Kua rongo kē koe i tētahi mea e kīia ana ko te 'Mate Refsum'? Tērā pea he ingoa hou tēnei ki te tini tāngata. Nā te mea he tino onge, arā, he mate ira e kore e kitea. Engari he mea nui kia mōhio ki ngā mea pēnei. I tēnei rā, ka kōrero māmā tātou mō te Mate Refsum, i roto i tētahi huarahi e mārama ai koe.

He aha rawa te mate Refsum?

Ki te kī māmā noa, he mate ira te mate Refsum e pā ana ki ngā whekau e rua. Ko tētahi ko te Mate Refsum Pēpi, ko tētahi ko te Mate Refsum Pakeke . Nō roto rāua i tētahi rōpū nui o ngā mate e kiia nei ko ngā "mate Peroxisomal." Ko te mea ka tupu i roto i tēnei, nā ētahi huringa (e kiia ana ēnei e mātou ko ngā "whakarerekētanga") o ngā ira i roto i tō tātou tinana, kāore e taea te wawahi tika i ētahi momo ngako, arā, kāore e taea te nakunaku. Mena kei a koe tēnei mate, ka ngaro i tō tinana ngā whākōkī e āwhina ana ki te wawahi i tētahi momo ngako e kiia nei ko te "waikawa Phytanic." Ko te mea ka tupu, ka tīmata te "waikawa Phytanic" ki te kohikohi i roto i te tinana. Whakaarohia he para iti i roto i tō tātou whare, ā, ka puta he raruraru.

He aha te rerekētanga i waenga i te Refsum pakeke me te Refsum pēpi?

I ngā momo mate Refsum e rua, ka kitea te ngaronga o te tirohanga me te kohikohinga o te `(Phytanic acid)` i roto i te tinana i kōrerotia e au i mua ake nei. Engari ka puta ēnei āhuatanga e rua nā ngā huringa (`(mutations)`) i roto i ngā ira rerekē e rua i mua i tō tātou whānautanga.

• Mate Rewharewha Pēpi: Ko tētahi tēnei o tētahi rōpū mate e kiia nei ko ngā mate Zellweger spectrum. Ka puta ngā tohu i roto i ngā pēpi me ngā tamariki nohinohi. Hei tauira, te ngoikore o te uaua, te whāngai koretake, ngā haurangi , ngā whakaroa whanaketanga , me te mate ate . He mate kino ake te Rewharewha Pēpi i te Rewharewha pakeke. Ka rerekē te roa o te oranga o ngā pēpi me tēnei mate, engari ka mate pea i te mutunga.

• Mate Pāwera Pākeke: Ka puta tēnei i te mutunga o te tamarikitanga, i muri mai rānei. Ko te nuinga o te wā ka ngaro te tirohanga , ka ngaro te hongi , ka ngoikore rānei ngā waewae , ka ngaro hoki te rongo . Kāore i rite ki te Mate Pāwera Pākeke, kāore tēnei e pā ki te roro. Nō reira, kāore e kitea ngā mate hopuhopu, ngā whakaroa whanaketanga rānei. Heoi, tera pea ka pāngia koe e ngā raruraru ngākau nui i muri mai i te ao.

He pēhea te noa o te mate Refsum?

He tino onge te mate Refsum. Tata ki te kotahi i roto i te kotahi rau mano tāngata ka pāngia e te mate Refsum i roto i ngā pēpi. He onge ake te mate Refsum mō ngā pakeke, tata ki te kotahi i roto i te miriona. Nō reira, ka taea e koe te whakaaro he aha te onge o tēnei.

He aha ngā tohu o te mate Refsum?

Ka rerekē ngā tohu o te mate Refsum i runga i te tau ka tīmata ai koe ki te pāngia e ngā tohu.

