Klippel-Trénaunay

I-Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome — ebizwa nangokuthi i-KTS — yisifo esingavamile esitholakala ngesikhathi sokuzalwa (esizalwa naso) esibandakanya izinkinga ekuthuthukiseni kwezinye izitho zegazi, izicubu ezithambile (njengolusu nemisipha), amathambo, futhi ngezinye izikhathi isimiso le-lymphatic. Izici eziyinhloko zihlanganisa uphawu olukhulu olufana newayini (port-wine stain), oluvela emibalabala ebomvu kuya emibalabala ebomvu-luhlaza okwesibhakabhaka, ukuthuthukiswa okungavamile kwezinsimbi zegazi noma i-lymphatic (ukungabi nalutho), nokukhula okukhulu kwezicubu namathambo. Lezi zinto zivame ukubandakanya umlenze owodwa kodwa zingase zenzeke engalweni noma kwenye indawo. Nakuba ayikho imithi yokwelapha i-KTS, imigomo yokwelapha iwukuthuthukisa izimpawu nokuvimbela ukuphazamiseka.

Abantu abane-KTS bangaba nezici ezilandelayo, ezingaba ukusuka kokude okuncane kuya kokubanzi kakhulu: I-Port-wine stain. Leli khaza elipinki kuya elibomvu-luhlaza okwesibhakabhaka lidalwa yizicubu ezincane zegazi (ama-capillaries) ezingaphezulu kwesikhumba. Leli khaza lihlala lihlanganisa ingxenye yomlenze munye kodwa lingahlanganisa noma yisiphi isigaba sesikhumba. Lingaba mnyama noma lukhanya ngokwanda kweminyaka. Ukuphazamiseka kwezinsimbi. Lokhu kuhlanganisa izinsimbi ezivuvukile, ezisontekile (izinsimbi ze-varicose), ngokuvamile ezingaphezulu kwemilenze. Izinsimbi ezihlwempuzekile ezijulile ezandleni, emilenzeni, esiswini nase-pelvis nazo zingase zenzeke. Kungase kube khona ithishu eyondile egcwele izinsimbi ezincane ngaphakathi noma ngaphansi kwesikhumba. Izinsimbi ezihlwempuzekile zingase zibe phambili ngokwanda kweminyaka. Ukukhula okukhulu kwama-bone nethishu e-soft. Lokhu kuqala ebuntwaneni futhi kungase kuhlukaniswe ngomlenze munye, kodwa kungase kwenzeke engalweni noma, ngokungavamile, emzimbeni noma ebusweni. Lokhu kukhula okukhulu kwamathambo nethishu kudala ubude obukhulu nobude. Ngokungavamile, kungase kube khona ukuhlanganiswa kweminwe noma iminwe noma iminwe eyengeziwe noma iminwe. Ukuphazamiseka kwe-lymphatic system. I-lymphatic system - ingxenye yesistimu yokulwa nezifo esivikelekile ekuthelelekeni nasezifweni futhi ithwala i-lymphatic fluid - ingase ihlwempuzeke. Izicubu ezingeziwe ze-lymphatic zingase zibe khona ezingasebenzi kahle futhi zingase ziholele ekubalekeni kwe-fluid ezihlabathini nasekuvuvukeni. ezinye izimo. I-KTS ingase ihlanganise ama-cataracts, i-glaucoma, ukukhishwa kwe-hip ekuzalweni, ukubomvu okubomvu kwesikhumba uma kubanda nezingxaki zokugqwala kwegazi. I-KTS ivame ukubonakala ekuzalweni. Kubalulekile ukuthola ukuxilongwa okusheshayo, okuchane kanye nokunakekelwa okufanele ukuze kuphathwe izimpawu futhi kuvinjelwe ukuphazamiseka.

I-KTS ivame ukubonakala ngesikhathi sokuzalwa. Kubalulekile ukuthola ukuxilongwa okusheshayo, okunembile nokunakekelwa okufanele ukuze kuphathwe izimpawu futhi kuvinjelwe izinkinga.

I-KTS yisifo esibangelwa yi-gene. Ihilela ukuguquka kwe-gene (ukuguqulwa), ikakhulukazi ku-gene i-PIK3CA. Le gene inomthwalo wemfanelo wokukhula kwamaseli nokukhula kwamanye amalungu emzimbeni. Ukuguquka kule gene kubangela ukukhula okukhulu kwamanye amalungu. I-KTS ayidluliselwa ngokuzalwa. Ukuguquka kwe-gene kwenzeka ngokungahleliwe phakathi kokwahlukaniswa kwamaseli ekuqaleni kokukhula ngaphambi kokuzalwa.

Umlando womndeni awubonakali uyingozi, ngakho-ke akunakwenzeka ukuba abazali bomntwana oyedwa one-KTS babe nomntwana omunye onalesi sifo, ngisho noma omunye wabazali enesifo se-KTS.

