Ke luhi nei kāu keiki a luhi mau i nā manawa a pau? Ke nānā aku nei ʻo ia he keʻokeʻo? A i ʻole he mau loli kino paha e kū mai ana mai ka hānau ʻana mai? Malia paha ʻo ke kumu o kēia mau mea he maʻi laha ʻole i kapa ʻia ʻo Fanconi Anemia. Mai makaʻu i kou lohe ʻana i kēia inoa, no ka mea, he maʻi ia i lohe ʻole ʻia e ka poʻe he nui, he paʻakikī iki, a he mea laha ʻole hoʻi. No laila i kēia lā e kamaʻilio mākou e pili ana i kēia, he aha ia, he aha nā hōʻailona, a aia kekahi lāʻau lapaʻau, ma ke ʻano maʻalahi loa hiki iā ʻoe ke hoʻomaopopo.
ʻAe, e nānā mua kākou i ke ʻano o ka Fanconi anemia (FA)?
I ka ʻōlelo maʻalahi, ʻo Fanconi Anemia (FA) kahi maʻi genetic kakaikahi e hoʻopilikia nui i ka iwi iwi i loko o ko mākou kino.
I kēia manawa, ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia iwi iwi. Kāhea mākou i ka ʻāpana palupalu a huʻahuʻa i loko o nā iwi nui o ko mākou kino he iwi iwi. Ua like ia me kahi hale hana koko i loko o ko mākou kino. ʻO nā ʻano nui ʻekolu o nā hunaola koko e pono ai ko mākou kino , nā hunaola koko ʻulaʻula, nā hunaola koko keʻokeʻo, a me nā platelets, ua hana ʻia mai kēia iwi iwi.
Eia naʻe, ʻaʻole hiki i ka iwi o ke kanaka me FA ke hana pono i kēia mau hunaola koko. Me he mea lā ua hoʻopilikia ʻia ka hana ʻana o ka hale hana. ʻO ka hopena, ʻaʻole i hana ʻia nā hunaola koko olakino i ka nui kūpono. Hiki i kēia kūlana ke hana i nā pilikia olakino like ʻole. Eia kekahi, hiki i ka FA ke hoʻopilikia ʻaʻole wale i ka iwi, akā i nā ʻāpana ʻē aʻe he nui o ke kino.
Pehea ka hopena o ka FA i ke kino?
Hiki ke ʻokoʻa ke ʻano o kēia maʻi i kēlā me kēia kanaka, akā ma ke ʻano laulā, aia kekahi mau hopena nui.
- Nā ʻano kino ʻē: Ma kahi o 75% o nā keiki i hānau ʻia me ka FA, a i ʻole ʻekolu mai loko mai o ʻehā, he ʻano ʻano kino ʻē ko lākou. Hiki i kēia ke hoʻopilikia i ke ʻano a me nā ʻōpū o loko.
- ʻO ka hāʻule ʻana o ka iwi iwi: Ma kahi o 90% o ka poʻe me FA e loaʻa i ka hāʻule ʻana o ka iwi iwi. ʻO ke ʻano kēia, ʻaʻole hiki i ka iwi iwi ke hana i nā hunaola koko olakino. Hiki i kēia ke alakaʻi i nā maʻi koko ʻē aʻe, e like me ka anemia aplastic a me ka myelodysplastic syndrome (MDS) . Ua manaʻo ʻia ʻo MDS he pre-leukemia.
- Ka piʻi ʻana o ka pilikia o ka maʻi kanesa: Ma waena o 10% a me 30% o ka poʻe me FA he piʻi aʻe ka pilikia o ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa, e like me ka leukemia. Hiki i kēia mau maʻi kanesa ke loaʻa i ka wā ʻōpio ma mua o ke kanaka maʻamau.
Akā, mai hopohopo ke lohe ʻoe i kēia mau mea. I kēia lā, me ka ʻepekema lapaʻau holomua, ʻoiai nā lāʻau lapaʻau e like me nā hoʻoili iwi iwi, loaʻa i ka poʻe me FA ka manawa kūpono e ola olakino a lōʻihi.
He maʻi kanesa anei ka anemia Fanconi?
He nīnau kēia a ka poʻe he nui. ʻO ka pane maʻalahi, ʻaʻole . ʻAʻole ʻo FA he maʻi kanesa. He maʻi hoʻoilina ia.
