Ke hōʻiliʻili nei nā mea ʻawahia i loko o kāu mau cell? E pili ana kēia i nā maʻi mālama Lysosomal!

Ua lohe paha ʻoe i nā maʻi mālama Lysosomal, a i ʻole LSD? He mea kākaʻikahi loa kēia, ʻo ia hoʻi, ʻaʻole loaʻa i ka hapa nui o ka poʻe iā lākou, nā kūlana genetic. I ka ʻōlelo maʻalahi, hoʻoulu kēia mau maʻi i nā mea makemake ʻole ʻia, hiki ke ʻawahia e hōʻiliʻili i loko o nā cell o ko kākou kino. E kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku i kēia lā, ʻeā?

He aha nā enzymes a me nā lysosomes? Pehea lākou e hana ai?

E noʻonoʻo ʻoe ua like kēlā me kēia cell i loko o kou kino me kahi hale hana liʻiliʻi. I loko o kēia mau hale hana, aia kahi keʻena kūikawā i kapa ʻia ʻo 'Lysosome'. Hana kēia mau lysosome e like me ka mea hoʻomaʻemaʻe i loko o ko mākou hale. No ke kōkua ʻana iā lākou e hana pono i kēia hana, loaʻa iā lākou nā limahana kūikawā i kapa ʻia ʻo 'Enzymes'. ʻO kēia mau enzymes nā mea like ʻole e komo mai i loko o kā mākou mau cell, no ka laʻana:

• Nā kalapona (ʻo ia hoʻi nā mea e like me ka fiber, starch, a me ke kō)
• Nā lipids (nā ʻano momona)
• Nā protein
• Nā ʻāpana kelepona kahiko a pono ʻole

Kōkua lākou i ka wāwahi, hoʻopau, a hoʻoheheʻe i nā mea like me ia. Kāhea mākou i kēia kaʻina hana he metabolism . No laila, hana pū kēia mau enzymes a me nā lysosomes e mālama i ko mākou mau cell i maʻemaʻe a olakino.

No laila he aha ka mea e hana ai i nā maʻi mālama lysosomal (LSD)?

I kēia manawa, e noʻonoʻo i kahi limahana kūikawā ma ka ʻoihana hoʻomaʻemaʻe o kēlā hale hana i ʻōlelo ʻia ma mua, he aha ka mea e hana inā ʻaʻole hana pono kahi enzyme, a inā ʻaʻole loaʻa kēlā enzyme? ʻO ia ka manawa e hoʻomaka ai ka pilikia.

ʻO ia ka mea e hana ʻia i loko o ke kino o kekahi me ka maʻi mālama lysosomal (LSD). ʻAʻohe o lākou i kahi enzyme, a i ʻole kekahi mea ʻē aʻe e kōkua ana i kēlā hana enzyme (enzyme activator a modifier paha). A laila, ʻaʻole hiki i kēlā mau lysosomes ke wāwahi pono i nā mea e like me nā momona a me nā kō e pono ai lākou e wāwahi.

No laila he aha ka mea e hana ʻia? Hoʻomaka kēia mau mea hiki ʻole ke haki e hōʻiliʻili i loko o nā cell. Ua like ia me kahi puʻu ʻōpala. I ka hala ʻana o ka manawa, lilo kēia mau mea i mea ʻawahia a hōʻino i nā cell. Hiki i kēia pōʻino ke laha a hoʻopilikia i nā ʻano kino like ʻole i loko o ko mākou kino. Eia kekahi laʻana:

• lolo
• ʻŌnaehana Nervous Waena
• Puʻuwai
• ʻŌnaehana iwi
• ʻIli

ʻO kēia ka mea e hana ʻia ana i ka maʻi mālama lysosomal (LSD), i ka maʻalahi.

Aia kekahi mau ʻano maʻi mālama lysosomal (LSD)?

ʻAe, a hiki i kēia manawa, ua ʻike nā kānaka noiʻi ma mua o 50 mau ʻano o nā maʻi mālama lysosomal (LSD). Ke ʻike ʻia nei nā ʻano hou. Paʻakikī loa, ʻeā?

Ma keʻano laulā, hiki ke puʻunaue ʻia kēia mau maʻi i ʻekolu mau ʻano nui ma muli o ka enzyme i nele.

