Ua nāwaliwali kou mau iwi a me kou mau niho? E aʻo kākou e pili ana i kēia maʻi laha ʻole (Hypophosphatasia)

Ua lohe paha ʻoe i kahi maʻi kahi e nāwaliwali ai nā iwi a me nā niho a palupalu? Ua ʻike paha ʻoe i kekahi o kou ʻohana a i ʻole ke keiki a kahi hoaaloha i loaʻa i kēia pilikia. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi loa e ʻike ai. Ua kapa ʻia ʻo ia he hypophosphatasia, a i ʻole HPP.

He aha ka Hypophosphatasia?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi ka hypophosphatasia (HPP). Hoʻopilikia nui ia i ke ʻano o ka ulu ʻana o kou mau iwi a me kou mau niho. I ka pololei, ʻo kēia maʻi ke kumu o kou mau iwi a me kou mau niho ʻaʻole i ikaika a mānoanoa e like me ka mea e pono ai. Ma ke ʻano lapaʻau, ʻaʻole lākou e mineralize a calcify pono. Hāʻule ia ma lalo o ka māhele o ka maʻi iwi metabolic.

E noʻonoʻo, ua like ko kākou mau iwi me nā kia sima i loko o kahi hale, pono lākou e ikaika. Pono lākou i ka nui kūpono o nā minelala e like me ka calcium a me ka phosphorus. ʻAʻole hana pono kēia kaʻina hana i loko o ke kino o kekahi me HPP. ʻO ka hopena, lilo nā iwi i palupalu a nāwaliwali.

Hiki ke ʻokoʻa loa ke koʻikoʻi o ka HPP mai kēlā kanaka a kēia kanaka. Loaʻa paha i kekahi poʻe he ʻano palupalu e like me nā haki koʻikoʻi mai nā ulia pinepine i ka wā waena. Eia nō naʻe, i kekahi mau hihia, hiki ke koʻikoʻi loa a hiki i ka pēpē ke make i loko o ka ʻōpū (hānau make) a i ʻole i loko o kekahi mau lā o ka hānau ʻana.

He aha nā ʻano nui o ka hypophosphatesia (HPP)?

Ua māhele ʻia ʻo HPP i ʻehiku mau ʻano nui. Ua hoʻokaʻawale ʻia kēia mau mea e like me ka makahiki e hoʻomaka ai nā hōʻailona a me ke koʻikoʻi o ka maʻi. E nānā kākou i ke ʻano o lākou, mai ka mea koʻikoʻi loa a i ka mea liʻiliʻi loa:

• HPP perinatal koʻikoʻi: ʻO kēia ke ʻano koʻikoʻi loa.
• ʻO ka HPP palupalu e kū mai ana ma mua o ka hānau ʻana (perinatal): I kēia hihia, ʻike ʻia kekahi ulu ʻana o ka iwi.
• HPP pēpē: He ʻano e kū mai ana ma hope o ka hānau ʻana.
• HPP no ke kamaliʻi: Hiki i kēia ke akahai a koʻikoʻi paha.
• HPP pākeke: ʻIke ʻia nā hōʻailona ma hope o ka wā makua.
• ʻOdontohypophosphatasia: Hoʻopilikia kēia i nā niho wale nō. Hāʻule koke nā niho pēpē.
• Pseudohypophosphatasia: He mea kākaʻikahi loa kēia. ʻOiai he maʻamau ka pae alkaline phosphatase i loko o ke koko, ua like nā hōʻailona me nā HPP pēpē.

Pehea ka maʻamau o kēia maʻi i kapa ʻia ʻo HPP?

ʻO ka ʻoiaʻiʻo, he maʻi laha ʻole ka HPP i ka heluna kanaka maʻamau. Hoʻopilikia nā hihia koʻikoʻi o ka HPP ma kahi o hoʻokahi i loko o 100,000 a i hoʻokahi i loko o 300,000 mau pēpē i hānau ʻia i kēlā me kēia makahiki. Eia nō naʻe, ʻoi aku ka liʻiliʻi o nā ʻano ʻoluʻolu o ke ʻano, e like me ka HPP makua. ʻO ia hoʻi, ma kahi o hoʻokahi i loko o 6,000 a i 7,000 mau kānaka e hoʻopilikia ʻia paha.

