusebenza ngendlela eqhelekileyo.

Le meko ixhaphake kakhulu kwimpuma yeYurophu, iSicilians, kunye namaTaliyane asezantsi, kodwa inokwenzeka nakweliphi na iqela. Isifo sikaWilson sibonakala kubantu abangaphantsi kweminyaka engama-40 ubudala. Kubantwana, iimpawu ziqala ukubonisa kwiminyaka emi-4 ubudala.

Iimpawu zingabandakanya:

• Ukuma ngokungaqhelekanga kweengalo nemilenze
• Isifo samathambo
• Ukudideka okanye ukuphambana
• Isifo sengqondo esiyingozi
• Kunzima ukuhambisa iingalo kunye nemilenze, ukuqina
• Unzima ukuhamba (ataxia)
• Utshintsho lweemvakalelo okanye lokuziphatha
• Ukwandiswa kwesisu ngenxa yokuqokelelwa kolwelo (ascites)
• Ubuntu buyatshintsha
• I-phobias, uxinzelelo (i-neuroses)
• Ukuhamba kancinci
• Ukuhamba kancinci okanye ukwehla kokuhamba kunye nembonakalo yobuso
• Ukonakala kwentetho
• Ukungcangcazela kweengalo okanye kwezandla
• Intshukumo engalawulekiyo
• Intshukumo engalindelekanga kunye ne-jerky
• Ukuphalaza igazi
• Ubuthathaka
• Isikhumba esimthubi (i-jaundice) okanye umbala omthubi omhlophe wamehlo (icterus)

Uvavanyo lwamehlo olukhanyisiweyo lunokubonisa:

• Ukuhamba kwamehlo okulinganiselweyo
• Iringi ebomvu okanye emdaka ngombala ejikeleze iris (amakhonkco eKayser-Fleischer)

Uvavanyo lomzimba lunokubonisa iimpawu zoku:

• Ukonakala kwenkqubo ye-nervous central, kubandakanya ukuphulukana nokulungelelanisa, ukuphulukana nolawulo lwemisipha, ukungcangcazela kwemisipha, ukuphulukana nokucinga kunye ne-IQ, ukulahleka kwememori, kunye nokudideka (i-delirium okanye isifo sengqondo esixhalabisayo)
• Ukuphazamiseka kwesibindi okanye udakada (kubandakanya i-hepatomegaly kunye ne-splenomegaly)

Uvavanyo lwelebhu lunokubandakanya:

• Gcwalisa ubalo lwegazi (CBC)
• I-serum ceruloplasmin
• Ubhedu lweSerum
• I-Serum uric acid
• Umchamo ubhedu

Ukuba kukho iingxaki zesibindi, uvavanyo lwelebhu lunokufumana:

• I-AST ephezulu kunye ne-ALT
• Ibhilirubin ephezulu
• PT ephezulu kunye ne-PTT
• Ialbhamu encinci

Olunye uvavanyo lunokubandakanya:

• Uvavanyo lobhedu lweeyure ezingama-24
• X-ray esiswini
• I-MRI yesisu
• Ukuvavanywa kwe-CT kwesisu
• Ukuskena iNtloko ye-CT
• Intloko ye-MRI
• Isibindi se-biopsy
• I-endoscopy ephezulu ye-GI

I-gene ebangela isifo seWilson ifunyenwe. Ibizwa njalo I-ATP7B. Uvavanyo lwe-DNA luyafumaneka kolu hlobo.Thetha nomboneleli wakho wezempilo okanye umcebisi wezofuzo ukuba ungathanda ukuba kwenziwe uvavanyo lofuzo.

Injongo yonyango kukunciphisa inani lobhedu kwizicubu. Oku kwenziwa yinkqubo ebizwa ngokuba yi-chelation. Amayeza athile anikezelwa abopha ubhedu kwaye ancede ukuwasusa ngezintso okanye amathumbu. Unyango kufuneka lubekho ubomi bonke.

Amayeza alandelayo anokusetyenziswa:

• I-Penicillamine (enjenge-Cuprimine, i-Depen) ibopha ubhedu kwaye ikhokelela ekukhulisweni kobhedu kumchamo.
• I-Trientine (njenge-Syprine) ibopha (i-chelates) ubhedu kwaye inyuse ukukhutshwa kwayo kumchamo.
• I-Zinc acetate (enjengeGalzin) ibhloka ibhedu ekungeniseni ithumbu.

