Ua ʻulaʻula a pehu paha ka ʻili o kāu pēpē? E aʻo kākou e pili ana i ka Klippel-Trenaunay Syndrome (KTS)!

Ua ʻike anei ʻoe ua hānau ʻia kekahi mau pēpē me kahi hōʻailona hānau ʻulaʻula nui ma kekahi ʻaoʻao o ko lākou kino, ʻoi aku hoʻi ma ka lima a i ʻole ka wāwae, a ʻoi aku ka nui o kēlā lima/wāwae ma mua o kēlā ʻaoʻao? A i ʻole i kekahi manawa hiki iā ʻoe ke ʻike i nā aa koko ma kēlā ʻaoʻao? He mea maʻamau ke manaʻo iki i ka makaʻu ke ʻike ʻoe i kahi mea e like me kēia. I kēia lā e kamaʻilio mākou e pili ana i kahi kūlana e hōʻike ana i nā hōʻailona like, he mea kakaikahi iki ia, ʻo ia hoʻi, ʻaʻole i loaʻa i nā kānaka a pau, a he hānau ʻia. Ua kapa ʻia kēia ʻo Klippel-Trenaunay Syndrome (KTS) . Mai hopohopo, e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka Klippel-Trenaunay Syndrome (KTS)? I ka pōkole...

E noʻonoʻo, he maʻi laha ʻole ʻo KTS e hele mai me kā mākou pēpē i kona wā e hānau mai ai i kēia ao (ʻo ia hoʻi, he maʻi hānau mua ). Hoʻoulu kēia i kekahi mau loli liʻiliʻi i ke ʻano o ka ulu ʻana o nā ʻiʻo palupalu o ka pēpē, nā iwi, a me nā kīʻaha koko. ʻO kekahi o nā hōʻailona nui o kēia, ʻo ia ka ʻike ʻia ʻana o kahi hōʻailona hānau poni-ʻulaʻula, maʻamau ma kekahi o nā lima a i ʻole nā ​​​​wāwae, i kapa ʻia ʻo 'port-wine stain' . I ka manawa pinepine, loaʻa i ka poʻe me kēia KTS kekahi mau pilikia me kā lākou ʻōnaehana lymphatic . He ʻōnaehana koʻikoʻi kēia ʻōnaehana lymphatic e kōkua i ka mālama ʻana i nā wai o ko mākou kino i ke kaulike.

ʻAʻohe lāʻau lapaʻau no KTS i kēia manawa. Eia naʻe, mai hopohopo. Nui nā lāʻau lapaʻau kūpono e hoʻokele i nā hōʻailona . Inā ʻike ʻia ke kūlana a mālama ʻia i ka wā hikiwawe loa, e like me ma hope o ka hānau ʻana o ka pēpē, hiki ke hoʻemi nui ʻia nā pilikia olakino e hiki mai ana ma muli o KTS.

Kāhea kekahi mau kauka i ke kūlana KTS ʻo CLVM . ʻO kēia ka leka mua o nā huaʻōlelo Pelekania ʻehā.

• ʻO C no nā Capillaries - ʻo ia nā kīʻaha koko liʻiliʻi e hoʻopili ana i ko mākou mau aa koko a me nā aʻa.
• ʻO L ke kū nei no ka ʻōnaehana Lymphatic - ʻO kēia kekahi ʻāpana o kā mākou ʻōnaehana pale. Lawe ia i kahi wai i kapa ʻia ʻo lymph ma ke kino holoʻokoʻa.
• ʻO V ke kū nei no Veins - ʻo ia nā kīʻaha koko e lawe i ke koko i ko kākou puʻuwai.
• ʻO ke kū nei ka leka M no Malformation . ʻO ia hoʻi, ʻaʻole ulu maʻamau kahi ʻāpana o ke kino, a i ʻole he deformity.

