Ke hopohopo nei ʻoe no nā iwi o kāu keiki? E aʻo kākou e pili ana i ka XLH (X-Linked Hypophosphatemia)!

Ua lohi anei kāu keiki liʻiliʻi i ka hele ʻana? A i ʻole ke ʻano kūlou iki nei ko lākou mau wāwae? I kekahi manawa he mea maʻamau kēia. Eia nō naʻe, i kekahi manawa aia paha kekahi kūlana ma hope o lākou e like me XLH (X-Linked Hypophosphatemia) . E kamaʻilio iki kākou e pili ana i kēia i kēia lā, ʻeā? Mai hopohopo, e kōkua wau iā ʻoe e hoʻomaopopo i kēia mau mea a pau.

He aha ka manaʻo o XLH? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, ʻo XLH (X-Linked Hypophosphatemia) he maʻi genetic. ʻO ia hoʻi, he kūlana i hoʻokumu ʻia e kahi loli liʻiliʻi o nā genes i loko o ko mākou kino. Hoʻopilikia nui ia i kou mau iwi a me nā niho . Ua lohe paha ʻoe i ka maʻi i kapa ʻia ʻo "Rickets"? ʻAe, ʻo XLH kahi ʻano rickets. Hiki i nā keiki ʻōpio me kēia kūlana ke paʻakikī i ka hele ʻana, kūlou paha ko lākou mau wāwae. ʻAʻole wale ia, akā loaʻa paha iā lākou nā pilikia ʻē aʻe e like me ka nāwaliwali o nā ʻiʻo a me ka nalowale o ka lohe.

He aha nā hōʻailona o XLH? E akahele iki kākou!

ʻIke pinepine ʻia nā hōʻailona o XLH i ka wā kamaliʻi. Eia nō naʻe, hiki ke ʻike ʻia kekahi mau hōʻailona i ka wā makua.

Nā hōʻailona i nā keiki liʻiliʻi:

Eia kekahi mau mea āu e makaʻala ai:

• Ka paʻakikī i ka hele wāwae a i ʻole ka lohi o ka hoʻomaka ʻana e hele.
• Ke kūlou ʻana o nā wāwae a i ʻole ke kuʻe ʻana o nā kuli, me he mea lā e hele ana kahi pōpō nui ma waena o nā wāwae.
• ʻEha i nā iwi a me nā ʻiʻo. ʻŌlelo pinepine kāu keiki liʻiliʻi, "Auē, ʻeha koʻu mau wāwae"?
• Ua emi ke kiʻekiʻe (kūpono ke kino).
• Manaʻo ola ʻole a luhi i nā manawa a pau.
• Ka nāwaliwali o nā ʻiʻo.
• Nā pilikia niho: ka nalowale ʻana o nā niho pēpē i ka wā ʻōpiopio, ka ʻeha niho, nā ʻōpū, a me ka pala pinepine o nā niho.
• Nā loli i ke ʻano o ke poʻo a i ʻole ka maka. I kekahi manawa hiki ke hana ʻia kēia e ka hui wikiwiki ʻana o nā iwi o ke poʻo (i kapa ʻia ʻo `craniosynostosis`).

Nā hōʻailona ʻē aʻe e ulu aʻe i ka wā makua:

I ka wā e ʻelemakule ai ka poʻe me XLH, hiki ke ulu aʻe nā hōʻailona hou aʻe. ʻO kēia mau mea:

• Ka nalowale o ka lohe.
• ʻEha poʻo.
• Ka hāiki ʻana o ke kahawai kuamoʻo (Spinal Stenosis).
• Ka palupalu ʻana o nā iwi i nā pākeke ('Osteomalacia').
• Ka nalowale o ke kaulike i ka wā e hele ana, ka paʻakikī ke hele wāwae.
• Ka nalowale ʻana o nā niho mau loa.
• Ka mānoanoa a i ʻole ka hoʻopaʻa ʻana o nā ligaments a i ʻole nā ​​​​tendons.
• ʻOʻoleʻa o nā hono, paʻakikī ke kūlou.
• Ka luhi pinepine.
• ʻO nā haki a me nā pseudofractures (ʻo ia hoʻi, kahi e like ai ka iwi me ka haki ma ka X-ray, akā ʻaʻole ia he haki piha).

