Ingabe isikhumba somntwana wakho sibomvu futhi sivuvukele? Ake sifunde nge-Klippel-Trenaunay Syndrome (KTS)!

Wake waphawula ukuthi ezinye izingane zizalwa zinophawu olukhulu olubomvu kolunye uhlangothi lomzimba wazo, ikakhulukazi engalweni noma emlenzeni, futhi ingalo/umlenze mkhulu kancane kunolunye uhlangothi? Noma ngezinye izikhathi ungabona imithambo kulolo hlangothi? Kuvamile ukuzizwa wesaba kancane uma ubona into efana nale. Namuhla sizokhuluma ngesimo esibonisa izimpawu ezifanayo, okuyinto engavamile, okusho ukuthi akuwona wonke umuntu ositholayo, futhi ozalwa naso. Lokhu kubizwa ngokuthi i-Klippel-Trenaunay Syndrome (KTS) . Ungakhathazeki, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Iyini i-Klippel-Trenaunay Syndrome (KTS)? Kalula nje...

Cabanga nje, i-KTS yisimo esingavamile esiza nomntwana wethu lapho efika kuleli zwe (okungukuthi, isimo sokuzalwa ). Lokhu kubangela izinguquko ezincane endleleni izicubu ezithambile zomntwana, amathambo, nemithambo yegazi yakhe ezikhula ngayo. Esinye sezibonakaliso eziyinhloko zalokhu ukubonakala kophawu lokuzalwa olubomvu onsomi, ngokuvamile engalweni noma emilenzeni, olubizwa ngokuthi 'i-port-wine stain' . Ngokuvamile, abantu abanale KTS nabo banezinkinga ezithile ngohlelo lwabo lwe-lymphatic . Lolu hlelo lwe-lymphatic luyisistimu ebalulekile esiza ukugcina uketshezi lomzimba wethu lulinganisela.

Okwamanje akukho ukwelashwa kwe-KTS. Kodwa-ke, ungesabi. Kunezindlela eziningi zokwelapha ezisebenzayo zokuphatha izimpawu . Uma lesi simo sitholakala futhi selashwa ngokushesha ngangokunokwenzeka, njengalapho umntwana ezelwe, izinkinga zempilo ezingabangelwa yi-KTS zingancishiswa kakhulu.

Abanye odokotela babiza isimo se-KTS ngokuthi i-CLVM . Lolu uhlamvu lokuqala lwamagama amane esiNgisi.

• I-C imele ama-Capillaries - lena yimithambo yegazi emincane exhumanisa imithambo yethu nemithambo yegazi.
• U-L umele uhlelo lwe-Lymphatic - Lokhu kuyingxenye yesimiso sethu sokuzivikela komzimba. Uthwala uketshezi olubizwa ngokuthi i-lymph emzimbeni wonke.
• U-V umele imithambo yegazi - lena yimithambo yegazi ethwala igazi liye ezinhliziyweni zethu.
• Uhlamvu M lumelela ukukhubazeka . Lusho ukuthi ingxenye yomzimba ayikhuli kahle, noma ukuthi kukhona ukukhubazeka.

I-KTS iqanjwe ngodokotela ababili baseFrance, uMaurice Klippel noPaul Trenaunay, abathola lesi simo ngo-1900. Ochwepheshe balinganisela ukuthi cishe umuntu oyedwa kwabayi-100,000 emhlabeni wonke unesifo salesi sifo. Singathinta noma ubani, kungakhathaliseki ukuthi ungowaluphi uhlanga noma ubulili.

Ziyini izimpawu ze-KTS? Uzibona kanjani?

