I ētahi wā, ka āwangawanga tātou ki ngā mea iti e pā ana ki te whanaketanga o ā tātou tamariki, kāore? He rerekē te whanaketanga o ētahi tamariki, kāore rānei ō rātou waewae e whanake pērā i tā tātou e whakaaro ai. I tēnei rā ka kōrero tātou mō tētahi mate ira tino onge. Ko te ingoa o tēnei ko te Robinow Syndrome, ko te "Robinow Syndrome" rānei i te reo Pākehā. Kaua e mataku ina rongo koe i tēnei, nā te mea ehara tēnei i te mea e pā ana ki te tini o te tangata. Heoi, he mea nui kia mōhio te katoa ki tēnei.
Know your body mass index (BMI) and weight classification
He aha te Mate Robinow?
He whakarāpopototanga noa iho, ko te Robinow Syndrome he mate ira onge e pā ana ki te whanaketanga o te angaanga o te tamaiti me ētahi atu wāhanga o te tinana. Hei tauira, ko ētahi o ngā ringa, ngā waewae, me ngā maihao o ngā tamariki he poto ake i te mea noa. Tērā pea he tuaiwi piko (e kiia ana ko te scoliosis), he iti te rara o te uma, he āhua o te kanohi, he rerekētanga o te ira tangata, ā, i ētahi wā ka roa te whanaketanga.
He maha atu anō ngā ingoa e whakamahia ana e ngā tākuta mō tēnei mate. He mea pai hoki kia mōhiotia rātou:
- 'Te dysostosis acral me ngā hapa o te kanohi me te ira tangata' (arā, ngā hapa o te kanohi me te ira tangata me ngā raruraru o ngā wheua o ngā peka).
- 'Te mate kanohi o te pēpi' (e kiia ana pērā nā te mea he rite te mata o te pēpi ki te mata o te tamaiti i roto i te kōpū).
- Te whakapoto o ngā wāhanga waenga o ngā peka me ngā ira tangata iti - te mate o te iti o te rahi o ngā ira tangata (me te poto o ngā wāhanga o waenganui o ngā peka me ngā ira tangata iti).
- 'Te whakarōpūtanga o ngā Robinnow'.
- 'Te mate Robinnow-Silverman' te 'mate Robinnow-Silverman-Smith' rānei.
Ahakoa he maha ngā ingoa mō ēnei, he rite tonu te āhua hauora e pā ana ki ēnei katoa.
E rua ngā momo o te Mate Robinow?
Āe, e rua ngā momo matua o te mate Robinow. Ko ēnei:
1. Momo ira tuku iho ā-iwi: Ahakoa he ahua uaua tēnei, engari ki te kī māmā noa, kia puta ai tēnei momo ira, me riro i te tamaiti te rerekētanga ira e tika ana mai i ngā mātua e rua.
2. Momo autosomal dominant: I tēnei momo, ka puta te mate ahakoa i tukuna iho te huringa ira e tika ana mai i tētahi mātua, i puta noa rānei he huringa ira hou.
He rerekē ēnei momo e rua tetahi i tetahi:
- E ai ki te whakarerekētanga ira e puta ai te mate.
- Kei te āhua o te tukunga iho o tēnei mate ki te tangata .
- E ai ki ngā tohu me ngā āhuatanga kua whakaaturia.
- I runga i te kaha o te mate.
He pēhea te onge o te mate Robinow?
He tino onge tēnei mate . E ai ki ngā tuhinga hauora, kua pūrongohia te momo autosomal recessive i roto i te iti iho i te 200 ngā take puta noa i te ao. Kua pūrongohia hoki te momo autosomal dominant i roto i te tata ki te 50 whānau. Nō reira, ka taea e koe te whakaaro he aha te onge o tēnei.
He aha i puta ai te mate Robinow Syndrome?
Ko te take matua mō tēnei he whakarerekētanga ira . Ko ngā mea katoa o roto i tō tātou tinana e whakahaeretia ana e ngā ira. Nō reira, ki te mea he huringa, he hapa rānei kei roto i ēnei ira, ka puta ēnei āhuatanga.
- Ko te mate Robin autosomal recessive ka puta mai i te whakarerekētanga o tētahi ira e kiia nei ko te ROR2. E whakapono ana ngā kaipūtaiao ko te pūmua e whakaputaina ana e tēnei ira ROR2 ka āwhina i te whanaketanga o ō tātou angaanga, te ngākau, me ngā ira tāne. Nō reira, ina he raruraru ki tēnei ira, kāore te pūmua e hanga tika.
