Kei te āwangawanga koe mō ngā wheua o tāu tamaiti? Me ako tātou mō te XLH (X-Linked Hypophosphatemia)!

Kua tomuri tō tamaiti ki te hikoi? He ahua piko rānei ōna waewae? I ētahi wā he mea noa iho ēnei. Heoi, i ētahi wā he āhuatanga kei muri i a ia pērā i te XLH (X-Linked Hypophosphatemia) . Me kōrero tātou mō tēnei i tēnei rā, āe? Kaua e manukanuka, māku koe e āwhina kia mārama ki ēnei mea katoa.

He aha te tikanga o te XLH? Kia mārama tātou!

Ki te kī māmā noa, he mate ira te XLH (X-Linked Hypophosphatemia) . Arā, he mate e puta mai ana i tētahi panoni iti o ngā ira i roto i tō tātou tinana. Ka pā te nuinga ki ō wheua me ō niho . Kua rongo pea koe i te mate e kiia nei ko te "Rickets"? Āe, he momo rickets te XLH. Tērā pea ka uaua te hikoi a ngā tamariki nohinohi me tēnei mate, ka piko pea ō rātou waewae. Ehara i te mea koinā anake, engari tera pea ka pāngia rātou e ētahi atu raruraru pērā i te ngoikore o te uaua me te ngaronga o te rongo.

He aha ngā tohu o te XLH? Kia tūpato tātou!

Ko ngā tohu o te XLH ka puta i te wā tamarikitanga. Heoi anō, ka puta pea ētahi tohu i te wā pakeke.

Ngā tohu i roto i ngā tamariki nohinohi:

Anei ētahi mea hei aro atu māu:

• Te uaua ki te hikoi , te whakaroa rānei i te tīmatanga o te hikoi.
• Te piko o ngā waewae, te tuturi rānei o ngā turi, me te mea he pōro nui e haere ana i waenganui i ngā waewae.
• Te mamae o ngā wheua me ngā uaua. E mea pinepine ana tāu tamaiti, "Āe, e mamae ana ōku waewae"?
• Te roa kua heke (te poto).
• Te āhua kore ora, te ngenge tonu.
• Te ngoikore o te uaua.
• Ngā raruraru niho: te ngaro wawe o ngā niho pēpi, te mamae o ngā niho, te pupuhi, te pirau pinepine o ngā niho.
• Ngā panonitanga o te āhua o te upoko, o te mata rānei. I ētahi wā, ka puta tēnei i te tere rawa o te honohono o ngā wheua o te angaanga (e kiia ana ko te 'craniosynostosis').

Ngā tohu tāpiri ka puta ake i te pakeketanga:

I te pakeke haere o te hunga whai XLH, ka puta pea ētahi atu tohu. Ko ētahi o ēnei:

• Te ngaronga o te rongo.
• Te mamae o te upoko.
• Te whaiti o te awa tuaiwi (Spinal Stenosis).
• Te whakangawari o ngā wheua i roto i ngā pakeke ('Osteomalacia').
• Te ngaronga o te taurite i te wā e hikoi ana, te uaua ki te hikoi.
• Te ngaronga o ngā niho tuturu.
• Te matotoru, te whakakīkī rānei o ngā hononga, o ngā uaua rānei.
• Te pakari o ngā hononga, te uaua ki te piko.
• Te ngenge pinepine.
• Ngā whati me ngā whati rūpahu (arā, ko te āhua o te wheua he whati i te tirohanga X-ray, engari ehara i te whati katoa).

He aha te take o te XLH? He aha ai tēnei?

Āe, kia titiro tātou he aha te whanaketanga o te XLH. Ko te take o tēnei he whakarerekētanga ira i roto i te 'ira PHEX' i roto i tō tātou tinana.Ka hangaia e tēnei ira `PHEX` tētahi homoni e kiia nei ko `FGF23` (`Fibroblast Growth Factor 23`). He mea tino nui tēnei homoni `FGF23`. Nā te mea, ka āwhina i te whakahaere i te nui o te phosphate i roto i tō tātou tinana. He mea nui te phosphate hei pupuri i te hauora o ō tātou wheua.

Koinei te mea e tupu ana i te nuinga o te wā: Ki te nui te phosphate i roto i te tinana, ka mea te homoni `FGF23` ki ngā whatukuhu, "Āe, kua mutu, me whakakore te phosphate nui i roto i te mimi." Heoi, ki te hiahia te tinana ki te nui ake o te phosphate, ka heke te hanga o te homoni `FGF23`.