Eia nō naʻe, no ka mea, ua pilikia ka hiki o ke kino ke hoʻoponopono i nā ʻāpana i hōʻino ʻia i ka poʻe me FA, ʻoi aku ka nui o ko lākou pilikia o ka loaʻa ʻana o ka maʻi kanesa ma mua o nā poʻe ʻē aʻe. ʻOi aku ka nui o ko lākou pilikia e loaʻa i nā maʻi kanesa e like me ka leukemia myeloid acute , ka maʻi kanesa ʻili, a me ke kanesa poʻo a me ka ʻāʻī.
He aha nā hōʻailona o kēia maʻi?
ʻOkoʻa loa nā hōʻailona o ka FA. Loaʻa i kekahi poʻe nā hōʻailona i ʻike ʻia i ka wā hānau, aʻo kekahi poʻe ʻaʻole paha e ʻike i kekahi mau hōʻailona no nā makahiki. E hoʻokaʻawale kākou i kēia mau hōʻailona i kekahi mau ʻano.
1. Nā Hōʻailona o ka Anemia
ʻIke ʻia kēia mau hōʻailona ke emi iho nā hunaola koko ʻulaʻula o ke kino.
- Luhi mau: Manaʻo nui i ka luhi a me ka luhi loa ʻaʻole hiki iā ʻoe ke hana i nā hana maʻamau.
- ʻIli keʻokeʻo: Ke nānā aku nei ka ʻili he keʻokeʻo ma muli o ka nele o ke koko i loko o ke kino.
- Pōkole o ka hanu: Manaʻo i ka pōkole o ka hanu ʻoiai ma hope o ka hele wāwae iki ʻana.
- Manaʻo e kuʻi wikiwiki ana kou puʻuwai.
- ʻEha pinepine ka ʻeha.
2. Nā Hōʻailona o ka Holo ʻole o ka Iwi Moa
ʻO kēia ke kumu o nā hōʻailona ma muli o ka emi ʻana o nā hunaola koko ʻulaʻula, nā hunaola koko keʻokeʻo, a me nā platelets.
- Nā maʻi pinepine: Ma muli o ka haʻahaʻa o nā hunaola koko keʻokeʻo, ua nāwaliwali ka ʻōnaehana pale o ke kino, e alakaʻi ana i nā maʻi bacteria a me nā maʻi fungal pinepine.
- Ke kahe koko maʻalahi: ʻO ka helu haʻahaʻa o nā platelet e hoʻopilikia i ke kāpili ʻana o ke koko. Hiki i kēia ke alakaʻi i ke kahe koko mai nā ʻāʻī a me ka ihu, ka ʻeha a me ka ʻeha, a me ke kahe koko ʻaʻole e pau mai nā ʻeha liʻiliʻi.
3. Nā hōʻailona o nā maʻi ʻaʻai e pili paha me FA
- MDS a me AML: Hiki i kēia mau kūlana ke hoʻoulu i ka luhi nui, ke kahe koko maʻalahi a me ka ʻeha, ka mae, ka paʻakikī o ka hanu ʻana, a me nā maʻi koʻikoʻi.
- ʻO ka maʻi kanesa cell squamous: Nā puʻupuʻu paʻakikī a i ʻole nā ʻeha ʻaʻole e ho'ōla ma ka ʻili.
4. Nā ʻano e pili ana i nā loli kino
ʻIke pinepine ʻia kēia mau ʻano i ka wā hānau. ʻAʻole loaʻa i nā kānaka a pau kēia mau ʻano a pau, akā loaʻa paha iā lākou hoʻokahi a ʻoi aku paha.
| ʻOkoʻa ʻano/kino | He wehewehe maʻalahi |
|---|---|
| Nā loli ma nā lima a me nā manamana nui | Nā manamana nui ʻano ʻē, me nā manamana nui ʻelua ma kekahi lima, a i ʻole ʻaʻohe manamana nui iki. |
| ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau (Microcephaly) | Hiki i kēia mau keiki ke lohi i ke aʻo ʻana i nā mea e like me ke kamaʻilio ʻana, ke kū ʻana, a me ka hele ʻana. |
| ʻO ka hydrocephalus | Hiki i kēia ke hana i nā pilikia me ke kaulike, ka ʻike, a me ke aʻo ʻana. |
| Ka hemahema o ka lohe | Nā pilikia lohe ma muli o ke ʻano ʻē a liʻiliʻi paha o nā pepeiao. |
| Nā loli o ke kala ʻili | Nā kiko ʻeleʻele māmā (nā kiko café-au-lait) a i ʻole nā kiko nui ma ka ʻili. |
| Scoliosis | Ke ʻike ʻana i kahi piʻo ʻē o ka iwi kuamoʻo. |
| Ka lohi o ka ulu ʻana | ʻOi ke kiʻekiʻe a me ke kaumaha ma mua o nā hoa. |
No ke aha lā kēia e hana nei? He aha ke kumu?
