Kei te pāngia tetahi o tō whānau e te mate Danon? Me kōrero tātou mō tēnei!

Kua rongo kē koe i te mate Danon? Tērā pea he ingoa hou tēnei ki a koe. He mate onge, he mate ira, kāore e pā ki te tini tāngata. Engari he mea tika kia mōhio koe ki tēnei mate nā te mea ka pā ki te ngākau, ki ngā uaua, ki ngā kanohi, tae noa ki te roro. Me kōrero taipitopito tātou mō tēnei i tēnei rā.

He aha te mate Danon?

He māmā noa iho, he mate onge te mate Danon ka taea te tuku iho i roto i ō tātou ira mai i tētahi whakatipuranga ki tētahi whakatipuranga. Ka taea e ia te kino i ngā wāhanga rerekē o tō tātou tinana, inā koa te ngākau, ngā uaua, te retina, me te roro . Heoi, kāore e rite ngā tohu ki te katoa, he rerekē i ia tangata, i ia tangata.

Kei roto te mate Danon i tētahi rōpū nui o ngā mate e kiia nei ko ngā 'Lysosomal Storage Disorders' (LSD). Neke atu i te 50 ngā momo mate kei raro i tēnei rōpū. Whakaarohia, kei roto i ō tātou pūtau he wāhanga pērā i ngā wheketere iti e kiia nei ko ngā 'lysosomes'. Ko te mahi matua o ēnei ko te wawahi me te horoi i ngā mea koretake me ngā para e puta mai ana i roto i ngā pūtau. He rite ki te tango i ngā para i roto i tō tātou whare.

Nō reira, kāore e taea e ngā pūtau o te tangata e pāngia ana e tēnei 'Lysosomal Storage Disorder' te mahi tika i tēnei mahi. Ka ahatia? Ka tīmata aua mea kāore e hiahiatia, arā, ngā paitini, ki te kohikohi i roto i ngā pūtau. I roto i te wā, ka kino ngā pūtau, ā, mā roto i a rātou, ngā whekau hoki, ēnei paitini kua kohikohia. Koinei te mea e tupu ana i roto i te mate Danon.

He mate tuku iho tēnei. Ko te tikanga ka tukuna iho i waenga i ngā mātua ki ngā tamariki. Ina koa, he nui ake te tūponotanga ka pāngia ngā tama e te mate, ā, he nui ake hoki ngā tohu kino ka pā mai i ngā kōtiro.

He aha ngā tohu o te mate Danon?

Ahakoa he rerekē ngā tohu o te mate Danon i ia tangata, he maha ngā tohu matua ka kitea:

• Cardiomyopathie: Koinei te tohu tuatahi ka puta. Kei roto i tēnei ko te mamae o te uma, te kikī rānei, te ngenge, te wiri, te pāorooro rānei o te uma. I ētahi wā, ka puta te poto o te manawa me te pupuhi o ngā waewae.
• Ngāwari te ngenge o te uaua (Myopathy): Whakaarohia, he uaua ki a koe te noho i runga i te tūru, te hikoi, te rongo rānei koe i te ngoikore o tō tuara, tō kaki, ō pakihiwi, ō ringaringa o runga, ō waewae o runga rānei. Mena he tamaiti nohinohi koe, ka ngaro pea tō hiahia ki te oma me te tākaro, ka uaua rānei ki a koe te piki arawhata. He tohu ēnei o te ngoikore o te uaua.
• Ngā raruraru kanohi (Retinopathy): Ka puta pea he tirohanga pōuri, he kanohi e rere ana, he kanapa rānei o te mārama. Ka uaua pea te pānui, te mātaki pouaka whakaata rānei.
• Ngā hauātanga hinengaro: He nui ake te kitea o ēnei i roto i ngā tama. He mea noa ngā raruraru whanonga, pērā i te panonitanga o ngā whanonga ina tata atu ki ētahi atu, me te whakaroa i te kōrero, i te reo rānei. Ahakoa he tino onge, ka puta anō hoki ngā raruraru hinengaro. Hei tauira, ko te uaua ki te aro ki ngā mahi kura me te puhoi o te ako i ngā mea hou.