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

ʻAe, e nānā kākou i ke kumu e ulu ai ʻo XLH. ʻO ke kumu o kēia he mutation genetic i loko o ka `PHEX gene` i loko o ko kākou kino.Hana kēia gene `PHEX` i kahi hormone i kapa ʻia ʻo `FGF23` (`Fibroblast Growth Factor 23`). He mea nui loa kēia hormone `FGF23`. No ka mea, kōkua ia i ka hoʻomalu ʻana i ka nui o ka phosphate i loko o ko mākou kino. He mea nui ka phosphate no ka mālama ʻana i ko mākou mau iwi i ke olakino.

ʻO kēia ka mea maʻamau e hana ʻia: Inā lawa ka phosphate i ko mākou kino, ʻōlelo ka hormone `FGF23` i nā puʻupaʻa, "ʻAe, ua lawa i kēia manawa, e hoʻopau kākou i ka phosphate keu i loko o ka mimi." Eia nō naʻe, inā makemake ke kino i ka phosphate hou aku, e emi ana ka hana ʻana o ka hormone `FGF23`.

I kēia manawa, ʻo ka hoʻololi ʻana i loko o ka gene `PHEX` ke kumu o ko mākou kino e hana i ka hormone `FGF23` ma mua o ka mea e pono ai. Ma muli o kēia hormone keu, hoʻopuka ke kino i ka phosphate ma mua o ka mea e pono ai i loko o ka mimi. ʻO ia ka manawa e nalowale ai ka phosphate e pono ai no nā iwi a me nā niho, a ʻike ʻia nā hōʻailona o XLH. Maopopo iā ʻoe?

I ka ʻōlelo maʻalahi: kahi loli i loko o kahi gene -> ʻoi aku ka nui o ka hormone `FGF23` i hana ʻia -> ʻoi aku ka nui o ka phosphate i hoʻokuʻu ʻia mai ke kino -> nāwaliwali nā iwi.

He hoʻoilina anei ʻo XLH?

ʻAe, ua hoʻoilina ʻia kēia kūlana i kapa ʻia ʻo XLH ma ke ʻano X-linked autosomal dominant . ʻO ke ʻano kēia inā loaʻa i kekahi ka gene me kēlā ʻano genetic, e loaʻa iā lākou ka maʻi. Hiki ke hoʻopilikia iki i nā keikikāne .

E nānā i kēia manawa, he ʻelua mau chromosome X ko ke kaikamahine, hoʻokahi chromosome X a hoʻokahi chromosome Y ko ke keikikāne. ʻOiai ua loaʻa iā kākou hoʻokahi chromosome sex (X a i ʻole Y) mai ko kākou mau mākua mai:

• ʻO ka maʻamau, he 50% ka manawa e hoʻoili ai ka wahine me XLH i kēia gene i kāna keiki.
• ʻO ke kāne me XLH e hoʻoili i kēia gene i kāna mau kaikamahine a pau , akā, ʻaʻole i kāna mau keikikāne.

Eia nō naʻe, i kekahi manawa hiki i kahi keiki ke loaʻa iā XLH ʻoiai inā ʻaʻohe o nā mākua i loaʻa iā ia. I ia mau hihia, hana ʻia ka loli genetic me ka manaʻo ʻole.

Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe ʻo XLH?

Inā kānalua ke kauka he XLH kou, hiki iā lākou ke hana i kekahi mau hoʻokolohua, e like me:

• Nā hoʻāʻo koko a mimi paha: Nānā kēia i nā pae phosphate a me FGF23 hormone .
• Hoʻāʻo Hoʻoilina: E nānā e ʻike inā he mutation i loko o ka gene PHEX.
• Nā Hoʻāʻo ʻAno Nui o ka Iwi: E nānā i ka ikaika o kou mau iwi.
• Nā kukuna X a i ʻole nā ​​hoʻokolohua kiʻi ʻē aʻe: E nānā i ke ʻano o nā iwi a inā he mau kīnā.