Te Whakahokinga Tamariki

Mena kei te pāngia tō pēpi e te mate a Refsum, tera pea ka tino ngoikore ia i te whānautanga, me te mea kua mate. Tērā pea ka uaua ki a ia te whāngai ū . Ka whakawhirinaki ō rātou tohu ki te kaha o te mate. Tērā pea ka pāngia rātou e te mate haurangi, ka pāngia rānei rātou e ngā āhuatanga rerekē o ēnei whekau:

• Ngā whatukuhu (`(Ngā whatukuhu)`)
• Ate (`(Ate)`)
• Ngā wheua (ina koa ko ngā wheua roa)

Ka mate pea ngā pēpi e pāngia kinotia ana e te mate i ētahi wā i roto i te tau tuatahi o te oranga.

Tērā pea ka pāngia ngā tamariki pakeke e ēnei āhuatanga:

• Ngā hauātanga whanaketanga
• Te tipu ngoikore
• Ngā raruraru tirohanga me te whakarongo

Whakahokinga Pakeke

Ko te tohu tuatahi o te mate Refsum pakeke ko te ngaronga o te tirohanga pō . Nā te mate e kiia nei ko te `(Retinitis pigmentosa)` tēnei. Tērā pea ka kite tō tamaiti i tēnei ngaronga o te tirohanga pō i a rātou e taiohi ana, tata ki te tekau mā toru, tekau mā whā rānei ōna tau. Kāore rānei e whakaatu i tētahi tohu tae noa ki te pakeketanga. I a rātou e pakeke haere ana, ka taea e tēnei mate `(Retinitis pigmentosa)` te ngaronga o te tirohanga taha , ā, i te mutunga ka arahi ki te matapo katoa.

Ko ētahi atu tohu o te Refsum pakeke ko:

• Te ngaronga o te kakara (`(Anosmia)`)
• Te ngoikore, te wera rānei o ngā peka
• Te ngaronga o te rongo
• Ngā take taurite
• Te ichthyosis (ngā wahi taratara, unahi i runga i te kiri)
• Te tirohanga pōuri, me te mea kei te puta he katarata i roto i ngā kanohi (`(Katararata)`)
• Te mate ngakau kino, hei tauira, te ngakau pākiki (arrhythmia) te ngoikore rānei o te ngakau (ngoikore o te ngakau)

He aha ngā raruraru o te mate Refsum?

He tino kino te mate refsum i roto i ngā pēpi, ā, he tino ngoikore hoki . He nui ngā raruraru o ngā tamariki ki te kai, ki te haurangi, ki te tirohanga me te whakarongo. Ka poto ake te roa o ō rātou oranga nā ngā raruraru manawa.

I roto i te Refsum pakeke, ka kino haere tō tirohanga i te roanga o te wā. Ka piki haere hoki te ngoikore, te ngaronga o te rongo, me ngā raruraru taurite. I ētahi wā, i te wā e pāngia ana koe e te ahotea tinana, pērā i te wā e pāngia ana koe e te mate nui, e te pokanga rānei , ka tino teitei ake ngā taumata o te `(Phytanic acid)` i kōrerotia e au. Kātahi ka kore e taurite te ngakau, ka tino ngoikore rānei. Ki te kore e rongoatia, ka taea e ēnei koretake o te manawa ngakau (`(Arrhythmias)`) te whakararu i te ora.

He aha ngā take o te mate Refsum?

Ko te mate refsum ka puta mai i tētahi panonitanga (whakarerekētanga) o tētahi ira kei a koe i te whānautanga. Ka taea e koe te whiwhi i tēnei whakarerekētanga mai i tō whaea, i tō pāpā, i ngā mea e rua rānei.

Neke atu i te tekau mā rua ngā ira ka puta ai te Refsum pēpi. O ēnei, ko ngā mea tino kitea ko `(PEX1)` (tata ki te 60%), `(PEX6)` (tata ki te 15%), `(PEX12)` (tata ki te 7.6%) me `(PEX26)` (tata ki te 4.2%).