ʻOi aku ka maʻamau o ka maʻi i waena o ke kaiāulu Mennonite ma Manitoba, Kanada, kahi i hōʻike ʻia ai ma kahi o hoʻokahi i loko o 2,500 mau pēpē e loaʻa i ka HPP koʻikoʻi.

He aha nā hōʻailona o ka hypophosphatesia (HPP)?

ʻOkoʻa loa nā hōʻailona o HPP. Hiki ke ʻokoʻa nā hōʻailona i loko o ka ʻohana hoʻokahi. ʻO ka maʻamau, hilinaʻi nā hōʻailona āu e ʻike ai i ke ʻano o ka HPP āu e loaʻa ai.

Nā hōʻailona o ka HPP Perinatal

Hiki i nā kauka ke ʻike pinepine i kēia mau hiʻohiʻona o ka pēpē i ka wā o nā scan ultrasound i hana ʻia i ka wā hāpai:

• Nā lima a me nā wāwae pōkole, kūlou, ʻaʻole i ulu pono (ʻaʻole i hoʻokomo ʻia nā minerale).
• Nā iwi ʻaoʻao umauma i ulu pono ʻole.
• Nā ʻano kīnā o ka umauma (flail chest).

Hiki i kekahi mau hāpai keiki ke pau i ka hānau make ʻana. Hiki i kekahi mau pēpē ke make i loko o kekahi mau lā ma hope o ka hānau ʻana ma muli o ka pilikia hanu i hoʻokumu ʻia e ka nāwaliwali o ka umauma.

Nā hōʻailona o ka HPP benign perinatal

Hiki i nā pēpē me kēia maʻi ke hānau ʻia me nā lima a me nā wāwae kūlou. Hiki i nā kauka ke ʻike i kēia i ka wā o nā ultrasounds i ka wā hāpai.

Eia nō naʻe, ma hope o ka hānau ʻana, e holomua mālie kēia mau ʻano iwi. Hiki i nā hōʻailona ma hope ke ʻano like ʻole mai ka HPP pēpē a i ka odontohypophosphatasia.

Nā ʻano o ka HPP pēpē

ʻO ka maʻamau, hoʻomaka nā hōʻailona o ka HPP pēpē e ʻike ʻia ma kahi o ʻeono mahina o ka makahiki.

• Nā pilikia o ka ulu ʻana a me ka loaʻa ʻana o ke kaumaha.
• Ka nalowale mua ʻana o nā niho pēpē.
• ʻO ka hui ʻana o nā iwi poʻo (craniosynostosis), hiki ke hoʻololi i ke ʻano o ke poʻo (brachycephaly).
• Hoʻonui ʻia ke kaomi i loko o ke poʻo (intracranial hypertension). Hiki i kēia ke kumu i ka ʻeha poʻo a me nā maka puʻupuʻu (proptosis).
• Nā iwi palupalu, kīnā e like me ka rickets.
• Ka hoʻonui ʻia ʻana o nā iwi ma ka pulima a me ka kuʻekuʻe wāwae.
• Nā kīnā o ka umauma a me nā iwi ʻaoʻao a me ko lākou mau haki.
• Paʻakikī ka hanu ʻana.
• Ke kuni i hele pū me ka ʻeha o ka iwi.
• ʻAʻohe leo o nā ʻiʻo (hypotonia). Ua kapa pū kekahi poʻe i kēia "floppy infant syndrome".
• Hoʻonui ʻia ka nui o ka calcium i loko o ke koko (hypercalcemia). Hiki i kēia ke kumu i ka luaʻi ʻana, ka paʻa ʻana o ka ʻōpū, ka luhi, a me ka nalowale o ka makemake e ʻai.
• I ka manawa kākaʻikahi, hiki ke loaʻa nā hopu ʻana.

