Ke manaʻo nei ʻoe i kekahi manawa ua nāwaliwali iki kou mau iwi a ʻoi aku ka palupalu ma mua o nā mea ʻē aʻe? Ke haki nei ʻoe i kou mau iwi me kahi mea liʻiliʻi loa? A i ʻole e hāʻule koke nā niho pēpē o kāu keiki? I kēia lā e kamaʻilio mākou e pili ana i kahi kūlana a mākou e kamaʻilio nui ʻole ai, akā he mea nui loa ia e makaʻala. Ua kapa ʻia kēia ʻo Hypophosphatasia, a i ʻole HPP no ka pōkole.
He aha maoli ka Hypophosphatasia (HPP)?
I ka ʻōlelo maʻalahi, ʻo Hypophosphatasia (HPP) kahi maʻi hoʻoilina (genetic) kakaikahi e hoʻopilikia i ke ʻano o ka ulu ʻana o ko kākou mau iwi a me nā niho. I mea e ikaika ai ko kākou mau iwi a e kōkua ko kākou mau niho iā kākou e nau a nau pono i ka meaʻai, pono lākou i nā minelala e like me ka calcium a me ka phosphorus e hoʻohui ʻia iā lākou. Ua kapa ʻia kēia kaʻina hana he "mineralization".
I loko o HPP, ʻaʻole hana pono kēia kaʻina hana i kapa ʻia ʻo 'mineralization'. ʻO ka hopena, ʻaʻole ikaika nā iwi a me nā niho, akā lilo i palupalu a maʻalahi hoʻi e palupalu. ʻOiai hiki i kēia kūlana ke hoʻopilikia wale i kekahi poʻe, hiki ke lilo i kūlana koʻikoʻi a hoʻoweliweli i ke ola no kekahi.
He aha ke kumu o ka HPP?
He mea ʻepekema iki kēia, akā e hoʻomaopopo maʻalahi kākou. E noʻonoʻo ua like ko kākou kino me kahi hale hana nui. Pono nā mea āpau e pono ai. I mea e ikaika ai nā iwi, pono mākou i nā minelala calcium a me phosphorus a mākou i ʻōlelo ai ma mua.
Akā, ʻaʻole maikaʻi ka nui o kēia kaʻina hana 'mineralization'. Eia kekahi laʻana, ʻaʻole maikaʻi no kēia mau minelala ke hōʻiliʻili i loko o ke koko. No laila, he mau kemika ko kākou i loko o ko kākou kino e kāohi i kēia.
Akā, pono i nā iwi a me nā niho ke loaʻa ka nui kūpono o kēia mau minelala. Aia kekahi enzyme kūikawā i loko o ko kākou kino e kōkua ana i kēia hana koʻikoʻi. Ua kapa ʻia ʻo ia he alkaline phosphatase (ALP) . Hoʻopau kēia enzyme i nā kemika i loko o nā iwi a me nā niho e pale ai i ka hōʻiliʻili ʻana o kēlā mau minelala. A laila hōʻiliʻili ʻia nā minelala e pono ai i loko o nā iwi a me nā niho, e hoʻoikaika ai iā lākou.
Loaʻa i ka poʻe me HPP kahi mutation i loko o ka gene i kapa ʻia ʻo `ALPL`, ka mea e pale ai i ka hana pono ʻana o ka enzyme ALP. ʻO kēia ke kumu o nā kemika e pale ai i ka hōʻiliʻili ʻana o nā minelala e hōʻiliʻili i loko o nā iwi, e pale ana i nā iwi mai ka omo ʻana i ka calcium a me ka phosphorus a lākou e pono ai. ʻO ka hopena, lilo nā iwi i palupalu a nāwaliwali ma kahi o ka ikaika.
He aha nā hōʻailona o ka HPP?
ʻOkoʻa loa nā hōʻailona o HPP. Aia lākou i ka nui o ka enzyme ALP i loko o ke kino. I ka emi ʻana o nā pae enzyme, ʻoi aku ka koʻikoʻi o nā hōʻailona. Hiki ke ʻike ʻia ke ʻano i kēlā me kēia manawa mai ka hānau ʻana a hiki i ka wā makua.
