Māmā rāua ko Pāpā, i a kōrua e mātakitaki ana i tā kōrua tamaiti e tipu haere ana, tera pea ka whakaaro kōrua he poto ake ia i ō rāua hoa. Tērā pea ka kite kōrua i a rātou e pakeke haere ana, kāore rātou e eke ki te teitei i whakaarohia e kōrua. He mea noa te āwangawanga, te māharahara rānei ina puta ake ēnei whakaaro. I tēnei rā, e hiahia ana mātou ki te kōrero mō tētahi āhuatanga pea te take o tēnei—he mea kāore i te tino kōrerohia.
Na, he aha tonu te hypochondroplasia?
Ki te whakarapopoto, ko te hypochondroplasia he āhuatanga e pā ana ki te whanaketanga o tō pūnaha angaiwi. E kīia ana ēnei e ngā tākuta he skeletal dysplasias . Ina koa, ko tō angaiwi tēnei āhuatanga. E mōhio ana pea koe, ko te angaiwi te kiko honohono pakari, ngāwari e tiaki ana i ō wheua, e ārai ana hoki i a rātou kia kaua e mirimiri tetahi ki tetahi i ngā hononga—pērā i te angaiwi i roto i ō taringa, i tō ihu rānei. I roto i te hypochondroplasia, kāore te angaiwi i roto i ō wheua roa (pērā i ērā i roto i ō ringaringa me ō waewae) e huri tika hei wheua—he tukanga e kiia nei ko te ossification . Nā te mea ka whakararuhia tēnei tukanga tipu, ka poto ake ngā peka, koia te take i whakarōpūtia ai tēnei hei momo 'short-leg dwarfism'.
He Pēhea te Noa o Tēnei Āhuatanga?
He uaua ki te whakatau i te tokomaha tika o te hunga e noho ana me te hypochondroplasia. Heoi, e kī ana ngā kairangahau he rite tonu te auau o tēnei mate ki te achondroplasia , he mate e pā ana ki tēnei mate. E ai ki ngā whakatau tata, tata ki te 1 i roto i te 15,000 ki te 40,000 pēpi hou puta noa i te ao ka pāngia. Ahakoa ehara i te mea tino noa, he mate tēnei e kitea ana e ngā tohunga hauora i Nirogi Lanka.
He aha ngā tohu?
He maha ngā tohu ā-tinana hei āwhina i te tautuhi i te hypochondroplasia, ahakoa he rerekē rawa ēnei i ia tangata:
- Te roa poto: He puhoi ake te tere o te tipu i tō ō rātou hoa o taua tau anō.
- Upoko nui ake: Tērā pea he āhua nui ake te upoko i te toenga o te tinana.
- Ngā waewae poto: Ina koa, tera pea te āhua poto o ngā ringa o runga me ngā huha.
- Ringa whānui me ngā waewae: Tērā pea he whānui ake ngā nikau me ngā waewae i te toharite.
- Te toronga iti o te tuke: Tērā pea he uaua ki te whakatikatika katoa i ō tuke.
- Waewae piko: Ka piko pea ngā waewae ki waho i ngā turi.
- Lumbar lordosis: He piko whakaroto nui o te tuaiwi o raro.
I te nuinga o te wā, ka kitea nuitia ngā rerekētanga o te teitei i te tipu haere o te tamaiti, i waenganui i te rua tau me te tau kura. Ko ngā tāne pakeke me te hypochondroplasia ka eke ki te teitei o te 138 ki te 165 cm (54-65 inihi), ko ngā wahine ia ka eke ki te 128 ki te 151 cm (50-59 inihi).
I roto i tō oranga katoa, tera pea ka pāngia koe e te mamae i ētahi wā i roto i ō hononga ringa me ō waewae, inā koa i muri i te whakakori tinana.
Ahakoa he onge, iti iho i te 10% o te hunga whai hypochondroplasia ka pāngia pea e ngā wero ako ngawari, e ngā uauatanga hinengaro rānei. Heoi, he mea nui kia mahara ko te nuinga o ngā wā, kāore tēnei āhuatanga e pā ki te hinengaro mohio .