I kekahi mau hihia, hiki i kēia mau pilikia mineralization iwi i loko o ka HPP pēpē ke hoʻomaikaʻi koke i ka wā kamaliʻi. Eia nō naʻe, he mea nui e ʻimi i ka lāʻau lapaʻau e pale aku i nā pilikia mau loa (e.g., ke kino pōkole, nā kīnā o ka iwi).

Nā Hōʻailona o ka HPP o nā Keiki

Hiki i ka HPP o nā keiki ke ʻano mai ka ʻoluʻolu a i ka ʻino. Hiki i nā hōʻailona ke komo pū me:

• ʻO ka pohō ʻana o ka nui o ka mineral iwi kūpono i ka makahiki a me nā haki kūlohelohe (ʻo ia ka hiʻohiʻona nui o ka HPP akahai).
• ʻO ka hui wikiwiki ʻana o nā iwi poʻo (craniosynostosis) a me ka hopena o ka hoʻonui ʻia ʻana o ke kaomi i loko o ke poʻo (intracranial hypertension).
• Nā ʻano kīnā o ka iwi e ʻike ʻia a puni ka makahiki 2-3.
• ʻEha iwi a me nā hono.
• Ka nalowale mua ʻana o nā niho lau nahele. ʻO ka maʻamau, hoʻokahi a ʻoi aku paha nā niho e hāʻule ana ma mua o 5 mau makahiki.
• Ka nāwaliwali a me ka lohi o ka hele wāwae (ʻaʻole e lawe i ka ʻanuʻu mua i ka 18 mahina).
• He hele wāwae.

I kekahi manawa, hiki i ka HPP o nā kamaliʻi ke hoʻomaikaʻi koke i ka wā ʻōpio. Eia nō naʻe, hiki ke hoʻi hou nā pilikia i ka wā waena a i ʻole ka wā ʻelemakule.

Nā Hōʻailona o ka HPP Pākeke

He ʻokoʻa loa nā hōʻailona o ka HPP makua. ʻO lākou pū kekahi:

• Ka palupalu ʻana o nā iwi (osteomalacia).
• ʻEha iwi.
• ʻO ka nalowale ʻana o nā niho mau loa (ua loaʻa paha i kekahi poʻe mākua me HPP nā rickets i ko lākou wā kamaliʻi, a ua nalowale paha ko lākou mau niho pēpē i ka wā ʻōpiopio).
• ʻO nā haki, ʻoiai hoʻi nā haki koʻikoʻi o nā iwi metatarsal a i ʻole nā ​​​​pseudofractures (nā wahi wehe) o ka femur.
• ʻEha mau a me ka nāwaliwali i hoʻokumu ʻia e ka haki pinepine ʻana o ka iwi.
• Hoʻopaʻa ʻia nā waihona kalipuna a puni nā hono, e hoʻoulu ai i ka mumū o nā hono (calcific periarthritis) a/a i ʻole ka ʻeha.
• ʻEha koke a koʻikoʻi nā hono (chondrocalcinosis a i ʻole pseudogout, i hoʻokumu ʻia e nā waihona calcium i loko o ke cartilage).

Nā hōʻailona o ka Odontohypophosphatasia

Hoʻopilikia wale kēia ʻano i kou mau niho - ʻaʻole i hoʻopilikia ʻia nā iwi o kou iwi. ʻO ka hōʻailona nui, ʻo ia ka hāʻule ʻana o nā niho pēpē i ka wā ʻōpiopio, ʻo ia hoʻi i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. Hiki i kekahi poʻe ke nalowale ko lākou mau niho mau loa me ka manaʻo ʻole i ko lākou wā ʻelemakule.

He aha ke kumu o ka hypophosphatesia (HPP)?

ʻO ke kumu nui o HPP, ʻo ia nā ʻano like ʻole o ka genetics. ʻO ke kikoʻī, ua hoʻokumu ʻia e nā mutations i loko o ka gene ALPL . ʻO ka maʻamau, kuhikuhi ka gene ALPL i ko mākou kino e hana i kahi enzyme i kapa ʻia ʻo Tissue-Nonspecific Alkaline Phosphatase (TNSALP) . He mea nui kēia enzyme no ko mākou mau iwi a me nā niho e mineralize pono ai, ʻo ia hoʻi e lilo lākou i ikaika.

