Adrenoleukodystrophy

Ko te Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) he momo mate tuku iho (tūturu) e whakarawe ana i te kirikiri (myelin sheath) e hipoki ana i ngā pūtau io i roto i tō roro.

I te adrenoleukodystrophy (ALD), kāore e taea e tō tinana te wawahi i ngā ngota momona roa-raupapa (VLCFAs), e puea ai ngā VLCFAs kua makona ki roto i tō roro, pūnaha io me te whekau adrenal.

Ko te momo ALD tino noa ko te X-linked ALD, nāna te ngoikoretanga tūturu i runga i te karōme X. Ka pā atu te X-linked ALD ki ngā tane nui atu i ngā wāhine, e mau ana i te mate.

Ko ētahi momo o te X-linked ALD:

• ALD timatanga tamariki. Ko tēnei momo X-linked ALD te nuinga o te wā ka puta i waenga i ngā tau 4 me te 10. Ka pakaru haere te pūtake ma o te roro (leukodystrophy), ā, ka kaha ake ngā tohu i te wā. Ki te kore e whakamātauhia i te wā, ka taea e te ALD timatanga tamariki te arahi ki te mate i roto i ngā tau rima ki te tekau.
• Te mate a Addison. Ko ngā whekau whakaputa homoni (whekau adrenal) te nuinga o te wā ka kore e whakaputa i ngā steroids nui (adrenal insufficiency) i roto i te hunga he ALD, e puea ai tētahi momo X-linked ALD e kiia nei ko te mate a Addison.
• Adrenomyeloneuropathy. Ko tēnei momo X-linked ALD timatanga pakeke he momo iti ake te kino me te haere puāwai haere māmā e puea ai ngā tohu pērā i te hikoi pakari me te mahi kore o te pūkahukahu me te whekau. Ka taea e ngā wāhine e mau ana i te ALD te whanake i tētahi momo adrenomyeloneuropathy māmā.

Kaore he uauatanga

Kaore he uauatanga

Kaore he uauatanga

Kaore he uauatanga

Kaore he uauatanga

Kaore he uauatanga

Hei whakatau i te ALD, ka arotake to taakuta i ō tohu me ō hītori hauora me ngā hītori hauora whānau. Ka whakahaere to taakuta i te whakamātau tinana ka tono i ētahi whakamātau, tae atu ki:

• MRI. Ka hangaia e ngā maheni kaha me ngā ngaru reo ngā whakaahua taipitopito o tō roro i roto i te tātai MRI. Ka taea ai e ngā tākuta te kite i ngā rerekētanga i roto i tō roro e taea ai te tohu i te adrenoleukodystrophy, tae atu ki te pakaru o te kiko io (te mea ma) o tō roro. Ka taea e ngā tākuta te whakamahi i ngā momo MRI maha hei tiro i ngā whakaahua tino taipitopito o tō roro me te kite i ngā tohu o te leukodystrophy i te tīmatanga.
• Te tirotiro i te tirohanga. Ko te ine i ngā whakautu tirohanga ka aroturuki i te whanaketanga o te mate i roto i ngā tane kahore hoki atu ētahi tohu.
• Te tātaritanga kiri me te whakatipu pūtau fibroblast. Ka tangohia pea tētahi tauira iti o te kiri hei tirotiro i ngā taumata nui o te VLCFA i ētahi wā.

Te whakamātau toto. Ka tirotirohia e ēnei whakamātau ngā taumata teitei o ngā waikawa ngako roa-rengarenga (VLCFAs) i roto i tō toto, koinei tētahi tohu matua o te adrenoleukodystrophy.

Ka whakamahi ngā tākuta i ngā tauira toto mō te whakamātau ira ki te tautuhi i ngā hapa, i ngā rerekētanga rānei e pā ana ki te ALD. Ka whakamahi anō ngā tākuta i ngā whakamātau toto hei aromatawai i te pai o te mahi a ō whatukuhu adrenal.

Kāore he rongoā mō te adrenoleukodystrophy. Heoi, ka taea e te whakawhiti pūtau taketake te aukati i te whanake o te ALD mena ka mahia i te wā e puta mai ana ngā tohu neurological. Ka aro te hunga rongoā ki te whakaora i ō tohu me te whakaheke i te whanake o te mate.

Ko ētahi atu whiringa rongoā pea:

• Whakawhiti pūtau taketake. He whiringa pea tēnei hei whakaheke, hei aukati rānei i te whanake o te adrenoleukodystrophy i ngā tamariki mena ka kitea te ALD, ka tukatuka hoki i te wā. Ka taea te tango i ngā pūtau taketake mai i te wheua wheua mā te whakawhiti wheua wheua.
• Te rongoā mō te ngoikore o te adrenal. He tokomaha ngā tāngata he ALD kei a rātou e whanake ana i te ngoikore o te adrenal, me te hiahia kia whakamātauhia tonu te pūngao adrenal. Ka taea te whakaora pai te ngoikore o te adrenal mā ngā steroids (te rongoā whakakapi corticosteroid).
• Rongoā. Ka taea e tō tākuta te whakahau i ngā rongoā hei āwhina i te whakaora i ngā tohu, tae atu ki te ngoikore me ngā hopu.
• Whakaora tinana. Ka taea e te whakaora tinana te āwhina i te whakaora i ngā uaua uaua me te whakaiti i te uaua o ngā uaua. Ka taea e tō tākuta te tūtohutia ngā wīra me ētahi atu taputapu nekehanga mena ka hiahiatia.

I roto i tētahi whakamātautau hauora hou, i tukatuka ngā tamaiti he ALD roro i te tīmatanga ki te rongoā ira hei whakakapi mō te whakawhiti pūtau taketake. He whakatenatena ngā hua tīmatanga mai i te rongoā ira. I pumau te whanake o te mate i te 88 ōrau o ngā tamaiti i uru ki te whakamātautau. He mea tika kia mahi atu ngā rangahau hei aromatawai i ngā hua roa me te haumaru o te rongoā ira mō te ALD roro.

Kaore he uauatanga