Izinkinga ze-KTS zingabangelwa ukumelana okungajwayelekile kwezitho zegazi, izicubu ezithambile, amathambo kanye nesistimu ye-lymphatic. Lezi zingafaka: Izinkinga ze-port-wine stain. Amanye ama-eza e-port-wine stain angaqina ngokuhamba kwesikhathi futhi angakha amabhubhu (ama-blebs) asekhaya ekopha nasekuqaleni kwezifo. Izilonda zesikhumba nokuphulukiswa okubi kwezindawo eziqotshiwe kungase kwenzeke. Ukungasebenzi kahle kwezinsimbi. Izicubu zezinsimbi zingabangela ubuhlungu nezilonda zesikhumba ngenxa yokungasebenzi kahle kwegazi. Izicubu zezinsimbi ezingaphakathi zingandisa ingozi yeziqephu zegazi (i-deep vein thrombosis) futhi zibangele isimo esiyingozi esibizwa ngokuthi yi-pulmonary embolism uma iziqephu zikhishwa ziye emaphashini. Ukungasebenzi kahle kwezinsimbi ezi-pelvis nasezithongweni zesisu kungabangela ukuphuza kwegazi. Izicubu zezinsimbi ezingaphezulu zingathuthukisa iziqephu ezingekho emkhatsini kodwa ezibuhlungu nokuvuvukala (i-superficial thrombophlebitis). Ukukhula okukhulu kwamathambo nezicubu ezithambile. Ukukhula okukhulu kwamathambo nezicubu kungabangela ubuhlungu, umuzwa wokukhuluphala, ukukhula kwamagxa nezinkinga zokunyakaza. Ukukhula okukhulu okubangela ukuba umlenze munye ube mde kunomunye kungabangela izinkinga zokuhamba futhi kungabangela izinkinga ze-hip neze-back. Ukungasebenzi kahle kwesistimu ye-lymphatic. Ukungasebenzi kahle kwesistimu ye-lymphatic kungabangela ukuqongelela kwezinto ezingaphezulu nokuvuvukala ezicubwini zezandla noma imilenze (i-lymphedema), ukuphazamiseka kwesikhumba nezilonda zesikhumba, ukuvuza kwe-lymphatic fluid, noma ukutheleleka kwezinto ezingaphansi kwesikhumba (i-cellulitis). Ubuhlungu obuhlala njalo. Ubuhlungu bungaba yinkinga evamile ephuma ezinkingeni ezinjengokutheleleka, ukuvuvukala, ukubandakanyeka kwamathambo noma izinkinga zezinsimbi.

Ukuxilongwa kwe-Klippel-Trenaunay syndrome kuqala ngokuhlolwa komzimba. Ukuthunyelwa kudokotela ochwepheshe ekwelapheni kwezinkinga zezinsimbi zegazi kubalulekile ekubhekeni nasekutholeni izindlela zokwelapha. Phakathi kokuhlolwa, umhlinzeki wakho wezempilo: Ubuza imibuzo mayelana nomlando wakho womndeni nowempilo Uyakuhlola ukuze abone ukukhula, imithambo yegazi ebonakalayo kanye namabala omvini obomvu Uhlola ngeso ukukhula kwamafu nomalunga Izivivinyo eziningi zokuxilonga zingasiza udokotela wakho ukuthi ahlole futhi athole uhlobo nobunzima besimo bese akusize unqume ukwelashwa. Ezinye izivivinyo zihlanganisa: Ukucubungula kwe-duplex ultrasound. Lo mkhuba usebenzisa amaza omsindo aphezulu ukuze adale izithombe ezinemininingwane yemithambo yegazi nokugeleza kwegazi. I-MRI ne-magnetic resonance (MR) angiography. Lezi zinqubo zisiza ukwahlukanisa phakathi gathambama, amafutha, imisipha nemithambo yegazi futhi zingabonisa ukungapheleli. I-Scanogram. Ebizwa nangokuthi isithombe se-scanner, le ndlela ye-X-ray idala izithombe zamafu futhi isisiza ukulinganisa ubude bazo. I-CT scan noma i-CT angiography. I-CT scan idala izithombe ze-3D zomzimba ezisiza ukubonisa iziqubu zegazi ezinsimini. I-Contrast venography. Le nqubo ihilela ukufaka umbala ezinsimini futhi ithathe izithombe ze-X-ray ezingabonisa imithambo yegazi engavamile, ukuvinjwa noma iziqubu zegazi. Izifundo zokugqwala kwegazi. Lezi zivivinyo zingasiza ekuhlolweni kokugqwala kwegazi. Izifundo ze-genetic. Lezi zivivinyo zingabonisa iphethini ebonakalayo yokwehluka kwe-gene (isayini ye-gene) engachaza ukuthi kungani lesi simo senzeke. Ukunakekelwa eMayo Clinic Iqembu lethu lochwepheshe abakhathalelayo baseMayo Clinic lingakusiza ngezinkinga zakho zempilo ezihlobene ne-Klippel-Trenaunay syndrome Qala Lapha

