Isifo sikaWilson-Konovalov kubantu abadala

Esinye sezibonakaliso eziphawulekayo zalesi sifo ukuqoqwa kwe-pathological yethusi endaweni yezitho ezihlukahlukene, ukulimala kwezicubu, ikakhulukazi isibindi, izinkinga zesimiso sezinzwa, izinguquko ku-iris yeso.

Siyini isifo sikaWilson-Konovalov?

Igama elithi Isifo sikaWilson-Konovalov yi-pathology yofuzo. Kwenzeka lapho abazali bedlulisela isakhi sofuzo esinesici (ATP7B) enganeni yabo. Lesi simo sibhekisela kuma-autosomal recessive pathologies, okungukuthi, kwenzeka uma umzali ngamunye ephethe isakhi sofuzo esifanayo kumaseli abo futhi ingane ithola ifa kokubili ngesikhathi esisodwa - kumama nakuyise.

Lesi sakhi sofuzo esinesici sinikeza imiyalelo yokwenziwa kwephrotheni elawula ukushintshaniswa nokuthuthwa kwethusi ngaphakathi emzimbeni. Ngenxa yokukhubazeka kwayo, ithusi linqwabelana esibindini, ligxile kuyi-nerve ganglia, bese lifakwa ku-iris yeso. I-Pathology ayivamile, ngezinye izikhathi kunzima kakhulu ukuyibona, ikakhulukazi uma kungekho ziguli ezinjalo emndenini.

Izimbangela zesifo sikaWilson-Konovalov kubantu abadala

Inqubo eyinhloko kule pathology ifa lofuzo olunesici kubazali. Itholakala ku-chromosome ye-13 futhi ilawula i-copper metabolism.

Ngokwesilinganiso, umzimba wabantu abadala uqukethe cishe u-50-70 mg wethusi futhi awudingi ngaphezu kuka-2 mg wesici ngosuku, esivela ekudleni.

Ingxenye enkulu ye-microelement (95%) idluliswa ngokusondelene nephrotheni ye-plasma, i-ceruloplasmin. Yakheka njalo yisibindi, futhi cishe u-5% wethusi uhanjiswa kanye ne-albumin.

I-Copper iyadingeka ukuze ubambe iqhaza ezinqubweni ze-metabolic, kuhlanganise ne-oxidative. Uma isifo sikaWilson sikhula, ukuphuma kwayo kuphazamiseka, ukugxila ku-plasma kuyanda, kusukela lapho kusakazeka ezicutshini. Ukuqoqwa okuyinhloko kwethusi kwenzeka ebuchosheni, esifundeni se-iris, ngaphakathi kwesibindi, nasezinso. Ukweqisa kwe-microelement kunomphumela onobuthi.

Izimpawu zesifo sikaWilson-Konovalov kubantu abadala

Ukubonakaliswa okungenzeka kuhluke kakhulu. Ngokuvamile, isibindi sihlupheka (cishe ama-40 - 50% amacala), kanti kwezinye izimo, izilonda zezinzwa nezinkinga zengqondo zingaphawulwa. Ngokulimala kwesimiso sezinzwa kanye nombono, uphawu olujwayelekile luvela - ukubonakaliswa kwendandatho ye-Kaiser-Fleischer (kwenzeka ngenxa yokufakwa kwethusi ku-iris ngebala layo elithile elinsundu).

Esigabeni sesisu sesifo, izimpawu zivame ukuvela eduze neminyaka engama-40. Izici ezibalulekile zihlanganisa:

• ukuqina kwesibindi;
• i-hepatitis engapheli noma egcwele (fulminant).

Ebuntwaneni, ukuhlukahluka kwe-rigid-arrhythmohyperkinetic kwesifo kwenzeka kaningi. Iqala ngokuqina (ukubumbana, ukungathobeli kahle) kwemisipha, ukuphazamiseka kwesimo sobuso, ukuphazamiseka kwenkulumo, izinkinga zokwenza ukunyakaza okudinga amakhono amahle emoto, nokuncipha okuthile kobuhlakani. Lesi sifo siqhubeka kancane kancane, kanye nezikhathi zokukhula kanye nokuxolelwa.