Nā lipidoses

Hiki mai kēia ʻano maʻi ke nele ke kino i kahi enzyme e pono ai e wāwahi i nā lipids. Eia kekahi mau laʻana:

• Ka Maʻi Mālama Cholesteryl Ester
• Maʻi ʻo Wolman

Nā Mucopolysaccharidoses

Hana ʻia kēia mau mea i ka wā e nalowale ai ka enzyme e pono ai e wāwahi i nā glycosaminoglycans, kahi ʻano molekole kō paʻakikī . Eia nā hiʻohiʻona:

• ʻO ka maʻi Hunter
• Ka maʻi o Hurler

Nā Sphingolipidosis

Hana ʻia kēia ʻano ke nele kahi enzyme e wāwahi i kahi ʻano momona kūikawā i kapa ʻia ʻo sphingolipids . ʻO kēia mau sphingolipids he mau mea e hana ana i nā hana kūikawā, e like me ka pale ʻana i ka ʻili o kā mākou mau cell. ʻO kekahi mau maʻi e hāʻule ana i loko o kēia māhele:

• Maʻi Fabry
• Maʻi Gaucher
• ʻO ka maʻi Krabbe / Globoid Cell Leukodystrophy
• ʻO ka Leukodystrophy Metachromatic
• ʻO ka maʻi Niemann-Pick (NP)
• Maʻi Sandhoff
• ʻO ka maʻi Tay-Sachs

Nā ʻano LSD ʻē aʻe

Ma waho aʻe o kēia mau māhele nui, aia kekahi mau ʻano LSD ʻē aʻe. Eia kekahi laʻana:

• Maʻi Batten
• ʻO ke kūpikipikiʻo
• Maʻi Danon
• Maʻi Pompe

ʻIke ʻoe, ua hoʻokumu ʻia kēia mau maʻi a pau e ka nele o kahi enzyme kikoʻī. ʻOkoʻa ka maʻi a me kona hopena ma muli o ka enzyme i nele.

ʻO wai ka mea hiki ke loaʻa i kēia mau maʻi mālama lysosomal (LSD)? Pehea ka maʻamau o lākou?

ʻO kaʻoiaʻiʻo, hiki i kekahi ke loaʻa i kahi maʻi mālama lysosomal (LSD). Eia nō naʻe, ʻoi aku ka nui o ka loaʻa ʻana o ka maʻi i kekahi mau hui lāhui a me nā ʻāina. No ka laʻana, ʻoi aku ka maʻamau o kekahi mau ʻano LSD i nā Iudaio ʻEulopa Hikina a me nā kānaka Finnish.

He mea maʻamau kēia mau maʻi a hoʻokahi wale nō i loko o 40,000 a 60,000 poʻe i loaʻa nā LSD. ʻO ia hoʻi, he hui maʻi kakaikahi loa kēia. ʻO ia ke kumu i lohe ʻole ai ka poʻe he nui iā lākou.

He aha ke kumu o nā maʻi mālama lysosomal (LSD)?

ʻO nā maʻi mālama Lysosomal (LSD) he mau maʻi metabolic i hoʻoilina ʻia mai ka hānau ʻana mai a ua hoʻokumu ʻia e nā kumu genetic . I mea e pololei ai, ʻo ka hapa nui o kēia mau mea i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna ma ke ʻano he ' Autosomal Recessive Disorders' .

I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o ka 'auto-retard'. I ka ʻōlelo maʻalahi, penei:

ʻO ka maʻamau, loaʻa iā mākou hoʻokahi kope o kēlā me kēia gene mai kēlā me kēia makua. No ka hoʻomohala ʻana i kahi LSD,Pono ke keiki e hoʻoilina i kahi kope i hoʻololi ʻia o ka gene no ka maʻi mai ka makuahine a me ka makuakāne. ʻO ka mea nui, ʻo kēia mau mākua he mau mea lawe wale nō o ka gene i hoʻololi ʻia. ʻO ke ʻano kēia, ʻaʻohe o lākou LSD, akā, aia iā lākou ka gene e hiki ai ke hoʻoulu i ka maʻi.

No laila, inā he mau mea lawe keiki nā mākua ʻelua, eia nā manawa kūpono ke loaʻa iā lāua kahi keiki:

• Aia he 25% (1 i loko o 4) ka manawa e olakino ai ke keiki me ka ʻole o ka hoʻoilina ʻana i kekahi mau genes i hoʻololi ʻia.
• Aia he 25% (1 i loko o 4) ka manawa e loaʻa ai i kahi keiki ka LSD (inā hoʻoilina lākou i ka gene i hoʻololi ʻia mai nā mākua ʻelua).
• Aia he 50% (1 i loko o 2) ka manawa e lilo ai ke keiki i mea lawe asymptomatic, e like me nā mākua (inā hoʻoilina lākou i ka gene i hoʻololi ʻia mai hoʻokahi makua wale nō).