Ke ʻike ʻia kekahi poʻe mākua me HPP, hoʻomanaʻo lākou ua loaʻa iā lākou nā hōʻailona like mai ko lākou wā kamaliʻi, akā, ʻaʻole i ʻike pono ʻia i ia manawa.
E nānā kākou i nā hōʻailona nui.
| Hōʻailona | Wehewehena |
|---|---|
| Nā pilikia niho | Ka nalowale ʻana o nā niho pēpē ma mua o 5 mau makahiki a i ʻole ka nalowale ʻana o nā niho i manaʻo ʻole ʻia i kēlā me kēia makahiki. (ʻO kēia ke ʻano maʻamau - ke ʻano "odonto") |
| Nā loli i nā iwi | Nā lima a me nā wāwae kūlou, kino pōkole, iwi palupalu, nāwaliwali a kīnā paha, nā hono ākea o ka pulima a me ke kuʻekuʻe wāwae. |
| Nā pilikia pēpē | ʻO ka loaʻa ʻole ʻana o ka ulu pono ʻana a i ʻole ka ulu ʻana, ka hui ʻana o nā iwi poʻo i ka wā ʻōpiopio (hiki ke alakaʻi i ka hoʻonui ʻia o ke kaomi ma ka lolo), ka nāwaliwali o nā ʻiʻo (hypotonia) e hoʻolilo ai i nā pēpē i 'fluffy', a me nā pilikia hanu. |
| Nā haki | He maʻalahi ka haki ʻana o nā iwi i ka wā ʻōpiopio, ʻoiai ma nā wāwae a me nā puʻuwai, a he lōʻihi ka manawa e ho'ōla ai. |
| Nā hiʻohiʻona ʻē aʻe | ʻEha i nā iwi a me nā hono, paʻakikī i ka hele wāwae, piʻi aʻe ka nui o ka calcium i loko o ke koko (hiki ke luaʻi, paʻa ka ʻōpū, pilikia o nā puʻupaʻa), nā ʻōʻili, ka rumatika koʻikoʻi koke. |
Pehea e ʻike ai i kēia maʻi?
Inā loaʻa iā ʻoe a i ʻole kāu keiki kēia mau hōʻailona, e nīnau kāu kauka e pili ana i ka mōʻaukala olakino o kou ʻohana a hana i kahi hoʻokolokolo kino piha. Eia kekahi, e kauoha lākou i nā X-ray a me nā hoʻāʻo koko.
ʻO ka hoʻāʻo koʻikoʻi ma ʻaneʻi, ʻo ia ke ana i ka pae o ka enzyme ALP i loko o ke koko.I ke ʻano o HPP, haʻahaʻa pinepine kēia pae.
I kekahi manawa, hiki ke hana ʻia kahi hoʻāʻo genetic e hōʻoia inā loaʻa iā ʻoe ʻo HPP. Eia nō naʻe, ʻaʻole loaʻa kēia hoʻāʻo ma nā wahi āpau a hiki ke pipiʻi. Eia nō naʻe, i ka hapanui o nā hihia, hiki i kāu kauka ke ʻike i ka maʻi me nā hoʻāʻo ʻē aʻe.
No ka mea he maʻi laha ʻole kēia, hiki ke lōʻihi ka manawa e loaʻa ai kahi hōʻailona. No laila, inā loaʻa iā ʻoe a i ʻole kāu keiki kēia mau hōʻailona, he mea nui e hoʻomaopopo pono a kamaʻilio ākea me kāu kauka .
He aha nā lāʻau lapaʻau no ka HPP?
ʻO ka mea pōmaikaʻi, aia i kēia manawa nā lāʻau lapaʻau no HPP. No HPP, ʻoi aku hoʻi i ka poʻe i ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā kamaliʻi, hoʻohana ʻia kahi lāʻau i kapa ʻia ʻo asfotase alfa (Strensiq) . He inikini kēia i hāʻawi ʻia ma lalo o ka ʻili. Hana ia ma ka hoʻololi ʻana i ka enzyme ALP i nele i ke kino (enzyme replacement therapy).
