Loaʻa i kāu keiki kēia mau hōʻailona? E aʻo kākou e pili ana i ka ALD (Adrenoleukodystrophy)

Ua lohe paha ʻoe i kahi maʻi i kapa ʻia ʻo ALD (Adrenoleukodystrophy)? He mea paʻakikī paha ke kani ʻana o ka inoa. Akā e mālama kākou i ka maʻalahi. He maʻi genetic ia, ʻo ia hoʻi he mea ia a mākou e hoʻoilina ai mai ko mākou mau mākua mai. Hoʻopilikia kūikawā ia i kā mākou ʻōnaehana nerve a me nā kelepa adrenal. I kekahi manawa, hiki ke hele pū kēia mau hōʻailona me nā loli ʻano a me nā pilikia aʻo ʻana i nā keiki ʻōpio.

He aha ka ALD (Adrenoleukodystrophy)? E hoʻomaopopo maʻalahi kākou.

ʻAe, e nānā mua kākou i ke ʻano o ka ALD. He maʻi laha ʻole ka ALD no kahi hui o nā maʻi genetic . Ua kapa ʻia kēia hui ʻo "Leukodystrophies." I ka ʻōlelo maʻalahi, ua hoʻokumu ʻia kēia mau maʻi e kahi loli, a i ʻole mutation, i loko o nā genes o ko mākou kino, ʻo ia hoʻi, ko mākou "DNA." Ua like ko mākou "DNA" me kahi hoʻonohonoho o nā kuhikuhi no ke ʻano o ka hana ʻana o ko mākou kino.

He maʻi holomua ka ALD, ʻo ia hoʻi e lilo mālie ana ia i mea ʻino . No laila, ʻo ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻolohi i ka holomua o ka maʻi a hāʻawi i nā mea maʻi i kahi ola maikaʻi aʻe.

He aha ka mea e hana ʻia i ke kino me ALD?

I loko o ke kanaka me ALD, ʻaʻole hiki i ke kino ke wāwahi pono i kekahi mau ʻano momona, ʻoiai ʻo Very-Long-Chain Fatty Acids (VLCFAs). Ua like kēia me ka ʻōpala i loko o ko mākou hale i hiki ʻole ke wehe ʻia. No laila, hoʻomaka kēia mau VLCFA e hōʻiliʻili i loko o ka lolo, ka ʻōnaehana nerve, a me ka adrenal cortex, ʻo ia ka ʻaoʻao waho loa o ka adrenal gland.

ʻAʻole maopopo loa i nā kānaka ʻepekema ka mea e hana maoli ana i ke kino ke hōʻiliʻili ʻia kēia mau "VLCFA". Akā, hōʻike ka noiʻi e hoʻoulu kēia hōʻiliʻili ʻana i ka mumū a hōʻino i ka uhi pale a puni nā hunaola nerve i loko o ko kākou lolo, i kapa ʻia ʻo ka "myelin sheath" .

E noʻonoʻo e like me ka ʻūpā palakiko e hoʻopuni ana i kahi uea. Ke nalowale, ʻaʻole hana pono ka uea. Pēlā nō, ke hōʻino ʻia ka ʻūpā myelin, ʻaʻole hiki i nā hunaola nerve ke hoʻouna i nā leka mai ka lolo i ke koena o ke kino. Hiki i kēia ke hoʻopilikia i nā hana kino he nui, e like me ka hele wāwae a me ka noʻonoʻo ʻana.

Hoʻopōʻino pū ʻo ALD i nā kelepa adrenal, hiki ke alakaʻi i ka emi ʻana o kekahi mau hormones i loko o ke kino. Aia kēia mau kelepa adrenal ma luna o ko kākou mau puʻupaʻa. Hoʻopuka lākou i nā hormones e hoʻopilikia i nā ʻano kāne a me nā wahine a me nā hormones e pane ana i ke kaumaha.

Pehea i hoʻoilina ʻia ai ʻo ALD?