Izimpawu ze-Klippel-Trenaunay Syndrome (KTS) zithinta kakhulu imithambo yegazi, ama-capillary, izicubu ezithambile, amathambo, kanye nemithambo ye-lymph emzimbeni wethu. Ake sibone ukuthi kanjani:

1. Ukukhubazeka Kwemithambo Yezinzwa (CM):

Yilapho-ke 'ibala le-port-wine' esikhulume ngalo ekuqaleni livela khona. Lokhu kubangelwa ukuvuvukala kwama-capillary ngaphansi kwesikhumba sethu. Lezi zimpawu zokuzalwa zingaba esinye sezibonakaliso zokuqala zokuthi ungaba ne-KTS. Lezi zimpawu zingaba ngemibala ehlukahlukene, kusukela kopinki okhanyayo kuya konsomi omnyama (obomvu-wewayini). Njengoba ukhula, lezi zimpawu zingaba njenge-blister, zikhanye, noma zibe mnyama.

2. Ukukhubazeka Kwemithambo (VM):

Cishe wonke umuntu one-KTS unezinkinga zemithambo yegazi. Lokhu kungathinta imithambo yegazi engenhla nje kobuso besikhumba, okubangela imithambo yegazi evuvukalayo emilenzeni, ikakhulukazi embotsheni nasemathangeni. Kungathinta nemithambo yegazi ejule kakhulu emzimbeni. Lokhu kungaholela ekuqhekekeni kwegazi emithanjeni yegazi ejule kakhulu (i-Deep Vein Thrombosis - DVT) . I-DVT iyisimo esiyingozi.

3. Izicubu ezithambile kanye nokukhula ngokweqile kwamathambo:

Lesi yisimo lapho, kusukela ebuntwaneni, ingalo noma umlenze owodwa uvame ukukhula kunomunye. Ngokuvamile, lokhu kuthinta ingalo noma umlenze owodwa kuphela, futhi ngokuvamile umlenze owodwa kuphela. Ngezinye izikhathi umlenze owodwa ungase ube mude kunomunye. Lokhu kungabangela ukulahlekelwa ibhalansi, ubunzima bokuhamba, kanye nokunyakaza okulinganiselwe.

4. Ukukhubazeka Kwe-Lymphatic (LM):

Abanye abantu abane-KTS bangase babe nemithambo ye-lymph eyengeziwe ohlelweni lwabo lwe-lymphatic, noma imithambo ye-lymph ekhona ingase ibe nesimo esingajwayelekile. Ngenxa yokuthi le mithambo ye-lymph eyengeziwe ayisebenzi kahle, uketshezi lwe-lymphatic lungavuza , okubangela ukuvuvukala emilenzeni, ikakhulukazi ezinyaweni, noma izinkinga e-pelvis, esinyeni, noma emathunjini angezansi.

Yini ebangela i-KTS? Kungani lokhu kwenzeka?

Esikhathini esiningi, i-KTS ibangelwa ukushintshashintsha kwezakhi zofuzo okuthiwa i-PIK3CA . Lokhu kuguquka kwezakhi zofuzo kwenzeka ngezikhathi ezithile, okusho ukuthi akukho mbangela eyaziwayo. Akuzuzwa njengefa kubazali . Lokhu kusho ukuthi noma ngabe akekho kubazali owayenayo i-KTS, ingane ingahlakulela i-KTS ngenxa yalokhu kuguquka kwezakhi zofuzo.

Abanye abantu bane-KTS ngaphandle kwalokhu kuguqulwa kwezakhi zofuzo ze-PIK3CA. Ngakho-ke, abacwaningi bakholelwa ukuthi i-KTS ingase ibangelwe ukuguqulwa kwezakhi zofuzo kwezinye izakhi zofuzo eziningana. Ucwaningo ngalokhu lusaqhubeka.

Yiziphi izinkinga ezingaba khona ze-KTS?

I-KTS ingadala izinkinga ezahlukahlukene. Yingakho ukwelashwa okusheshayo kubalulekile. Ake sibheke ukuthi yiziphi lezo zinkinga:

• Amahlule egazi: Kungenzeka, ikakhulukazi emithanjeni ejulile (DVT).
• I-cellulitis: Lokhu ukutheleleka ngamagciwane okwenzeka ngaphansi kwesikhumba.
• Ukuqongelela nokuvuvukala koketshezi (i-Lymphedema): Kubangelwa ukusebenza kabi kohlelo lwe-lymphatic.
• Ukopha kwangaphakathi: Ukopha kungenzeka emgudwini wesisu (GI), esinyeni, noma ohlelweni lokuzala lwabesifazane.
• I-Pulmonary embolism: Lesi yisimo esisongela impilo lapho ihlule legazi elakheka emithanjeni ejulile liphuka khona futhi livimbe umthambo emaphashini.