E noʻonoʻo i kēia enzyme TNSALP e like me ke ʻenekinia nui ma kahi hale hana hana iwi. Inā ʻaʻole ia e hana pono, e emi ana ke ʻano o nā waiwai (ʻo ia hoʻi, nā iwi) e puka mai ana mai ka hale hana.

Ke pale aku nā loli i ka gene ALPL i ka hana pono ʻana o ka enzyme TNSALP, ʻaʻole hiki iā ia ke hana pono i kāna hana.

ʻO ka mineralization iwi ke kaʻina hana e hoʻopiha ʻia ai ka matrix iwi me kahi mea paʻa e like me ka calcium phosphate. Hana ʻia kēia matrix iwi me nā protein e like me ke collagen a me nā minelala e like me ka calcium a me ka phosphate.

ʻO nā ʻano koʻikoʻi loa o ka HPP i hoʻokumu ʻia e nā loli genetic e ālai loa i ka hana o ka enzyme TNSALP. ʻO nā loli genetic ʻē aʻe e hōʻemi ana i ka hana o ka enzyme TNSALP, akā ʻaʻole e ālai loa iā ia, e hoʻoulu i nā ʻano maʻi ʻoluʻolu ʻole.

Pehea i hoʻoilina ʻia ai ka hypophosphatasia (HPP)?

Hoʻoilina ʻia nā ʻano koʻikoʻi o ka HPP, e like me ka HPP perinatal, ma ke ʻano autosomal recessive. ʻO ke ʻano kēia, pono nā mākua ʻelua e hoʻoili i ka gene ALPL i hoʻololi ʻia i kā lāua keiki. ʻO ka pinepine, ʻaʻole i loaʻa i nā mākua nā hōʻailona o ka HPP a ʻaʻole lākou i ʻike he lawe lākou i ka ʻokoʻa o ka gene, no laila e kahaha paha ke keiki i ka wā e ulu ai ka maʻi.

Hiki ke hoʻoilina ʻia nā ʻano HPP ʻoluʻolu ma ke ʻano autosomal recessive a i ʻole autosomal dominant. ʻO ke ʻano autosomal dominant ʻo ia hoʻi hiki i kahi keiki ke loaʻa i ka maʻi ʻoiai inā hoʻokahi makua wale nō e hoʻoilina i ka gene ALPL i hoʻololi ʻia .

Pehea e ʻike ʻia ai ka hypophosphatesia (HPP)?

Hoʻohana nui nā kauka i nā hoʻokolohua kino, nā hoʻokolohua kiʻi, a me nā hoʻokolohua hoʻokolohua e ʻike ai i ka HPP. Hiki i ke kauka i kamaʻāina i ka maʻi ke ʻike koke iā ia. Eia nō naʻe, ʻo ke kauka i kamaʻāina ʻole i ka HPP e lōʻihi paha ka manawa e hana ai i kahi hōʻailona.

ʻO nā hoʻokolohua e kōkua i ka ʻike ʻana i ka HPP:

• Hoʻāʻo koko Alkaline Phosphatase (ALP): ʻO ALP kahi enzyme e pili ana i ka nui o ka mineral iwi. ʻO ka poʻe me HPP he haʻahaʻa ko lākou mau pae ALP me ka ʻelemakule. Eia nō naʻe, ʻaʻole hiki i kēia hoʻāʻo wale nō ke hōʻoia i ka maʻi, no ka mea, hiki i nā kūlana ʻē aʻe ke kumu i nā pae ALP haʻahaʻa.
• Hoʻāʻo koko Pyridoxal 5ʹ-phosphate (PLP): ʻO ka PLP kahi ʻano o ka huaora B6. ʻO ka poʻe me HPP he kiʻekiʻe aʻe ko lākou mau pae o ka PLP.
• Nā kukuna X-ray: I nā hihia koʻikoʻi o HPP, hiki i nā kukuna X-ray ke hōʻike i nā kīnā o ka iwi e pili ana i ka maʻi. Eia nō naʻe, no ka mea aia nā kumu ʻē aʻe o nā pilikia iwi, ʻaʻole paha e ʻike koke ke kauka o kāu keiki iā ia he HPP.
• Hoʻāʻo ʻana i ka genetics: Hiki i kēia ke ʻike i nā ʻokoʻa o ka gene ALPL e hoʻoulu ai i ka HPP. Eia naʻe, ʻaʻole i hana ʻia kēia hoʻāʻo ma nā keʻena hoʻokolohua āpau.

