Isifo sikaWilson

Isifo i-Wilson yisifo esizuzwe njengefa lapho kunethusi eliningi kakhulu ezicutshini zomzimba. Ithusi elingeqile lilimaza uhlelo lwesibindi nolwezinzwa.

Isifo sikaWilson yisifo esingajwayelekile esizuzwe njengefa. Uma bobabili abazali bephethe isakhi sofuzo esingalungile sesifo sikaWilson, kunamathuba angama-25% ekukhulelweni ngakunye kokuthi ingane izoba nalesi sifo.

Isifo i-Wilson senza ukuthi umzimba ungenise futhi ugcine ithusi eliningi kakhulu. Ithusi lifaka isibindi, ubuchopho, izinso namehlo. Lokhu kubangela ukulimala kwezicubu, ukufa kwezicubu kanye nesibazi. Izitho ezithintekile ziyeka ukusebenza ngokujwayelekile.

Lesi simo sivame kakhulu empumalanga yeYurophu, iSicilians, kanye nabaseningizimu namaNtaliyane, kepha kungenzeka kunoma yiliphi iqembu. Isifo seWilson sivela kubantu abangaphansi kweminyaka engama-40 ubudala. Ezinganeni, izimpawu ziqala ukukhombisa ngeminyaka engu-4.

Izimpawu zingafaka:

• Ukuma okungavamile kwezingalo nemilenze
• Isifo samathambo
• Ukudideka noma i-delirium
• Ukuwohloka komqondo
• Kunzima ukuhambisa izingalo nemilenze, ukuqina
• Kunzima ukuhamba (ataxia)
• Izinguquko ezingokomzwelo noma zokuziphatha
• Ukwandiswa kwesisu ngenxa yokuqongelelwa koketshezi (ascites)
• Ubuntu buyashintsha
• I-Phobias, usizi (i-neuroses)
• Ukuhamba kancane
• Ukuhamba kancane noma ukwehla kwezinkulumo nobuso
• Ukukhubazeka kwenkulumo
• Ukudlidlizela kwezingalo noma kwezandla
• Ukunyakaza okungalawuleki
• Ukunyakaza okungalindelekile futhi okunyantisayo
• Kuhlanza igazi
• Ubuthakathaka
• Isikhumba esiphuzi (i-jaundice) noma umbala ophuzi omhlophe wamehlo (icterus)

Ukuhlolwa kweso lesibani esikhanyisiwe kungakhombisa:

• Ukuhamba kwamehlo okulinganiselwe
• Indandatho enombala onsundu noma onsundu ezungeze iris (Amasongo e-Kayser-Fleischer)

Ukuhlolwa ngokomzimba kungakhombisa izimpawu ze:

• Ukulimala kwesistimu yezinzwa eziphakathi, kufaka phakathi ukulahleka kokuxhumanisa, ukulahleka kokulawulwa kwemisipha, ukuthuthumela kwemisipha, ukulahleka kokucabanga kanye ne-IQ, ukulahleka kwememori nokudideka (i-delirium noma i-dementia)
• Ukuphazamiseka kwesibindi noma ubende (kufaka phakathi i-hepatomegaly ne-splenomegaly)

Ukuhlolwa kwelebhu kungafaka:

• Qedela ukubalwa kwegazi (CBC)
• I-serum ceruloplasmin
• Ithusi leSerum
• I-Serum uric acid
• Umchamo wethusi

Uma kunezinkinga zesibindi, izivivinyo zelebhu zingathola:

• I-AST ephezulu ne-ALT
• I-bilirubin ephezulu
• PT ephezulu ne-PTT
• I-albhamuin ephansi

Ezinye izivivinyo zingafaka:

• Ukuhlolwa kwethusi kwe-urine kwamahora angama-24
• I-x-ray yesisu
• I-MRI yesisu
• I-CT scan yesisu
• Iskena sekhanda le-CT
• Inhloko ye-MRI
• I-biopsy yesibindi
• I-endoscopy ephezulu ye-GI

Kutholakele ufuzo oludala isifo seWilson. Ibizwa I-ATP7B. Ukuhlolwa kwe-DNA kuyatholakala kulesi sakhi sofuzo.Khuluma nomhlinzeki wakho wezokunakekelwa kwempilo noma umeluleki wezofuzo uma ungathanda ukuthi kwenziwe ukuhlolwa kofuzo.

Inhloso yokwelashwa ukunciphisa inani lethusi ezicutshini. Lokhu kwenziwa ngenqubo ebizwa nge-chelation. Kunikezwa imithi ethile ebopha ithusi futhi isize ukuyikhipha ngezinso noma ngamathumbu. Ukwelashwa kufanele kube impilo yonke.