Akuvamile kakhulu ukuthi abantu abane-KTS bangaba nezinkinga zokuzalwa ezandleni noma ezinyaweni. Isibonelo:

• Ukuba neminwe eyengeziwe (i-Polydactyly)
• Iminwe inamathele ndawonye (nge-Syndactyly)

Ingabe i-KTS ibangela ubuhlungu?

Yebo, i-KTS ingaba buhlungu.

• Imithambo ye-Varicose ingabangela ukulunywa noma ubuhlungu.
• Izinkinga zokujikeleza kwegazi zingabangela ukuvuvukala nobuhlungu, ikakhulukazi emilenzeni engezansi.
• Ukukhula ngokweqile kwesitho somzimba, njengomlenze, kungabangela umuzwa wokusinda nobuhlungu kulowo mlenze.

Odokotela bayixilonga kanjani i-KTS? (Ukuxilongwa)

Odokotela baqala ngokuxilonga i-KTS ngokusekelwe ezimpawini zomzimba. Kusolwa ukuthi i-KTS inenkinga okungenani ezindaweni ezimbili kwezithathu eziyinhloko esixoxe ngazo ngaphambili — ama-capillary, imithambo yegazi, noma ukukhula kwezitho zomzimba. Njengoba izimpawu eziningi ze-KTS zibonakala ekuzalweni, kungenzeka ukuthi uxilonge i-KTS ngaphambi kokuba ingane yakho iphume esibhedlela.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga i-KTS?

Kuye ngezimpawu, udokotela angenza izivivinyo ezinjengalezi ukuze aqinisekise isimo futhi anqume ubukhulu benkinga:

• Ukuskena kwe-CT noma ukuskena kwe-MRI: Bheka isimo sezicubu ezithambile namathambo.
• I-Magnetic Resonance Angiogram (MR angiogram): Lolu uhlobo olukhethekile lwe-MRI olukwazi ukubona kahle isimo semithambo yegazi nemithambo yegazi.
• I-Doppler ultrasound: Lokhu kusiza ukubona ukugeleza kwegazi emithanjeni nasemithanjeni.

Yiziphi izindlela zokwelapha i-KTS?

Ukwelashwa kwe-Klippel-Trenaunay Syndrome (KTS) kuyahlukahluka kuye ngezimpawu umuntu ngamunye anazo.Akuwona wonke umuntu onikezwa ukwelashwa okufanayo. Umgomo oyinhloko wokwelashwa ukulawula izimpawu nokunciphisa ingozi yezinkinga. Ake sibone ukuthi yiziphi izindlela zokwelapha eziyinhloko:

• Imithi yokunciphisa igazi / Ama-anticoagulant: Isibonelo, imithi efana ne -Heparin . Le mithi inciphisa ingozi yokuqhekeka kwegazi emilenzeni (i-DVT) kanye ne-pulmonary embolism.
• I-Sirolimus: Lo muthi uvame ukusetshenziselwa ukuvimba umzimba ukuthi wenqabe isitho esitshaliwe. Kodwa-ke, kutholakale ukuthi uvimbela ukukhubazeka kwemithambo yegazi ukuthi kube kubi kakhulu.
• Amasokisi okucindezela: Lezi izinhlobo ezikhethekile zamasokisi ezisiza igazi libuyele emuva lisuka emilenzeni liye enhliziyweni. Lokhu kungasiza ekunciphiseni ukuvuvukala, ubuhlungu, kanye nengozi yokuqhekeka kwegazi.
• Ukususwa kokushisa okungaphakathi: Lokhu kuhilela ukusebenzisa imisebe yamandla egxilile ukuvala imithambo yegazi enenkinga ngaphakathi. Lokhu kwenziwa ngenkathi imithambo isekhona. Lokhu kuphumela esikhathini esincane sokululama kanye nobuhlungu obuncane.
• Ukwelashwa nge-laser: Imisebe yamandla eqinile negxilile ingasetshenziswa ukubhubhisa noma ukususa izicubu ezingafuneki. Lokhu kwelashwa nge-laser kusetshenziselwa ukukhanyisa umbala wophawu lokuzalwa 'lwe-port-wine stain'.
• Ukwelashwa nge-Sclerotherapy: Kulokhu, ikhambi elikhethekile lifakwa ngqo emithanjeni enenkinga, kuma-capillary, noma emithanjeni ye-lymphatic. Imithambo bese ivaleka. Lokhu kuyindlela yokwelapha ephumelela kakhulu yemithambo ye-varicose.
• Ukuphakamisa izicathulo: Uma imilenze yakho ingalingani ngobude, ungafaka ukuphakamisa okuphezulu esicathulweni esisodwa ukuze ulungise lokhu. Lokhu kungasiza futhi ekuvimbeleni i-scoliosis .
• Ukuhlinzwa: Ukuhlinzwa kungenziwa ukuze kulungiswe izinkinga zemithambo yegazi nokulinganisa ubude bemilenze. Noma, ukuhlinzwa kungenziwa ukuze kususwe amafutha noma izicubu eziningi ukuze kuncishiswe usayizi wengalo noma umlenze okhule kakhulu. Akuvamile, uma uzwane olukhulu ngendlela engavamile lwenza kube nzima ukugqoka izicathulo noma ukuhamba, uzwane lungasuswa ngokuhlinzwa.

Ingabe i-KTS ingavinjelwa?

Ngeshwa, ngenxa yokuthi i-KTS yenzeka ngokungahleliwe, ayikho indlela yokuyivimbela ukuthi ingakhuli . Kodwa-ke, njengoba kushiwo ngaphambili, ukwelashwa okufanele kungasiza abantu abane-KTS ukuba baphile impilo esezingeni eliphezulu.

Hlobo luni lwekusasa umuntu one-KTS angalulindela?

Nakuba kungekho ukwelashwa kwe-KTS, izimpawu zingalawulwa. Ezimweni eziningi, abantu abanalesi simo baphila impilo ejwayelekile .

Kodwa-ke, umbono we-KTS ungahluka kuye ngomuntu nomuntu. Kuye ngokuthi ukukhubazeka kwemithambo yakho yegazi kukhulu kangakanani. Lokhu kungaba kubi kakhulu ngokuhamba kwesikhathi. Ngakho-ke, uma uthola ukopha kwe-GI, i-deep vein thrombosis, noma i-pulmonary embolism , kufanele ufune usizo lwezokwelapha ngokushesha . Amahlule egazi noma ukopha ngokweqile kungaba yingozi.

Iseluleko sezokwelapha njalo kanye nokwelashwa kunganciphisa kakhulu ingozi yezinkinga.

Uma ngine-KTS, ngizinakekela kanjani? / Ngingayinakekela kanjani ingane yami?

Uma wena noma ingane yakho ine-KTS, qaphela lezi zinto:

• Nakekela isikhumba sakho kahle: Kubalulekile ukuvimbela izifo.
• Izindlela zokuvimbela inzalo zama-hormone eziqukethe i-estrogen ngokuvamile azinconywa: Zingandisa ingozi yokuqhekeka kwegazi. Khuluma nodokotela wakho ngalokhu.
• Phuza imithi yokuvimbela ukuqhekeka kwegazi ngesikhathi sokukhulelwa: Udokotela wakho uzokweluleka ngalokhu.
• Thatha imithi yokunciphisa igazi ngaphambi kokuhlinzwa: Nciphisa ingozi yokuqhekeka kwegazi.

Kufanele ngimbone nini udokotela?

Bona udokotela wakho ngezikhathi ezithile empilweni yakho yonke ukuze ahlolwe . Lokhu kuzovumela udokotela wakho ukuthi aqaphe isimo sakho futhi elaphe noma yiziphi izinkinga ezintsha ezingase zivele. Ukuhlolwa njalo kuzosiza udokotela wakho ukuthi abone ukuthi ukwelashwa kwakho kusebenza kahle kangakanani futhi enze izinguquko ohlelweni lwakho lokwelashwa uma kudingeka.

