Ua ʻike anei ʻoe i kekahi ʻāpana o ke kino o kāu keiki liʻiliʻi, he lima paha, he wāwae, a he manamana lima paha, he ʻano nui loa ia i hoʻohālikelike ʻia me ke koena o ko lākou kino? A i ʻole ua ʻike anei ʻoe i kahi mea ʻē, e like me kahi ʻiole nui ma ko lākou ʻili a i ʻole kahi ʻāpana hihia o nā kīʻaha koko? He mea maʻamau no kekahi makua ke hopohopo ke ʻike lākou i nā mea e like me kēia. I kēia lā, ke kamaʻilio nei mākou e pili ana i kahi hui o nā maʻi kakaikahi e hiki ai ke hoʻoulu i kēia mau mea. Ua kapa ʻia ʻo PROS, a i ʻole PIK3CA-Related Overgrowth Spectrum.
E hoʻomaopopo pono kākou i ke ʻano o PROS a me PIK3CA.
ʻO ka mea mua, ʻaʻole he maʻi hoʻokahi ʻo PROS. He ʻano ia o kekahi mau kūlana like ʻole. Hoʻokahi mea like o kēia mau kūlana a pau. ʻO ia hoʻi, lilo kekahi mau ʻāpana o ke kino i mea nui loa (ulu nui) a ulu paha i kahi ʻano ʻē.
I kēia manawa, e nānā kākou i ke kumu o kēia. ʻO ke kumu nui o kēia he loli, ʻo ia hoʻi, he mutation, i loko o ka gene i kapa ʻia ʻo `PIK3CA` i loko o ko kākou kino.
I ka ʻōlelo maʻalahi, ua like ko kākou kino me kahi hale hana nui. Aia kekahi mau kuhikuhi e pono e hana pololei ʻia nā mea āpau ma kēia hale hana. ʻO ka `PIK3CA` kahi gene koʻikoʻi e hāʻawi ana i kēlā mau kuhikuhi. ʻO ia ka mea e haʻi aku i kā kākou mau cell, "ʻAe, i kēia manawa e māhele ʻoe," "I kēia manawa e ulu ana ʻoe," "ʻAe, i kēia manawa ua pau kou manawa, e make."
Eia nō naʻe, inā hewa kahi leka i loko o ka puke kuhikuhi o kēia gene `PIK3CA`, ʻo ia hoʻi, inā loaʻa kahi mutation, huikau nā leka i loaʻa i kēlā mau cell. A laila māhele koke kekahi mau cell, a ʻaʻole paha e make i ka wā e pono ai. ʻO ia ka manawa e ʻike ai mākou i ka ulu nui ʻana ma nā wahi o kēlā mau cell, ʻo ia hoʻi, ma nā wahi e like me ka ʻili, nā kīʻaha koko, nā iwi, nā ʻiʻo momona a me ka lolo .
Aia kekahi mea nui loa e pono ʻoe e hoʻomanaʻo ma ʻaneʻi. ʻAʻole ʻo PROS kahi maʻi i hoʻoili ʻia mai ka makua a i ke keiki. ʻO ke ʻano kēia, inā loaʻa iā ʻoe kēia maʻi, ʻaʻole e loaʻa i kāu keiki, a inā loaʻa i kekahi o kāu mau keiki, ʻaʻole e loaʻa i nā keiki ʻē aʻe. ʻAʻole hana ʻia kēia loli genetic i loko o kēlā me kēia cell o ke kino o ke keiki, akā i loko o kekahi mau cell wale nō. No laila, mai makaʻu pono ʻole i kēia.
Nā kūlana olakino like ʻole e hāʻule ana ma lalo o PROS
I kekahi manawa e ʻike pololei nā kauka i kahi maʻi me PROS. I kekahi manawa, e kapa lākou i kahi kūlana olakino kikoʻī (syndrome) e hāʻule ana ma lalo o ka malu PROS. Ua helu ʻia kekahi o kēia mau mea ma ka papa ma lalo nei.
| Inoa o ka maʻi (Syndrome) | Nā hiʻohiʻona nui a me ka wehewehe |
|---|---|
| ʻO ka hyperplasia fibroadipose | Ma kēia kūlana, ʻo ka ulu nui ʻana o nā ʻiʻo momona, nā ʻiʻo fibrous, a i ʻole nā kīʻaha koko e hoʻoulu ai i nā puʻupuʻu e like me ka puʻupuʻu e ulu i loko o nā lālā a i ʻole nā ʻāpana ʻē aʻe o ke kino. I ka hala ʻana o ka manawa, hiki i kēia mau mea ke ulu a hoʻopilikia i ka hele wāwae a me ka neʻe ʻana. |
| ʻO ka maʻi CLOVES | Ua loaʻa ka inoa mai nā leka mua o nā hōʻailona. C - Congenital (mai ka hānau ʻana mai), L - Lipomatous (pili i ka momona - hiki i nā keiki he nui ke ʻike i kahi mea e like me ka puʻupuʻu momona), O - Overgrowth (ulu nui), V - Vascular malformations (nā kīʻaha koko maʻamau - e like me nā māka hānau, nā aʻa kolo), E - Epidermal nevus (kahi ʻano mole e kū mai ana ma ka ʻili), S - Spinal/Skeletal (nā pilikia me ke kuamoʻo a i ʻole nā iwi - e.g. ʻeha hope). |
| ʻO ka maʻi Megalencephaly-capillary malformation (MCAP) | Hoʻomohala nui ʻia ka lolo, nā kīʻaha koko, a me nā hiʻohiʻona o ka helehelena. Hiki i kēia mau keiki ke lohi i ka ulu ʻana a me nā manamana lima ʻano ʻē. |
| ʻO ka maʻi Hemihyperplasia-multiple lipomatosis (HHML) | Hoʻopilikia pinepine ia i ka ulu ʻana o nā lima a me nā wāwae. Hoʻokumu ʻia nā ʻōpū momona e ulu lohi ana, ʻaʻohe ʻeha (lipomas) ma lalo o ka ʻili ma nā wahi like ʻole o ke kino, ʻoiai ke kua, ke kino, nā lālā, a me nā manamana lima. |
| ʻO ka Hemimegalencephaly | Ma kēia kūlana, lilo ka lolo holoʻokoʻa a i ʻole ka hapalua o ka lolo i ʻoi aku ka nui ma mua o ka maʻamau. Hiki i kēia mau keiki ke loaʻa i nā ʻōhū, ka maʻi lolo, a me nā lohi o ka ulu ʻana. |
| ʻO ka lipomatosis komo maka | He pehu ʻeha ʻole a i ʻole ka ulu ʻana ma kekahi ʻaoʻao o ke poʻo. ʻO ka maʻamau, hiki kēia ma kekahi ʻaoʻao o ke poʻo. I kekahi manawa, hiki ke hoʻonui ʻia kekahi ʻāpana o ke alelo a hiki ke hoʻopilikia ʻia nā iwi a me nā niho. |
He aha nā lāʻau lapaʻau no kēia?