Nā te whakarerekētanga o te ira `PHEX` ka nui ake te homoni `FGF23` e whakaputaina ana e te tinana i tana e hiahia ana. Nā te nui rawa o tēnei homoni, ka nui ake te phosphate e tukuna ana e te tinana i roto i te mimi. Ko te wā tēnā ka ngaro te phosphate e hiahiatia ana mō ngā wheua me ngā niho, ā, ka puta ngā tohu o te XLH. E mārama ana koe?

He māmā noa iho: he panoni i roto i te ira -> ka nui ake te whakaputanga o te homoni `FGF23` -> ka nui ake te phosphate e tukuna ana i te tinana -> ka ngoikore ngā wheua.

He tuku iho te XLH?

Āe, ko tēnei āhuatanga e kiia nei ko te XLH ka tukuna iho i roto i te tauira X-linked autosomal dominant . Ko te tikanga tēnei, ki te whai ira te tangata me taua rerekētanga ira, ka pāngia rātou e te mate. Tērā pea ka pāngia ngā tama tāne .

Titiro mai, e rua ngā ira X o te kōtiro, kotahi te ira X me te ira Y o te tama. Nā te mea kotahi te ira ira (X, Y rānei) e whiwhi ai tātou katoa mai i ō tātou mātua:

• Ko te tikanga, e 50% te tūponotanga o te wahine whai XLH ki te tuku i tēnei ira ki tāna tamaiti.
• Ka tukuna e te tāne whai XLH tēnei ira ki āna tamāhine katoa , engari kāore ki āna tama.

Heoi, i ētahi wā ka pāngia te tamaiti e te XLH ahakoa kāore tētahi o ngā mātua e pāngia ana e tēnei mate. I roto i ēnei āhuatanga, ka puta noa te huringa ira.

Me pēhea koe e mōhio ai mēnā kei a koe te XLH?

Mena kei te whakapae te tākuta kei a koe te XLH, ka whakahaerehia pea e rātou ētahi whakamātautau, pēnei i:

• Ngā whakamātautau toto, mimi rānei: Ka tirohia e ēnei ngā taumata o te phosphate me te homoni FGF23 .
• Whakamātautau Ira: Tirohia mēnā he whakarerekētanga ira kei roto i te ira PHEX.
• Ngā Whakamātautau Kiato o te Wheua: Tirohia te kaha o ō wheua.
• Ngā hihi-X me ētahi atu whakamātautau whakaahua: Tirohia te āhua o ngā wheua, mehemea rānei he hapa.

He aha ngā maimoatanga mō te XLH?

Engari, kāore anō kia kitea he rongoā mō te XLH. Heoi anō, kei reira ngā maimoatanga hei āwhina i te whakahaere i ngā tohu me te pupuri i te hauora o te wheua. Ko te whāinga matua i konei ehara i te whakahoki i ngā taumata phosphate ki te āhua noa (tērā pea kāore e taea), engari ko te pupuri i te hauora o te wheua.

Hei maimoatanga, ka taea te mahi i ngā mahi e whai ake nei:

• Te hoatu i ngā tāpiringa phosphate me te calcitriol (he momo huaora D).
• Burosumab : He paturopi monoclonal tēnei e aukati ana i te homoni FGF23.
• Whakaora Tinana (PT): Whakakahangia ngā uaua, kia māmā ake ai te hikoi.
• Te Whakaora Mahi (OT): Ka āwhina i a koe ki te mahi i ngā mahi o ia rā kia māmā ake.
• Pokanga hei whakatika i ngā āhua rerekē o te wheua (hei tauira, ngā waewae piko).
• Te hoatu i ngā homoni tipu ki te hunga poto te roa.
• Ngā taputapu whakarongo mō te hunga turi ngoikore.

Hei tāpiritanga, mēnā ka puta he āhuatanga pēnei i te whati wheua, i ngā raruraru niho rānei, me mahi pokanga, me ētahi atu maimoatanga rānei.

He aha ngā mea ka taea e te tangata whai XLH te tumanako atu?

Mena kei a koe, kei tāu tamaiti rānei te XLH, he mea nui kia tere tonu te kimi i te tākuta me te whiwhi maimoatanga . Mā tēnei ka āwhina i te ārai i ngā raruraru maha. I ētahi wā, ka ngaro noa iho ētahi o ngā āhua o te wheua, kāore rānei e puta he raruraru. Heoi, i ētahi wā, me mahi pokanga, me whakaora tinana rānei hei whakatika i ēnei. He mea pai kia kōrero ki tō tākuta mō tēnei, me te pātai atu he aha ngā mea ka tumanakohia.

He aha te roanga o te oranga o te tangata whai XLH?

