Ingxaki ye-Genetic ibangela ukuqokelela okonobhedu
Isifo sikaWilson, esaziwa ngokuba yi-hepatolenticular diseneration, sisifo se-genetic esibangela ukuqokelela kobhedu emzimbeni. Ingxaki engavamile echaphazela omnye kubantu abayi-30,000. Ukuze umntu athatyathwe, kufuneka azuze iinguqu ezithile zentsholongwane ezivela kumntu omnye kodwa ngabazali bobabini.
Ukuqokelela okungaqhelekanga kobhedu kuninzi kukuchaphazela isibindi, ubuchopho, izintso kunye namehlo kodwa kunokuchaphazela intliziyo kunye ne-endocrine system.
Izibonakaliso zesifo sikaWilson zivame ukubonakalisa kungekudala ebomini, ngokuqhelekileyo phakathi kweminyaka emihlanu no-35. Iingxaki zesifo zingaquka ukuhluleka kwesibindi, iingxaki zeengxaki, kunye namaxesha amaninzi iimpawu ze-neuropsychiatric.
Izizathu
Isifo sikaWilson sisifo esizuze njengefa kwi- autosomal pattern . Oko kuthetha ukuthini ukuba abazali bobabini baninzi bezithuthi zokuguquka kwemfuyo, nangona bengenayo impawu okanye imbali yentsapho yesi sifo. Abantu abathuthayo banokuba nobungqina obunqabileyo bokubhebhetheka kwesibetri kodwa abangekho ngokwaneleyo ukuba bavumele ukungenelela kwezonyango.
Isifo sikaWilson sisinye sezifo ezininzi zofuzo apho ubhedu obungakhiwa ngokungaqhelekanga kwinkqubo, kaninzi kwisibindi. Iquka i-gene ebizwa nge-ATP7B eyenziwa ngumzimba ukufaka ubhedu kwi- bile . Ukuguqulwa kwelo geni kuvimbela le nkqubo kwaye kukuphazamisa ukuphuma kwebhedu emzimbeni.
Njengoko iinqanaba zobhedu ziqala ukugubungela isibindi, umzimba uya kuzama ukuwaphula ngokufihla i-hydrochloric acid kunye neensimbi ezivuthayo ukuze zikhuphe iimolekyuli zethusi. Emva kwexesha, le mpendulo ingabangela ukonakala kwesibindi (fibrosis), i- hepatitis , ne-cirrhosis.
Ngenxa yokuba ubhedu buphambili kokubili ukwakheka kwe-collagen kunye nokutyunjwa kwensimbi, nayiphina impazamo yale nkqubo ingabangela ukulimala kwasebuncinaneni.
Yingakho isifo sikaWilson singabangela i-hepatitis kwiminyaka emithathu yokuqala yobomi kunye ne-cirrhosis (imeko eqhelekileyo idibaniswa nabantu abadala) abaselula kunye nabantu abadala.
Iimpawu ezihambelana neSibindi
Iimpawu zesifo sikaWilson ziyahluka ngendawo yomonakalo wesisu. Ekubeni ubhedu buya kuqokelela kwisibindi kunye nengqondo kuqala, iimpawu zesifo zidla ngokubonakala zixakeke kakhulu kulezi zixhobo zesebe.
Iimpawu zokuqala zesibindi sokukhubazeka zivame ukufana nezo zibonwa ngesifo sofuba . Uphuhliso oluqhubekayo lwe-fibrosis lungakhokelela kwimeko eyaziwa ngokuba yi- portal yongcinezelo yecala apho ixinzelelo legazi ngaphakathi kwesibindi liqala ukuphakama. Njengoko umonakalo kwesibindi ukwanda, umntu unokufumana iziganeko ezinzulu nezingozi zokuphila, kubandakanywa ukuphuma kwegazi kunye nokungaphumeleli kwesibindi .
Phakathi kweempawu eziqhelekileyo ezinxulumene nesibindi ezibonwa kwisifo sikaWilson:
- Ukukhathala
- I sizathu
- Ukuvutha
- Ukuphelelwa kwesidlo
- Iimfampu zomzimba
- Ukuqhwala kwesikhumba kunye namehlo (i- jaundice )
- Ukubuthelwa kwamanzi kumilenze (i- edema )
- Ukuqokelela umkhuhlane kwisisu ( ascites )
- I-spider-like likeining on skin (spider angiomas)
- Ubunzima okanye ukuzalisa kwisisu esisesekhohlo ngenxa yesitya esandisiweyo
- Ukuvuthwa kwegazi okanye izitishi zokuhlala ngenxa yokunyuka kwezilwanyana
Ngoxa i-cirrhosis ibonakala kubantu abantu abanesifo esibi, esingazange baphathwe yi-Wilson, ayifumaneki isifo somhlaza wesibindi (ngokungafani ne-cirrhosis echaphazelekayo kunye ne-hepatitis okanye utywala ).
Iimpawu zeNtsholongwane
Ukuhluleka kwesibindi esilungileyo kubonakaliswe kukuphuhliswa kwefom ye-anemia ebizwa ngokuthi i- hemolytic anemia apho amangqamuzana egazi abomvu aya kuphuka aze afe. Ekubeni iiseli zegazi ezibomvu ziqulethe ngokuphindwe kathathu inani le-ammonia njenge-plasma (igalelo legazi legazi), ukutshabalaliswa kwezi iiseli kunokubangela ukuba i-ammonia ngokukhawuleza kunye nezinye i-toxins kwigazi.