ʻO ke kumu o kēia, he kīnā i loko o kā mākou mau genes . E noʻonoʻo i ko mākou kino e like me kahi hale i kūkulu ʻia e like me kahi hoʻolālā paʻakikī. ʻO kēlā hoʻolālā, ʻo ia ko mākou mau genes. Aia ma kahi o 20 mau genes e pili ana me FA. ʻO ka hana nui o kēia mau genes, ʻo ia ka pale a me ka hoʻoponopono ʻana i nā cell o ko mākou kino, ʻoiai ʻo DNA, mai ka pōʻino o kēlā me kēia lā.
He mutation ko ke kanaka me FA i loko o kēia mau genes. No laila, ʻaʻole hana pono ke kaʻina hana o ka hoʻoponopono ʻana i ka pōʻino.
- Ma muli o kēiaHoʻākoakoa nā pōʻino ʻē aʻe i ka DNA a hoʻomaka nā pūnaewele e māhele like ʻole a make paha.
- Hana ʻia nā loli kino a me ka emi ʻana o ka helu o nā sela koko ke make nā sela i ke ʻano ʻē.
- ʻIke ʻia nā maʻi ʻaʻai e like me ka leukemia ke hoʻomaka nā cell e ulu ma ke ʻano ʻē.
He mea kēia i hoʻoilina ʻia mai nā mākua a i nā keiki. ʻElua mau mākua me ka gene kīnā he 25% (hoʻokahi i loko o ʻehā) ka manawa e loaʻa ai kahi keiki me FA.
Pehea e ʻike ai nā kauka i kēia maʻi?
I ka manawa pinepine, kānalua ʻia ka FA ke nānā ʻia nā hōʻailona ʻē aʻe (no ka laʻana, anemia, nā maʻi pinepine), ma mua o ka ʻike pololei ʻia ʻana. A laila wale nō e hana ʻia ai nā hoʻokolohua kikoʻī no kēia kūlana.
Eia kekahi o nā hoʻokolohua i hana pinepine ʻia:
| Hoʻāʻo | He aha kāu e ʻike nei ma ʻaneʻi? |
|---|---|
| Helu Koko Piha (CBC) | Nānā ʻia ka helu o nā hunaola ʻulaʻula, nā hunaola keʻokeʻo, a me nā platelets i loko o ke koko a me ko lākou olakino. |
| Biopsy o ka iwi iwi | Lawe ʻia kahi hāpana liʻiliʻi o ka iwi iwi a nānā ʻia nā ʻāpana e ʻike i ka maʻi. |
| Nā Scan MRI a me Ultrasound | Hoʻohana ʻia kēia mau mea no ka nānā ʻana i nā loli i loko o nā ʻōpū o loko o ke kino. |
Aia kekahi mau hoʻokolohua genetic kūikawā i hoʻohana ʻia e hōʻoia i kēia maʻi:
- Hoʻāʻo Haʻihaʻi Chromosome: ʻO kēia ka hoʻāʻo nui e ʻike ai i ka FA. Ma kēia hoʻāʻo, hoʻohui ʻia kahi kemika i nā hunaola koko a ana ʻia nā chromosomes i loko o kēlā mau hunaola e ʻike i ka maʻalahi o ko lākou haki ʻana. ʻOi aku ka nui o ka haki ʻana o nā chromosomes i loko o nā hunaola o ke kanaka me FA ma mua o ke kanaka maʻamau.
- Nānā ʻana i nā ʻano hoʻoilina: Hana ʻia kēia hoʻāʻo e ʻike i ke kīnā ʻano hoʻoilina kikoʻī e kumu ai ʻo FA.
Hiki iaʻu ke ʻike inā loaʻa kēia maʻi i kaʻu pēpē i ka wā hāpai?
ʻAe. Inā he moʻolelo ʻohana o FA, hiki ke hoʻāʻo ʻia kāu pēpē no ka maʻi i ka wā hāpai. Hiki ke hana ʻia kēia me ka hoʻohana ʻana i nā hoʻokolohua e like me ka amniocentesis a i ʻole ka chorionic villus sampling . Hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i kēia a ʻike hou aku.
He aha nā lāʻau lapaʻau no kēia?
