Neurofibromatosis Momo 1

Ko te neurofibromatosis momo 1 (NF1) he āhuatanga ira e pā ana ki ngā huringa o te kiri me ngā pūngāwerewere i runga i te kiko pūtau. Kei roto i ngā huringa o te kiri ngā tohu parauri mā, ngā tohu pango iti i roto i ngā kauae me te pūkahukahu. Ka taea e ngā pūngāwerewere te tipu i ngā wāhi katoa o te pūnaha io, tae atu ki te roro, te iwi o te tuara me ngā io. He onge te NF1. Ko te 1 o te 2,500 te tokomaha e pā ana ki te NF1. Ko te nuinga o ngā pūngāwerewere ehara i te mate pukupuku, e mohiotia ana ko ngā pūngāwerewere pai. Engari i etahi wā ka taea te mate pukupuku. Ko te nuinga o ngā tohu he ngawari. Engari ka puta mai ngā raruraru ka uru atu ki te raru o te ako, ngā āhuatanga o te ngakau me ngā oko toto, te ngaro o te tirohanga, me te mamae. Ko te maimoatanga e aro nui ana ki te tautoko i te tipu hauora me te whanaketanga i ngā tamariki me te whakahaere wawe o ngā raruraru. Mena ka puta mai ngā pūngāwerewere nui, nā te NF1 rānei, ngā pūngāwerewere e pēhi ana i te io, ka taea e te pokanga te whakaiti i ngā tohu. Kei te wātea tētahi rongoā hou hei whakaora i ngā pūngāwerewere i ngā tamariki, ā, kei te whakawhanakehia ētahi atu maimoatanga hou.

Ko te Neurofibromatosis momo 1 (NF1) te nuinga o te wā ka tautuhia i te wā tamariki. Ka kitea ngā tohu i te whānau, i muri tata mai rānei, ā, tata tonu i te tau 10. He ngawari ki te reo, he tino nui rānei ngā tohu, engari ka rerekē mai i te tangata ki te tangata. Kei roto i ngā tohu: Ngā pango parauri mā, papatahi kei runga i te kiri, e kiia ana ko ngā pango kīhini. He maha ngā tāngata e whai ana i ēnei pango kore kino. Engari, ki te neke atu i te ono ngā pango kīhini, ka āhei te NF1. Kei te noho tonu rātou i te whānau, i te wā rānei o ngā tau tuatahi o te ora. I muri i te tamarikitanga, ka mutu te puta mai o ngā pango hou. Te kiri-pango i ngā kauae, i ngā wāhi pūkahukahu rānei. Ka puta mai te kiri-pango i te tau 3 ki te 5. He iti ake ngā kiri-pango i ngā pango kīhini, ā, ka puta mai i ngā rōpū i roto i ngā kopiko kiri. Ngā puku iti kei runga i te iris o te kanohi, e kiia ana ko ngā nodules Lisch. Kāore e taea te kite ngāwari i ēnei nodules, ā, kāore e pā ki te tirohanga. Ngā puku ngawari, rite te rahi ki te pī, kei runga, kei raro rānei i te kiri, e kiia ana ko ngā neurofibromas. Ko ēnei mate pūngāwerewere pai te nuinga o te wā ka tipu ki roto, ki raro rānei i te kiri, engari ka taea hoki te tipu ki roto i te tinana. Ko te tipu e pā ana ki ngā io maha e kiia ana ko te plexiform neurofibroma. Ko ngā plexiform neurofibromas, ina kei runga i te mata, ka taea te whakaiti i te ahua. Ka taea te whakanui ake i te maha o ngā neurofibromas me te pakeke. Ngā huringa wheua. Ka taea e ngā huringa i te whanaketanga wheua me te iti o te nui o te mīnerare wheua te whakakotahi i ngā wheua i te huarahi kore tika. Ka taea e ngā tāngata whai NF1 te tuawhe o te tuawhe, e kiia ana ko te scoliosis, i te waewae raro kōpae rānei. Te mate pūngāwerewere kei runga i te io e hono ana i te kanohi ki te roro, e kiia ana ko te glioma ara huarahi. Ko tenei mate pūngāwerewere te nuinga o te wā ka puta mai i te tau 3. Ko te mate pūngāwerewere kaore e puta mai i te wā tamarikitanga, i roto i ngā taiohi rānei, ā, tata kore rawa i roto i ngā pakeke. Ngā mate ako. He mea noa ki ngā tamariki whai NF1 te whai raruraru ki te ako. Ko te nuinga o te wā he mate ako motuhake, pēnei i te raruraru ki te pānui, ki te pātai rānei. Ko te mate morearea/mate pānga nui (ADHD) me te whakaroa kōrero he mea noa hoki. Te rahi o te ulu nui atu i te toharite. Ko ngā tamariki whai NF1 te nuinga o te wā he nui atu te rahi o te ulu i te toharite, nā te nui ake o te nui o te roro. Te poto o te teitei. Ko ngā tamariki whai NF1 te nuinga o te wā he iti ake te teitei i te toharite. Tirohia tetahi kaimahi hauora mena kei tō tamaiti ngā tohu o te neurofibromatosis momo 1. Ko ngā mate pūngāwerewere te nuinga o te wā kāore i te mate pukupuku, ā, he puhoi te tipu, engari ka taea te whakahaere i ngā raruraru. Ki te whai tō tamaiti i te plexiform neurofibroma, he rongoā kei te wātea hei whakaora i taua mea.