Āhea ēnei tohu ka puta?
He maha ngā wā, kāore e kitea tonutia te poto o te tinana i te whānautanga mai.Ka kitea whānuitia tēnei ina tutuki i tāu tamaiti ngā taumata whanaketanga, ina kore rānei e pā ki te 'tere tipu' noa i ōna tau taiohi, ki te whakaritea ki ōna hoa.
He aha te Take?
Ko te hypochondroplasia te take matua o te whakarerekētanga ira , ko te nuinga o te wā ka puta i roto i te ira FGFR3 . Ka whakaratohia e tēnei ira ngā tohutohu mō te hanga i tētahi pūmua e tika ana mō te tipu me te pupuri i te wheua. Ina whakarerekētia te ira FGFR3, ka kaha rawa te mahi a te pūmua, ka whakararuraru i te huringa noa o te kiriuhi hei wheua. He mate autosomal dominant tēnei, arā, ki te mau te ira i tētahi o ngā mātua, e 50% te tūponotanga ka tukuna ki tā rātou tamaiti. Heoi, ko te nuinga o ngā take ka puta matapōkeretia (de novo) , arā, ka taea te tupu ahakoa kāore he tangata kē atu i roto i tō whānau e pāngia ana e te mate.
Ko wai ka pāngia?
Ka pāngia tetahi tamaiti e te hypochondroplasia. Ehara i te mea nā tetahi mea i mahia, i mahia rānei e te whaea i te wā e hapu ana. He āhuatanga ira kāore e taea te matapae.
Me pēhea te tātaritanga?
I Nirogi Lanka, ko te tikanga ka tātaritatia tēnei mate e ngā tākuta i muri i te whānautanga, nā te mea kāore pea i te tino mārama ngā kitenga o te ultrasound i te wā e hapu ana. Mena he hītori whānau e mōhiotia ana mō te whakarerekētanga ira motuhake, ka taea pea te tātaritanga i te wā e hapu ana mā te CVS (chorionic villus sampling) te amniocentesis rānei.
Ngā whakamātautau tātaritanga noa:
- Ngā hihi-X: Hei tirotiro i te tipu me te hanganga o tō wheua.
- Whakamātautau ira: Hei tautuhi i te whakarerekētanga motuhake i roto i te ira FGFR3.
- Matawai MRI, CT rānei: Hei tirotiro mēnā he piko te tuaiwi, he pēhanga rānei o te io.
He aha ngā kōwhiringa maimoatanga?
Ko te whāinga o ngā maimoatanga mō te hypochondroplasia he whakahaere i ngā tohu me ngā raruraru motuhake ka puta mai i te tipu koiwi rerekē. He ahurei ia haerenga, ā, ka whakaritea ngā mahere tiaki kia rite ki ō hiahia, ki ngā hiahia rānei o tāu tamaiti. Anei te huarahi e whakahaerehia ai tēnei mate:
- Pokanga tuaiwi: Mēnā ka pēhia ngā io o te tuara o raro, ka hua ake he āhuatanga pēnei i te stenosis o te lumbar , ka tūtohutia pea ngā pokanga pēnei i te laminectomy , te decompression rānei.
- Te whakaora tinana: He mea nui tēnei hei whakapai ake i tō nekehanga, tō ngāwari, me te whānuitanga o te nekehanga.
- Maimoatanga homoni tipu: Tērā pea ka whakaarohia tēnei mō ētahi tamariki hei āwhina i te tipu hauora rārangi.
- Te whakahaere mamae hononga: Kei te wātea ngā rongoā me ngā maimoatanga kua tohua hei āwhina i a koe ki te whakahaere i te mamae o ō hononga.
He maha ngā whānau e pāngia ana e te hypochondroplasia e whiwhi ana i te whakamarie me te ārahi nui i roto i te whakauru atu ki ngā rōpū tautoko . Mā te hono atu ki ētahi atu e rite ana ngā wheako ka taea te whakamana. He rauemi pai ēnei hapori mō te whakatere i ngā wero mahi - mai i ngā tohutohu mahi me ngā tika hauātanga ki ngā rautaki mātua me te tautoko mātauranga. Ka akiaki a Nirogi Lanka i a koe ki te toro atu ki ēnei whatunga mō te kaha tahi.