Pehea e mālama ʻia ai ka hypophosphatasia (HPP)?

ʻAʻohe lāʻau lapaʻau no HPP i kēia manawa. Eia nō naʻe, ʻo Asfotase alfa (Strensiq®)ʻO ka lāʻau lapaʻau nui no kēia he lāʻau pale i kapa ʻia ʻo TNSALP. Hāʻawi ʻia ia ma ke ʻano he inikini subcutaneous a hana ia ma ke ʻano he lāʻau lapaʻau pani enzyme. Hiki ke hoʻohana ʻia i nā keiki a me nā pākeke i loaʻa nā hōʻailona e hoʻomaka ana i ka wā kamaliʻi.

Ua hōʻike ʻia nā noiʻi hiki i ka lāʻau Asfotase alfa ke hoʻomaikaʻi i ka hanu ʻana, nā pae calcium, ke olakino o ka iwi, a me ke ola ʻana o nā keiki me ka HPP pēpē a me nā ʻōpio.

ʻO nā lāʻau lapaʻau ʻē aʻe e kālele ana i ka mālama ʻana i nā hōʻailona a me nā pilikia kikoʻī. Pono paha kāu keiki i kahi hui o nā loea e mālama iā lākou. Hiki i kēia mau mea ke komo pū me:

• Nā Kauka Lapaʻau Keiki
• Nā kauka orthopedist
• Nā kauka endocrinologist pediatric
• Nā kauka neurosurgeon keiki
• Nā kauka nephrologists
• ʻO nā Periodontist (nā loea i nā ʻiʻo a puni nā niho)
• Nā loea hoʻokele ʻeha
• Nā mea hoʻōla kino
• Nā mea lapaʻau hana

ʻO kekahi mau hiʻohiʻona o nā lāʻau lapaʻau kākoʻo:

• Kākoʻo hanu no nā pilikia hanu.
• Ka lāʻau lapaʻau mahiole a i ʻole ke ʻoki kino no ka craniosynostosis.
• Ke kau ʻana i kahi shunt a i ʻole ke ʻoki poʻo e mālama ai i ka hoʻonui ʻia o ke kaomi i loko o ke poʻo (intracranial hypertension).
• ʻO ka Vitamin B6 no ka hopu ʻana i hana ʻia e HPP.
• Ka mālama niho maʻamau mai ka wā ʻōpiopio e loiloi i nā pilikia niho.
• ʻO ka hoʻopaʻa ʻana i ka calcium meaʻai, kekahi mau diuretics, a me nā inikini calcitonin hiki ke hoʻonui i nā pae calcium koko (hypercalcemia).
• Nā lāʻau anti-inflammatory nonsteroidal (NSAIDs) no ka ʻeha o ka iwi a me nā hono.
• Pono paha nā haki i nā ʻōpeʻapeʻa, nā ʻāpana pale, a i ʻole ke ʻoki ʻana e hoʻoponopono ai i nā iwi haʻihaʻi (hoʻopaʻa kūloko).

He aha kaʻu e manaʻo ai inā loaʻa ka hypophosphatasia (HPP) i kaʻu keiki?

He mea nui e hoʻomanaʻo i kēia: ʻAʻohe ʻelua poʻe me HPP i hoʻopilikia like ʻia. ʻAʻohe mea hiki ke wānana pololei pehea e ulu ai kāu keiki i ke kūlana i ko lākou ulu ʻana. ʻO ka mea maikaʻi loa āu e hana ai, inā hiki, e kamaʻilio me ke kauka loea i ka noiʻi ʻana a me ka mālama ʻana iā HPP. Hiki iā lākou ke haʻi iā ʻoe i nā hōʻailona a i ʻole nā ​​​​loli e makaʻala ai a me nā mea e hiki mai ana.