Xa ezi zinto zicaphukisa ingqondo, umntu unokuhlakulela ukuphazamiseka kwengqondo , ukulahleka kwengqondo ngenxa yesifo sesibindi. Iimpawu zingabandakanya:
- Migraines
- Ukungabikho
- Ukulahleka kwememori
- Intetho edibeneyo
- Iinguqu kwimibono
- Iingxaki zokuhamba kunye nokulahlekelwa kwemali
- Ukuxhalabisa okanye ukuxinezeleka
- Utshintsho lomntu (kuquka ukungahambisani nomgwebo ongathintekiyo)
- I-Parkinsonism (ukunyaniseka, ukuthuthumela, ukunyusa ukuhamba)
- Psychosis
Ngenxa yokuba izizathu ezinokubakho kwezi mpawu zikhulu, isifo sikaWilson asiqhathaniswa ukuba sisifo se-neuropsychiatric kuphela.
Ezinye iziMpawu
Ukuqokelela okungavumelekanga kobhedu emzimbeni kunokuchaphazela ngqo nakwezinye iinkqubo zesebe, ngokunjalo.
- Xa kwenzeka ngaphakathi kwamehlo, isifo sikaWilson singabangela uphawu oluphawulekayo olubizwa ngokuba nguKayser-Fleisher. Le miqulu ye-golden-brown discoloration ejikeleze umjikelezo we-iris obangelwa iifomiti zobhedu obuninzi. Kwenzeka kuma-65 ekhulwini abantu abanesifo sikaWilson.
- Xa kuvela ezintsheni, isifo sikaWilson singabangela ukukhathala, ubuthathaka obumama, ukudideka, amatye eentso, kunye negazi emcimbini ngenxa ye-acids ezingaphezu kwegazi. Le meko inokubangela ukuba i-deposit of calcium ibe yinyango kwizintso kwaye, ngokuthe kancinci, ukubuthathaka kwamathambo ngenxa yokubuyisela kunye nokulahleka kwe-calcium.
Ngethuba lekanga, isifo sikaWilson sinokubangela ukuphelelwa yintliziyo (ubuthathaka bentliziyo) kunye nokungabikho komntwana kunye nokuphuphuma kwesisu ngokuphindaphindiweyo ngenxa yokukhubazeka kwe-thyroid.
Ukuxilongwa
Ngenxa yobungakanani beempawu ezibonakalayo, isifo sikaWilson sisinokuba nzima ukuyixilonga. Ngokukodwa ukuba iimpawu ziyinto engacacanga, eso sifo sinokuphosakeka kalula ngenxa yezinto zonke ezivela kwisinyithi esinobunzima besinyithi kunye ne- hepatitis C ukuya kwipilisi kunye ne-cerebral palsy.
Ukuba isigulane sikaWilson sikhankanywe, uphando luya kubandakanya ukuhlaziywa kwezibonakaliso zomzimba kunye nenani leemvavanyo zokuxilongwa, kuquka:
- Uvavanyo lwe-enzyme yesifo
- Iimvavanyo zegazi ukujonga amanqanaba aphezulu obhedu kunye namazinga aphantsi e-ceruloplasmin (iprotheni ehambisa ubhedu ngegazi)
- Iimvavanyo zegazi ze-glucose ukujonga iqondo eliphantsi lokushukela kwegazi
- Ukuqokelela umchamo weeyure ezingama-24 ukuvavanya i-asidi kunye namazinga e-calcium
- I-biopsy yeebindi ukulinganisa ubunzima bokuqokelela ubhedu
- Iimvavanyo ze-Genetic ukuqinisekisa ubungqina bokuguqulwa kwe-ATB7B
Unyango
Ukuxilongwa kwangaphambili kwesifo sikaWilson ngokubanzi kufaka iziphumo ezingcono. Abantu abafumene isifo baqhele ukuphathwa ngamanyathelo amathathu:
- Unyango luqala ngokusetyenziswa kwezobisi zobuncwane ukucima ubhedu obuninzi kwi-system. I-Penicillamine iqhelekileyo izidakamizwa zokuqala. Isebenza ngokubopha ngobhedu, ukuvumela ukuba isinyithi senzeke ngokukhawuleza kumchamo. Ngamanye amaxesha iziphumo ezintle zibalulekile kwaye zingabandakanya ubuthathaka obuthathaka, ukukhawuleza kunye nentlungu edibeneyo. Phakathi kwalabo bafumana iimpawu, ama-50 ekhulwini aya kuba neengxaki zokudakalisa iimpawu. Kwimeko enjalo, izidakamizwa zamibini zingamiselwa.
- Xa amanqanaba obhedu aqhelekileyo, i-zinc ingasetyathwa njengendlela yokulungisa unyango. I-Zinc ithathwe ngomlomo ivimbela umzimba ukuba ungayitholi ityhefu. Isisu sesisu sisona siphumo esivamile.
- Utshintsho oluthile lokutya luqinisekisa ukuba ugwema ukutya ukuthunga okungenagwele. Ezi ziquka ukutya okunotyebile njenge-shellfish, isibindi, iisuthi, ama-mushroom, izithelo ezomileyo, ibhotela ye-peanut, kunye nechocolatelethi emnyama. Izithako eziqukethe i-Copper, ezifana nee-multivitamines kunye nezo zisetyenziselwa ukunyanga i-osteoporosis, zinokufuna ukufakwa endaweni.
Abantu abanezifo ezinzulu zesibindi abangakwazi ukuphendula unyango bangadinga ukufakelwa kwesibindi .
> Imithombo:
> Borges Pinto, R .; Reis Schneider, A .; kunye ne-da Silveira, T. "I-cirrhosis kubantwana nakwishumi elivisayo: I-Overview." I-World Journal yeHepatology. 2015; 7 (): 392-405.
> Patil, M .; ISheth, K .; Krishnamurthy, A. et al. "Ukuphononongwa kunye nokujonga kwangoku kwi-Wilson Disease." Umbhalo we-Clinical and Experimental Hepatology. 2013; 3 (4): 321-336.