Ko te mate Refsum pakeke ka puta mai i tētahi whakarerekētanga ira e kitea ana i te whānautanga, ā, ka tukuna iho i roto i ngā whakatipuranga. Tata ki te iwa i roto i te tekau o ngā tāngata e pāngia ana e te mate Refsum pakeke he whakarerekētanga ira kei roto i te ira `(PHYH)`. Ko te nuinga o ētahi atu he whakarerekētanga ira kei roto i te ira `(PEX7)`.

Whakaarohia he rite ki tētahi wheketere iti i roto i tō tātou tinana e pakaru ai tētahi mīhini nui. Ka puta ngā raruraru pēnei ina kore e mahi tika ngā mīhini e kiia nei ko ngā ira.

Me pēhea te tautuhi i te mate Refsum?

He rerekē ngā whakamātautau a ngā tākuta hei tātaritanga i te mate Refsum, i runga i tō tau. Tērā pea ka whakahaerehia e rātou he whakamātautau ira hei rapu i ngā whakarerekētanga ira e puta ai te mate Refsum.

• Mō te Refsum pēpi: Ko ngā whakamātautau e tino kitea ana ko te ine i ngā waikawa ngako mekameka roa rawa (`(ngā waikawa ngako mekameka roa rawa)`), te waikawa phytanic (`(waikawa phytanic)`), me te waikawa pristanic (`(waikawa pristanic)`).
• Mō te Refsum pakeke: Tērā pea ka tangohia e tō tākuta he tauira toto ka whakamātautau i ō taumata '(Phytanic acid)'.

Me pēhea te rongoā i te mate Refsum?

Te maimoatanga mo te Refsum Infantile

Mena kei te pāngia tō tamaiti e te mate Refsum pēpi, ka whakatauhia e te tākuta te maimoatanga i runga i ngā tohu o te tamaiti. Tērā pea kei roto i tēnei ko ngā mea pēnei i:

• Whāngai ngongo
• Te tango i te katarata (`(Te tango i te katarata)`)
• Ngā mōhiti
• Ngā taputapu whakarongo (`(Ngā taputapu whakarongo)`)
• Ngā huaora
• Ngā rongoā ārai-hopu
• Ngā momo whakaora me ngā ratonga wawaotanga wawe mō ngā whakaroa whanaketanga ("(ngā whakaora/ngā ratonga wawaotanga wawe)")

Te Maimoatanga mō te Refsum Pakeke

I te rongoā i te mate Refsum pakeke, me whakawhāiti pea koe i ngā kai e whakanui ana i te taumata o te waikawa phytanic i roto i tō tinana. Hei tauira:

• Pīhi me te reme
• Ngā hua miraka
• Ngā ika hinuhinu, pērā i te kōti, te tuna, te hatdock rānei.

Tērā pea ka hiahia ētahi tāngata ki tētahi maimoatanga e kiia nei ko te "Plasmapheresis" hei whakahaere i te kohikohinga o te "waikawa Phytanic". I roto i te "Plasmapheresis", ka tangohia e te tākuta ētahi o ō toto, ka tātari i te "waikawa Phytanic" taikaha, kātahi ka whakahokia atu taua toto ki a koe. Ahakoa he maimoatanga uaua tēnei, he tino whai hua mō ētahi tāngata.

Me rongoā te mate manawa mō te mate Refsum?

Mō ngā pakeke e pāngia ana e te mate Refsum, ki te puta whakarere mai he ngakau pākiki, me rongoā pea koe hei whakahaere i te tere o tō ngakau. Kei roto pea i tēnei:

• Ngā momo rongoā:Ko ngā rongoā pēnei i te `(Beta-blockers)`, `(Calcium channel blockers)`, `(Anticoagulants)` rānei e whakaiti ana i te toto totoka, ka hoatu hei whakahaere i te tere o te ngakau, hei whakaiti rānei i te mōrearea o te whiu.
• Te Whakarerenga o te Kāti: Ko te tuku i tētahi ru hiko kua whakahaeretia hei whakahoki mai i te āhua noa o te manawa o te ngakau.
• Pūrere whakamātao ngakau tāpiri (ICD): He taputapu tēnei e tāpirihia ana ki raro i tō kiri. Ka aroturukihia, ka whakahaeretia hoki tō manawa.
• Te tango i te catheter: He tikanga iti noa te whakaekenga tēnei e uru ana ki te pakaru ā-tūpono i te kiko o te ngākau mate hei whakakore i te pao o te ngakau.