No ka mea, he maʻi hoʻoilina ʻo ALD, hiki ke hoʻoilina ʻia mai kekahi a i ʻole nā ​​mākua ʻelua. Hoʻokumu ʻia ia e kahi pilikia me ka chromosome X , i kapa ʻia i kekahi manawa ʻo X-linked ALD.

Pehea ka maʻamau o ALD?

He maʻi laha ʻole kēia.Ma ka honua holoʻokoʻa, hoʻopilikia ka maʻi i hoʻokahi i loko o 15,000 mau kānaka. ʻOi aku ka maʻamau i nā kāne ma mua o nā wahine.

He aha ke kumu o ALD?

ʻO ke kumu nui o ALD he mutation i loko o kahi gene kikoʻī. Ua like ko mākou mau genes me kahi hoʻonohonoho o nā kuhikuhi no ka hana ʻana i nā protein e pono ai ke kino e hana. Ke mutation kahi gene, hiki iā ia ke hana i ke ʻano protein kūpono ʻole.

I loko o ALD, aia ka pilikia ma ka gene i kapa ʻia ʻo `(ABCD1)`. Hoʻopuka kēia gene i kahi protein i kapa ʻia ʻo `(ALDP)`. ʻO kēia protein ka mea e kōkua ai i ka wāwahi ʻana i nā `(VLCFAs)` a mākou i kamaʻilio ai ma mua. No laila, no ka mea ʻaʻole i hana pono ʻia kēia protein, hōʻiliʻili nā `(VLCFAs)` i loko o nā ʻiʻo o ke kino.

He aha nā ʻano like ʻole o ALD?

Aia kekahi mau ʻano nui o ALD:

• ʻO ka ALD lolo o ke kamaliʻi: Hoʻomaka pinepine nā keikikāne me kēia ʻano e hōʻike i nā hōʻailona o ka ʻōnaehana nerve ma waena o nā makahiki 3 a me 10. ʻO ka mea kupanaha, ulu maʻamau kēia mau keiki i ka wā kamaliʻi. A laila, hoʻomaka mālie ko lākou hiki e emi. Hōʻike pinepine lākou i nā pilikia ʻano, e like me ka paʻakikī i ka noʻonoʻo ʻana i ke kula. Hiki ke loaʻa nā hopu . Hiki i ke keiki ke make i loko o kekahi mau makahiki o ka hoʻomaka ʻana o kēia mau hōʻailona.
• ʻO ka maʻi ʻo Addison me ALD: Me nā hōʻailona o ka ʻōnaehana nerve, hiki i ka ALD ke hoʻōki i ka hana pono ʻana o nā kelepa adrenal. Ua kapa ʻia kēia ʻo ka maʻi ʻo Addison . Ma kēia kūlana, ʻaʻole hana kāu mau kelepa adrenal i ka nui o ka hormone cortisol . ʻO nā hōʻailona e komo pū me ka nalowale o ka makemake a me ka nāwaliwali o nā ʻiʻo.
• ʻO Adrenomyeloneuropathy (AMN) a i ʻole ALD hoʻomaka pākeke: He ʻano ʻoluʻolu kēia o ka ALD. Hoʻomaka pinepine ia ma waena o 21 a me 35 mau makahiki. Loaʻa i ka poʻe me AMN nā pilikia me nā kelepa adrenal a me ka ʻōnaehana nerve. ʻAʻole e ʻoi aku ka ʻino o ka ALD hoʻomaka pākeke e like me ka ALD kamaliʻi, akā hiki nō hoʻi iā ia ke hoʻemi i ka hana o ka lolo i nā pākeke. ʻO nā hōʻailona e komo pū me ka ʻeha o nā wāwae a me ka ʻeha ma nā lālā.