He aha taku e tumanako ai mēnā he hypochondroplasia taku tamaiti?
He mate ira te hypochondroplasia mō te wā roa . Ahakoa kāore anō kia kitea he rongoā i tēnei wā, he mea nui kia mōhio koe kāore e pā ki te roanga o te oranga , ā, he oranga whai hua, he oranga whai hua hoki tō te tangata.
Tērā pea ka kite koe i ngā tohu tino kitea i te taenga mai o tāu tamaiti ki tōna taiohitanga. Nā te mea kāore rātou e pāngia e te 'whakatipu tere' o te taiohi, tera pea ka poto ake rātou i ō rātou hoa.
He mea noa te mamae o ngā turi, o ngā tuke, o ngā pona rānei o ngā tamariki i muri i te mahi ā-tinana. I a rātou e pakeke haere ana, ka pāngia tonutia rātou e te mamae, te pakari rānei o ngā hononga.
I Nirogi Lanka, ka mahi tahi mātou me koe ki te aroturuki i te tipu o tāu tamaiti, me te whakarato mahere whakahaere whaiaro, matatau hoki mō ngā tohumate ka puta.
Ka taea e au te ārai i te whakawhanaketanga o te hypochondroplasia i taku tamaiti?
Nā te mea ka puta te hypochondroplasia nā ngā huringa ira tūpono, kāore he huarahi hei ārai i tēnei mēnā kāore te tokorua e whiriwhiri ki te whai i ngā whakamātautau ira i mua i te whakatōnga mā roto i ngā tikanga hauora whakaputa uri motuhake.
Ahakoa kāore e whakaaetia ngā āhuatanga taiao pēnei i te momi hikareti i mua i te whānautanga, te pānga rānei ki ngā matū, ehara i te mea koinei te tino take o tēnei mate. Mena kei te whakaaro koe ki te hapu, ka tūtohu mātou kia kōrerohia ngā āwangawanga ira ki tētahi tohunga ka taea te whakarato i ngā mōhiohio mārama, tika hoki ki a koe.
Āhea ahau me toro atu ki te tākuta?
Mena kua tāpaetia te mate o tāu tamaiti ki te hypochondroplasia, whakaritea he haerenga ki te tākuta mēnā ka puta he tohu e whakararuraru ana i āna mahi o ia rā, inā koa mēnā ka rongo ia i te mamae nui, te mamae tonu rānei o ōna waewae.
Hei tāpiri atu, ahakoa kāore anō kia tātaritatia tō tamaiti, ki te ngaro i a rātou ngā tohu whanaketanga matua - pērā i te korenga o te 'whakatipu tere' - tēnā whakapā atu ki tō tākuta tamariki. Ki te pāngia koe e tētahi āhuatanga ohorere hauora, waea atu ki te 911, toro atu rānei ki tō tari ohorere tata tonu.
Ngā pātai hei pātai atu ki tō tākuta:
Pātai atu ki tō kaiwhakarato hauora mō ēnei mea e whai ake nei:
- He aha te mōrearea o te hokinga mai o te mate i ngā hāputanga o muri mai?
- Me whiwhi taku tamaiti i te maimoatanga hauora, i te wawaotanga rānei i taua wā tonu?
- He mea pea e hiahiatia ana te pokanga mō taku tamaiti?
- He aha ngā pānga taha ka pā mai pea i ngā maimoatanga kua tohua?
- Ka taea e koe te tūtohu i tētahi rōpū tautoko rongonui mō tō mātou whānau?
He aha te rerekētanga i waenga i te hypochondroplasia me te achondroplasia?
He mate ira te hypochondroplasia me te achondroplasia e ahu mai ana i ngā whakarerekētanga ira i roto i te ira FGFR3 , e pā ana ki te tipu o ngā wheua. Heoi, e kiia ana ko te hypochondroplasia he momo ngawari ake o te mate, ā, he iti ake te kino o ngā tohu.
