Ingaba ulusu lomntwana wakho lubomvu kwaye ludumbile? Masifunde ngeKlippel-Trenaunay Syndrome (KTS)!

Ngaba wakha waphawula ukuba ezinye iintsana zizalwa zinebala elikhulu elibomvu kwelinye icala lomzimba wazo, ingakumbi engalweni okanye emlenzeni, kwaye loo ngalo/umlenze mkhulu kancinci kunelinye icala? Okanye ngamanye amaxesha unokubona imithambo ekwelo cala? Kuqhelekile ukuba uzive usoyika kancinci xa ubona into efana nale. Namhlanje siza kuthetha ngemeko ebonisa iimpawu ezifanayo, ezingaqhelekanga, oko kuthetha ukuba ayinguye wonke umntu onayo, kwaye uzalwa nayo. Oku kubizwa ngokuba yiKlippel-Trenaunay Syndrome (KTS) . Ungakhathazeki, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.

Yintoni iKlippel-Trenaunay Syndrome (KTS)? Ngamafutshane...

Khawucinge nje, i-KTS yimeko engaqhelekanga eza nomntwana wethu xa efika kweli hlabathi (oko kukuthi, imeko yokuzalwa ). Oku kubangela utshintsho oluncinci kwindlela ezikhula ngayo izicwili ezithambileyo zomntwana, amathambo, kunye nemithambo yegazi. Enye yeempawu eziphambili zoku kukubonakala kophawu lokuzalwa olumfusa-obomvu, oluhlala lukwingalo okanye emilenzeni, olubizwa ngokuba yi -'port-wine stain' . Rhoqo, abantu abane-KTS banazo iingxaki ezithile ngenkqubo yabo ye-lymphatic . Le nkqubo ye-lymphatic yinkqubo ebalulekileyo enceda ukugcina ulwelo lomzimba wethu lulungelelene.

Okwangoku akukho nyango lwe-KTS. Nangona kunjalo, musa ukoyika. Kukho unyango oluninzi olusebenzayo lokulawula iimpawu . Ukuba imeko ifunyaniswa kwaye inyangwa kwangethuba, njengasemva kokuba umntwana ezelwe, iingxaki zempilo ezinokubakho ngenxa ye-KTS zinokuncitshiswa kakhulu.

Abanye oogqirha babiza imeko ye-KTS ngokuthi yi-CLVM . Le yileta yokuqala yamagama amane esiNgesi.

• I-C imele iiCapillaries - le yimithambo yegazi emincinci edibanisa imithambo yethu kunye nemithambo yegazi.
• U-L umele inkqubo ye-Lymphatic - Le yinxalenye yenkqubo yethu yokuzikhusela komzimba. Ithwala ulwelo olubizwa ngokuba yi-lymph emzimbeni wonke.
• U-V umele imithambo yegazi - le yimithambo yegazi ethwala igazi iye entliziyweni yethu.
• Unobumba u-M umele iMalformation . Oku kuthetha ukuba inxalenye yomzimba ayikhuli ngendlela eqhelekileyo, okanye kukho ukukhubazeka.

I-KTS ithiywe ngoogqirha ababini baseFransi, uMaurice Klippel noPaul Trenaunay, abafumanisa esi sifo ngo-1900. Iingcali ziqikelela ukuba malunga nomntu omnye kwabayi-100,000 kwihlabathi liphela unesifo esinjalo. Sinokuchaphazela nabani na, kungakhathaliseki ukuba uluphi uhlanga okanye isini.

Zithini iimpawu ze-KTS? Uzibona njani?

Iimpawu zeKlippel-Trenaunay Syndrome (KTS) zichaphazela kakhulu imithambo yegazi, ii-capillaries, izicubu ezithambileyo, amathambo kunye nemithambo yegazi emzimbeni wethu. Makhe sibone ukuba njani:

1. Ukukhubazeka kweCapillary (CM):

Kulapho kuvela khona 'ibala le-port-wine' esilikhankanyileyo ngaphambili. Oku kubangelwa kukudumba kwee-capillaries ezingaphantsi kolusu lwethu. Ezi mpawu zokuzalwa zinokuba lolunye lweempawu zokuqala zokuba unokuba ne-KTS. Ezi mpawu zinokuza ngemibala eyahlukeneyo, ukusuka kupinki okhanyayo ukuya kumfusa omnyama (ubomvu-wewayini). Njengoko ukhula, ezi mpawu zinokuba njenge-blister, zikhanye, okanye zibe mnyama.