Ma waho aʻe o kēia, aia kekahi mau ʻano ALD ʻē aʻe i maʻamau ʻole ʻia:

• ʻO ka ALD lawa ʻole o ka adrenal: Hiki i kekahi poʻe ke hoʻomohala i ka maʻi ʻo Addison wale nō, me ka ʻole o nā pilikia me ka ʻōnaehana nerve. Ma kahi o hoʻokahi i loko o ka ʻumi poʻe me ALD i loaʻa i kēia ʻano.
• ʻALD lolo makua: Ma kahi o ka hapakolu o nā kāne makua me ka maʻi e loaʻa nā pilikia noʻonoʻo e like me nā pilikia lolo o ke keiki.I ka hala ʻana o ka manawa, e hōʻino nui ʻia ko lākou hana noʻonoʻo a me ka hana neurological. He nui nā pākeke me kēia ʻano e make ana i ka maʻi.
• Nā wahine me ALD: Ma kahi o hoʻokahi o ʻelima mau wahine me ALD e loaʻa nā hōʻailona i ka hiki ʻana i ka makahiki 40. I ka hiki ʻana i ka makahiki 60, loaʻa iā 90% nā hōʻailona. Eia nō naʻe, he ʻoluʻolu nā hōʻailona. No ka laʻana, aia paha he nāwaliwali iki a me ka ʻoʻoleʻa i nā wāwae.

I ka manawa hea e ʻike ʻia ai nā hōʻailona ALD?

Hoʻomaka pinepine nā hōʻailona o ka ALD ma waena o nā makahiki 3 a me 10. Eia nō naʻe, hiki iā lākou ke hoʻomaka ma hope o ke ola. ʻO ke ʻano o ka ALD i ka wā kamaliʻi ka mea koʻikoʻi loa.

He aha nā hōʻailona maʻamau o ALD?

Loaʻa i kēlā me kēia ʻano ALD kāna mau hōʻailona ponoʻī. ʻIke pinepine ʻia nā hōʻailona neurological a me nā hormonal.

Nā hōʻailona o ka ALD lolo o ke keiki:

Nā hōʻailona i ʻike ʻia i ka wā mua:

• Nā pilikia pili i ka hana: No ka laʻana, ka Attention Deficit Hyperactivity Disorder (ADHD) a me nā pilikia aʻo.
• Nā hemahema noʻonoʻo: He mau pilikia kēia i ka noʻonoʻo ʻana a me ka hoʻomaopopo ʻana i ka ʻike hou. Manaʻo paha nā keiki ua "nalowale i loko o kahi honua moeʻuhane" ma ke kula. Loaʻa paha iā lākou ka pilikia i ka heluhelu ʻana, ke kākau ʻana, a me ka hoʻoponopono ʻana i nā pilikia ākea.
• Ka Hoʻi Mua: ʻO ke ʻano kēia, ua nalowale nā ​​​​keiki i ko lākou mau hiki ma mua.

I ka holomua ʻana o ka maʻi, hiki iā ʻoe ke ʻike i nā hōʻailona e like me:

• Nā pilikia ʻike
• Ka hemahema o ka lohe
• Paʻakikī ka hele wāwae
• Ka nāwaliwali a me ka paʻakikī o nā lālā
• Nā ʻōhūhū a me nā hopu ʻana
• Dementia
• Paʻakikī i ka ʻai ʻana
• Ka luaʻi ʻana

I ka hopena, nalowale nā ​​​​keiki i nā hana he nui o kā lākou ʻōnaehana nerve. Ua nalowale lākou i ka ʻike, ka lohe, a me ka neʻe manawaleʻa. I ka holomua ʻana o ka maʻi, komo nā keiki i kahi 'kūlana vegetative.' Make pinepine nā keiki i loko o ʻelua a ʻekolu mau makahiki o ka hoʻomaka ʻana o nā hōʻailona neurological.

