Kei roto i ngā pūtau o tō tinana te cystine e hangai ana? Ko te cystinosis tēnei!

Whakaarohia, he aha te mea ka tupu mēnā ka tīmata te kohikohi i roto i ngā pūtau iti o tō tātou tinana he waikawa amino e kiia nei ko te `(cystine)` (cysteine)? Koinei te āhua e kiia nei ko te `(Cystinosis). He mate ira onge tēnei kāore e kitea pinepinetia ana, engari me whakaaro he mea tino nui. Ina nui rawa te kohikohinga o te `(cystine)` i roto i ngā pūtau, ka taea te pakaru i aua pūtau. Hei whakamārama, ka puta he tioata iti i roto i ngā pūtau i tēnei `(cystine)`, ā, ina kohikohia, ka puta he raruraru ki ngā momo okana me ngā kiko o roto i tō tātou tinana. Me kōrero tātou mō tēnei `(Cystinosis)` i roto i ngā taipitopito me ngā kōrero māmā noa iho i tēnei rā, āe?

He aha te Cystinosis? Kia mārama tātou!

He māmā noa iho, he mate ira te cystinosis. Ko te mea ka tupu i roto i tēnei, ka kohia te waikawa amino `(cystine)` (cysteine) ki roto i ō tātou pūtau. He mea nui rawa ngā waikawa amino mō tō tātou tinana. Heoi, ki te nui rawa atu tēnei `(cystine)` i roto i ngā pūtau, ka kino ki ngā pūtau. Nā tēnei nui rawa atu `(cystine)` , ka puta he tioata iti pērā i ngā mea i roto i ngā pūtau. Ka āta kohia ēnei tioata, ā, ka tīmata te kino i ngā whekau me ngā kiko o roto i tō tātou tinana.

Ko ngā whatukuhu me ngā kanohi te nuinga o te wā ka pā ki te cystinosis. Heoi, ka taea hoki e ia te kino ki te roro, ki ngā uaua, ki te ate, ki te tairoi, ki te repeure, ā, i roto i ngā tāne, ki ngā testicle.

He tino onge tēnei, arā, kotahi i roto i te mano tāngata e pāngia ana. Heoi, he mate tino kino, he mate mō te wā katoa . Heoi, ki te kitea wawetia, ā, ka rongoatia tika, ka taea te whakahaere i te whanaketanga me te kino haere o te mate. Heoi, he maha ngā tāngata ka pāngia e te mate tākihi wāhanga whakamutunga, ā, me whai whakawhitinga tākihi.

He rerekē ngā momo cystinosis?

Ae, e toru ngā momo matua o te cystinosis. Ka whakarōpūtia ēnei momo i runga i te tau i puta tuatahi ai ngā tohu (arā, te wā i tīmata ai te mate) me te kaha o ngā tohu.

1. Te cystinosis nephropathic (momo pēpi)

Koinei te momo tino noa . Tata ki te 95% o te hunga e pāngia ana e te cystinosis he momo tēnei. Koinei hoki te momo tino kino . Ka kiia hoki ko te cystinosis pēpi.

Ka pāngia ngā pēpi e tēnei `(Nephropathic cystinosis)` e tētahi mate motuhake e kino ai ngā whatukuhu . Ko te `(renal Fanconi syndrome)` te ingoa. I roto i tēnei mate, kāore ngā kohuke me ētahi atu matūkai e hiahiatia ana e te tinana e mimiti tika ana ki roto i te toto, engari ka tukuna ki roto i te mimi. Whakaarohia, ina ngaro i te tinana o tētahi tamaiti iti ngā mea e hiahiatia ana e ia i tēnei ara,Ka pōturi te tipu o te pēpi, ka ngoikore ngā wheua, ka piko pea (e kiia ana hoki tēnei ko te "rickets"), ā, he maha atu anō ngā raruraru ka pā mai.

I te nuinga o te wā, i te rua o ngā tau , ka tīmata te hanga o ngā tioata cystine i roto i te kornea o ngā kanohi o te tamaiti. Ka kohikohi ēnei tioata, ā, i roto i te wā, ka pāngia ngā kanohi e te māramatanga (photophobia). Ka taea e tēnei te whakararu i te mamae me te kore whakamarie o ngā kanohi . He rite ki te kikorangi o ngā kanohi ina pāngia e te rā.