Izongezelelo zeVitamin E zisenokusetyenziswa.

Ngamanye amaxesha, amayeza akopa ubhedu (njengepenicillamine) anokuchaphazela ukusebenza kwengqondo kunye nenkqubo yemithambo-luvo. Amanye amayeza aphantsi kophando anokubopha ubhedu ngaphandle kokuchaphazela ukusebenza kwemithambo-luvo.

Ukutya okunobhedu oluncinci kunokucetyiswa. Ukutya okuphephekileyo kubandakanya:

• Itshokholethi
• Isiqhamo esomileyo
• Isibindi
• Amakhowa
• Amantongomane
• Igobolondo

Unokufuna ukusela amanzi acociweyo kuba amanzi athile etephu ahamba kumbhobho wobhedu. Gwema ukusebenzisa izixhobo zokupheka zethusi.

Iimpawu zinokulawulwa ngokwenza umthambo okanye unyango lomzimba. Abantu abadidekileyo okanye abangakwaziyo ukuzikhathalela banokufuna iindlela ezizodwa zokuzikhusela.

Ukufakelwa kwesibindi kunokuqwalaselwa kwiimeko apho isibindi sonakaliswe kakhulu sesi sifo.

Amaqela enkxaso yesifo sikaWilson afumaneka ku-www.wilsonsdisease.org naku www.geneticalliance.org.

Unyango lwexesha elide luyafuneka ukulawula isifo seWilson. Ukuphazamiseka kunokubangela iziphumo ezibi, njengokulahleka kwesibindi. ICopper inokuba neziphumo eziyityhefu kwinkqubo yeemvakalelo. Kwiimeko apho ukuphazamiseka kungabulali, iimpawu zinokukhubaza.

Iingxaki zinokubandakanya:

• I-anemia (i-hemolytic anemia inqabile)
• Iingxaki zenkqubo ye-nervous
• Isibindi
• Ukufa kwezicubu zesibindi
• Isibindi esinamafutha
• Hepatitis
• Ukwanda kwamathuba okophuka kwamathambo
• Ukwanda kwenani losulelo
• Ukwenzakala okubangelwa kukuwa
• I-jaundice
• Iikhontrakthi ezidibeneyo okanye ezinye iziphene
• Ukuphulukana nokukwazi ukuzikhathalela
• Ukuphulukana nokukwazi ukusebenza emsebenzini nasekhaya
• Ukuphulukana nokukwazi ukunxibelelana nabanye abantu
• Ukuphulukana nobunzima bemisipha (atrophy yemisipha)
• Iingxaki zengqondo
• Iziphumo ebezingalindelekanga zepenicillamine kunye namanye amayeza asetyenziselwa ukunyanga esi sifo
• Iingxaki zepeyile

Ukusilela kwesibindi kunye nomonakalo kwinkqubo ye-nervous system (ingqondo, umnqonqo) zezona zinto zixhaphakileyo neziyingozi kwizifo. Ukuba esi sifo asibanjwa size sinyangwe kwangethuba, sinokubulala.

Tsalela umnikezeli wakho ukuba uneempawu zesifo sikaWilson. Biza umcebisi wemfuza ukuba unembali yesifo seWilson kusapho lwakho kwaye uceba ukuba nabantwana.

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho yesifo sikaWilson.

Isifo sikaWilson; Ukonakala kweHepatolenticular

• Inkqubo ye-nervous central kunye ne-peripheral system
• Uvavanyo lomchamo wobhedu
• I-anatomy yesibindi

IZiko leLizwe leSwekile kunye neWebhusayithi kunye neZifo zeZintso. Isifo sikaWilson. www.niddk.nih.gov/health-information/liver-disease/wilson-disease. Ukuhlaziywa kweyeNkanga ngo-2018. Ifikeleleke ngoNovemba 3, 2020.

URoberts EA. Isifo sikaWilson. Ku: UFeldman M, uFriedman LS, uBrandt LJ, ii-eds. Sleisenger kunye neFordtran's Gastrointestinal and Liver Disease. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2021: isahluko 76.

ISchilsky ML. Isifo sikaWilson. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 200.