ʻAʻohe lāʻau lapaʻau no PROS i kēia manawa. Eia nō naʻe, nui nā ala e mālama ai i ke kūlana a me kona mau hōʻailona.
Na kāu kauka e hoʻoholo i ka lāʻau kūpono loa no kāu keiki. E hana ʻo ia i kēia mau hoʻoholo ma hope o ka nānā pono ʻana i ke kūlana o kāu keiki a me ke kūkākūkā ʻana me nā loea like ʻole (e.g., nā kauka ʻoki kino, nā neurologist). Eia kekahi o nā koho lapaʻau nui:
- ʻO ke ʻoki kino: Hiki ke ʻōlelo ʻia ke ʻoki kino e wehe i nā ʻiʻo i ulu nui ʻia, ʻoiai inā ke hoʻopilikia nei ka ulu ʻana i ka hiki o kāu keiki ke hele a hana paha i nā hana o kēlā me kēia lā, ke kau nei i ke kaomi ma ka lolo, a i ʻole e pono e hoʻoponopono i kahi kūlana e like me ka scoliosis.
- Nā lāʻau lapaʻau: Hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau e kāohi i nā hōʻailona kikoʻī, e like me nā hopu ʻana. Ke hana ʻia nei hoʻi ka noiʻi ʻana i nā lāʻau lapaʻau hou e pili ana i ka hana o ka gene PIK3CA.
Pehea lā ka wā e hiki mai ana o kaʻu keiki?
ʻO kēia kekahi o nā hopohopo nui a me nā makaʻu no kekahi makua. He maʻi ola mau ka PROS. ʻOiai ʻokoʻa loa nā hōʻailona mai kēlā kanaka a kēia kanaka, hiki ke ʻokoʻa ka wā e hiki mai ana o ke keiki.
ʻO ke ʻano kēia, hiki i kekahi mau keiki ke ola i kahi ola maʻamau me ka ʻole o nā hopena nui. ʻO kekahi poʻe, ʻoiai inā ua hoʻopilikia ʻia ka lolo, e ʻike paha i nā ʻokoʻa aʻo a me nā lohi o ka ulu ʻana.
Eia kekahi, ua ʻike ʻia aia kekahi poʻe me PROS i kahi pilikia o ka loaʻa ʻana o ka maʻi kanesa, no ka mea, loaʻa pū kēia ʻano hoʻololi gene PIK3CA i loko o nā hunaola kanesa i nā poʻe me ka ʻole o PROS.
Mai makaʻu pono ʻole i kēia. ʻO ka mea nui loa, ʻo ia ke kamaʻilio ākea e pili ana i kēia pilikia me kāu kauka. A laila, hiki iā ʻoe ke hana i nā hoʻokolohua e pono ai i ka manawa kūpono a ʻike inā he pilikia o ia ʻano kūlana. E nānā mau ana kāu kauka i ke kūlana o kāu keiki a hāʻawi i ke alakaʻi e pono ai.
Leka Lawe-Home
- ʻO PROS kahi hui o nā kūlana i hoʻokumu ʻia e kahi mutation i loko o ka gene `PIK3CA`. ʻAʻole kēia i hana ʻia e ka hewa o nā mākua.
- ʻAʻole kēia he maʻi hoʻoilina. No ka mea wale nō ua loaʻa i kekahi o kāu mau keiki ia mea, ʻaʻole ia manaʻo e loaʻa pū ana i nā keiki ʻē aʻe.
- Hiki ke ʻokoʻa loa nā hōʻailona mai kekahi keiki a i kekahi keiki. Loaʻa paha i kekahi nā hopena iki, aʻo kekahi paha he mau pilikia koʻikoʻi.
- ʻOiai ʻaʻohe lāʻau lapaʻau no PROS, hiki ke mālama maikaʻi ʻia nā hōʻailona me ke ʻoki ʻana a me ka lāʻau lapaʻau.
- He mea nui loa e kamaʻilio ākea a pinepine me kāu kauka e pili ana i nā hopohopo a makaʻu paha āu e pili ana i ke kūlana o kāu keiki, ka lāʻau lapaʻau, a me ka wā e hiki mai ana.
💬 Comments (0)
ʻAʻohe manaʻo i kau ʻia. Hoʻohui i kāu manaʻo ma ʻaneʻi no ka manawa mua.
Hoʻohui i kāu manaʻo