Ko ngā tamariki e pāngia ana e te hypochondroplasia, kāore e tino pāngia e ngā ngoikoretanga nui i roto i ā rātou mahi o ia rā. He maha ngā wā, ko te āhuatanga matua ko te poto ake o te tinana i ō rātou hoa. Ahakoa he iti noa te mōrearea o ngā wero pāpori, te tukino rānei i ngā tau kura, he tino whai hua te whakarite i te tautoko kaha a te whānau—me te kōrero ki tētahi tohunga hauora hinengaro i ētahi wā. He mahi noa, he mahi whakatenatena hoki te hono atu ki ētahi atu whānau mā roto i ngā rōpū tautoko i Nirogi Lanka hei whakawhitiwhiti wheako me te hanga whakapono.
Mena kei te whakaaro koe ki te whānau, ā, e hiahia ana koe ki te mārama ki ngā tūponotanga o te tuku iho i tētahi mate ira, whakaritea he wā kōrero ki tō tākuta hei matapaki i ngā whakamātautau ira.
Nā, he aha ngā kaupapa matua o tēnei aratohu?
Ahakoa he mate ira te hypochondroplasia e pā ana ki te teitei o te tamaiti, ehara i te mate e whakawhāiti ana i te ora. Ka taea e tāu tamaiti te ora i tētahi oranga tino pai, noa hoki.
- He maha ngā wā ka puta mai i tētahi whakarerekētanga ira tūpono: Kia mahara ehara tēnei i te he nāu hei mātua; kāore he mahi nāu i puta ai tēnei.
- He ngawari noa iho ngā tohu: Ko te āhuatanga matua ko te poto. Kāore te whanaketanga hinengaro e pāngia.
- Ka taea te whakahaere i ngā tohumate: Mā te aratohu hauora me te maimoatanga tika, ka taea e tāu tamaiti te ora i tētahi oranga whakamarie.
- He mea nui te aroha me te tautoko: Mā te whakatenatena i tāu tamaiti me te hono atu ki ngā rōpū tautoko ka tino whakapiki ake i tōna whakapono ki a ia anō.
- Kei konei tō tīma hauora hei tautoko i a koe: Mēnā he pātai, he āwangawanga rānei āu, kaua e mangere ki te whakapā atu ki tō tākuta whānau mō ngā tohutohu whaiaro.
👩🏽⚕️ Ngā Pātai Auau (FAQs)
💬 He momo whakarōpūtanga iti te hypochondroplasia?
Ae, he mate ira whānau mai tēnei. Ka puta mai i te whakarerekētanga ira i roto i te ira FGFR3, e whakahaere ana i te hurihanga o te kiriuhi hei wheua. Ka puhoi ake te tipu o te wheua, ka poto te roa o ngā waewae, ahakoa he roa noa te tinana.
💬 He aha te rerekētanga mai i te akondroplasia?
He momo tino noa, he kino hoki te Achondroplasia o te dwarfism. E kiia ana ko te hypochondroplasia he momo ngawari ake. Ko ngā tamariki e pāngia ana e te hypochondroplasia, kāore e whakaatu i ngā āhuatanga kanohi motuhake e pā ana ki ētahi atu mate, ā, ka taea e rātou te eke ki te teitei i waenga i te 4 me te 5 putu.
💬 Ka taea e te rongoā te āwhina i taku tamaiti kia roa ake?
Nā te mea he ira tuku iho, kāore he rongoā katoa. Heoi, ki te kitea wawetia te mate i te tamarikitanga, ka āwhina pea te Growth Hormone Therapy ki te whakapai ake i te teitei whānui. Ko ngā wero tino noa ko te mamae o ngā hononga me ngā raruraru tuaiwi, e whakahaeretia ana i te nuinga o te wā mā te whakaora tinana (physiotherapy).
Nirogi Lanka : Te korenga o te toto i roto i te tinana, te roa o te tamaiti, te poto o te tinana, te āhua ira, te tipu o te wheua, te ira FGFR3, te kiriuhi wheua.