Nā hōʻailona o ka maʻi ʻo Addison:

Nā hōʻailona o ka emi ʻana o ka hana adrenal:

• Luhi
• Ka emi ʻana o ke kaumaha
• Ka luaʻi a me ka luaʻi
• Nā pilikia hoʻoheheʻe
• Manaʻo nāwaliwali
• ʻEha poʻo i ke kakahiaka
• Ke koko haʻahaʻa (Hypotension)
• Nā pae kō koko haʻahaʻa (Hypoglycemia)
• ʻEleʻele o ka ʻili me ka ʻole o ka lā (ʻIli Hyperpigmented)

Nā hōʻailona o ka adrenomyeloneuropathy (AMN):

ʻO kēia mau mea:

• Ka spasticity, nāwaliwali, a i ʻole ka lolo o nā ʻiʻo ma nā lālā haʻahaʻa.
• ʻO Ataxia kahi maʻi neurological e hoʻopilikia ai i ka neʻe ʻana.
• ʻO ka mae a me ka ʻeha.
• Ka hana ʻino o ka erectile.
• ʻAʻole hiki ke kāohi i ka neʻe ʻana o ka ʻōpū (bowel incontinence).
• Ka paʻakikī o ka kaohi ʻana i ka mimi.
• ʻOhule ma muli o ka ʻelemakule mua.

No ke aha i ʻokoʻa ai ka hopena o ALD i nā kāne a me nā wahine?

He maʻi hoʻoilina X-linked ʻo ALD, ʻo ia hoʻi ke kumu o kahi gene mutated ma ka chromosome X.

ʻElua mau chromosome X a nā wahine. Hiki iā lākou ke lilo i mea lawe i kēia maʻi. ʻO ka maʻamau, hoʻokahi chromosome X "hana ʻole." ʻO ke ʻano kēia, ʻaʻole hana nā genes ma kēlā chromosome.

ʻO ka hapa nui o ka manawa, ʻaʻole hōʻike nā wāhine i nā hōʻailona no ka mea aia ka gene mutated ma ka chromosome X "inactive". ʻO nā wāhine e hōʻike ana i nā hōʻailona e hoʻomohala pinepine i kahi ʻano ʻoi aku ka ʻino e ʻike ʻia i ka wā makua.

Hoʻokahi wale nō chromosome X a nā kāne. ʻOiai ʻaʻohe pale mai kahi chromosome X keu, hiki i ka chromosome X i loli ke kumu o ka ʻino o ka ALD i nā kāne.

I ka manawa hea e ʻike ʻia ai ʻo ALD?

Ua ʻike ʻia kekahi mau pēpē i ka wā hānau i ka wā o ka nānā ʻana i nā keiki hānau hou . Nānā kēia mau hoʻokolohua no kekahi mau maʻi. Ma kekahi mau ʻāina, hoʻāʻo ʻia nā pēpē hānau hou no ALD i ka wā o kēia mau nānā ʻana ma ka haukapila. Akā ʻo ka hapa nui, kānalua wale nā ​​​​mākua a i ʻole nā ​​​​kauka ke ʻike lākou i nā hōʻailona i nā makahiki mua o ke keiki.

ʻO ka poʻe me ke ʻano hoʻomaka pākeke e ʻike wale ʻia ka maʻi ma hope o ka ʻike ʻana i ke kauka ma muli o nā hōʻailona.

ʻO wai ka mea e pono e hoʻāʻo ʻia no ALD?

Pono nā mākua a me nā kauka e kānalua iā ALD ma kēia mau hihia:

• Inā he mau hōʻailona o kahi maʻi ʻōnaehana nerve kekahi keikikāne me ADD a ADHD paha.
• Inā he pilikia ko kekahi kanaka ʻōpio i ka hele ʻana a i ʻole ka neʻe ʻana, a ke lilo mālie nei kēlā mau pilikia i mea ʻino.
• Hiki i ke kāne o kēlā me kēia makahiki ke loaʻa i ka maʻi ʻo Addison, ʻoiai inā ʻaʻohe ona hōʻailona a pilikia paha.
• Inā e hoʻomohala mālie ana kahi wahine ʻelemakule i ka nāwaliwali o nā ʻiʻo.

