Kei te pāngia tō pēpi e te raruraru tipu wheua? Me ako tātou mō te Diastrophic Dysplasia

Kua rongo kē koe i ngā kupu "Diastrophic Dysplasia"? He mea hou pea tēnei ki a koe. Engari he mate hauora onge, motuhake hoki tēnei me mōhio tātou. Whakaarohia, i ētahi wā ka kite tātou i ngā mea pēnei i te poto o ngā waewae o ā tātou tamariki, ā, kāore e taea te toro tika i ngā hononga, ka tino mataku tātou, kāore? He mate tēnei ka puta ai ēnei tohu. Nō reira, me kōrero noa tātou mō tēnei i tēnei rā, i roto i tētahi huarahi e tino mārama ai koe.

He aha rawa tēnei dysplasia diastrophic?

He whakarāpopototanga noa iho, he mate onge te dysplasia dystrophic e pā ana ki te whanaketanga tika o te kiriuhi me te wheua . He mea whānau mai , arā, ka whānau mai he tamaiti me tēnei mate. Ka taea te tuku iho i roto i ngā whakatipuranga.

Ka taea e tēnei āhuatanga te arahi ki ngā mea e whai ake nei:

• Te ngoikore o ngā hononga: Ko te tikanga tēnei kāore ngā hononga o te tinana e whanake tika ana.
• Te poto o ngā ringa me ngā waewae.
• Te poto o te tinana .
• Te whanaketanga rerekē o te pūnaha angaiwi (skeletal dysplasia).

Ka pā pea tēnei āhuatanga ki ngā wāhanga rerekē o te tinana. Hei tauira:

• Taringa
• Kanohi
• Waewae
• Ringaringa
• Rohe hope
• Waewae
• Tuaiwi

I ētahi wā ka karangatia ko 'DD', ko 'DTD' rānei, ko 'Diastrophic dwarfism', ko 'Diastrophic nanism syndrome' rānei. Ahakoa pēhea, he rite tonu te tikanga o tēnei mate.

E hia te onge o tēnei āhuatanga?

He tino onge tēnei mate . E kiia ana kotahi anake i roto i te 500,000 pēpi hou e pāngia ana e tēnei mate. Heoi, i ētahi whenua, pērā i a Finland, he maha ake ngā kitenga o tēnei mate. E kiia ana ko ō rātou hononga tuku iho te take. I taua whenua, kotahi anake i roto i te 30,000 tamariki e pāngia ana e tēnei mate.

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He aha tēnei e tupu nei? He aha te take o tēnei?

Ko te tino take o te dysplasia dystrophic he whakarerekētanga ira . He mea tuku iho tēnei. Ko te tikanga, ki te pāngia tētahi o te whānau e tēnei mate, tera pea ka pāngia anō hoki ā rātou tamariki e tēnei mate.

Ka pā tēnei whakarerekētanga ira ki tētahi ira he mea tino nui mō te whanaketanga o te kiriuhi i roto i tō tātou tinana. Kei te mōhio koe, he kiko kaha, he kiko ngāwari te kiriuhi e whakamahia ana hei hanga i te angaanga o te pēpi i te wā o te kukune, arā, i roto i te kōpū o te whaea.

Ka huri te nuinga o te kiriuhi hei wheua i te tipu o te pēpi. Engari ka noho tonu te kiriuhi ki ngā wāhi pēnei i ngā pito o ngā wheua, te ihu, me ngā taringa. Nō reira, ina puta te whakarerekētanga ira, kāore e taea e taua ira te whai wāhi tika ki te hanganga o te kiriuhi me te wheua.

He aha te whakarerekētanga ira e pā ana ki tēnei?

Ko te whakarerekētanga ira motuhake e puta ai tēnei āhuatanga, ko te "DTD," ka puta i roto i te ira "SLC26A2" . Ka kiia hoki ko te "DTDST" (dystrophic dysplasia sulfate transporter). Ka whakaputahia e tēnei ira he pūmua e āwhina ana ki te hanga kiriuhi me te huri i te kiriuhi hei wheua.