Tirohia tetahi kaimahi hauora mena kei tō tamaiti ngā tohu o te neurofibromatosis momo 1. Ko ngā pūngāwerewere e kore nei e mate pukupuku te nuinga, ā, he puhoi te tipu, engari ka taea te whakahaere i ngā raruraru. Ki te pēhea te neurofibroma plexiform tō tamaiti, he rongoā kei te wātea hei whakaora i taua mea.

Ko te neurofibromatosis momo 1 te take i te huringa o te ira e tukuna ana e te matua, te puta mai ranei i te wa e hapu ana. Kei te karōme 17 te ira NF1. Ko tenei ira te kaihanga o te pūmua e kiia nei ko te neurofibromin, ā, ko tōna mahi ko te whakahaere i te tipu o ngā pūtau. Ki te huri te ira, ka ngaro te neurofibromin. Nā reira, ka tipu haere ngā pūtau, kāhore he whakahaere.

I roto i te mate pūngao rangatira-a-whakapapa, ko te huringa o te ira ko te ira rangatira. Kei tetahi o ngā ira kore-taane, e kiia nei ko ngā ira-a-tinana. Kotahi noa te huringa o te ira e hiahiatia ana kia pā te tangata ki tēnei momo āhuatanga. He 50% te tūponotanga o te tangata he mate pūngao rangatira-a-whakapapa tōna – hei tauira, te matua – kia whānau he tamaiti e pā ana, he ira huringa tōna, ā, he 50% te tūponotanga kia whānau he tamaiti kāore i pā.

Ko te take tino nui o te neurofibromatosis momo 1 (NF1) ko te hītori whānau. Mō te haurua o ngā tāngata he NF1 tō rātou, i tukuna mai te mate i te mātua. Ko ngā tāngata he NF1 tō rātou, ā, kāore ō rātou whānau e pā, pea he huringa hou ki te ira.

He tauira whakawhiwhi pūngao rangatira-a-whakapapa te NF1. Ko te tikanga tenei, he 50% te tūponotanga o tetahi tamaiti o te mātua e pā ana ki te mate kia whiwhi i te ira i hurihia.