Me tino hiahia ngā tamariki e pāngia ana e tēnei `(Nephropathic cystinosis)` ki te whakawhitinga whatukuhu. Ki te kore e rongoatia, ka kore e mahi tika ngā whatukuhu i te 10 tau te pakeke. Heoi, ki te rongoatia tika, ka taea e ēnei tamariki te ora tae noa ki te pakeketanga me te kounga pai o te oranga.

2. Te mate pūkahukahu waenga (momo tīmatanga tamariki)

Ka kiia hoki tēnei ko te cystinosis taiohi, ko te cystinosis tamariki rānei. He rite ngā tohu ki ērā o te cystinosis pēpi, engari ka puta ngā tohu i te mutunga o te tamarikitanga, i te taiohitanga rānei . Tērā pea he ngawari ngā tohu, ka kaha haere rānei i roto i te wā.

Ko te hunga e pāngia ana e tēnei momo cystinosis ka hiahia ki te whakawhitinga whatukuhu. Ki te kore e rongoatia, ka kore e mahi tika ngā whatukuhu i roto i ngā tau 15-25 .

3. Ko te cystinosis kore-nephropathic (te momo e pā ana ki ngā kanohi anake)

Ka kiia hoki tēnei ko te benign cystinosis, ko te ocular cystinosis rānei. Ko ngā kanohi anake ka pā ki tēnei momo. Ka puta ngā tioata cystine i roto i te cornea o te kanohi, ka puta te photophobia. Heoi, ko te nuinga o te hunga whai tēnei momo kāore he kino o te whatukuhu, kāore hoki he tohu kē atu .

Ka rerekē pea te tau e kitea ai tēnei mate (cystinosis kore-nephropathic), nā te mea he iti ake ngā tohu. Heoi, he maha ngā wā ka pāngia te hunga pakeke waenga-pakeke.

Ko wai ka pāngia e te cystinosis?

He mate ira te Cystinosis ka pā ki te tangata katoa . Ka tukuna iho te mate i roto i te tauira autosomal recessive. Ko te tikanga me mau i ngā mātua e rua te ira kua whakarerekētia mō te mate . Mena he kawe i te ira kua whakarerekētia ngā mātua e rua (arā, kāore he tohu o te mate, engari kei a rātou te ira), e 25% (kotahi i roto i te whā) te tūponotanga ka whānau he tamaiti me te cystinosis.

He pēhea te noa o tēnei mate?

He mate tino onge te Cystinosis. Kotahi anake i roto i te 100,000 ki te 200,000 whānautanga ka pā ki te ao katoa.

He aha te pānga o te cystinosis ki tō tātou tinana?

Ko te Cystinosis he mate nō te rōpū mate e kiia nei ko te `(lysosomal storage disorder)`. Whakaarohia, kei roto i ō tātou pūtau he whekau iti e kiia nei ko ngā `(lysosomes)` . He rite ēnei ki ngā ipu para o te pūtau. Ka wawahia e rātou ngā matūkai pēnei i te warowaihā, te pūmua, me te ngako. Ko ētahi pūmua he `(enzymes)`, ā, ka āwhina i te tinana ki te mimiti i ēnei matūkai. Ko ētahi atu pūmua he `(transporters)`. Arā, ka tangohia e ēnei kawe te toenga `(cystine)` mai i aua mea pakaru mai i ngā lysosomes.

Nā, ki te ngaro tētahi o aua pūmua kawe, kāore e taea e te `(cystine)` te puta i ngā lysosomes ka tīmata te kohikohi ki roto i ngā pūtau. Ko te wā tēnā ka hanga tautau te `(cystine)`, ka kino ai ngā okana.

He aha ngā tohu o te cystinosis?

Ka rerekē ngā tohu me tōna kaha i runga i te tau i tīmata ai te mate me te wā i tautuhia ai.