Ma waho aʻe o kēia lāʻau lapaʻau nui, hana ʻia kekahi mau mea ʻē aʻe e kaohi i nā hōʻailona.
- Ke hāʻawi nei i nā lāʻau ʻeha (NSAID) e like me ka paracetamol a i ʻole ibuprofen no ka ʻeha o ka iwi a i ʻole nā hui.
- Inā kiʻekiʻe ke kaomi i loko o ke poʻo, hana ʻoki kino e hōʻemi ai.
- ʻO ka hāʻawi ʻana i ka wikamina B6 e kāohi i nā hopu ʻana i kekahi poʻe.
- Ka mālama ʻana i ka ʻai a i ʻole ka lāʻau lapaʻau e kaohi ai i nā pae calcium koko.
- E mālama mau i kou olakino niho a e ʻimi i ke kōkua mai ke kauka niho.
- Hoʻoikaika ka hoʻoikaika kino i nā ʻiʻo a hoʻomaikaʻi i ka neʻe ʻana.
- Ke hoʻokomo ʻana i nā koʻokoʻo metala i loko o nā iwi haʻihaʻi pinepine ʻia.
- ʻO kahi mea e hoʻomanaʻo ai, ʻo ia ka hiki i nā lāʻau ʻano bisphosphonate, i hoʻohana ʻia e mālama i nā maʻi iwi ʻē aʻe, e like me ka osteoporosis, ke hoʻonui i ka HPP. No laila, pono e pale ʻia.
Hiki ke pipiʻi kēia mau lāʻau lapaʻau, no laila he mea nui e kamaʻilio me kāu kauka e pili ana i nā pono, nā pōʻino, a me nā kumukūʻai o nā lāʻau lapaʻau.
Ke loaʻa nei ke kākoʻo i ka wā e noho pū ana me HPP
Hiki i nā haki, ka ʻeha, a me nā hōʻailona ʻē aʻe ke hoʻolilo i ke ola o kēlā me kēia lā i mea paʻakikī. ʻO ke ola ʻana me kahi maʻi laha ʻole, ʻo ia hoʻi ka ʻike pono ʻana i kou kūlana a me ka ʻōlelo ʻana nou iho. Pili paha kēia iā ʻoe a i kāu keiki paha.
E hoʻomaopopo a mahalo i kou mau palena kino. E hoʻomaha i ka wā e pono ai. ʻO ka mālama ʻana iā HPP e pono ai kahi hui multidisciplinary. Hiki i kēia ke komo pū me kahi pediatrician, orthopedic surgeon, dentist, a me ka physical therapist.
Aia kekahi mau maʻi maʻamau ʻē aʻe i loaʻa nā hōʻailona like me HPP, no laila inā kānalua ʻoe e pili ana i ka hōʻike a kāu kauka, mai makaʻu e kiʻi i ka manaʻo ʻelua mai kekahi loea ʻē aʻe.He kuleana kou ia.
ʻOiai hiki ke lōʻihi ka mālama ʻana i nā makahiki, hiki ke kaohi nui ʻia nā hōʻailona i ka hala ʻana o ka manawa.
Leka Lawe-Home
- He maʻi laha ʻole ka Hypophosphatasia (HPP) e hoʻonāwaliwali ai i nā iwi a me nā niho.
- Hiki ke ʻokoʻa loa nā hōʻailona mai kēlā kanaka a kēia kanaka, mai ka nalowale ʻana o nā niho ʻōpiopio i nā keiki ʻōpio a hiki i nā kīnā nui o ka iwi.
- He mea nui loa ka hoʻāʻo koko e nānā i nā pae haʻahaʻa o ka enzyme ALP i loko o ke koko no ka ʻike ʻana.
- I kēia manawa, aia nā lāʻau lapaʻau kūpono e kaohi ai i nā hōʻailona, me ka hoʻōla hoʻololi enzyme.
- Inā loaʻa iā ʻoe a i ʻole kāu keiki kēia mau hōʻailona, mai hopohopo a kamaʻilio koke me kāu kauka. He mea nui loa ka loaʻa ʻana o ka hōʻailona kūpono a me ka lāʻau lapaʻau.
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