Maopopo iā ʻoe? He mea paʻakikī iki paha kēia, akā pēlā ke ʻano o ka laha ʻana o nā maʻi hoʻoilina.

Aia kekahi mau ʻano LSD i kapa ʻia ʻo X-linked Inheritance . ʻO ke ʻano kēia, aia ka gene no ka maʻi ma ka chromosome X, no laila hiki i kahi keiki (ʻoi aku hoʻi ke keiki kāne) ke hoʻoilina i ka maʻi mai ka makuahine wale nō. ʻO ka maʻi ʻo Danon, ka maʻi ʻo Fabry, a me ka Hunter Syndrome ʻekolu mau maʻi.

Ma waho aʻe o kēia mau kumu hoʻoilina, i kekahi manawa hiki i nā mea aʻe ke kōkua i ka hoʻonui a i ʻole ka hoʻomohala ʻana o LSD:

• Ka mumū i loko o ke kino.
• ʻO ke koʻikoʻi oxidative ka pilina ma waena o ke kino a me nā radical manuahi , ʻo ia nā huahana o ka metabolism.

ʻIke pinepine ʻia nā LSD i ka wā hāpai a i ʻole ma hope koke o ka hānau ʻana. Eia nō naʻe, he mea kākaʻikahi loa, hiki iā lākou ke hoʻomaka i nā pākeke. ʻOi aku ka ʻino o nā LSD e hoʻomaka ana i ka wā kamaliʻi, ʻoiai ʻoi aku ka liʻiliʻi o ka ʻino o nā mea e hoʻomaka ana ma hope o ke ola.

He aha nā hōʻailona o nā maʻi mālama lysosomal (LSD)?

Hiki ke ʻokoʻa loa nā hōʻailona o kēia mau maʻi. Aia ia ma luna o:

• Ma muli o nā pūnaewele a i ʻole nā ​​​​ʻōkana i hoʻopilikia ʻia e LSD.
• Aia nō ia i ke ʻano o ka LSD.

Eia nō naʻe, aia kekahi mau hōʻailona i maʻamau i ka hapa nui o nā ʻano LSD. Eia kēia mau mea:

• Ka hoʻonui ʻia ʻana o nā ʻōpū i loko o ka ʻōpū, e like me nā puʻupaʻa, ke akepaʻa, ka pancreas, ka spleen, a i ʻole ka ʻōpū (visceromegaly).
• Nā loli o nā ʻiʻo iwi.
• Lilo nā hiʻohiʻona o ka helehelena i mea ʻinoʻino iki. Eia kekahi laʻana, he lae e kūlou ana, he ihu pālahalaha, a me nā lehelehe i hoʻonui ʻia .
• Ka lohi o ka ulu ʻana o ke keiki. Hiki ke piʻi mālie kēia i ka hala ʻana o ka manawa.

Inā loaʻa i kāu keiki kekahi a ʻoi aku paha o kēia mau hōʻailona, ​​​​he mea nui loa e ʻike koke i ke kauka no ka ʻōlelo aʻo.

Pehea e ʻike ʻia ai nā maʻi mālama lysosomal (LSD)?

Hiki i nā kauka ke ʻike i nā maʻi mālama lysosomal (LSD) i ka wā hāpai. Hoʻohana lākou i nā hoʻokolohua nānā prenatal . Eia kekahi laʻana:

• ʻAmniocentesis (hoʻāʻo ʻana i ke kahe i loko o ka ʻōpū)
• ʻO ka nānā ʻana i kahi ʻāpana o ka placenta ( Chorionic Villus Sampling )

No ka nānā ʻana i nā LSD i nā pēpē hānau hou, hiki ke hana ʻia nā hoʻāʻo koko e ʻimi i nā enzymes haʻahaʻa. I kekahi manawa, lawe ʻia kahi kulu koko liʻiliʻi (nā kiko koko maloʻo) mai kahi manamana lima, hohola ʻia ma ka pepa kūikawā, waiho ʻia e maloʻo, a laila hoʻāʻo ʻia no nā enzymes.