Te pānga o te ira tangata ki te

Mō ngā tama, ka tīmata ngā tohumate i te wā taitamariki, arā, i te wā tamarikitanga, taiohitanga rānei . Ā, ka tere haere te whanaketanga o ēnei tohumate, ka kino haere.

Engari ki te titiro koe ki ngā kōtiro, i ētahi wā kāore pea he tohu. Tērā pea ka puta ngā tohu i te mutunga o te taiohitanga, i te tīmatanga rānei o te pakeketanga. Ka puhoi ake te whanaketanga o ngā tohu i roto i ngā kōtiro, ā, he maha ngā wā kāore i te tino kino. Heoi, he mea nui kia mahara i ētahi wā ka tino kino.

Ngā momo o te Cardiomyopathy

E rua ngā momo matua o te cardiomyopathy e kitea ana i roto i te mate Danon:

• Te Cardiomyopathy Hypertrophic: Koinei te momo tino noa. He whakamātotorutanga rerekē o te uaua o te ngākau.
• Te Mate Puku o te Ngākau: He nui ake te kitea o tēnei i roto i ngā wāhine. Koinei te wāhi ka nui haere ngā rūma o te ngākau, ka ngoikore ai te ngākau.

He aha ngā take o te mate Danon?

Ko te tino take o te mate Danon ko ngā panoni, ngā whakarerekētanga rānei, i roto i tētahi ira motuhake e kiia nei ko te `LAMP2`. E mōhio ana koe, ko ngā mea katoa o roto i tō tātou tinana e whakahaeretia ana e ngā ira. Pērā i te pūmanawa i roto i te rorohiko, ka tohutohu hoki ēnei ira i te mahi a tō tātou tinana.

Nō reira, e whakapono ana ngā kairangahau, ina puta he panoni i roto i tēnei ira `LAMP2`, he raruraru kei te pakitara, kei te kiriuhi rānei o te wāhanga pūtau e kiia nei ko te lysosome i kōrerotia e au i mua ake nei. Heoi anō, kāore anō kia tino mārama te āhua o te puta o tēnei mate. Kei te haere tonu ngā rangahau mō tēnā.

Me pēhea te tātaritanga o te mate Danon?

Ki te kite koe, tō tākuta rānei i ngā tohu o te Mate Danon, tera pea ka whakapae rātou. Kātahi ka pātai atu tō tākuta ki a koe mō ō tohu. Hei tāpiri, ka whakahaerehia e rātou ētahi whakamātautau hei whakaū i te Mate Danon me te whakakore i ētahi atu mate.

Ko te whakamātautau ira (DNA) te mea nui hei āwhina i te tautuhi i tēnei mate. Mā tēnei ka taea te whakatau tika mēnā he whakarerekētanga ira kei roto i te ira `LAMP2`.

I runga i ō tohumate, ka tūtohu pea tō tākuta i ētahi atu whakamātautau. Hei tauira:

• Ngā whakamātautau toto (ngā mahi taiwhanga (toto)).
• He whakamātautau kanohi.
• He tirotiro ā-orooro.
• Whakamātautau matawai CT (matawai tomography rorohiko).
• Whakamātautau MRI (whakaahua aukume).
• Ko te koiora uaua angaiwi ( ka tangohia he wahi iti o te uaua ka tirotirohia).

He whakamātautau ngākau motuhake anō hoki hei tirotiro i te pai o te mahi a te ngākau:

• Ko te koiora o te ngākau - te koiora o te ngākau (te tango i tētahi wāhanga iti o te ngākau hei tirotiro).
• MRI o te ngākau.
• He whakamātautau ECG (Electrocardiogram - EKG) (te tuhi i te ngohe hiko o te ngākau).

He aha atu ngā āhuatanga e rite ana ki te mate Danon?