2. Ukukhubazeka kwemithambo yegazi (VM):

Phantse wonke umntu one-KTS uneengxaki zemithambo yegazi. Ezi zinokuchaphazela imithambo yegazi engaphezulu nje komphezulu wolusu, nto leyo ebangela imithambo yegazi evuvukileyo emilenzeni, ingakumbi emqolo nasemathangeni. Zinokuchaphazela nemithambo yegazi enzulu ebaleka nzulu emzimbeni. Oku kunokukhokelela ekuqhekekeni kwegazi kwimithambo yegazi enzulu (Deep Vein Thrombosis - DVT) . I-DVT yimeko eyingozi.

3. Ukukhula kakhulu kwezicubu ezithambileyo kunye namathambo:

Le yimeko apho, ukususela ebuntwaneni, ingalo okanye umlenze omnye uhlala ukhula kunomnye. Ngokuqhelekileyo, oku kuchaphazela ingalo okanye umlenze omnye kuphela, kwaye kudla ngokuchaphazela umlenze omnye kuphela. Ngamanye amaxesha umlenze omnye unokuba mde kunomnye. Oku kunokubangela ukulahlekelwa kukulinganisela, ubunzima bokuhamba, kunye nomgama olinganiselweyo wokuhamba.

4. Ukukhubazeka kweLymphatic (LM):

Abanye abantu abane-KTS banokuba nemithambo ye-lymph engaphezulu kwinkqubo yabo ye-lymphatic, okanye imithambo ye-lymph ekhoyo inokuba nemilo engaqhelekanga. Ngenxa yokuba le mithambo ye-lymph engaphezulu ayisebenzi kakuhle, ulwelo lwe-lymphatic lunokuvuza , okubangela ukudumba emilenzeni, ingakumbi ezinyaweni, okanye iingxaki kwi-pelvis, kwisinyi, okanye emathunjini asezantsi.

Yintoni ebangela i-KTS? Kutheni oku kusenzeka?

Ixesha elininzi, i-KTS ibangelwa kukwahluka kwe-gene ebizwa ngokuba yi-PIK3CA . Olu tshintsho lwe-genetic lwenzeka ngamaxesha athile, nto leyo ethetha ukuba akukho sizathu saziwayo. Aluzuzwanga kubazali . Oku kuthetha ukuba nokuba akukho mzali wayenayo i-KTS, umntwana unokuphuhlisa i-KTS ngenxa yolu tshintsho lwe-genetic.

Abanye abantu bane-KTS ngaphandle kolu tshintsho lwezakhi zofuzo lwe-PIK3CA. Ngenxa yoko, abaphandi bakholelwa ukuba i-KTS isenokuba ibangelwa kutshintsho kwezinye izakhi zofuzo ezininzi. Uphando ngale nto lusaqhubeka.

Ziziphi iingxaki ezinokubakho ze-KTS?

I-KTS inokubangela iingxaki ezahlukeneyo. Yiyo loo nto unyango olukhawulezileyo lubalulekile. Makhe sijonge ukuba zeziphi ezo ngxaki:

• Amahlwili egazi: Anokwenzeka, ingakumbi kwimithambo enzulu (DVT).
• I-Cellulitis: Olu luhlobo lwentsholongwane olubangelwa yintsholongwane oluvela phantsi kolusu.
• Ukuqokelelana kolwelo kunye nokudumba (iLymphedema): Kubangelwa kukungasebenzi kakuhle kwenkqubo ye-lymphatic.
• Ukopha ngaphakathi: Ukopha kunokwenzeka kwindlela yokugaya ukutya (GI), kwisinyi, okanye kwinkqubo yokuzala yabasetyhini.
• I-Pulmonary embolism: Le yimeko esongela ubomi apho ihlwili legazi elenzeka kwimithambo enzulu liqhekeka lize livale umthambo ohamba emaphashini.