Imithi elandelayo ingasetshenziswa:

• I-Penicillamine (njenge-Cuprimine, i-Depen) ibopha ithusi futhi iholela ekukhululweni kokukhululwa kwethusi emchameni.
• I-Trientine (njenge-Syprine) ibopha (i-chelates) ithusi futhi inyuse ukukhishwa kwayo ngomchamo.
• I-Zinc acetate (efana neGalzin) ivimba ithusi ukuthi lingangeni kumgudu wamathumbu.

Izithako ze-Vitamin E nazo zingasetshenziswa.

Kwesinye isikhathi, imithi ekopisha ithusi (njenge-penicillamine) ingathinta ukusebenza kobuchopho nohlelo lwezinzwa (ukusebenza kwezinzwa). Eminye imithi ephenywayo ingabopha ithusi ngaphandle kokuthinta ukusebenza kwezinzwa.

Ukudla okunethusi ephansi nakho kunganconywa. Ukudla okufanele ukugweme kufaka phakathi:

• Ushokoledi
• Izithelo ezomile
• Isibindi
• Amakhowe
• Amantongomane
• Imbaza

Ungahle uthande ukuphuza amanzi acolisisiwe ngoba amanye amanzi ompompi ahamba ngamapayipi ethusi. Gwema ukusebenzisa izinto zokupheka zethusi.

Izimpawu zingaphathwa ngokuzivocavoca noma ngokwelashwa ngokomzimba. Abantu abadidekile noma abangakwazi ukuzinakekela bangadinga izinyathelo ezikhethekile zokuzivikela.

Ukufakelwa kwesibindi kungabhekwa ezimweni lapho isibindi silinyazwe kakhulu yilesi sifo.

Amaqembu okusekelwa kwezifo zikaWilson angatholakala ku-www.wilsonsdisease.org naku www.geneticalliance.org.

Ukwelashwa okuhlala isikhathi eside kuyadingeka ukulawula isifo seWilson. Lesi sifo singadala imiphumela ebulalayo, njengokulahleka kwesibindi. Ithusi lingaba nemiphumela enobuthi ohlelweni lwezinzwa. Ezimweni lapho ukugula kungabulali, izimpawu zingakhubaza.

Izinkinga zingafaka:

• I-anemia (i-hemolytic anemia ayivamile)
• Izinkinga zesistimu yezinzwa eziphakathi
• Isifo sokuqina kwesibindi
• Ukufa kwezicubu zesibindi
• Isibindi esinamafutha
• Isibindi
• Ukwanda kwamathuba okuphuka kwamathambo
• Inani elandayo lokutheleleka
• Ukulimala okubangelwa ukuwa
• I-jaundice
• Izinkontileka ezihlangene noma okunye ukukhubazeka
• Ukulahleka kwekhono lokuzinakekela
• Ukulahlekelwa amandla okusebenza emsebenzini nasekhaya
• Ukulahlekelwa kwamandla okuxhumana nabanye abantu
• Ukulahlekelwa kwemisipha (i-muscle atrophy)
• Izinkinga zengqondo
• Imiphumela emibi ye-penicillamine neminye imithi esetshenziselwa ukwelapha lesi sifo
• Izinkinga zobende

Ukwehluleka kwesibindi kanye nokulimala kwesistimu yezinzwa emaphakathi (ubuchopho, umgogodla) imiphumela ejwayelekile futhi eyingozi yesifo. Uma lesi sifo singabanjwa futhi silashwe kusenesikhathi, singabulala.

Shayela umhlinzeki wakho uma unezimpawu zesifo seWilson. Shayela umeluleki wezofuzo uma unomlando wesifo seWilson emndenini wakho futhi uhlela ukuba nezingane.

Ukwelulekwa ngofuzo kunconyelwa abantu abanomlando womndeni wesifo sikaWilson.

Isifo sikaWilson; Ukwehla kwe-hepatolenticular

• Isistimu yezinzwa emaphakathi nesistimu yezinzwa ezungezayo
• Ukuhlolwa komchamo wethusi
• I-anatomy yesibindi

I-National Institute of Diabetes kanye newebhusayithi yezifo zeDigestive and Kidney. Isifo sikaWilson. www.niddk.nih.gov/health-information/liver-disease/wilson-disease. Kubuyekezwe ngoNovemba 2018. Kufinyelelwe ngoNovemba 3, 2020.

URoberts EA. Isifo sikaWilson. Ku: Feldman M, Friedman LS, Brandt LJ, ama-eds. Sleisenger kanye neFordtran's Gastrointestinal and Liver Disease. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2021: isahluko 76.

USchilsky ML. Isifo sikaWilson. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 200.