Ko te mea nui, ka taea e te tangata te noho hei "kaikawe" o tēnei whakarerekētanga ira, engari kāore e pāngia e te mate. Heoi, ki te mea he kawe ngā mātua e rua, e 25% te tūponotanga ka pāngia tā rāua tamaiti e te mate.

He aha ngā tohu ka kitea i roto i tēnei āhuatanga?

Ka rerekē ngā tohu o te diastrophic dwarfism i ia tangata, i ia tangata. Ahakoa he poto te tinana o te nuinga o te tangata, he puhoi hoki te tipu, ka puta anō hoki ētahi atu tohu i ngā wāhanga rerekē o te tinana. Me titiro tātou ki ēnei tohu.

Ngā tohu ka kitea i te taha o te māhunga me te waha:

• He rae whānui , he makawe teitei.
• Te matotoru o te taringa, te pupuhi, te huri rānei o te āhua .
• Te iti rawa o te kauae (micrognathia).
• Ngā āhuatanga rerekē o ngā niho, hei tauira, he iti, he piri rānei ngā niho.
• He puaretanga rerekē te waha ngatata i te tuanui o te mangai.
• Te uaua ki te manawa .

Ngā āhuatanga o ngā peka:

• Ngā maihao poto rawa (brachydactyly).
• "Ngā koromatua o te kaieke hoiho" – arā, kua anga whakaroto ngā koromatua.
• Ka hurihia tetahi, e rua rānei ngā waewae ki roto ('waewae karapu'). Ka kiia hoki tēnei he waewae karapu .
• Ngā ringa me ngā waewae poto, kua tāia .

Ngā āhuatanga o ngā hononga:

• Ngā āhua rerekē o ngā hononga (' contractures' ) – Ka kore pea e taea e ngā hononga te toro katoa, ā, ka iti pea te nekehanga.
• Ka raka ētahi hononga, ka kore e nekeneke . Ka whakawhāitihia hoki e tēnei te nekehanga.
• Te pakari, te wetekere rānei o ngā hononga, te nekenekehanga rānei o ngā hononga.
• Te mamae o ngā hononga e pā ana ki te osteoarthritis.

Ngā āhuatanga o te tuara:

• Te piko whakamua o te tuaiwi (kyphosis), ka āhua piko ai te tuaiwi.
• Te piko o te tuaiwi ki te taha (scoliosis).

He pānga tēnei ki te whanaketanga o te roro?

Kāore he pūrongo mō te dysplasia dystrophic e pā ana ki te roro, ki te whanaketanga rānei o te roro . He pai te hinengaro o te hunga whai mate pēnei. Nō reira, kāore he mea hei manukanuka.

Me pēhea te tautuhi i tēnei mate?

I ētahi wā, ka kitea te dystrophic dwarfism i mua i te whānautanga o te pēpi . Mena kei roto i tō whānau tēnei mate, ka tūtohu pea ngā tākuta kia whakamātauria ngā ira i te tīmatanga o te hapūtanga.

Ka taea hoki te kite i te āhua nei mā te whakamahi i te ultrasound fetal ultrasonography) . Ka tangohia e tēnei whakamātautau ngā whakaahua o te pēpi i a ia e whanake ana i roto i te kōpū. Mena ka whakaatuhia e ngā pikitia ētahi āhuatanga rerekē, ngā āhua rerekē rānei o ngā wheua, ka tūtohu pea te tākuta kia whakamātauria he whakamātautau ira mō te dysplasia dystrophic.

Heoi, i te nuinga o te wā, ka kitea tēnei mate i muri i te whānautanga o te pēpi . Ka kitea te mate mā te whakamātautau tinana o te pēpi me ngā whakamātautau whakaahua e whakaatu ana i ngā wheua kua hē, kua poto rānei.

He aha te rongoā mō tēnei?

Ko te pono, kāore he rongoā mō te DTD. Ko te kaupapa matua o te maimoatanga ko te whakahaere i ngā tohu o ia tangata, me te āwhina i a rātou kia mau tonu te hauora me te oranga pai rawa atu.