Ua kapa ʻia ʻo KTS ma hope o ʻelua mau kauka Farani, ʻo Maurice Klippel lāua ʻo Paul Trenaunay, nāna i ʻike i ke ʻano i ka makahiki 1900. Manaʻo nā loea he 1 i loko o 100,000 mau kānaka ma ka honua holoʻokoʻa e ʻeha nei i ke ʻano. Hiki iā ia ke hoʻopilikia i kekahi, me ka nānā ʻole i ka lāhui a i ʻole ke kāne.

He aha nā hōʻailona o KTS? Pehea ʻoe e ʻike ai?

ʻO nā hōʻailona o ka Klippel-Trenaunay Syndrome (KTS) e hoʻopilikia nui i nā aʻa koko, nā capillaries, nā ʻiʻo palupalu, nā iwi, a me nā kīʻaha lymph i loko o ko mākou kino. E nānā kākou pehea:

1. Ka hewa o ke kapikala (CM):

ʻO kēia kahi e kū mai ai ke ʻano o ka 'port-wine stain' a mākou i ʻōlelo ai ma mua. Hoʻokumu ʻia kēia e ka pehu ʻana o nā capillaries ma lalo o ko mākou ʻili. Hiki i kēia mau māka hānau ke lilo i kekahi o nā hōʻailona mua e loaʻa paha iā ʻoe ʻo KTS. Hiki i kēia mau kiko ke hele mai i nā kala like ʻole, mai ka poni māmā a i ka poni ʻeleʻele (ʻulaʻula waina). I kou wā ʻelemakule, hiki i kēia mau kiko ke lilo i pehu, māmā, a ʻeleʻele paha.

2. Ka hewa o ke aʻa koko (VM):

Kokoke i nā kānaka a pau me KTS he mau malformations venous. Hiki i kēia ke hoʻopilikia i nā aʻa koko ma luna pono o ka ʻili o ka ʻili, e hana ana i nā aʻa koko varicose i nā wāwae, ʻoi aku hoʻi ma ka ʻūhā a me nā ʻūhā. Hiki iā lākou ke hoʻopilikia i nā aʻa koko hohonu e holo hohonu ana i loko o ke kino. Hiki i kēia ke alakaʻi i kahi clot koko i loko o nā aʻa koko hohonu (Deep Vein Thrombosis - DVT) . He kūlana weliweli ka DVT.

3. Ka ulu nui ʻana o nā ʻiʻo palupalu a me ka iwi:

He kūlana kēia kahi, mai ka wā ʻōpiopio, e ulu nui ana kekahi lima a wāwae paha ma mua o kekahi. ʻO ka hapa pinepine, hoʻopilikia kēia i hoʻokahi lima a wāwae paha, a ʻo ka hapa pinepine hoʻi i hoʻokahi wāwae wale nō. I kekahi manawa ʻoi aku ka lōʻihi o kekahi wāwae ma mua o kekahi. Hiki i kēia ke kumu o ka nalowale ʻana o ke kaulike, ka paʻakikī i ka hele wāwae, a me ka palena o ka neʻe ʻana.

4. Ka maʻi ʻino o ka lymphatic (LM):

Loaʻa paha i kekahi poʻe me KTS nā kīʻaha lymph keu i loko o kā lākou ʻōnaehana lymphatic, a i ʻole he ʻano ʻē paha ke ʻano o nā kīʻaha lymph e kū nei. Ma muli o ka hana pono ʻole o kēia mau kīʻaha lymph keu, hiki i ka wai lymphatic ke kahe , e hoʻoulu ai i ka pehu ʻana i nā wāwae, ʻoi aku hoʻi nā wāwae, a i ʻole nā ​​pilikia ma ka pelvis, ka ʻōpū mimi, a i ʻole nā ​​​​ʻōpū haʻahaʻa.

He aha ke kumu o KTS? No ke aha e hana ʻia ai kēia?