He aha nā lāʻau lapaʻau no XLH?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no XLH i kēia manawa. Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a mālama i ke olakino o ka iwi. ʻO ka pahuhopu nui ma ʻaneʻi ʻaʻole ia e hoʻihoʻi i nā pae phosphate i ka maʻamau (ʻaʻole paha e hiki), akā, e mālama i ke olakino o ka iwi.

Hiki ke hana i kēia mau mea ma ke ʻano he lāʻau lapaʻau:

• Ke hāʻawi ʻana i nā mea hoʻohui phosphate a me ka calcitriol (kahi ʻano wikamina D).
• Burosumab : He antibody monoclonal kēia e ālai ana i ka hormone FGF23.
• Hoʻōla Kino (PT): Hoʻoikaika i nā ʻiʻo a maʻalahi ka hele wāwae.
• ʻO ka Lapaʻau Hana (OT): Kōkua iā ʻoe e hana i nā hana o kēlā me kēia lā me ka maʻalahi.
• ʻO ke ʻoki kino e hoʻoponopono ai i nā kīnā o ka iwi (e.g., nā wāwae kūlou).
• ʻO ka hāʻawi ʻana i nā hormones ulu i ka poʻe pōkole ke kiʻekiʻe.
• Nā mea kōkua hoʻolohe no ka poʻe lohe ʻole.

Eia kekahi, inā loaʻa nā mea e like me ka haki iwi a i ʻole nā ​​​​pilikia niho, pono lākou i ke ʻoki ʻana a i ʻole kekahi lāʻau ʻē aʻe.

He aha ka mea hiki i kekahi me XLH ke manaʻo?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka XLH, he mea nui e loaʻa kahi hōʻailona a me ka lāʻau lapaʻau i ka wā hikiwawe loa . Hiki i kēia ke kōkua i ka pale ʻana i nā pilikia he nui. I kekahi manawa, hiki i kekahi mau kīnā o ka iwi ke hele wale aku, a i ʻole ʻaʻole paha lākou e hoʻopilikia. Eia nō naʻe, i kekahi mau hihia, pono paha ke ʻoki kino a i ʻole ka hoʻōla kino e hoʻoponopono iā lākou. He manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i kēia a nīnau i ka mea e manaʻo ai.

He aha ke kūlana ola o kekahi me XLH?

Ua hōʻike ʻia nā noiʻi e hiki i ke ola o kekahi me XLH ke ʻoi aku ma kahi o ʻewalu mau makahiki ma mua o kekahi me ka ʻole o ke ʻano. Eia nō naʻe, ʻaʻole maopopo i nā loea ke kumu o kēia ʻokoʻa o ke ola.

Hiki ke pale ʻia ka XLH?

He maʻi hoʻoilina ka XLH, no laila ʻaʻole hiki ke pale ʻia. Eia nō naʻe, inā ʻike mua ʻia ka maʻi a hoʻomaka ʻia ka lāʻau lapaʻau e like me Burosumab, hiki i nā keiki ke ulu maʻamau a me ka ʻole o nā hōʻailona . Inā loaʻa iā ʻoe ka XLH a makemake ʻoe e ʻike e pili ana i ka hiki ke hoʻoili iā ia i nā keiki e hiki mai ana, he mea nui loa ia e kamaʻilio me kahi kākāʻōlelo hoʻoilina .