ʻAʻohe lāʻau lapaʻau no FA i kēia manawa. Eia nō naʻe, aia nā lāʻau lapaʻau kūpono e kāohi i nā hōʻailona a me nā pilikia e kū mai ana mai ia mea. Hoʻoholo ʻia ka hoʻolālā lapaʻau e ka makahiki o ka mea maʻi, ke ʻano o nā hōʻailona, a me ko lākou olakino holoʻokoʻa.
| ʻAno lapaʻau | He aha ka mea e hana ʻia i kēia? |
|---|---|
| Hoʻoili iwi iwi | ʻO kēia ka lāʻau lapaʻau maikaʻi loa no nā pilikia pili i ke koko i hoʻokumu ʻia e ka FA. Ma kēia, ua hoʻoili ʻia nā hunaola kumu iwi mai kahi kanaka olakino e pani i ka iwi maʻi. |
| Hoʻōla Androgen | Hoʻoulu kēia ʻano hormone i ka hana ʻana o ke kino i nā hunaola koko ʻulaʻula a me nā platelets. |
| Nā Kumu Ulu Hana | Hāʻawi ʻia kēia mau mea ma ke ʻano he inikini a kōkua i ka iwi iwi e hana i nā hunaola koko keʻokeʻo a me ʻulaʻula hou aʻe. |
| ʻoki kino | Hiki ke hoʻohana ʻia ke ʻoki kino e hoʻoponopono i nā ʻano kino ʻē aʻe i loaʻa i ka wā hānau (e.g., kahi pilikia me ka manamana wāwae nui). |
Nā mea e pono ai ʻoe e ʻike e pili ana i ka noho ʻana me FA
Pono ke kanaka me FA a i ʻole ka makua o ke keiki me ia e makaʻala mau.
- Ka pilikia o ke kanesa:ʻOi aku ka maʻalahi o ka poʻe me FA i nā carcinogens e like me ka paka, no laila e pale loa ʻia ka puhipaka a me ka ʻike ʻana i ka uahi lua .
- Ke pale ʻana i kou ʻili: Ma muli o ke kiʻekiʻe o ka pilikia o ka maʻi ʻili, he mea nui loa ia e uhi pono i kou ʻili a hoʻohana i ka sunscreen i ka wā e hele ai i waho i ka lā.
- E makaʻala i nā ʻeha: Ma muli o ka piʻi ʻana o ka pilikia o ke kahe ʻana o ke koko, pono ʻoe e makaʻala loa i ka wā o nā hana e hiki ai ke hōʻeha.
- Nā nānā lapaʻau maʻamau: ʻOiai ma hope o ka hoʻoili ʻana o ka iwi iwi holomua, e mau ana ka pilikia o ka maʻi kanesa, no laila he mea nui e loaʻa nā nānā lapaʻau a me nā hahai ʻana i kou ola a pau. E makaʻala i nā loli i kou kino (ʻeha maʻamau, kahe koko, luhi) a e hoʻomaopopo koke i kāu kauka inā ʻike ʻoe i kekahi.
Hiki ke paʻakikī ke ola me kēia maʻi, akā e hāʻawi kāu hui lapaʻau iā ʻoe i ke alakaʻi a me ke kākoʻo āu e pono ai. No laila, mai makaʻu e kamaʻilio me kāu kauka e pili ana i nā hopohopo āu e loaʻa ai.
Leka Lawe-Home
- ʻO ka anemia Fanconi (FA) kahi maʻi genetic laha ʻole e hoʻopilikia nui i ka iwi iwi.
- Hiki i kēia ke alakaʻi i ka hana ʻana o nā hunaola koko, nā loli kino, a me ka piʻi ʻana o ka maʻi kanesa.
- E makaʻala i nā hōʻailona e like me ka luhi pinepine, ka maeʻele, ke kahe koko maʻalahi, a me nā maʻi pinepine.
- Hiki ke ʻike pololei ʻia ka maʻi ma o nā hoʻokolohua koko kūikawā a me nā hoʻokolohua genetic.
- ʻOiai hiki i nā lāʻau lapaʻau e like me ke kāpili ʻana o ka iwi iwi ke hoʻokele pono i nā pilikia pili koko o ka maʻi, he mea nui ka nānā ʻana i ke olakino no ke ola holoʻokoʻa.
- Inā loaʻa iā ʻoe a i ʻole kāu keiki kēia maʻi, ʻaʻole ʻoe hoʻokahi. ʻO ka hana pū ʻana me kāu hui lapaʻau e hiki ke kōkua iā ʻoe e lanakila ma luna o kēia pilikia.
💬 Comments (0)
ʻAʻohe manaʻo i kau ʻia. Hoʻohui i kāu manaʻo ma ʻaneʻi no ka manawa mua.
Hoʻohui i kāu manaʻo