Ko ngā tohu o te cystinosis nephropathic (te āhua pēpi) ka tīmata te puta i waenga i te 6 me te 18 marama te pakeke , ina pakaru ngā whatukuhu. Koinei ngā tohu matua:

• Te matewai nui (polydipsia).
• Te nui o te mimi (polyuria).
• Ngā taurite koretake o te irahiko i roto i te tinana.
• Te ruaki.
• Te maroketanga.
• Te kirika.

Ko ētahi atu tohu pea ko:

• Te ngoikore o ngā wheua, te rickets.
• Te korenga e tupu.
• Te kohao, te kapua rānei o te kornea o ngā kanohi.
• Te aro nui ki te mārama (photophobia).
• Te ngoikore o te tirohanga.
• Te uaua ki te horomi (dysphagia).

He rite tonu ngā tohu o te cystinosis waenga (te āhua taitamariki) ki ērā o te āhua pēpi. Heoi, ka tīmata te puta mai i te mutunga o te tamarikitanga, i te taiohitanga rānei. Waihoki, tera pea ka iti ake te kaha o ngā tohu. Ko ētahi atu tohu ka kitea pea i roto i tēnei āhua ko:

• Ngenge, ngenge.
• Te ngoikore o te uaua.
• Te mate uaua `(myopathy)` (myopathy).
• Te roa poto.
• Te pakeketanga kua roa.
• Te kore tamariki.

Ko te ocular cystinosis (non-nephropathic cystinosis) ka pā ki te cornea o te kanohi anake. Ko te photophobia te tohu anake i te nuinga o te wā . Kāore he tohu e pā ana ki te whatukuhu.

He aha ngā take o te cystinosis?

Nā ngā whakarerekētanga ira o te ira e kiia nei ko te CTNS tēnei.Ko tēnei ira `(CTNS)` e tohutohu ana i tō tātou tinana kia hanga he pūmua e kiia nei ko `(cystinosin)`. Ko `(Cystinosin)` te pūmua kawe i whakahuatia i mua ake nei. Arā, ko tana mahi he tango i te waikawa amino `(cystine)` i roto i ngā lysosomes.

Nō reira, ina puta he whakarerekētanga ira i roto i te ira `(CTNS)`, he hapa kei roto i te pūmua `(cystinosin)`. Kātahi ka kore e taea e te `(cystine)` te puta i roto i ngā lysosomes, ā, ka tīmata te kohikohi. Ko te wā tēnā ka puta ai ngā cysts, ka kino ai ngā pūtau i roto i ngā whekau.

Kua roa te kīanga he "tauira tuku iho autosomal" tēnei. Ko te tikanga me kawe e ngā mātua e rua tēnei ira kua whakarerekētia (kāore he tohu o te mate i roto i a rāua) . Mēnā ka riro i ngā mātua e rua tēnei ira kua whakarerekētia, ka pāngia te tamaiti e tēnei mate.

Me pēhea te tautuhi i te Cystinosis?

Ka pātai atu tō tākuta ki a koe mō ō tohu me tō hītori hauora whānau. Kātahi ka whakahaerehia e ia he whakamātautau tinana, ā, ka whakahau i ētahi whakamātautau hei tautuhi i te mate.

He aha ngā whakamātautau e mahia ana mō tēnei?

Ka taea e te tākuta te whakahaere i ēnei whakamātautau:

• Whakamātautau toto: Ka tangohia he tauira o tō toto, ā, ka tirohia te taumata o te cystine i roto i ngā toto mā.
• Whakamātautau ira: Ka tirohia e te tohunga ira ngā whakarerekētanga ira i roto i tō ira CTNS.
• Te tātari mimi: Ka tangohia he tauira mimi, ka tirohia mēnā he nui rawa ngā kohuke, ngā matūkai, ngā tote me ngā waikawa amino.
• Te whakamātautau kanohi: Ka whakamahia e te tākuta kanohi he karu hiko motuhake (he rama kuiti) hei rapu i ngā tioata cystine i roto i tō kornea.