ʻO ka hapa nui o ka manawa, hoʻokumu ʻia ʻo KTS e kahi ʻano like ʻole o kahi gene i kapa ʻia ʻo PIK3CA . Hiki pinepine kēia hoʻololi ʻana o ka genetic, ʻo ia hoʻi, ʻaʻohe kumu i ʻike ʻia. ʻAʻole ia i hoʻoilina ʻia mai nā mākua mai . ʻO ia hoʻi, inā ʻaʻohe o ka makua ʻelua i loaʻa iā KTS, hiki i ke keiki ke loaʻa iā KTS ma muli o kēia hoʻololi ʻana o ka genetic.

Loaʻa i kekahi poʻe ʻo KTS me ka ʻole o kēia hoʻololi ʻana o ka gene PIK3CA. No laila, manaʻoʻiʻo nā kānaka noiʻi ua hiki ke hoʻokumu ʻia ʻo KTS e nā hoʻololi ʻana i loko o kekahi mau gene ʻē aʻe. Ke hoʻomau nei ka noiʻi ʻana i kēia.

He aha nā pilikia e hiki mai ana o KTS?

Hiki i ka KTS ke hoʻoulu i nā pilikia like ʻole. No laila he mea nui ka mālama koke ʻana. E nānā kākou i kēlā mau pilikia:

• Nā ʻūpē koko: Hiki ke hana, ʻoiai ma nā aʻa koko hohonu (DVT).
• Cellulitis: He maʻi bacteria kēia e kū ana ma lalo o ka ʻili.
• Ka hōʻiliʻili ʻana o ka wai a me ka pehu ʻana (Lymphedema): Hana ʻia e ka hana hemahema o ka ʻōnaehana lymphatic.
• Ke kahe koko i loko: Hiki ke kahe koko i loko o ke ala gastrointestinal (GI), ka ʻōpū mimi, a i ʻole ka ʻōnaehana hānau wahine.
• ʻO ka embolism pulmonary: He ʻano hoʻoweliweli kēia i ke ola kahi e haki ai ke koko i hana ʻia i loko o nā veins hohonu a ālai i kahi aʻa i loko o nā māmā.

He mea kākaʻikahi loa, loaʻa paha i ka poʻe me KTS nā kīnā hānau ma ko lākou mau lima a i ʻole nā ​​​​wāwae. Eia kekahi laʻana:

• Loaʻa nā manamana lima keu (Polydactyly)
• Nā manamana lima i hoʻopili ʻia (Syndactyly)

Ke kumu nei ʻo KTS i ka ʻeha?

ʻAe, hiki iā KTS ke ʻeha.

• Hiki i nā aa Varicose ke hoʻoulu i ka ʻeha a i ʻole ka maneʻo.
• Hiki i nā pilikia me ke kahe koko ke hoʻoulu i ka pehu a me ka ʻeha, ʻoi aku hoʻi ma nā wāwae haʻahaʻa.
• ʻO ka ulu nui ʻana o kahi ʻōkana, e like me ka wāwae, hiki ke hana i ka manaʻo kaumaha a me ka ʻeha ma ia wāwae.

Pehea e ʻike ai nā kauka iā KTS? (Diagnosis)

Hoʻoholo mua nā kauka i ka KTS ma muli o nā hōʻailona kino. Manaʻo ʻia ka KTS inā he mau pilikia ma ka liʻiliʻi ʻelua o nā wahi nui ʻekolu a mākou i kūkākūkā ai ma mua - nā capillaries, nā veins, a i ʻole ka ulu ʻana o nā lālā. ʻOiai ʻike ʻia ka nui o nā hōʻailona o KTS i ka wā hānau, hiki paha ke hoʻoholo i ka KTS ma mua o ka haʻalele ʻana o kāu pēpē i ka haukapila.

He aha nā hoʻokolohua i hoʻohana ʻia e ʻike ai i ka KTS?