Ko ngā raruraru o te neurofibromatosis momo 1 (NF1) e rerekē ana, ahakoa i roto i te whānau kotahi. Ko te nuinga, ka puta mai ngā raruraru ina pā ana ngā pūngāwerewere ki ngā kiko io, ki te pehi rānei i ngā whekau o roto. Ko ngā raruraru o te NF1 e whai ake nei: Ngā tohu neurological. Ko te raruraru ki te ako me te whakaaro ko ngā tohu neurological tino noa e hono ana ki te NF1. Ko ngā raruraru kaore e tino noa e whai ake nei: te mate huka me te kohinga o te wai nui i roto i te roro. Ngā āwangawanga mō te ahua. Ko ngā tohu whakarite o te NF1 e taea ana te whakauru i ngā tohu cafe au lait whānui, he maha ngā neurofibromas i te mata, he neurofibromas nui rānei. I ētahi tāngata, ka taea e tēnei te whakaeke i te manukanuka me te pouri, ahakoa kaore he kino hauora. Ngā tohu wheua. He tamariki ētahi he wheua kaore i hanga rite tonu. Ka taea e tēnei te whakaeke i te kōkopu o ngā waewae me ngā whati kaore e ora tonu. Ka taea e te NF1 te whakaeke i te kōkopu o te tuawhenua, e mohiotia ana ko te scoliosis, ka hiahiatia pea te tautoko, te pokanga rānei. E hono ana hoki te NF1 ki te iti o te nui o te mīnerara wheua, e whakapiki ana i te tūponotanga o ngā wheua ngoikore, e mohiotia ana ko te osteoporosis. Ngā huringa i te tirohanga. I etahi wa, ka whanake he pūngāwerewere e kiia nei ko te optic pathway glioma i runga i te io tirohanga. Ina puta mai tenei, ka taea e te tirohanga te pā. Te piki o ngā tohu i ngā wā o te huringa homonal. Ko ngā huringa homonal e hono ana ki te pakeketanga, ki te hapu rānei, ka taea te whakaeke i te piki o ngā neurofibromas. Ko te nuinga o ngā tāngata he NF1 kei a rātou ngā haputanga hauora, engari ka hiahiatia pea te tirotiro e te taote whānau e mohio ana ki te NF1. Ngā tohu cardiovascular. He nui ake te tūponotanga o ngā tāngata he NF1 ki te toto teitei, ā, ka taea te whanake i ngā āhuatanga o te oko toto. Te raruraru o te manawa. He iti rawa, ka taea e ngā plexiform neurofibromas te pehi i te ara hau. Te mate pukupuku. Ka whanake etahi tangata he NF1 i nga mate pukupuku. Ko te nuinga ka puta mai i nga neurofibromas i raro i te kiri, i nga plexiform neurofibromas ranei. He nui ake ano te tupono o nga tangata he NF1 ki etahi atu momo mate pukupuku. Ko etahi o aua mate pukupuku ko te mate pukupuku u, te mate pukupuku toto, te mate pukupuku colorectal, nga mate pukupuku roro, me etahi momo mate pukupuku ngawari. Me timata te tirotiro mo te mate pukupuku u i mua ake, i te tau 30, mo nga wahine he NF1, ki te whakarite ki te taupori whānui. Te pūngāwerewere whekau adrenal pai, e mohiotia ana ko te pheochromocytoma. Ko tenei pūngāwerewere kore-mate pukupuku e whakaputa ana i ngā homoni e whakapiki ana i tō pehanga toto. Ko te pokanga te tikanga e hiahiatia ana kia tangohia.

Kaore he uauatanga

Hei whakatau i te neurofibromatosis momo 1 (NF1), ka tīmata te kaimahi hauora mā te arotake i tō hītori hauora whaiaro me te whānau, me te whakamātau tinana.

Ka tirohia te kiri o tō tamaiti mō ngā tohu kīhu kōwhiu, ka taea te awhina i te whakatau i te NF1.