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

I ka wā e noho ana me XLH, hiki i kēia mau mea ke kōkua iā ʻoe e mālama iā ʻoe iho a me kāu pēpē:

• E hana i ka hoʻāʻo ʻana i ka genetics. Inā ua hōʻoia ʻia ka maʻi, hiki iā ʻoe ke hoʻomaka i ka lāʻau lapaʻau i ka wā hikiwawe loa.
• E ʻike pinepine i ke kauka niho. E kōkua kēia iā ʻoe e ʻike i nā pilikia me kou mau niho a me kou mau ʻāʻī i ka wā mua.
• E hōʻoia e hele i nā hālāwai hoʻomaʻamaʻa i kēlā me kēia lā āu e ʻike ai i kāu kauka. Mai hoʻokuʻu i nā mea e like me ka hoʻōla kino (PT) a me ka hoʻōla hana (OT). E haʻi i kāu kauka inā loaʻa iā ʻoe kekahi mau hōʻailona hou a i ʻole inā e ʻoi aku ka ʻino o kāu mau hōʻailona.
• E lawe i kāu lāʻau lapaʻau i kuhikuhi ʻia e like me ke kuhikuhi ʻia, i ka manawa kūpono. Inā he mau nīnau kāu e pili ana i ke ʻano o ka lawe ʻana i kāu lāʻau lapaʻau, a inā paha e loaʻa iā ʻoe kekahi mau hopena ʻaoʻao, e haʻi i kāu kauka.
• E hana i ka hana kino e like me ka ʻōlelo a kāu kauka.E nīnau iā ia i nā hoʻomaʻamaʻa palekana e hoʻoikaika ai i kou mau iwi.

Āhea wau e ʻike ai i ke kauka?

Inā he mau hopohopo kāu e pili ana i ke olakino o kāu keiki a i ʻole inā e hoʻokō ana lākou i nā pae hoʻomohala, e kamaʻilio me kāu kauka keiki . E paipai ʻo ia i nā hoʻokolohua hou aʻe inā pono.

Inā loaʻa iā ʻoe ʻo XLH, e ʻike koke i ke kauka inā loaʻa iā ʻoe nā hōʻailona hou a i ʻole inā e ʻoi aku ka ʻino o kāu mau hōʻailona.

I ka manawa hea ʻoe e pono ai e hele i ka Emergency Treatment Unit (ETU) ?

E ʻike i ke kauka niho i ka wā e loaʻa ai kahi pilikia niho. Eia kekahi laʻana:

• ʻEha niho nui.
• Ua haki a haki paha ka niho.
• He niho i wehe ʻia a kokoke paha e puka mai (niho i hoʻopuka ʻia).
• Hoʻomaka kahi abscess niho ma ke aʻa o ka niho, e hoʻoulu ai i ka pehu o ka maka a me ka ʻā.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka?

He mea kōkua paha ke nīnau i nā nīnau e like me kēia ke ʻike ʻoe i kāu kauka:

• He aha nā koho lapaʻau i loaʻa iaʻu/kaʻu keiki?
• Pehea e hiki ai iaʻu ke pale i ke olakino iwi o kaʻu/kaʻu keiki?
• Āhea ʻoe e hele ai i ka lumi pilikia (ETU) ?
• Āhea wau e ʻike hou ai iā ʻoe?

Hiki anei nā keiki me XLH i ka wā ʻōpio?

ʻAe, ʻoiaʻiʻo nō. Hele nā ​​keiki me XLH i ka wā ʻōpio a loaʻa iā lākou ka ulu wikiwiki e like me nā keiki ʻē aʻe. Mai makaʻu i kēlā.

ʻO ka mea hope loa, he aha e hoʻomanaʻo ai

Hiki ke hopohopo iki ka ʻike ʻia ʻana he maʻi no ke ola holoʻokoʻa. E noʻonoʻo paha ʻoe i ke ʻano o ka wā e hiki mai ana o kāu keiki - a i ʻole kou wā e hiki mai ana - me XLH.

Akā e hoʻomanaʻo, hiki i ka poʻe me XLH ke ola lōʻihi a olakino. ʻO ka ʻike mua ʻana a me ka mālama kūpono e kōkua nui i ka mālama ʻana i kou mau iwi i ikaika a olakino. Mai kānalua e kamaʻilio ākea me kāu kauka e pili ana i nā hopohopo a nīnau paha āu e loaʻa ai. E hiki iā ia ke kōkua iā ʻoe.

ʻXLH , X-Linked Hypophosphatemia, Maʻi Iwi, Maʻi Hoʻoilina, Rickets, Phosphate, Ola Kino o nā Keiki, FGF23