Ma muli o nā hōʻailona, ​​​​hiki i ke kauka ke hana i nā hoʻokolohua e like me kēia e hōʻoia hou i ke kūlana a hoʻoholo i ka nui o ka pilikia:

• Nā scan CT a i ʻole nā ​​​​scan MRI: E nānā i ke kūlana o nā ʻiʻo palupalu a me nā iwi.
• ʻO Magnetic Resonance Angiogram (MR angiogram): He hoʻāʻo MRI kūikawā kēia e hiki ke ʻike maopopo i ke kūlana o nā kīʻaha koko a me nā aʻa koko.
• ʻO ke kani ʻana o ka Doppler ultrasound: Kōkua kēia i ka ʻike ʻana i ke kahe ʻana o ke koko ma o nā aʻa koko a me nā veins.

He aha nā lāʻau lapaʻau no KTS?

ʻOkoʻa ka mālama ʻana no ka Klippel-Trenaunay Syndrome (KTS) ma muli o nā hōʻailona i loaʻa i kēlā me kēia kanaka.ʻAʻole i hāʻawi ʻia nā kānaka a pau i ka lāʻau like. ʻO ka pahuhopu nui o ka lāʻau lapaʻau, ʻo ia ke kāohi i nā hōʻailona a hoʻemi i ka pilikia o nā pilikia. E nānā kākou i nā ʻano lapaʻau nui:

• Nā lāʻau hoʻomāmā koko / Anticoagulants: No ka laʻana, nā lāʻau lapaʻau e like me Heparin . Hoʻemi kēia i ka pilikia o nā ʻōpū koko i nā wāwae (DVT) a me ka embolism pulmonary.
• Sirolimus: Hoʻohana pinepine ʻia kēia lāʻau lapaʻau e pale i ke kino mai ka hōʻole ʻana i kahi ʻōkana i hoʻoili ʻia. Eia nō naʻe, ua ʻike ʻia hoʻi e pale i nā malformations vascular mai ka lilo ʻana i mea ʻino.
• Nā kāmaʻa hoʻopaʻa: He mau ʻano kāmaʻa kūikawā kēia e kōkua ai i ke kahe ʻana o ke koko mai nā wāwae a i ka puʻuwai. Hiki i kēia ke kōkua i ka hōʻemi ʻana i ka pehu, ka ʻeha, a me ka pilikia o nā ʻūpā koko.
• ʻO ka hoʻopau wela endovenous: Pili kēia i ka hoʻohana ʻana i nā kukuna ikehu i kālele ʻia e sila i nā kīʻaha koko pilikia mai loko mai. Hana ʻia kēia ʻoiai e noho mau ana nā aa koko. ʻO ka hopena, ua emi ka manawa hoʻōla a emi ka ʻeha.
• Lapaʻau Laser: Hiki ke hoʻohana ʻia nā kukuna ikehu ikaika a kālele ʻia e luku a wehe paha i nā ʻiʻo i makemake ʻole ʻia. Hoʻohana ʻia kēia lāʻau laser e hoʻomālamalama i ke kala o kahi hōʻailona hānau 'port-wine stain'.
• Sclerotherapy: Ma kēia, ua hoʻokomo pololei ʻia kahi hopena kūikawā i loko o nā aa pilikia, nā capillaries, a i ʻole nā ​​​​​​aʻa lymphatic. A laila pani ʻia nā aʻa. He lāʻau lapaʻau kūpono loa kēia no nā aʻa varicose.
• Hāpai kāmaʻa: Inā ʻaʻole like ka lōʻihi o kou mau wāwae, hiki iā ʻoe ke kau i kahi hāpai kiʻekiʻe ma kekahi kāmaʻa e hoʻoponopono i kēia. Hiki i kēia ke kōkua i ka pale ʻana i ka scoliosis .
• ʻOki kino: Hiki ke hana ʻia ke ʻoki kino e hoʻoponopono i nā pilikia me nā aa koko a e hoʻohālikelike i ka lōʻihi o nā wāwae. A i ʻole, hiki ke hana ʻia ke ʻoki kino e wehe i ka momona a i ʻole ka ʻiʻo keu e hōʻemi i ka nui o ka lima a i ʻole ka wāwae i ulu nui. I kekahi manawa, inā paʻakikī ke kau ʻana i nā kāmaʻa a i ʻole ka hele ʻana ma muli o kahi manamana wāwae nui loa, hiki ke wehe ʻia ka manamana wāwae ma ke ʻoki kino.