Inā kānalua ʻoe he LSD kou a i ʻole kāu keiki, hiki ke kuhikuhi ʻia ʻoe i kahi endocrinologist a i ʻole pediatric endocrinologist . No nā keiki a me nā pākeke, hiki i ke kauka ke ʻōlelo i nā hoʻokolohua e like me:

• Nā hoʻāʻo koko: E nānā i nā pae enzyme.
• Hoʻāʻo ʻana i ka hoʻoilina: E nānā i nā mutations i kāu mau genes.
• Biopsy punch: E lawe i kahi ʻāpana liʻiliʻi o ka ʻili a nānā i nā loli genetic.
• Nā hoʻāʻo mimi / urinalysis: E ana i ka nui o nā substrates a nā enzymes e hoʻohana maʻamau ai.

Ma waho aʻe o kēia, hiki ke hana ʻia nā hoʻokolohua ʻē aʻe e ʻike ai inā ua hōʻino ʻia kou mau kino. Eia kekahi laʻana:

• Helu Koko Piha
• Hoʻokolohua maka
• Hoʻāʻo lohe
• Nā hoʻāʻo puʻuwai: e like me ka echocardiogram a me ka electrocardiogram (EKG) .
• Nā hoʻokolohua hana puʻupaʻa
• Nā hoʻāʻo hana ate
• MRI scan (MRI)
• Nā kukuna X

Hoʻohana ʻia kēia mau hoʻokolohua e hoʻoholo pono ai i ke ʻano o ka maʻi a me ke koʻikoʻi o ia mea.

Pehea e mālama ʻia ai nā maʻi mālama lysosomal (LSD)?

Hoʻomaʻamaʻa pinepine ʻia nā maʻi mālama Lysosomal (LSD) ma nā kikowaena lapaʻau kūikawā. ʻAʻohe lāʻau lapaʻau no kēia mau maʻi. Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hōʻemi i ka hōʻino ʻana o nā kino. ʻO kēia mau mea:

• Lapaʻau Hoʻololi Enzyme (ERT): Pili kēia i ka lawelawe ʻana i kahi enzyme i hana ʻia ma ka genetics i ke kino ma o ka intravenous.
• Nā Hoʻoili Kelepona Kumu:Hoʻoili ʻia nā pūnaewele kumu, mai nā mea hāʻawi a i ʻole mai ke koko umbilical. Hiki i kēia mau pūnaewele ke kōkua i ka hana ʻana i ka enzyme i nalowale. Kōkua pū lākou i ka hōʻemi ʻana i ka mumū a me ka hōʻino ʻana o nā ʻiʻo.
• ʻO ka Substrate Reduction Therapy (SRT): Pili kēia i ka hāʻawi ʻana i nā lāʻau lapaʻau e hōʻemi i ka nui o nā mea (substrates) e hōʻiliʻili ana i loko o nā cell. No ka laʻana, hoʻohana ʻia ʻo Miglustat no ka maʻi Gaucher. Aia nā SRT ʻē aʻe i nā hoʻokolohua lapaʻau i kēia manawa.

Ke ʻimi nei nā kānaka noiʻi i nā lāʻau lapaʻau hou no nā LSD. ʻO kekahi o lākou:

• Lapaʻau Gene: Aia nō kēia i ke kahua noiʻi. Pili ia i ka hoʻololi ʻana i nā genes i hōʻino ʻia me nā mea olakino.
• ʻO ka lāʻau lapaʻau Chaperone Pharmacological (PCT): Ma kēia, hoʻopaʻa nā molekala liʻiliʻi i nā enzymes i hōʻino ʻia a hoʻomaikaʻi i ka hana o nā lysosomes.

Ma waho aʻe o kēia mau lāʻau lapaʻau kikoʻī, hoʻohana ʻia nā lāʻau lapaʻau ʻē aʻe e kāohi i nā hōʻailona. Eia kekahi laʻana:

• Nā lāʻau pale kino
• Nā lāʻau anti-inflammatory nonsteroidal (NSAIDs)
• Nā pale lima orthopedic
• Nā lāʻau lapaʻau ʻē aʻe e pili ana i nā hōʻailona a me nā ʻōpū i hoʻopilikia ʻia
• Hoʻōla kino
• Hoʻōla ʻōlelo
• I kekahi manawa hana ʻoki kino

Hiki ke hoʻemi ʻia ka pilikia o ka hoʻomohala ʻana i nā maʻi mālama lysosomal (LSD)?