Tērā pea ka hiahia te tangata whai mate pēnei ki te āwhina a tētahi rōpū tohunga . Hei tauira:

• He tohunga te tohunga whakarongo e rongoā ana i ngā raruraru whakarongo .
• Me āwhina te whānau e te kaiwhakatakoto whakaaro ira kia mārama ki tēnei āhuatanga.
• Ka taea e ngā tohunga kai te tuku tohutohu kai ina pāngia koe e ngā raruraru ā-waha me te kai.
• He tākuta niho motuhake te tākuta niho whakahāngai e rongoā ana i ngā raruraru e pā ana ki ngā niho me ngā kauae.
• He tohunga wheua me ngā hononga (he tohunga wheua me ngā hononga).
• He tākuta tamariki .
• Ka āwhina ngā kaiwhakaora tinana me ngā kaiwhakaora mahi i a koe ki te neke pai me te mahi i ngā mahi o ia rā.
• Ka āwhina te tākuta mate pūkahukahu ( he tākuta e tohunga ana ki ngā mate pūkahukahu ) ki te whakahaere i ngā uauatanga manawa.
• Mena e tika ana, ka whakatikahia e ngā taote pokanga ngā āhua hē.

Mā te āwhina a ēnei tāngata katoa, ka taea e tātou te whakarato i te tautoko e hiahiatia ana hei āwhina i te tamaiti kia ora i te oranga pai rawa atu.

He ara hei ārai i tēnei?

Kāore he huarahi hei ārai i te dystrophic dwarfism. Mena kei roto i tō whānau tēnei mate, me whakamātautau ira i mua i te haputanga.He mea pai kia kōrero koe ki tō tākuta mō tēnei. Mā te whakamātautau me te tohutohu ka taea te whakatau mēnā he kaikawe koe i te mate, me pēhea hoki tōna pānga ki tō whānau.

Nā, me pēhea rā te āhua o te ao i tēnei āhuatanga?

Ka mate pea ngā pēpi hou e pāngia ana e te diastrophic dysplasia. Heoi, he tokomaha te hunga e ora ana ki te pakeketanga . I runga i te kaha o te mate, me noho pea rātou me te mamae me te hauātanga. Heoi, me te tiaki hauora me te tautoko tika, ka taea hoki e rātou te ora i te oranga pai.

Ngā pātai nui hei pātai atu ki tō tākuta

Mena he dysplasia dystrophic tō tāu tamaiti, he mea nui kia ako atu mā te pātai i ēnei pātai:

• Ko ēhea ngā wāhanga o te tinana o taku tamaiti e pāngia ana?
• He mea tēnei ka pā ki a koe mō tōu oranga katoa?
• He aha te momo tohunga me toro atu taku tamaiti? Kia hia te auau?
• He aha ngā mea ka taea e tātou te mahi hei whakahaere i te mamae o te wheua, o ngā hononga rānei?
• He rōpū tautoko kei reira mō te hunga whai mate pēnei, ngā mate rite rānei?
• Mena he maha atu aku tamariki, ka pāngia rātou e tēnei mate?

Hei whakamutunga, ko te mea tino nui hei maumahara!

He mate onge, he mate whānau mai te dysplasia dystrophic e pā ana ki te whanaketanga noa o te kiriuhi me ngā wheua . He poto te roa o te hunga whai mate nei, he poto ngā waewae, he raruraru hononga hoki. Mena kei roto i tō whānau tēnei mate, he mea nui kia kōrero koe ki te tākuta mō ngā whakamātautau ira me te tohutohu.

Kia maumahara, kāore koe i te mokemoke. I roto i tēnei āhuatanga, he mea nui kia mōhio koe ki ngā mōhiotanga tika, kia whiwhi i ngā tohutohu hauora e tika ana, kia hono atu hoki ki te hunga hei tautoko i a koe. Kaua e wehi ki te pātai atu ki ngā tākuta me te tono āwhina.