Pehea e ʻike ʻia ai ka ALD?

E nānā hou nā kauka i ka mōʻaukala olakino o kāu keiki a me ka mōʻaukala olakino ʻohana. Inā kānalua ʻia ʻo ALD, hiki i kāu keiki ke loaʻa nā hoʻokolohua e like me:

• Hoʻāʻo koko e ana i ka pae o `(VLCFA)` i loko o ke koko.
• He hoʻāʻo genetic e nānā i nā loli genetic e pili ana me ALD a i ʻole nā ​​​​kūlana ʻē aʻe.
• E hoʻāʻo i ka hana o nā kelepa adrenal me kahi hoʻāʻo hoʻoulu hormone adrenocorticotropic (hoʻāʻo hoʻoulu ACTH).
• Hana ʻia kahi scan MRI e ʻike ai pehea i hoʻopilikia ai ʻo ALD i ka lolo.

Inā hōʻoia ka hoʻāʻo genetic ua loaʻa iā ʻoe ʻo ALD, hiki i kāu kauka ke ʻōlelo aku e hana pū nā lālā ʻē aʻe o ka ʻohana i ka hoʻāʻo genetic.

He aha nā lāʻau lapaʻau no ALD?

ʻAʻohe lāʻau lapaʻau no ALD i kēia manawa. Ke kālele nei ka lāʻau lapaʻau i ka hoʻolohi ʻana i ka holomua o ka maʻi a me ka kaohi ʻana i nā hōʻailona.

Aia nā koho lapaʻau i ke ʻano o ka ALD a me nā hōʻailona. Hiki i kēia mau mea ke komo pū me:

• Lapaʻau hormone adrenal: Pono ka poʻe me ALD e nānā pinepine ʻia ko lākou mau kelepa adrenal. Hiki i ka lāʻau lapaʻau pani Corticosteroid ke mālama i ka lawa ʻole o ka adrenal.
• Hoʻoili ʻana i nā pūnaewele kumu: ʻO kēia wale nō ka lāʻau lapaʻau e hiki ke hoʻolohi i ka holomua o ka ALD i nā keiki. Inā ʻike mua ʻia ka maʻi, hiki i kēia hoʻoili ke hoʻōki i ka maʻi. Inā hōʻike kahi scan MRI ua hoʻopilikia ka ALD i ka lolo, akā ʻaʻole hōʻike ke keiki i nā hōʻailona maopopo ma kahi hoʻokolohua neurological, hiki i nā kauka ke paipai i kahi hoʻoili ʻana i nā pūnaewele kumu.
• Nā lāʻau lapaʻau: Hiki i nā kauka ke kuhikuhi i nā lāʻau lapaʻau e kōkua i nā hōʻailona e like me ka haʻalulu a i ʻole ka ʻoʻoleʻa o nā ʻiʻo.

Nā lāʻau lapaʻau kākoʻo ʻē aʻe:

• Hoʻōla kino.
• Kākoʻo noʻonoʻo.
• Hoʻonaʻauao kūikawā.

Nā lāʻau lapaʻau i hoʻokumu ʻia ma ka noiʻi:

• Lapaʻau Gene: Hiki i kēia ke pani i kahi gene kīnā me kahi gene e hana maʻamau.
• ʻAila a Lorenzo: He hui kēia o ka waikawa oleic a me ka waikawa erucic. Ua ʻōlelo ʻia e hōʻemi i nā pae o VLCFA i loko o ke koko. Inā hāʻawi ʻia i nā keiki ma mua o ka ʻike ʻia ʻana o nā hōʻailona, ​​​​hiki iā ia ke hoʻopaneʻe a hoʻolohi paha i ka hoʻomaka ʻana o nā hōʻailona.

He aha ka wā e hiki mai ana o nā keiki me ALD?