- Ko te mate Robino autosomal dominant ka puta mai i ngā whakarerekētanga ira i roto i ētahi ira (FZD2, WNT5A, DVL1, DVL3). Ka whai wāhi hoki ēnei ira ki te whakaputa i ngā pūmua e pā ana ki te whanaketanga o te kukune i te tīmatanga. Heoi, kāore anō kia tino māramahia ā rātou mahi.
Engari ko te mea rerekē, i ētahi wā ka puta tēnei Mate Robinow ahakoa kāore he huringa ira i kitea. Kāore anō kia tino mōhiotia e ngā kaipūtaiao he aha i puta ai tēnei.
He pēhea te tukunga iho o te mate Robinow?
Kua kōrero kē tātou mō ngā huarahi matua e rua hei tuku iho i tēnei. Me titiro tātou ki tēnā me ētahi atu taipitopito.
- Hei mate whakaheke: Ka puta tēnei ina riro i te tamaiti ngā tārua e rua o te ira rerekē – mai i ngā mātua e rua. Ko te mea nui i konei ko ngā mātua e rua pea he kawe i te ira, engari kāore pea he tohu o te mate . Me te mea kei roto i ō rāua tinana te ira hei mea ngaro. Nō reira, ki te whānau he tamaiti mā ngā kawe e rua, e 25% te tūponotanga ka pāngia te tamaiti e te mate Robin autosomal recessive. Ko te tikanga o tēnei, ehara i te mea ka whānau mai ngā tamariki katoa me tēnei mate, engari he tūponotanga kei reira.
- Mate matua: Koinei te wā ka riro mai i te tamaiti te ira rerekē mai i te mātua kotahi anake. I ētahi wā rānei, ka puta noa mai he huringa ira hou (whakarerekētanga ā-pūtake), arā, kāore he take e kitea ana, i te wā e whanake ana te tamaiti i roto i te kōpū. He uaua ki te kī tika he aha i puta ai ēnei huringa ā-pūtake.
Nō reira, i ētahi wā ka taea e te tangata te kawe i tēnei whakarerekētanga ira me te kore e mōhio. Koia te take ka taea e te tamaiti te pāngia e tēnei mate ahakoa kāore he tangata o te whānau e pāngia ana e tēnei mate.
He aha ngā tohu o te tamaiti e pāngia ana e te mate Robinow?
Ka rerekē rawa ngā tohu o tēnei i ia tangata, i ia tangata. Kei te momo mate me tōna kaha. E ai ki tā mātou i kōrero ai i mua ake nei, ko te momo autosomal recessive ka whakaatu pea i ētahi atu tohu.
Ngā āhuatanga rerekē e kitea ana i te mata:
He āhua kanohi ō ngā tamariki e pāngia ana e tēnei mate. I ētahi wā ka karangatia rātou ko ngā "fetal facies," nā te mea he rite ki ngā āhua kanohi o te tamaiti kei roto i te kōpū. Kei roto i ēnei āhuatanga:
- He rae whānui, he rae pūwero rānei.
- Tērā pea he rerekē te tūnga o ngā taringa, hei tauira, he iti rawa te piko ki runga i te māhunga, he paku piko rānei.
- He upoko nui atu i te mea noa ((Macrocephaly)) .
- He roa, he hōhonu te awaawa hōhonu (philtrum) i waenganui o te ngutu o runga.
- Ngā kanohi e pupū ake ana, e whānui ana te tawhiti.
- He ihu poto, he ihu piko.
- He kauae iti, he kauae rānei.
- He waha tapatoru te āhua.
- He piriti ihu whānui, totohu rānei (te tihi o te ihu).
Ngā āhuatanga i kitea i roto i te angaanga:
Koinei ngā huringa matua e kitea ana i roto i ngā wheua:
- He scoliosis (te ngoikore o te hope) .
- Te whakaroa o te tipu me te poto o te tinana.
- Ngā raruraru niho. Hei tauira, he niho piri, he nui rawa te tupu o ngā kapia, he waha ngatata rānei.
- Tērā pea ka piri ngā rara tetahi ki tetahi, kāore rānei ētahi rara i te kitea.
- Te whakapoto i ngā wheua o ngā ringa me ngā waewae.