Mēnā he whakamātau atu e hiahiatia ana hei whakatau i te NF1, pea ka hiahia tō tamaiti ki:

• Whakamātau kanohi. Ka taea e te whakamātau kanohi te whakaatu i ngā nodules Lisch, ngā cataracts me te ngaro o te tirohanga.
• Ngā whakamātau whakaahua. Ka taea e ngā X-rays, ngā CT scans, ngā MRI rānei te awhina i te kimi i ngā huringa wheua, ngā mate pukupuku i te roro, i te tuaiwi rānei, me ngā mate pukupuku iti rawa. Ka taea te whakamahi i te MRI hei whakatau i ngā optic gliomas.
• Ngā whakamātau irahiko. Ka taea e te whakamātau irahiko mō te NF1 te tautoko i te whakatau. Ka taea hoki te mahi i ngā whakamātau irahiko i te wa hapu i mua i te whānau mai o te pēpi. Pātai atu ki tētahi mema o tō rōpū hauora mō te tohutohu irahiko.

Mō te whakatau o te NF1, me noho mai te rua nei o ngā tohu o te mate. He tūmanako ka aroturukihia te tamaiti he kotahi noa te tohu me te kore hītori whānau o te NF1 mō ētahi atu tohu. Ka mahia te whakatau o te NF1 i te nuinga o te wā i te tau 4.

Kāore he rongoā mō te neurofibromatosis momo 1 (NF1), engari ka taea te whakahaere i ngā tohu. Ko te tikanga, ko te tere ake o te tiaki a te tohunga kua whakangungua ki te whakaora i te NF1, ko te pai ake o te hua.

Ki te pēpi a tō tamaiti he NF1, he maha ngā tirotiro tau e tūtohutia ana kia:

• Tirohia te kiri o tō tamaiti mō ngā neurofibromas hou, kāore rānei he huringa i ngā mea kei reira.
• Tirohia te tipu me te whanaketanga o tō tamaiti. Kei roto i ēnei te ine i te teitei, te taumaha me te whānuitanga o te ūtū kia rite ki ngā tūtohu tipu mō ngā tamariki he NF1.
• Rapua ngā tohu o te pakeketanga wawe.
• Rapua ngā huringa wheua.
• Tirohia te whanaketanga ako o tō tamaiti me te whakahaere i te kura.
• Kia whakamātauhia rātou kanohi.

Whakapa atu ki tō rōpū hauora inaianei anō ki te kite koe i ētahi huringa i ngā tohu i waenganui i ngā haerenga. Ka taea te whakaora pai i ngā raruraru maha o te NF1 ki te tīmata wawe te rongoā.

Ko te Selumetinib (Koselugo) he rongoā kua whakaaetia e te U.S. Food and Drug Administration mō te plexiform neurofibroma i ngā tamariki. Ka taea e te rongoā te whakaiti i te rahi o te mate pukupuku. Kei te mahi ngā whakamātautau hauora mō ngā rongoā rite ki ēnei mō ngā tamariki me ngā pakeke.

Ka whakahaerea ngā mate pukupuku e pā ana ki te NF1 me ngā rongoā mate pukupuku noa, pēnei i te pokanga, te chemotherapy me te rongoā radiation. Ko te taumata me te whakaora wawe ko ngā take nui rawa atu mō te hua pai.

Ko te tiaki i te tamaiti he mate pēnei i te neurofibromatosis momo 1 (NF1) ka uaua. Engari he maha ngā tamariki he NF1 e tipu ana kia ora hauora me ngā raruraru torutoru, ki te kore rā.

Hei āwhina i a koe ki te whakatau:

• Rapua he tohunga hauora e whakawhirinaki ana koe ki a ia, ā, ka taea te whakahaere i te tiaki a tō tamaiti me ētahi atu tohunga. Kei te Children's Tumor Foundation he taputapu ipurangi hei āwhina i a koe ki te rapu i te tohunga i tō rohe.
• Hono atu ki tētahi rōpū tautoko mō ngā mātua e tiaki ana i ngā tamariki he NF1, ADHD, ngā hiahia motuhake, kāore rānei he mate ora tonu.
• Hokona te āwhina mō ngā hiahia o ia rā, pēnei i te tunu kai, te horoi, te tiaki rānei i ō tamariki ke, kāore rānei kia tango i te okioki e hiahiatia ana.
• Rapua te tautoko mātauranga mō ngā tamariki he mate ako.

Kaore he uauatanga