ʻO ka wānana no ke kanaka me ALD e pili ana i ke ʻano o ka maʻi. ʻO ka wānana no nā keiki me ka cerebral X-ALD he maikaʻi ʻole ia. Inā ʻaʻole i ʻike mua ʻia ka maʻi a hana ʻia ka hoʻoili ʻana i nā cell stem, e hōʻino ana kā lākou hana neurological. I ka hapanui o nā hihia, make nā keiki i loko o kekahi mau makahiki o ka hoʻomaka ʻana o nā hōʻailona.

No nā poʻe me ka hoʻomaka ʻana o ke kanaka makua (AMN), hiki i ka maʻi ke holomua mālie i nā makahiki he ʻumi.

Hiki ke pale ʻia ʻo ALD?

ʻAʻohe ala i ʻike ʻia i kēia manawa e pale aku ai i ka ALD. Inā loaʻa i kekahi o kou ʻohana ka ALD, e ʻimi i ka hoʻāʻo genetic a me ke aʻo ʻana e like me ka ʻōlelo a kāu kauka.

Pehea e mālama ai au i kaʻu keiki me ALD?

ʻO ke komo mua ʻana e hāʻawi i ka manawa kūpono loa no ka mālama ʻana i ka holomua. Inā ʻike ʻoe i kekahi mau loli i ke ʻano o kāu keiki a i ʻole nā ​​​​mana noʻonoʻo, e kamaʻilio koke me kāu kauka. Eia kekahi, inā e nalowale ana kāu keiki i nā mākau i loaʻa iā lākou ma mua, e haʻi i kāu kauka e pili ana i kēia.

Pono ka hui mālama o kāu keiki e komo pū me:

• Kauka lapaʻau keiki.
• ʻO ka neurologist pediatric a me nā mākua.
• Kauka ʻUlū.
• Kauka lapaʻau endocrine.
• Kauka noʻonoʻo.
• Luna hoʻōla kino.
• Kākā'ōlelo hoʻoilina.
• Nā loea ʻē aʻe e like me ka mea e pono ai.

He aha kaʻu e nīnau aku ai i kaʻu kauka e pili ana iā ALD?

Inā ʻike ʻia kāu keiki me ALD, e nīnau i kāu kauka e pili ana i kēia mau mea:

• Hiki i kaʻu keiki ke loaʻa i kahi hoʻoili cell kumu?
• Pono anei kaʻu keiki i ka lāʻau steroid?
• Pehea lā ka wā e hiki mai ana o kaʻu keiki?
• He aha hou aʻe kā mākou e hana ai e hōʻemi i nā hōʻailona o kaʻu keiki?
• Pono anei nā lālā ʻē aʻe o ka ʻohana e hana i ka hoʻāʻo genetic?
• Aia kekahi mau hoʻokolohua lapaʻau e hiki i kaʻu keiki ke komo?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

He maʻi hoʻoilina ka ALD e hoʻopilikia ana i ka ʻōnaehana nerve a me nā kelepa adrenal. Hoʻomaka pinepine nā hōʻailona i ka wā kamaliʻi. Inā nalowale nā ​​​​keiki i ko lākou mau hiki mua a hōʻike paha i nā loli i ke ʻano, e ʻimi koke i ke kōkua lapaʻau. ʻO ka wikiwiki o ka hoʻomaka ʻana o ka mālama ʻana no ALD, ʻo ka nui o ka lohi o ka holomua o ka maʻi. Aia kekahi mau lāʻau lapaʻau no ALD, me nā hoʻoili cell stem, nā lāʻau lapaʻau, a me ka mālama kākoʻo. E kamaʻilio kāu hui lapaʻau me ʻoe e pili ana i ke kūlana kikoʻī o kāu keiki a me ka wā e hiki mai ana. Mai hopohopo, he mea nui e loaʻa ka ʻike kūpono a hahai i ka ʻōlelo aʻo a kāu kauka.

ʻALD , Adrenoleukodystrophy, Nā Maʻi Genetic, Nā Maʻi Neurological, Pediatrics, Hormones, VLCFA