Tērā ētahi mate hauora e rite ana ngā tohu ki te mate Danon. Nā reira he mea nui kia tika te tautuhi i te mate. Anei ētahi mate e rite ana ngā tohu:

• Te mate rokiroki glycogen whānau (GSD) o te ngākau.
• Te myopathy vacuolar autophagic autophagic o ngā pēpi.
• Ko ētahi atu mate pukupuku o te ngākau, hei tauira ko te mate pukupuku o te ngākau hypertrophic sarcomeric, ko te mate pukupuku whānui rānei.
• Te mate Pompe.
• Te mate Wolff-Parkinson-White (WPW) – Ka kitea tahitia tēnei me te mate Danon i ētahi wā.
• Te myopathy hono-X me te nui rawa o te autophagy.

Ahakoa he ahua uaua tēnei, ka whakaarohia ēnei mea katoa e ngā tākuta, ā, ka tae ki te tautuhi tika.

He aha ngā maimoatanga mō te mate Danon?

Ko te maimoatanga mō te mate Danon e whakawhirinaki ana ki ō tohu me tōna kaha. Ka mahi tahi tō tīma hauora me koe ki te whakawhanake i tētahi mahere maimoatanga e pai ana mōu. Kei roto pea i tēnei:

• Ngā taputapu āwhina: Hei tauira, ngā mōhiti tirohanga, ngā taputapu whakarongo, he taputapu hikoi, he tūru wīra rānei.
• Hinengaro whakaora - he kōrero whakaora, he kōrero whakaora rānei.
• Mena he raruraru ako kei a koe, kei te wātea te tautoko mātauranga.
• Te whakaora tinana hei whakapakari i ngā uaua.

Mō ngā raruraru o te ngākau, ka tūtohu pea tō tohunga i ngā mea penei:

• Ka whakamahia he taputapu whakatō i te cardioverter defibrillator (ICD) hei rongoā i ngā koretake o te manawa o te ngakau (arrhythmia).Ki te mea ka huri whakarere te oro o te ngakau i te mea kāore i te tika, ka taea te whakatika.
• He taputapu aroturuki Holter hei hopu i ngā mahi o tō ngākau puta noa i te rā.
• Ngā rongoā hei whakahaere i ngā raruraru o te ngakau, inā koa te cardiomyopathy.
• Ngā maimoatanga pēnei i te ablation therapy hei rongoā i ngā manawataki o te ngakau kāore i te ōrite.

Mena ka tere te kino haere o te cardiomyopathy, me whai whakawhitinga ngākau pea . He mea nui te tātaritanga me te maimoatanga wawe hei ārai i ngā raruraru morearea pēnei i te matenga ohorere o te ngākau me te ngoikore o te ngākau i te tīmatanga wawe .

Ko wai ka taea te whakauru atu ki taku tīma maimoatanga?

Kāore e ranea te tākuta kotahi i te wā e rongoā ana i te mate Danon. Me whai rōpū tohunga. Ka mahi tahi ēnei tohunga me tō Kaiwhakarato Tiaki Matua (PCP) hei āwhina i a koe. Kei roto pea i tō rōpū:

• Kaimātai ngākau: He tohunga mō te ngākau me ngā oko toto.
• Ngā tohunga tiaki kanohi / Tākuta kanohi: Mō ngā raruraru e pā ana ki ngā kanohi.
• Tohunga ira: He tangata e tohunga ana ki ngā mahi ira.
• Tohunga io: He tākuta e tohunga ana ki te roro, te taurakira, me ngā io.
• Tohunga io-uaua: He tohunga ki ngā uaua me ngā io.

I runga i tō āhua hauora me ngā pānga taha ka pā ki a koe, ka aroturukihia e tēnei tīma hauora ō rongoā me ō maimoatanga, ā, ka mahia ngā huringa e tika ana.

Ka taea te rongoā i te mate Danon?

Engari, kāore he rongoā mō te mate Danon. Heoi, ka taea e tō tākuta te tūtohu i ngā maimoatanga hei āwhina i te whakahaere i ō tohu me te pupuri i tō hauora me te kounga o te oranga ki te taumata teitei. Nō reira, ko te mea nui ko te whai i ngā tohutohu a tō tākuta me te kore e mataku.

He aha te tirohanga mō te mate Danon?