Amaxesha amaninzi, abantu abane-KTS banokuba neziphene zokuzalwa ezandleni okanye ezinyaweni. Umzekelo:

• Ukuba neminwe eyongezelelweyo (i-Polydactyly)
• Iminwe inamathelene (ngeSyndactyly)

Ngaba i-KTS ibangela intlungu?

Ewe, i-KTS inokuba buhlungu.

• Imithambo ye-Varicose inokubangela ukurhawuzelelwa okanye iintlungu.
• Iingxaki zokujikeleza kwegazi zinokubangela ukudumba kunye nentlungu, ingakumbi kwimilenze esezantsi.
• Ukukhula kakhulu kwesitho somzimba, njengomlenze, kunokubangela ukuziva ubunzima kunye nentlungu kuloo mlenze.

Oogqirha bayixilonga njani i-KTS? (Ukuxilongwa)

Oogqirha baqala ngokuxilonga i-KTS ngokusekelwe kwiimpawu zomzimba. Kucingelwa ukuba i-KTS inengxaki ubuncinane kwiindawo ezimbini kwezi zintathu eziphambili esixoxe ngazo ngaphambili - ii-capillaries, imithambo yegazi, okanye uphuhliso lwamalungu. Ekubeni uninzi lweempawu ze-KTS zibonakala ekuzalweni, kusenokwenzeka ukuba uyixilonge i-KTS ngaphambi kokuba umntwana wakho aphume esibhedlele.

Zeziphi iimvavanyo ezisetyenziselwa ukuxilonga i-KTS?

Ngokuxhomekeke kwiimpawu, ugqirha angenza uvavanyo olufana nolu ukuqinisekisa imeko ngakumbi nokufumanisa ubungakanani bengxaki:

• Ii-CT scans okanye ii-MRI scans: Jonga imeko yezicubu ezithambileyo namathambo.
• I-Magnetic Resonance Angiogram (MR angiogram): Olu luvavanyo lwe-MRI olukhethekileyo olunokubona ngokucacileyo imeko yemithambo yegazi kunye nemithambo.
• I-Doppler ultrasound: Oku kunceda ukubona ukuhamba kwegazi ngemithambo yegazi kunye nemithambo yegazi.

Ziziphi iindlela zonyango ze-KTS?

Unyango lwe-Klippel-Trenaunay Syndrome (KTS) luyahluka ngokuxhomekeke kwiimpawu umntu ngamnye anazo.. Asinguye wonke umntu onikwa unyango olufanayo. Injongo ephambili yonyango kukulawula iimpawu nokunciphisa umngcipheko weengxaki. Makhe sibone ukuba zeziphi iindlela zonyango eziphambili:

• Amayeza okunciphisa igazi / ii-Anticoagulants: Umzekelo, amayeza afana neHeparin . La anciphisa umngcipheko wokuqhekeka kwegazi emilenzeni (DVT) kunye ne-pulmonary embolism.
• I-Sirolimus: Eli yeza lidla ngokusetyenziselwa ukuthintela umzimba ukuba ungalamkeli ilungu elitshaliweyo. Nangona kunjalo, kufunyenwe ukuba lithintela ukungasebenzi kakuhle kwemithambo yegazi ukuba ibe mandundu.
• Iikawusi zokucinezelwa: Ezi ziintlobo ezikhethekileyo zeekawusi ezinceda igazi libuyele entliziyweni lisuka emilenzeni. Oku kunokunceda ekunciphiseni ukudumba, iintlungu, kunye nomngcipheko wokuqhekeka kwegazi.
• Ukususwa kobushushu obungenamthungo: Oku kuquka ukusebenzisa amandla agxile ekuvaleni imithambo yegazi enengxaki ngaphakathi. Oku kwenziwa ngelixa imithambo isekhona. Oku kubangela ukuba ixesha lokuphola linciphe kwaye kunciphise iintlungu.
• Unyango nge-laser: Imisebe yamandla egxileyo neyomeleleyo ingasetyenziselwa ukutshabalalisa okanye ukususa izicwili ezingafunekiyo. Olu nyango nge-laser lusetyenziselwa ukukhanyisa umbala wophawu lokuzalwa 'lwe-port-wine stain'.
• Unyango lweSclerotherapy: Kule meko, isisombululo esikhethekileyo sifakwa ngqo kwimithambo enengxaki, kwii-capillaries, okanye kwimithambo ye-lymphatic. Emva koko imithambo iyavaleka. Olu lunyango olusebenzayo kakhulu kwimithambo ye-varicose.
• Ukuphakamisa izihlangu: Ukuba imilenze yakho ayilingani ngobude, ungabeka ukuphakamisa okuphezulu kwisihlangu esinye ukulungisa oku. Oku kunokunceda ekuthinteleni i-scoliosis .
• Utyando: Utyando lunokwenziwa ukulungisa iingxaki zemithambo yegazi kunye nokulinganisa ubude bemilenze. Okanye, utyando lunokwenziwa ukususa amafutha amaninzi okanye izicubu ukuze kuncitshiswe ubukhulu bengalo okanye umlenze okhule kakhulu. Amaxesha amaninzi, ukuba uzwane olukhulu ngokungaqhelekanga lwenza kube nzima ukunxiba izihlangu okanye ukuhamba, uzwane lunokususwa ngotyando.

Ngaba i-KTS ingathintelwa?

Ngelishwa, kuba i-KTS yenzeka ngequbuliso, akukho ndlela yokuthintela ukuba ingaphuhli . Nangona kunjalo, njengoko bekutshiwo ngaphambili, unyango olufanelekileyo lunokunceda abantu abane-KTS baphile ubomi obuphezulu.

Luhlobo luni lwekamva umntu one-KTS anokulilindela?

Nangona kungekho nyango lwe-KTS, iimpawu zinokulawulwa. Kwiimeko ezininzi, abantu abanale meko baphila ubomi obuqhelekileyo .

Nangona kunjalo, imbonakalo ye-KTS inokwahluka kumntu nomntu. Kuxhomekeke ekubeni ubuthathaka bemithambo yakho yegazi bubaluleke kangakanani. Oku kunokuba mandundu ngokuhamba kwexesha. Ke ngoko, ukuba ufumana ukopha kwe-GI, i-deep vein thrombosis, okanye i-pulmonary embolism , kufuneka ufune unyango ngokukhawuleza . Amahlwili egazi okanye ukopha kakhulu kunokuba yingozi.

Unyango nonyango oluqhelekileyo lunokunciphisa kakhulu umngcipheko weengxaki.

Ukuba ndine-KTS, ndingazinyamekela njani? / Ndingamnyamekela njani umntwana wam?

Ukuba wena okanye umntwana wakho une-KTS, qaphela ezi zinto zilandelayo:

• Lukhathalele kakuhle ulusu lwakho: Kubalulekile ukuthintela usulelo.
• Iindlela zokulawula ukuzalwa ngeehomoni ezine-estrogen azikhuthazwa ngokubanzi: Zinokunyusa umngcipheko wokuqhekeka kwegazi. Thetha nogqirha wakho ngale nto.
• Sela amayeza okuthintela ukuqhekeka kwegazi ngexesha lokukhulelwa: Ugqirha wakho uza kukunika iingcebiso ngale nto.
• Sela amayeza okunciphisa igazi ngaphambi kotyando: Nciphisa umngcipheko wokuqhekeka kwegazi.

Ndifanele ndimbone nini ugqirha?

Bona ugqirha wakho rhoqo ngexesha elithile ebomini bakho ukuze ahlolwe . Oku kuya kuvumela ugqirha wakho ukuba ajonge imeko yakho aze anyange naziphi na iingxaki ezintsha ezinokuvela. Ukuhlolwa rhoqo kuya kunceda ugqirha wakho abone ukuba unyango lwakho lusebenza kakuhle kangakanani aze enze utshintsho kwisicwangciso sakho sonyango ukuba kuyimfuneko.