- Te whakapoto i ngā maihao (ngā ringaringa me ngā waewae) ((Brachydactyly)) .
Ētahi atu tohu:
Hei tāpiri atu ki tēnei, ka kitea anō hoki ētahi atu āhuatanga:
- Ngā whakaroa whanaketanga . Engari ko te mea nui ki te kī i konei, he maha ngā tamariki e pāngia ana e te Mate Robinow kāore e pāngia e ngā hauātanga hinengaro i muri mai i te oranga. Ko te tikanga o tēnei, he mea noa pea ō rātou pūkenga ako.
- Ngā mate whatukuhu, ngā mate ngākau rānei.
- Kāore i tino whanake ngā ira tāne. I ētahi wā, ka uaua te tautuhi i te ira tāne, wahine rānei te tamaiti, ahakoa kei te tū te ira tāne.
He aha te mate Osteosclerotic Robinow?
Mō tētahi hunga tokoiti e pāngia ana e te mate Robinow autosomal dominant (nā te whakarerekētanga ira i roto i te ira DVL1), tera pea he matotoru ake, he mārō ake rānei ō rātou wheua i te mea noa . Ka tapaina tēnei āhuatanga e ngā tākuta ko te Osteosclerotic Robinow Syndrome.
Me pēhea te tautuhi i te mate Robinow Syndrome?
Ko te tikanga ka kitea tēnei mate mā te tirotiro i ngā āhuatanga tinana o te tamaiti. Ina tirotirohia te tamaiti e te tākuta, ka tirohia e rātou ngā tohu kua whakahuatia ake nei.
"Āe, e te tākuta, he rerekē te āhua o te mata o taku pēpi i ērā atu tamariki... He poto ake te āhua o ōna waewae me ōna waewae..." Ko ētahi mātua te tuatahi ka whakaaro ake ki ngā mea pēnei.
Heoi, hei whakaū i te mate, me whai whakamātautau ira motuhake ("(Testing gene ira ngota)) hei tirotiro mēnā he huringa ira . Ka mahia tēnei i roto i te taiwhanga mā te whakamātautau:
- He tauira toto
- He tauira huware
- He ūkui paparinga
- I ētahi wā he wāhanga iti o te kiri
Mena kei te pāngia tētahi o tō whānau e te mate Robinow...
I roto i tēnei āhuatanga, ka tūtohu pea ngā tākuta kia whakamātauria te pēpi mō tēnei āhuatanga i te wā e hapū ana.
- Ka taea te whakahaere i tētahi whakamātautau e kīia nei ko te "Chorionic villus sampling" mā te tango i tētahi tauira iti mai i te whenua kōiwi.
- Tērā atu rānei, ka taea te whakahaere i tētahi whakamātautau ira ("(Genetic amniocentesis)), arā, ko te tango tauira o te wai amniotic e karapoti ana i te pēpi.
Nā te mea he uaua rawa ēnei whakamātautau, ka mahia anake i runga i te tohutohu a te taote.
Me pēhea te rongoā i te tamaiti e pangia ana e te Robinow Syndrome?
He rerekē te maimoatanga mō tēnei i ia tangata, i ia tangata . Kei runga i ngā tohumate o te tamaiti. He maha ngā wā ka rongoatia te tamaiti e tētahi rōpū tohunga mai i ngā momo mara rerekē. Kei roto pea i tēnei rōpū:
- Tākuta ngakau – mēnā he raruraru ngakau tōu.
- Tākuta niho, tākuta niho whakahāngai, tākuta pokanga waha rānei – mō ngā raruraru niho me te kauae.
- Tohunga Endocrinologist – Mō ngā raruraru homoni e pā ana ki te whanaketanga o te ira tangata.
- Tākuta tamariki – Tirohia te hauora whānui o te tamaiti.
- Kaiwhakaora tinana – hei whakapai ake i te nekehanga me te mahi a te tinana.
- Taote pokanga wheua – mō ngā raruraru o ngā wheua me ngā hononga.
Hei maimoatanga, ka taea te mahi i ngā mahi e whai ake nei:
- Tāpirihia he takai motuhake, he mea whakarewa rānei hei tautoko i ngā wheua e pāngia ana.
- Whakamahia ngā taputapu niho motuhake (ngā whītiki me ētahi atu taputapu waha) hei whakatika i ngā raruraru niho.
- Hoatu he rongoā homoni hei whakatairanga i te tipu, i te whanaketanga rānei o ngā ira tāne.