Ko te tirohanga mō te Mate Danon, arā, te pānga o te mate ki a koe, e whakawhirinaki ana ki ētahi āhuatanga. Kei roto i ēnei ko ō tohumate, te kaha o aua tohumate, me te tere o te whanaketanga o te mate. Ka taea e tō tākuta te tohutohu pai ki a koe mō tō āhua motuhake.

Te Mate Danon me te Roanga Ora

I te toharite, ko te roanga o te oranga o ngā tāne me te mate Danon he 19 tau te roa, ā, ko te roanga o te oranga o ngā wāhine he 34 tau. He tokomaha te hunga e hiahia ana ki te whakawhitinga ngākau. He mea noa te mataku ina kite koe i ēnei tatauranga. Engari kia mahara, he toharite noa iho ēnei. He rerekē te katoa.

Ka mahi tahi tō tīma hauora me koe ki te whakahaere i ō tohumate. Ka whakaakona hoki koe e rātou ki ngā wāhi e taea ai e koe me tō whānau te tiki i te tautoko e hiahiatia ana e koe.

Ka taea e au te whakaiti i te mōrearea o taku tamaiti ki te pāngia e te mate Danon?

Ko te mate Danon ka puta mai i te whakarerekētanga ira. Nō reira, kāore he mea ka taea e koe te mahi hei whakaiti i te tūponotanga o tāu tamaiti ki te pangia e te mate. Mena kei roto i tō whānau te mate Danon, he mea pai kia kōrero koe ki tō tākuta mō ngā whakamātautau ira i mua i te whānautanga, ka taea te mahi i te wā e hapu ana .

Nā wai i kite tuatahi i te mate Danon?

I te tau 1981 i whakaahuahia tuatahitia ai te mate e te tohunga roro o Amerika a Maurice Danon, MD . I tae atu ia ki ēnei whakatau i muri i tana tirotiro i ngā tūroro taitamariki e rua he hauātanga hinengaro, he ngākau nui (cardiomegaly), me te ngoikore o te uaua (proximal myopathy).

He tino uaua, he tino taumaha hoki te kitenga kei a koe tētahi mate ira onge pēnei i tēnei. I a koe e tīmata ana ki te noho me tēnei mate, ngana ki te tango i ia rā, i ia rā. Rapua he tautoko mai i tō tīma hauora, i ō hoa, me te whānau. Nā te mea he tino onge tēnei mate, me kōrero pea koe ki ētahi atu mōna. Ahakoa i runga ipurangi, he uaua ki te kimi i ētahi atu tāngata kei roto i tētahi āhuatanga ōrite. Heoi, ka taea e koe te kimi tautoko i roto i ngā rōpū e whakakotahi ana i ngā tūroro me ngā whānau he mate onge kē atu, he mate ngākau rānei.

Hei whakamutunga, ngā mea hei maumahara (Karere hei tango ki te kāinga)

He mate uaua te mate Danon. Heoi, kia maumahara ki ēnei mea:

• He mate ira te mate Danon. Ehara i te mea nā tetahi atu i puta.
• Kāore e ōrite ngā tohu mō te katoa. He rerekētanga i waenga i te tāne me te wahine.
• He mea tino nui te tautuhi wawe i te mate, me te tīmata i te maimoatanga. Ka taea e tēnei te whakaiti i ngā raruraru.
• Ahakoa kāore e taea te whakaora katoa i tēnei mate, kei reira ngā maimoatanga hei whakahaere i ngā tohumate.
• Kāore koe i te mokemoke. Kei reira tētahi tīma hauora pūkenga, whānau, me ngā rōpū tautoko hei āwhina i a koe.
• He mea tino nui te tohutohu ira mō ngā whānau.

Mā te whai i ngā maimoatanga i tūtohutia e ō tākuta, me te whai hoki i ā rātou tohutohu, ka taea e koe te ora i te oranga pai rawa atu. Ko te tumanako ka whai hua ēnei mōhiohio ki a koe.

`Mate Danon, mate Danon, mate ira, mate manawa, Cardiomyopathy, ngoikore uaua, Mate Rokiroki Lysosomal, ira LAMP2