He aha ngā mea ka taea e te tangata whai mate Refsum te tumanako atu?

Ko ngā tamariki e pāngia ana e te mate Refsum pēpi he tino whakaroa i te whanaketanga, ā, me nui te wawaotanga hauora. Heoi, ahakoa te tiaki pai rawa atu, ko te kaha me te āhua o te mate ka whakapoto i te roanga o te oranga o ēnei tamariki.

He maha ngā tāngata e pāngia ana e te Refsum pakeke ka angitu ki te whakahaere i ō rātou tohu mā te whakawhāiti i ngā kai he nui te `(Phytanic acid)`. Mā te maimoatanga, ka ngaro ngā tohu pēnei i te kiri maroke me te māuiui. Heoi, me noho pea koe me ngā raruraru tirohanga, rongo rānei mō te wā roa. Tērā pea ētahi tāngata kāore e hoki mai anō ō rātou kakara ngaro.

Me pēhea te whakaiti i te mōrearea o te mate Refsum?

Nā te mea he mate ira te mate Refsum, kāore he huarahi hei ārai i tēnei.

Mena kei a koe te mate Refsum, ki te whakaaro rānei koe he kawe koe i te mate, me whakaaro pea koe ki te whakamātautau ira. Ka taea e te whakamātautau ira te tautuhi i te whakarerekētanga ira e puta ai te mate Refsum. Ka taea e te kaitohutohu ira te āwhina i a koe ki te mārama ki ngā hua o te whakamātautau me te whakamārama i te tūponotanga ka riro i āu tamariki te mate ira.

He aha taku e pātai atu ai ki taku tākuta?

Mena kei a koe te mate Refsum, kei te whakaaro rānei koe kei a koe, ka taea e koe te pātai atu ki tō tākuta i ēnei pātai:

• He aha ngā tohu tuatahi o te mate Refsum?
• He aha ngā whakamātautau e whakamahia ana hei tautuhi i te mate Refsum?
• He aha ngā kōwhiringa maimoatanga mō te mate Refsum?
• Me whiwhi whakamātautau ira ahau mō te mate Refsum?
• He aha ngā tūponotanga ka riro mai i taku tamaiti te mate Refsum?

He mea noa te mataku ina rongo koe he mate ira onge tōu, tō tamaiti rānei. Heoi, ko te kimi i tētahi tātaritanga te taahiraa tuatahi ki te mārama ki te āhua o te mate.

Hei whakarāpopototanga (Karere hei tango ki te kāinga)

He mate onge, he mate uaua hoki te mate Refsum. Heoi, mā te tātaritanga tika me te maimoatanga tere,Mā te maimoatanga, inā koa i te mate Refsum pakeke, ka taea te whakahaere i ngā tohu me te noho ora pai. Ahakoa he uaua ake te āhua o te pēpi Refsum, he mea tino nui kia whakaratohia te tamaiti ki te manaaki me te tautoko tino nui e hiahiatia ana e rātou.

Mena he pātai anō āu mō tēnei, ki te whakapae rānei koe kei te pāngia tētahi o tō whānau e ēnei tohu, kaua e mangere ki te rapu tohutohu hauora. He āwhina nui anō hoki te whakauru atu ki ngā rōpū tautoko e āwhina ana i te hunga e pāngia ana e ēnei mate onge me ō rātou whānau. Ahakoa he rerekē ngā wheako o te katoa, mā te kōrero ki ētahi atu ka āwhina i a koe kia kaua e noho mokemoke.

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