Nakuba kungekho ukwelashwa kwe-KTS, udokotela wakho angakusiza ukuthi uphathe izimpawu futhi uvikele ukuphazamiseka. Ngenxa yokuthi i-KTS ingathinta izinhlelo eziningi emzimbeni, iqembu lakho lokunakekelwa kwezempilo lingafaka ochwepheshe bezokwelapha izingxilizi nokuhlinzwa, izifo zesikhumba (i-dermatology), i-radiology yokungenelela, ukuhlinzwa kwe-orthopedic, ukuqeqeshwa komzimba nokubuyiselwa, nezinye izindawo njengoba kudingeka. Wena nodokotela wakho ningasebenzisana ukuze nicabange ukuthi yikuphi kulawona ukwelashwa okulandelayo okuyihambelanayo nawe. Ukwelashwa kungafaka: Ukwelashwa kokucindezela. Izibopho noma izingubo ze-elastic ziqoshwe ezingalweni ezibuhlungu ukuze kusize ukuvimbela ukukhula, izinkinga ze-varicose veins nezihlamba zesikhumba. Lezi zibopho noma izingubo ze-elastic zivame ukudinga ukulungiswa ngokwezifiso. Amadivayisi okucindezela okungapheli komoya - izingubo zezinyawo noma izingalo ezifutha futhi ziqede ngokuzenzakalelayo ngezikhathi ezimisiwe - angase asebenziswe. Ukukhathalela isikhumba. Ukuhlanzeka kwesikhumba selunga elibuhlungu kunganciphisa ingozi yokutheleleka futhi kube yingxenye yokwelapha ukuphuza igazi olukhulu. Ukuqeqeshwa komzimba. Ukumunca, ukucindezela nokunyakaza kwelunga njengoba kufanele kungasiza ekuqedeni i-lymphedema ezingalweni noma ezinyaweni nokukhula kwezitho zegazi. Amadivayisi e-orthopedic. Lokhu kungafaka izicathulo ze-orthopedic noma izifaki zezicathulo ukuze kuhlanganiswe ukungafani nobude bezinyawo. I-Epiphysiodesis (ep-ih-fiz-e-OD-uh-sis). Lena inqubo yokwelapha ye-orthopedic eyingqayizivele engayekisa ukukhula okukhulu kwelunga eliphansi. I-Embolization. Le nqubo, eyenziwa ngezicathulu ezincane ezibekwe ezinhlungwini noma ezihlathini, ivala ukugeleza kwegazi kwezinye izitho zegazi. Ukwelashwa kwe-Laser. Le nqubo ingasetshenziswa ukususa noma ukukhanyisa amabala ewayini e-port kanye nokwelapha ukopha nokuphuza igazi okuphuma ezihlahleni zesikhumba. Ukukhipha i-laser noma i-radiofrequency yezinyawo. Le nqubo encane yokungenelela isetshenziswa ukuvala izingxilizi ezingalungile. I-MR-guided ablation. Izitho zegazi ziqeqeshwa nge-laser noma i-cautery ngaphansi kokunqoba kwe-MRI. I-Sclerotherapy. Isisombululo siqoshwe esithweni, esenza i-scar tissue esiza ukuvala isicubu. Ukuhlinzwa. Kwezinye izimo, ukususa noma ukwakhiwa kabusha kwezinyawo ezibuhlungu, ukususa insimbi engaphezulu, nokulungisa ukukhula okukhulu kwamathambo kungaba usizo. Imithi. Abanye abantu baye bazuza emithini yomlomo engasiza ekuqeqeshweni kwezinkinga eziphezulu zegazi ne-lymphatic ezibangela izimpawu. Kodwa-ke le miyeke ingaba nemiphumela emibi ebalulekile edinga ukulandelelwa. I-Topical sirolimus ingasiza ekuqedeni izimpawu zezinkinga eziphezulu zegazi. Izifundo ziyaqhubeka ukuze kuqondwe ukusebenza nokuphepha kwale miyeke kubantu abane-KTS. Ngaphezu kwalokho, ukwelashwa kungadingeka ngenxa yokuphazamiseka okunjengokuphuza igazi, ukutheleleka, ama-blood clots noma izihlamba zesikhumba. Ukukhathalela okukhethekile kungadingeka ngesikhathi sokukhulelwa ukuvimbela ukuphazamiseka. Cela i-aphoyintimenti

Ukuphila noKTS kungaba inselele. Amaqembu wokusekela nokuvukela angakunika uxhumano nabanye abantu abaneKTS. Iqembu Lokusekela le-K-T nezinye izinhlangano zinikeza izinto zokufunda, izinsiza nolwazi mayelana nokuthintana nabanye. Buza udokotela wakho uma kukhona iqembu lokusekela endaweni yangakini. Ukukhuluma nodokotela wezengqondo, uchwepheshe wezempilo yengqondo noma omunye ochwepheshe wezempilo yengqondo kungasiza abantu abaningi abaneKTS.