ʻAʻohe mea hiki iā mākou ke hana e hōʻemi i ka pilikia o ka hoʻomohala ʻana i nā maʻi mālama lysosomal (LSD) no ka mea ua hoʻokumu ʻia e nā kumu genetic. Eia nō naʻe, ʻo ka hoʻomaka ʻana i ka lāʻau lapaʻau i ka wā e ʻike ʻia ai ʻoe a i ʻole kāu keiki me ka maʻi hiki ke hoʻomaikaʻi nui i kou ʻano ola.

He aha ke ʻano o ka wā e hiki mai ana e hiki i kekahi me LSD ke manaʻo?

ʻO ka wā e hiki mai ana o kahi kanaka me LSD e hilinaʻi ʻia ana i kekahi mau kumu:

• Pehea ka wikiwiki o ka ʻike ʻia ʻana o ka maʻi.
• He aha ke ʻano o ka lāʻau lapaʻau āu e loaʻa ai?
• He mea wale nō ia e pili ana i ke ʻano o ka LSD.
• Inā paha e hiki i nā LSD ke hele i nā wahi me nā pono lapaʻau kūikawā.

Ma keʻano laulā, ʻoi aku ka pōkole o ke ola o ke kanaka me ka LSD koʻikoʻi. Eia nō naʻe, i nā LSD ʻoi aku ka koʻikoʻi, inā hoʻomaka ʻia ka lāʻau lapaʻau ma mua o ka hōʻino ʻia ʻana o nā kino, hiki paha iā lākou ke ola lōʻihi.

Pehea e hiki ai iaʻu ke mālama iaʻu iho a me kaʻu keiki i ka wā e noho ana me LSD?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka maʻi mālama lysosomal (LSD), hiki ke lilo i pilikia nui noʻonoʻo. No laila, he mea nui loa ke ʻimi i ke kōkua mai kahi psychologist. Hiki iā lākou ke aʻo iā ʻoe i nā ala e kōkua iā ʻoe e hoʻoponopono i ke kūlana me ka naʻau.

Eia kekahi, he mea maikaʻi ke komo ʻana i nā hui kākoʻo. Ma kēlā ala hiki iā ʻoe ke hālāwai me nā poʻe ʻē aʻe e kū nei i nā pilikia like a kaʻana like i kā lākou ʻike.

Āhea wau e ʻike ai i ke kauka?

Inā e ʻoi aku ka ʻino o kou mau hōʻailona, ​​a inā ʻaʻole ʻoe e ʻike i nā hopena mai kāu mau lāʻau lapaʻau ma hope o kekahi manawa, e ʻike pono i kāu kauka. Hiki iā ia ke kuhikuhi i nā lāʻau lapaʻau ʻē aʻe e hiki ke kōkua iā ʻoe.

Leka Hoʻihoʻi Hope Loa

ʻO nā maʻi mālama Lysosomal, a i ʻole LSD, he hui ia o nā maʻi genetic kakaikahi i loaʻa mai ka hōʻiliʻili ʻana o nā mea ʻawahia i loko o nā cell o ko kākou kino. Hiki i kēia mau mea ʻawahia ke hōʻino i nā cell a me nā ʻano kino like ʻole.

Ua ʻike ʻia ma mua o 70 mau ʻano LSD. Hoʻokumu ʻia lākou e nā hoʻololi genetic. ʻOiai ʻokoʻa nā hōʻailona ma muli o ke ʻano o LSD, ʻo nā hōʻailona maʻamau e komo pū me nā ʻōpū ʻōpū i hoʻonui ʻia, nā hiʻohiʻona helehelena ʻāʻī, a me nā lohi o ka ulu ʻana.

Hiki ke ʻike ʻia nā LSD i ka wā hāpai, i nā pēpē hānau hou, a i ʻole i nā keiki a me nā pākeke ma o nā hoʻāʻo koko, nā hoʻāʻo genetic, biopsies, a me nā hoʻāʻo mimi.

ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia kēia mau maʻi, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola. No laila, he mea nui loa ka ʻike mua ʻana i ka maʻi a ʻimi i ka lāʻau lapaʻau kūpono. Inā he mau nīnau hou kāu e pili ana i kēia, mai kānalua e nīnau i kāu kauka, ʻae?

Nā Maʻi Mālama Lysosomal, LSD, Nā Maʻi Genetic, Enzymes, Nā Maʻi Metabolic, Nā Maʻi Kakaikahi, Ola Kino o ke Keiki