- Mahia ngā mahi whakakori tinana motuhake hei whakapakari i te tinana, hei whakapai ake hoki i te mahi a te tinana.
- He pokanga hei whakatika i ngā āhuatanga hē o te angaanga, o ngā ira tangata rānei.
Haunga ēnei mea katoa, ka tohutohu anō ngā tākuta i te hunga whai mate Robinow Syndrome me ō rātou whānau kia rapu tohutohu ira . Mā tēnei ka āwhina i a rātou kia mārama ake ki te āhua, me pēhea te tuku iho, me ngā mea hei tirotiro mā rātou ina whānau tamariki ā muri ake nei.
Ka taea te ārai i te mate Robinow Syndrome?
Ina hoki, ki te kore ngā tāne me ngā wāhine e whai whakamātautau ira i mua i te whakatōnga , kāore he huarahi hei ārai i te whakarerekētanga ira e puta ai te Mate Robinow. Mena kei a koe, kei tētahi rānei o tō whānau tēnei mate, ko te mea pai ko te kōrero ki tētahi tākuta, ki tētahi kaitohutohu ira rānei. Ka taea e rātou te tohutohu i a koe mō te tūponotanga o te tuku i te mate ki ngā whakatipuranga o muri mai.
He aha te heke mai mō te tangata e pāngia ana e te Mate Robinow?
He rerekē te matapae mō te tangata e pāngia ana e tēnei mate. Kei runga i ngā tohu me tōna kaha. Ka taea e ngā raruraru onge o te ngākau me te whatukuhu te whakapoto i te roanga o te oranga. Heoi, he maha ngā tāngata e ora noa ana me te tiaki hauora me te tautoko pai.
Mena kei te pāngia taku tamaiti e te mate Robinow Syndrome, he aha atu ngā mea me pātai atu e au ki te tākuta?
Mena kua kitea tō tamaiti kei te pāngia e tēnei mate, ka taea e koe te pātai atu ki ngā tākuta i ēnei pātai. He tino āwhina ēnei:
- "E te tākuta, he aha te momo Robinow Syndrome kei taku tamaiti? " (Arā, he autosomal recessive, he dominant rānei).
- " Me whakaaro rānei tātou ki te pokanga hei whakatika i ngā āhuatanga rerekē o ngā wheua, o ngā ira tangata rānei? "
- "Ka whakaroa te whanaketanga o taku tamaiti?"
- "He mate manawa, he mate whatukuhu rānei tōu?"
- " He aha te momo tohunga me toro atu mātou? Kia pēhea te auau o tā mātou toro atu ki a rātou?"
- " He aha ngā tohu e tika ana kia tino āwangawanga ahau? Me whakapā atu ahau ki a koe mēnā ka kite ahau i tētahi mea pēnei?"
- " Ka whakapotohia rānei e tēnei āhuatanga te roanga o te oranga o taku tamaiti? "
- "He rōpū tautoko kei reira hei āwhina i a tātou kia ora i roto i tēnei āhuatanga?"
- "E taunaki ana koe i te tohutohu ira ?"
- "He whakaaro pai te whakahaere i ngā whakamātautau ira mō te toenga o tō tātou whānau?"
Kia maumahara ki ēnei pātai. Mā te pātai i ēnei pātai ka āwhina i a koe ki te whiwhi i te maimoatanga me te tautoko pai rawa atu māu me tāu tamaiti.
Hei whakamutunga, ngā mea hei maumahara (Karere hei tango ki te kāinga)
He tino onge te mate ira o te Robinow Syndrome. Ka taea e ia te whakaputa i ngā rerekētanga o te wheua, ngā āhuatanga kanohi motuhake, ngā raruraru ira tangata, me ētahi atu raruraru. Kaua e manukanuka , ehara tēnei i te mea e pā ana ki te nuinga o te tangata.
Heoi, ki te whakaaro koe kei tō tamaiti tētahi o ēnei tohu, me toro atu ki tētahi tākuta whai tohu tonu . Ka taea e ngā tohunga te whakatika i ētahi o ngā āhuatanga rerekē o te angaanga me ngā ira tangata, me te āwhina i tō tamaiti kia pai ake te mahi. Mā te tiaki hauora tika, te whakaora tinana, me te aroha me te tautoko a te whānau, ka taea e ēnei tamariki te whakatutuki i ō rātou pūmanawa katoa.
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