Mena kei te hapu koe, ā, kei te pāngia tētahi o tō whānau e te cystinosis, ā, kua kitea ko kōrua ko tō hoa he kawe i te mate, ka taea te whakahaere whakamātautau i mua i te whānautanga, pērā i te amniocentesis, hei kimi mēnā kei tō pēpi te mate . Ko te tikanga o tēnei ko te tango i tētahi tauira o ngā pūtau mai i te wai amniotic e karapoti ana i te pēpi, me te tirotiro i ngā taumata cystine.

Ka taea hoki te whakamahi i tētahi atu whakamātautau e kīia nei ko te "chorionic villus sampling". Ka whakamātautauhia ngā pūtau i roto i te whenua whānau.

He aha ngā maimoatanga mō te cystinosis?

Ko te rongoā e kiia nei ko te Cysteamine

Ko te rongoā matua mō te cystinosis he rongoā e kīia ana ko te cysteamine . He rongoā whakaiti cystine tēnei. Ko te tikanga ka whakaiti i ngā taumata o te cystine i roto i ō pūtau.

Ki te tīmata wawe te rongoā '(cysteamine)', ka taea te whakahaere me te whakaroa i te kino o te whatukuhu.. Kua āwhina tēnei rongoā ki te whakaroa i te hiahia mō te whakawhitinga whatukuhu. Kua taea e ētahi tamariki te whakaroa i te whakawhitinga whatukuhu tae noa ki te pakeketanga. Waihoki, ka whakapai ake tēnei rongoā i te tipu o ngā tamariki e pangia ana e te mate.

E rua ngā momo `(Cysteamine)`: `(Cystagon™)` me `(Procysbi™)` (he ingoa waitohu ēnei). Me tango te `(Cystagon™)` i ia ono hāora. He paninga motuhake tō te `(Procysbi™)` (mō te hunga neke atu i te 6 tau te pakeke), nō reira ka taea te tango i ia 12 hāora.

Kāore te rongoā noa `(cysteamine)` e rongoā i ngā tioata `(cystine)` i roto i te kornea o te kanohi. Mō tēnei, e rua ngā momo pata kanohi `(cysteamine)` kua whakaaetia e te US Food and Drug Administration `(FDA): `(Cystaran™)` me `(Cystadrops™)`. Me pania ēnei pata kia kotahi i te haora i a koe e ara ana. Ka whakarewahia e rātou ngā tioata i roto i te kornea, ā, ka whakaiti i te aro ki te mārama.

Ētahi atu maimoatanga

Tērā pea me ētahi atu maimoatanga mō ngā tamariki e pāngia ana e te cystinosis, i runga i ō rātou tohu. Ko ngā maimoatanga mō te mate Fanconi ko:

• Inumia he nui te wai me ngā electrolytes (hei ārai i te ngaronga nui o te wai mai i te tinana).
• He rongoā hei pupuri i te taurite tote o te tinana.
• He rongoā hei whakatika i te hapa o te mimiti o te phosphate e ngā whatukuhu.

Ko ētahi atu maimoatanga mō te cystinosis ko:

• Te rongoā homoni tipu.
• Mena he mate huka e whakawhirinaki ana ki te insulin tōu, me whai insulin koe.
• Testosterone mō ngā tāne e pāngia ana e te hypogonadism.
• Te whakaora kōrero me te reo.
• Te tohutohu ira.

Ko ētahi tamariki e uaua ana ki te kai, me whāngai mā roto i tētahi ngongo (ngā ngongo kai). Ka whakamahia tēnei ngongo hei whakarato i te kai tika me te hoatu rongoā.

Ka taea hoki te rongoā i te ocular cystinosis, e pā ana ki ngā kanohi anake, i ēnei huarahi e whai ake nei:

• Te karo i te mārama kanapa.
• Te mau mōhiti kanohi.
• Te pupuri i ngā kanohi kia makuku.
• He tino onge pea te hiahia ki te whakawhitinga kornea.