Okuhlukile kokunyakazisa isifo sikaWilson kuvame ukuvela phakathi kweminyaka eyi-10 nengama-30 kuye kwengama-35. Kungase kube nezibonakaliso ezinjengokuqhaqhazela, ukuncipha kokunyakaza, ukukhubazeka kokukhuluma, isithuthwane, izinkinga zengqondo.

Uhlobo olungavamile lwalesi sifo yi-extrapyramidal-cortical disorders. Kufana nazo zonke izinhlobo, ngaphezu kwalokho kuzoba nokuquleka, izinkinga ezinzima zobuhlakani, ukuphazamiseka kokunyakaza.

Ukwelashwa kwesifo sikaWilson-Konovalov kubantu abadala

Ukuxilongwa kusenesikhathi kubalulekile ukuze uthole ukwelashwa okuphumelelayo. Lokhu akulula ngaso sonke isikhathi, ikakhulukazi ezimweni lapho kungekho khona izimpawu ezijwayelekile kanye nezilonda ze-iris ngokubonakala kwendandatho. Ngokuvamile, iziguli ziza kudokotela wezinzwa, i-gastroenterologist, noma inkinga itholwa yi-ophthalmologist.

Diagnostics

Uma sikhuluma ngokubonakaliswa kwezimpawu zamehlo, udokotela uqala uhlola isimo samehlo ngesibani esinqunyiwe ukuze aqinisekise ukuba khona kwendandatho ye-Kaiser-Fleischer.

Ukuqokwa kokuhlolwa kwe-biochemical kwegazi nomchamo kuboniswa, okuzobonisa okuqukethwe okwenyuka kwethusi emcinini kanye nokuhlushwa okuncishisiwe kwe-ceruloplasmin ku-plasma yegazi.

I-CT noma i-MRI izobonisa izinqubo ze-atrophic ebuchosheni nase-cerebellum, ukulimala kwe-basal nuclei.

Ukwengeza, ukubonisana nochwepheshe bezofuzo kanye nenani lokuhlolwa kofuzo okukhomba izakhi zofuzo ezinesici kuyenziwa.

Ukwelashwa kwesimanje

Indlela eyinhloko yokwelapha lesi sifo ukuqokwa kwezidakamizwa ze-thiol, ikakhulukazi i-unithiol noma i-D-penicillamine, i-cuprenil. Izidakamizwa zithathwa isikhathi eside, udokotela ukhetha umthamo ongcono kakhulu, ozogwema imiphumela emibi.

Ukwengeza, udokotela angase asebenzise izidakamizwa ezivela eqenjini le-neuroleptics, ngokuqina kwemisipha - i-levodopa noma i-carbidopa.

Ezimweni ezimbi kakhulu, ukufakelwa kwesibindi kanye nokwelashwa kwe-immunosuppressive kuboniswa. Kungenzeka ukusebenzisa i-biohemoperfusion nge-isolate yezinto eziphilayo zamangqamuzana e-spleen ngesibindi.

Ukwengeza, kuyadingeka ukulandela ukudla ngaphandle kokudla okuqukethe inani elikhulu lethusi.

Ukuvimbela isifo sikaWilson-Konovalov kubantu abadala ekhaya

"Ngokuvimbela i-pathology," usho kanje. udokotela wezinzwa u-Valentina Kuzmina, - kuyadingeka ukunamathela ekudleni No. 5, futhi futhi ukhawule ukudla kwethusi ku-1 g ngosuku - ungafaki amantongomane, izithelo ezomisiwe, ushokoledi, i-crayfish, amabhisikidi, ukolweni. Kunconywa futhi ukuthatha izidakamizwa zeqembu le-vitamin B6, i-unithiol, i-trientine.

Imibuzo nezimpendulo ezidumile

Sikhulume ngezinkinga zesifo sikaWilson-Konovalov, izinkinga zayo kanye nokwenzeka kokuzelapha udokotela wezinzwa u-Valentina Kuzmina.