Hiki ke pale ʻia ʻo KTS?

ʻO ka mea pōʻino, no ka mea, hiki wale mai ʻo KTS, ʻaʻohe ala e pale aku ai i kona ulu ʻana . Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, hiki i ka lāʻau kūpono ke kōkua i ka poʻe me KTS e ola i kahi ola kiʻekiʻe.

He aha ke ʻano o ka wā e hiki mai ana e hiki i kekahi me KTS ke manaʻo?

ʻOiai ʻaʻohe lāʻau lapaʻau no KTS, hiki ke mālama ʻia nā hōʻailona. I ka hapanui o nā hihia, ola ka poʻe me ke ʻano i kahi ola maʻamau .

Eia nō naʻe, hiki ke ʻokoʻa ka nānā ʻana no KTS mai kēlā kanaka a kēia kanaka. Aia ia i ke koʻikoʻi o kou mau malformations vascular. Hiki i kēia ke lilo i mea ʻino aʻe i ka hala ʻana o ka manawa. No laila, inā loaʻa iā ʻoe ke kahe koko GI, ka thrombosis vein hohonu, a i ʻole ka embolism pulmonary , pono ʻoe e ʻimi koke i ke kōkua lapaʻau . Hiki i nā ʻūpā koko a i ʻole ke kahe nui ke make.

Hiki i ke aʻo lapaʻau a me ka mālama ʻana i nā lāʻau lapaʻau maʻamau ke hōʻemi nui i ka pilikia o nā pilikia.

Inā loaʻa iaʻu ʻo KTS, pehea wau e mālama ai iaʻu iho? / Pehea wau e mālama ai i kaʻu keiki?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka KTS, e makaʻala i kēia mau mea:

• E mālama pono i kou ʻili: He mea nui e pale i nā maʻi.
• ʻAʻole ʻōlelo ʻia nā ʻano hana hoʻomalu hānau hormonal i loaʻa ka estrogen: Hiki iā lākou ke hoʻonui i ka pilikia o nā ʻūpā koko. E kamaʻilio me kāu kauka e pili ana i kēia.
• E lawe i ka lāʻau lapaʻau e pale ai i nā ʻōpū koko i ka wā hāpai: E aʻo aku kāu kauka iā ʻoe ma kēia.
• E lawe i nā lāʻau hoʻomāmā koko ma mua o ke ʻoki ʻana: E hōʻemi i ka pilikia o nā ʻūpā koko.

Āhea wau e ʻike ai i ke kauka?

E ʻike i kāu kauka i nā manawa maʻamau i kou ola no nā nānā ʻana . E ʻae kēia i kāu kauka e nānā i kou kūlana a mālama i nā pilikia hou e kū mai ana. E kōkua nā nānā mau i kāu kauka e ʻike i ka maikaʻi o ka hana ʻana o kāu lāʻau lapaʻau a hana i nā hoʻololi i kāu hoʻolālā lapaʻau inā pono.

Āhea wau e hele ai i ka Emergency Treatment Unit (ETU) ?

Inā manaʻo ʻoe he ʻūpā koko kou (e like me, DVT, nā hōʻailona Pulmonary Embolism) a inā ʻoe e kahe nui ana ke koko (ke kahe nui ʻana o ke koko), pono ʻoe e hele koke i ka lumi pilikia.

He aha nā nīnau koʻikoʻi e nīnau aku ai i ke kauka?