Ndingaya nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Ukuba ucinga ukuba une-blood clot (umz., i-DVT, iimpawu ze-Pulmonary Embolism) okanye ukuba wopha kakhulu (ukopha kakhulu), kufuneka uye kwigumbi likaxakeka ngoko nangoko.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Ukuba wena okanye umntwana wakho une-KTS, ungabuza ugqirha wakho imibuzo efana nale:

• Zeziphi iindlela zonyango ezilungele mna/umntwana wam?
• Ndifanele ndiye kangaphi ukuze ndihlolwe?
• Ngenxa yemeko endikuyo ngoku, ungathini ngekamva lam (iprognosis/imbono)?

Ngaba i-KTS iyingozi ebomini?

I-KTS ngokwayo ayichaphazeli ngqo ixesha lokuphila. Nangona kunjalo, ezinye iingxaki ezinokubakho ngenxa ye-KTS, ezinje ngokopha kwangaphakathi okanye i-pulmonary embolism, zinokuba yingozi ebomini . Unyango oluqhelekileyo lwezi zinto zinobungozi lunokunciphisa umngcipheko weengxaki.

Ngaba i-KTS lukhubazeko?

Inokwenzeka loo nto. Ukuba awukwazi ukusebenza ngenxa yeengxaki ze-KTS, ezifana ne-deep vein thrombosis (DVT) okanye i-pulmonary embolism, ungafaneleka ukufumana izibonelelo zokukhubazeka. Ungafaneleka kwakhona ukufumana izibonelelo ezifana nethegi yokupaka yokukhubazeka kwiingxaki ezifana nobunzima bokuhamba ngenxa yokwanda kwamalungu omzimba.

Kunokuba nzima ukuqonda zonke iimpawu kunye neengxaki ze-KTS ngaxeshanye. Nangona kunjalo, ugqirha wakho unokukuchazela zonke aze akuncede unyange iingxaki zakho. Ungoyiki ukwazisa ugqirha wakho ngendlela oziva ngayo kunye nazo naziphi na iimpawu ezintsha ozifumanayo . Ukuthetha ngokukhululekileyo ngolu hlobo kuya kwenza kube lula ukucela uncedo ukuba uneengxaki.

Oko sifuna ukukuthatha kweli bali (Umyalezo Wokubuyela Ekhaya)

Kulungile, ngoko ke sithethe kakhulu nge-KTS, akunjalo? Nazi izinto ezimbalwa ekufuneka uzikhumbule:

• I-KTS yimeko engaqhelekanga, ezalwa nayo . Ngoko ke ungakhathazeki, awuwedwa.
• Iimpawu eziphambili luphawu lokuzalwa 'lwe-port-wine stain', ukwandiswa kwengalo/umlenze, kunye neengxaki zemithambo yegazi .
• Nangona kungekho nyango lupheleleyo loku, kukho unyango oluhle kakhulu lokulawula iimpawu .
• Kubaluleke kakhulu ukufumanisa isifo nokuqala unyango ngokukhawuleza .
• Kubalulekile ukufumana ulwalathiso lwezonyango rhoqo kunye nonyango oluyimfuneko ubomi bonke.
• Hlala unxibelelana kakuhle nogqirha wakho. Buza nayiphi na imibuzo onayo, kwaye umxelele indlela ovakalelwa ngayo.

Ndiyathemba ukuba olu lwazi lukuncede ukuba uqonde ngcono i-KTS. Ukuba wena okanye umntu omaziyo unezi mpawu, kungcono ukufuna ingcebiso kagqirha.

Isifo seKlippel -Trenaunay, i-KTS, ibala le-port-wine, uphawu lokuzalwa, ukungasebenzi kakuhle kwemithambo yegazi, inkqubo ye-lymphatic, ukukhula kakhulu kwamalungu, ingxaki yokuzalwa, uphawu lokuzalwa olubomvu, ukungasebenzi kakuhle kwamalungu omzimba, inkqubo ye-lymphatic, ukukhula kakhulu kwamalungu omzimba, isifo semfuza, i-CLVM