Kua whakaatuhia e ngā rangahau he poto ake te roa o te oranga o te tangata whai XLH i te waru tau i te tangata kāore i te mate. Heoi, kāore anō kia tino mārama ngā tohunga he aha te take o tēnei rerekētanga o te roa o te oranga.

Ka taea te ārai i te XLH?

He mate ira te XLH, nō reira kāore e taea te ārai. Heoi, ki te kitea wawe te mate, ā, ka tīmata te maimoatanga pēnei i te Burosumab, ka taea e ngā tamariki te whanake noa, ā, kāore he tohu . Mena kei a koe te XLH, ā, e hiahia ana koe ki te mōhio mō te tūponotanga ka tukuna atu ki ngā tamariki o muri mai, he mea tino nui kia kōrero koe ki tētahi kaitohutohu ira .

Mena kei a au te XLH, me pēhea taku tiaki i a au anō/taku tamaiti?

I a koe e noho tahi ana me te XLH, ka taea e ēnei mea te āwhina i a koe ki te tiaki i a koe anō me tō pēpi:

• Me whakahaere he whakamātautau ira. Mena ka whakaūtia te mate, ka taea e koe te tīmata i te maimoatanga i te wā e taea ai.
• Tirohia te tākuta niho i ia wā, kia taea ai te tautuhi wawe i ngā raruraru o ō niho me ō kapia.
• Kia mahara ki te haere ki ngā wā tirotiro i ia rā ka kite koe i tō tākuta. Kaua e wareware ki ngā mahi pēnei i te whakaora tinana (PT) me te whakaora mahi (OT). Kōrero atu ki tō tākuta mēnā he tohu hou kei a koe, mēnā rānei ka kino haere ō tohu.
• Tangohia te rongoā kua tohua kia rite ki te wā kua tohua, me te wā tika. Mena he pātai āu mō te tango i te rongoā, ki te pāngia rānei koe e ngā pānga taha, me kōrero ki tō tākuta.
• Whakakorikori tinana kia rite ki ngā taunakitanga a tō tākuta.Pātai atu ki a ia he aha ngā mahi whakakori tinana haumaru hei whakapakari i ō wheua.

Āhea ahau me toro atu ki te tākuta?

Mena he āwangawanga āu mō te hauora o tāu tamaiti, mō te mea rānei kei te tutuki i a ia ngā taumata whanaketanga, kōrero ki tō tākuta tamariki . Māna e tūtohu ētahi atu whakamātautau mēnā e tika ana.

Mena kei a koe te XLH, me toro atu ki te tākuta tonu mēnā ka puta he tohu hou, ka kino haere rānei ō tohu.

Āhea koe me haere ki te Wāhanga Maimoatanga Ohotata (ETU) ?

Tirohia te tākuta niho mēnā ka pā mai he āhuatanga ohorere ki te niho. Hei tauira:

• He mamae nui o te niho.
• Kua pakaru rawa, kua pakaru rānei te niho.
• He niho kua marere, kua tata rānei te marere (niho kua puta).
• Ka puta he whewhe niho i te pūtake o te niho, ka pupuhi te mata me te kauae.

He aha ngā pātai me pātai atu e au ki te tākuta?

He pai pea te pātai i ēnei pātai ina kite koe i tō tākuta:

• He aha ngā kōwhiringa maimoatanga e wātea ana māku/māku tamaiti?
• Me pēhea taku tiaki i te hauora wheua o taku/o taku tamaiti?
• Āhea koe me haere ki te Rūma Ohotata (ETU) ?
• Āhea ahau me kite anō i a koe?

Ka eke ngā tamariki whai XLH ki te pakeketanga?

Āe, tino tika. Ka pāngia ngā tamariki whai XLH e te pakeketanga, ā, ka tere te tipu pērā i ngā tamariki katoa. Kaua e wehi i tēnā.

Hei whakamutunga, he aha ngā mea hei maumahara

He mea whakamataku pea te tātaritanga mō te roanga o te wā e pāngia ana koe e te mate. Tērā pea ka whakaaro koe he aha te āhua o te heke mai o tāu tamaiti – me tō ake heke mai rānei – me te XLH.

Engari kia maumahara, ka taea e te hunga whai XLH te ora roa, te ora hauora. Mā te tautuhi wawe me te maimoatanga tika ka nui te āwhina ki te pupuri i ō wheua kia kaha, kia ora hoki. Kaua e mangere ki te kōrero tuwhera ki tō tākuta mō ō āwangawanga, pātai rānei. Ka taea e ia te āwhina i a koe.

` XLH, X-Linked Hypophosphatemia, ngā mate wheua, ngā mate ira, te rickets, te phosphate, te hauora o ngā tamariki, FGF23