Inā loaʻa iā ʻoe a i kāu keiki paha ʻo KTS, makemake paha ʻoe e nīnau i kāu kauka e like me:

• He aha nā lāʻau lapaʻau maikaʻi loa noʻu/kaʻu keiki?
• ʻEhia pinepine e pono ai iaʻu ke hele mai no nā hoʻokolohua?
• I koʻu kūlana i kēia manawa, he aha kāu e ʻōlelo ai e pili ana i koʻu wā e hiki mai ana (prognosis/view)?

He mea hoʻoweliweli anei ke KTS i ke ola?

ʻAʻole pili pololei ʻo KTS i ka manaʻolana ola. Eia nō naʻe, hiki i kekahi mau pilikia e hiki mai ana ma muli o KTS, e like me ke kahe koko kūloko a i ʻole ka embolism pulmonary, ke hoʻoweliweli i ke ola . ʻO ka mālama mau ʻana no kēia mau mea pilikia hiki ke hōʻemi i ka pilikia o nā pilikia.

He kīnā anei ʻo KTS?

Hiki ke hana. Inā ʻaʻole hiki iā ʻoe ke hana ma muli o nā pilikia o KTS, e like me ka deep vein thrombosis (DVT) a i ʻole ka pulmonary embolism, hiki iā ʻoe ke kūpono no nā pono kīnā. Hiki paha iā ʻoe ke kūpono no nā pono e like me ka hōʻailona kaʻa kīnā no nā pilikia e like me ka paʻakikī o ka hele wāwae ma muli o ka hoʻonui ʻia o nā lālā.

Hiki ke paʻakikī ke hoʻomaopopo i nā hōʻailona a me nā pilikia āpau o KTS i ka manawa hoʻokahi. Eia nō naʻe, hiki i kāu kauka ke wehewehe iā lākou āpau iā ʻoe a kōkua iā ʻoe e mālama i kāu mau pilikia. Mai makaʻu e hoʻomaopopo i kāu kauka e pili ana i kou manaʻo a me nā hōʻailona hou āu e ʻike nei . ʻO ke kamaʻilio ākea ʻana e like me kēia e maʻalahi ai ke noi ʻana i ke kōkua inā loaʻa iā ʻoe kekahi mau pilikia.

ʻO nā mea a mākou e makemake ai e lawe i ka home mai kēia moʻolelo (Leka Lawe-Home)

ʻAe, ua kamaʻilio nui kākou e pili ana iā KTS, ʻeā? Eia kekahi mau mea e hoʻomanaʻo ai:

• He maʻi laha ʻole ʻo KTS, hānau ʻia mai . No laila, mai hopohopo, ʻaʻole ʻoe hoʻokahi.
• ʻO nā hōʻailona nui he ʻōuli hānau 'port-wine stain', kahi lima/wāwae i hoʻonui ʻia, a me nā pilikia me nā aa koko .
• ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, aia nā lāʻau lapaʻau maikaʻi loa e kaohi i nā hōʻailona .
• He mea nui loa ka ʻike ʻana i ka maʻi a hoʻomaka i ka lāʻau i ka wā hikiwawe loa .
• He mea nui e loaʻa ka mālama lapaʻau mau a me ka mālama ʻana e pono ai i ke ola holoʻokoʻa.
• E mālama i ke kamaʻilio maikaʻi me kāu kauka. E nīnau i kāu mau nīnau, a e haʻi iā lākou i kou manaʻo.

Manaʻolana wau ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo maikaʻi i ka KTS. Inā loaʻa iā ʻoe a i ʻole kekahi āu i ʻike ai kēia mau hōʻailona, ​​​​ʻoi aku ka maikaʻi o ka ʻimi ʻana i ke aʻo lapaʻau.

ʻO ka maʻi ʻo Klippel-Trenaunay, KTS, ʻili waina awa, hōʻailona hānau, maʻi ʻaʻai koko, ʻōnaehana lymphatic, ulu nui ʻana o nā lālā, maʻi hānau, hōʻailona hānau ʻulaʻula, maʻi ʻaʻai koko, ʻōnaehana lymphatic, ulu nui ʻana o nā lālā, maʻi hoʻoilina, CLVM