Kufanele ngiye nini e-Emergency Treatment Unit (ETU) ?

Uma ucabanga ukuthi une-blood clot (isib. i-DVT, izimpawu ze-Pulmonary Embolism) noma uma wopha kakhulu (ukopha okukhulu), kufanele uye ekamelweni lezimo eziphuthumayo ngokushesha.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma wena noma ingane yakho ine-KTS, ungase ufune ukubuza udokotela wakho imibuzo efana nalokhu:

• Yikuphi ukwelashwa okungcono kakhulu kimi/enganeni yami?
• Kufanele ngize kangaki ukuzohlolwa?
• Uma ubheka isimo sami samanje, ungathini ngekusasa lami (isibikezelo/umbono)?

Ingabe i-KTS isongela ukuphila?

I-KTS ngokwayo ayithinti ngqo isikhathi sokuphila. Kodwa-ke, ezinye izinkinga ezingase zenzeke ngenxa ye-KTS, njengokuphuma kwegazi kwangaphakathi noma i-pulmonary embolism, zingaba yingozi empilweni . Ukwelashwa njalo kwalezi zici eziyingozi kunganciphisa ingozi yezinkinga.

Ingabe i-KTS iwukukhubazeka?

Kungenzeka. Uma ungakwazi ukusebenza ngenxa yezinkinga ze-KTS, njenge-deep vein thrombosis (DVT) noma i-pulmonary embolism, ungase ufanelekele izinzuzo zokukhubazeka. Ungase ufanelekele nezinzuzo ezifana nethegi yokupaka yokukhubazeka yezinkinga ezifana nobunzima bokuhamba ngenxa yokukhula kwezitho zomzimba.

Kungaba nzima ukuqonda zonke izimpawu nezinkinga ze-KTS ngesikhathi esisodwa. Kodwa-ke, udokotela wakho angakuchazela zonke futhi akusize welaphe izinkinga zakho. Ungesabi ukwazisa udokotela wakho ngendlela ozizwa ngayo kanye nanoma yiziphi izimpawu ezintsha ozizwayo . Ukukhuluma ngokukhululekile kanje kuzokwenza kube lula ukucela usizo uma unezinkinga.

Lokho esifuna ukukuthatha ekhaya kule ndaba (Umyalezo Wokuya Ekhaya)

Kulungile, ngakho-ke sesikhulume kakhulu nge-KTS, akunjalo? Nazi izinto ezimbalwa okufanele uzikhumbule:

• I-KTS yisifo esingavamile, esizalwa naso . Ngakho ungakhathazeki, awuwedwa.
• Izimpawu eziyinhloko uphawu lokuzalwa 'lwe-port-wine stain', izinkinga ezinkulu zengalo/umlenze kanye nemithambo yegazi .
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha ezinhle kakhulu zokulawula izimpawu .
• Kubaluleke kakhulu ukuxilonga lesi sifo bese uqala ukwelashwa ngokushesha okukhulu .
• Kubalulekile ukuthola ukubhekwa njalo kwezokwelapha kanye nokwelashwa okudingekayo impilo yonke.
• Hlala uxhumana kahle nodokotela wakho. Buza noma yimiphi imibuzo onayo, bese umtshela ukuthi uzizwa kanjani.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde kangcono i-KTS. Uma wena noma othile omaziyo enalezi zimpawu, kungcono ukufuna iseluleko sezokwelapha.

Isifo se - Klippel-Trenaunay, i-KTS, ibala le-port-wine, uphawu lokuzalwa, ukukhubazeka kwemithambo yegazi, uhlelo lwe-lymphatic, ukukhula ngokweqile kwezitho, ukuphazamiseka kokuzalwa, uphawu lokuzalwa olubomvu, ukukhubazeka kwemithambo yegazi, uhlelo lwe-lymphatic, ukukhula ngokweqile kwezitho, isifo sofuzo, i-CLVM