Te whakawhitinga whatukuhu

Ahakoa te kitenga wawe me te maimoatanga, ka pāngia te hunga e pangia ana e te mate pukupuku whatukuhu me te mate pukupuku cystinosis waenga. I te tīmatanga, ka rongoā pea tō tākuta i te mate pukupuku whatukuhu mā te dialysis. He mīhini te dialysis e tango ana i ētahi o ngā mahi a ō whatukuhu. Ka tātarihia e ia ngā para mai i ō toto, ā, ka āwhina ki te pupuri i ngā taumata tika o ētahi matū i roto i tō tinana. Heoi, kāore e taea te whakaora i te mate pukupuku whatukuhu, ā, i te mutunga ka hiahiatia he whakawhitinga whatukuhu .

He tino angitu ngā whakawhitinga whatukuhu mō te hunga e pāngia ana e te cystinosis. Kāore te cystine e kohia ana e te whatukuhu i kohia . Heoi, ka taea tonu e te cystine te kohia ki roto i ētahi atu okana o tō tinana. Nō reira, me tango rongoā koe mō te toenga o tō oranga .

He pānga taha kei te rongoā?

He kakara kino te rongoā `(cysteamine)`, ā, he reka kino hoki . Nō reira, ka pāngia ētahi tāngata e te whakapairuaki, te ruaki, me te mamae o te puku i te wā e tango ana i tēnei rongoā. Ka taea hoki e te `(cysteamine)` te whakaputa i te waikawa puku nui rawa atu. Ka tango ētahi tāngata i ngā rongoā pēnei i te `(proton pump inhibitors)` hei whakaiti i te waikawa puku. Ka taea e tēnei te whakaiti i ngā tohumate o te puku. Ka taea hoki e te `(cysteamine)` te whakaputa i te manawa kino `(halitosis)` me te manawa kino.

Ka taea te ārai i te Cystinosis?

He mate ira te Cystinosis, nō reira kāore e taea te ārai . Mena kei te hapu koe, kei te whakaaro rānei koe kia hapu, me whai whakaaro koe ki te whakamātautau ira kia kitea ai mena kei te mōrearea tō pēpi ki te pangia e te mate.

He aha te āhua o te tangata e pāngia ana e te mate pukupuku cystinosis? / Kia pēhea te roa o tōna oranga?

I mua, he mate whakamate te cystinosis nephropathic mō ngā tamariki nohinohi. Engari i ēnei rā, nā te whanaketanga o te rongoā cysteamine me te whanaketanga o te whakawhitinga whatukuhu, kua roa ake te roanga o te oranga o te hunga whai cystinosis tae noa ki te pakeketanga . Ka ora ētahi tāngata neke atu i te 50 tau te pakeke.

He mea nui te kitenga wawe i te cystinosis. Mēnā ka tika te maimoatanga, ka taea te whakahaere i te mate. Mēnā kāore i te rongoatia, ka pāngia ngā tamariki e te cystinosis e te ngoikore o te whatukuhu i te 10 tau te pakeke. Ahakoa te maimoatanga, he maha ngā tamariki ka pāngia e te ngoikore o te whatukuhu i te mutunga o te tamarikitanga, i te taiohitanga rānei. Me mahi tēnei i te dialysis, ā, i te mutunga ka hiahiatia he whakawhitinga whatukuhu.

Ki te tango koe i te cysteamine, me tango tonu e koe mō te wā katoa . Kua whakaatuhia e ngā rangahau ka taea e ia te ārai i ngā raruraru tōmuri o te cystinosis kāore e pā ana ki ngā whatukuhu.

Hei whakamutunga, ngā mea hei maumahara

He mate ira te Cystinosis ka puta he maha ngā tohu. Mēnā ka kitea wawetia, ka rongoatia hoki, ka taea te whakahaere i te whanaketanga o te mate . I mua he mate kino ki ngā tamariki nohinohi, inaianei ka taea te rongoa i tēnei mate mā te rongoā. Ahakoa te rongoā, ka pāngia te hunga whai cystinosis e te ngoikore o te whatukuhu, ā, me whakawhiti whatukuhu. Heoi, kei te ora pai te hunga whai mate nei tae noa ki te pakeketanga.

Mena kei a koe, kei tētahi atu rānei e mōhio ana koe, ēnei tohu, he mea tino nui kia rapu tohutohu hauora tonu atu.Kaua e manukanuka, engari he mea pai kia mōhio te katoa ki ngā mea pēnei.

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