Hiki ke pale ʻia ka hypophosphatesia (HPP)?

ʻOiai he maʻi hoʻoilina ʻo HPP , ʻaʻole hiki ke pale ʻia.

Inā ʻoe e hopohopo nei e pili ana i ka hoʻoili ʻana i ka hypophosphatesia a i ʻole nā ​​​​maʻi genetic ʻē aʻe i kāu mau keiki, e kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic .

Pehea e mālama ai au i kaʻu keiki me HPP?

Inā loaʻa i kāu keiki ka HPP, he mea nui e komo ʻoe e hōʻoia i ka loaʻa ʻana o ka mālama olakino maikaʻi loa. ʻAʻole paha i ʻike nui kekahi o nā kauka āu e ʻike ai e pili ana i kēia maʻi laha ʻole. No laila, ma ke kākoʻo ʻana i kāu keiki, hiki iā ʻoe ke kōkua iā lākou e loaʻa ke ʻano ola maikaʻi loa.

E makemake paha ʻoe a me kou ʻohana e noʻonoʻo e hui pū me kahi hui kākoʻo. E hāʻawi kēia iā ʻoe i ka manawa kūpono e hālāwai ai me nā poʻe ʻē aʻe i hele i nā ʻike like me ʻoe, e kamaʻilio, a e kaʻana like i nā manaʻo.

Āhea e pono ai i kaʻu keiki ke ʻike i ke kauka?

Inā loaʻa i kāu keiki ka hypophosphatasia, pono lākou e hālāwai me kā lākou hui lapaʻau i nā manawa a pau e loaʻa ka lāʻau lapaʻau a nānā i nā hōʻailona.

Hiki ke paʻakikī ka hoʻomaopopo ʻana i ka maʻi HPP o kāu keiki. Akā e hoʻomanaʻo, e hāʻawi ka hui mālama ola o kāu keiki iā lākou i kahi hoʻolālā hoʻokele a me ka nānā ʻana ikaika e pili pono ana iā lākou. He mea nui e hōʻoia iā ʻoe, kāu keiki, a me kou ʻohana e loaʻa ke kākoʻo e pono ai lākou, a e noho kālele ana i ke olakino o kāu keiki. Aia ka hui mālama ola o kāu keiki ma aneʻi e kākoʻo iā ʻoe i kēlā me kēia ʻanuʻu o ke ala.

He aha ka manaʻo lawe home a mākou e makemake ai e lawe mai kēia moʻolelo?

He maʻi laha ʻole ka Hypophosphatasia e hoʻopilikia ai i ka ikaika o nā iwi a me nā niho. ʻOkoʻa ke koʻikoʻi o kēia maʻi mai kēlā kanaka a kēia kanaka. He mea nui ka ʻike mua ʻana a me ka mālama pono ʻana.

• No ka mea he maʻi hoʻoilina ʻo HPP, ʻaʻole hiki ke pale ʻia.
• Hiki ke hoʻomaka nā hōʻailona i kēlā me kēia manawa, mai ka hānau ʻana a hiki i ka wā makua.
• ʻO ka mea nui loa, ʻo ia ka ʻike koke ʻana i ka maʻi a me ka ʻimi ʻana i ka lāʻau lapaʻau mai nā kauka loea.
• Hiki i nā lāʻau lapaʻau o kēia manawa (ʻoi aku ka asfotase alfa) ke kāohi i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola.
• Inā he mau nīnau hou aku kāu e pili ana i kēia, mai makaʻu e kamaʻilio me kāu kauka. E kōkua lākou iā ʻoe.

E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā kumuwaiwai a me nā hui kākoʻo e hiki ke kōkua i ka poʻe e noho nei me kēia mau kūlana a me ko lākou mau ʻohana.

ʻO Hypophosphatasia, HPP, nā maʻi genetic, nāwaliwali o ka iwi, nā maʻi niho, nā maʻi pediatric, alkaline phosphatase