He aha ka Wolfram Syndrome? E kamaʻilio kākou e pili ana i ia mea!

Ua lohe paha ʻoe i ka Wolfram Syndrome? He mea hou paha kēia inoa iā ʻoe. He ʻano maʻi laha ʻole ia e pili ana i ka poʻe liʻiliʻi loa, akā hiki ke koʻikoʻi loa. Hiki iā ia ke hōʻino i kou lolo a me nā ʻiʻo ʻē aʻe i loko o kou kino. He mea nui e makaʻala i kēia ʻano, ʻoiai hiki ke hoʻomaka nā hōʻailona e ʻike ʻia i ka wā kamaliʻi.

He aha maoli ka Wolfram Syndrome?

I ka ʻōlelo maʻalahi, ʻo Wolfram syndrome kahi maʻi genetic i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. He maʻi neurodegenerative ia, ʻo ia hoʻi, hōʻino ia i ka lolo a me ka ʻōnaehana nerve i ka hala ʻana o ka manawa. Hoʻoulu kēia i nā hōʻailona e ulu mālie, e hoʻomaka pinepine ana i ka wā kamaliʻi a hoʻomau i ka wā makua. ʻO ka maʻi diabetes mellitus a me nā pilikia ʻike pinepine nā hōʻailona mua o ka maʻi ma mua o ka 15 makahiki. I ka hala ʻana o ka manawa, hiki ke lilo ka hana o ka lolo i mea hōʻino a i kekahi manawa he mea hoʻoweliweli i ke ola.

Aia kekahi mau ʻano o ka Wolfram Syndrome?

ʻAe, ua loaʻa i nā kauka ʻelua ʻano genes e pili ana i kēia maʻi. ʻIke ʻoe, ʻo nā genes nā ʻāpana liʻiliʻi o ka DNA e loaʻa ana nā ʻike āpau i loko o ko mākou kino. Loaʻa i ka poʻe me ka Wolfram syndrome kekahi mau loli i loko o kēia mau genes, a mākou e kapa nei he mutations. No laila, ua hoʻokaʻawale ʻia e like me ka gene i hoʻopilikia ʻia:

• ʻO ka maʻi Wolfram ʻano 1: Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene i kapa ʻia ʻo "WFS1 gene".
• ʻO ka maʻi Wolfram ʻano 2: Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene i kapa ʻia ʻo (WFS2 (CISD2) gene).

Aia paha he ʻokoʻa iki i nā hōʻailona o kēia mau ʻano ʻelua.

Pehea i hoʻoilina ʻia ai kēia maʻi?

ʻO ka maʻamau, no ke keiki e loaʻa i ka maʻi Wolfram, pono nā mākua ʻelua e lawe i ka hoʻololi ʻana o ka gene nona ke kuleana no ka maʻi. ʻO ke ʻano kēia, pono i ke keiki ke hoʻoilina i ka gene i hoʻololi ʻia mai nā mākua ʻelua. Eia nō naʻe, he mea kakaikahi loa, hiki ke hoʻoilina ʻia ka maʻi Wolfram type 1 mai hoʻokahi makua wale nō.

Pehea ka maʻamau o ka Wolfram Syndrome?

Ma muli o ke ʻano kakaikahi loa, he paʻakikī ke ʻōlelo pololei i ka nui o ka poʻe i loaʻa iā ia. Ua ʻike ʻia kekahi noiʻi ma United Kingdom, hoʻopilikia kēia ʻano ma kahi o hoʻokahi i loko o 770,000 mau kānaka . Ua hōʻike ʻia nā noiʻi mai nā ʻāina ʻē aʻe he mea maʻamau kēia ʻano ma kekahi mau wahi, ʻoi aku hoʻi i nā kaiāulu kahi e mare ai nā hoahānau pili a loaʻa nā keiki.

ʻOi aku ka laha ʻole o ka maʻi Wolfram ʻano 2. Ua hōʻike wale ʻia i loko o kekahi mau ʻohana ma ka honua holoʻokoʻa.

He aha nā hōʻailona nui o ka Wolfram syndrome type 1?

ʻAʻole nā ​​kānaka a pau me ka Wolfram syndrome type 1 e ʻike i nā hōʻailona like, a hiki ke ʻokoʻa mai kēlā kanaka a kēia kanaka. Eia naʻe, ʻo ka hapa nui, ʻike ʻia kēia mau hōʻailona ma kahi hoʻonohonoho, i ka wā kamaliʻi a me ka wā ʻōpio. Eia ke kaʻina maʻamau, a me ka makahiki maʻamau e ʻike ʻia ai nā hōʻailona:

• ʻO ka maʻi diabetes mellitus - ʻO ka maʻamau i ka makahiki 6: ʻO ka maʻi diabetes mellitus kahi pilikia me ka hiki o ke kino ke omo i ke kō, a i ʻole ka glucose, mai ka meaʻai a mākou e ʻai ai. ʻO ka maʻamau, hana kā mākou pancreas i kahi hormone i kapa ʻia ʻo insulin. Kōkua kēia insulin i kā mākou mau cell e omo i ke kō mai ke koko. No laila, inā ʻaʻole hana pono ʻia ka insulin, a inā ʻaʻole pane pono nā cell i ka insulin i hana ʻia, hiki ke kiʻekiʻe loa nā pae kō koko. ʻO ka maʻi diabetes e pili ana me ka Wolfram syndrome ua like ia me ka maʻi diabetes Type 1, akā ʻaʻole ia he maʻi autoimmune. ʻO nā hōʻailona o ka maʻi diabetes e komo pū ana me ka mimi pinepine, ka makewai nui, ka ʻike pohihihi, a me ka pohō kaumaha i wehewehe ʻole ʻia .

• ʻO ka Optic Atrophy - ʻO ka maʻamau, hiki mai ia ma kahi o 11 mau makahiki: He ʻano hōʻino mālie kēia o ke aʻalolo optic, ka mea e lawe ana i nā leka mai nā maka a i ka lolo. Ua kapa ʻia hoʻi kēia ʻo Optic Atrophy. Hiki i nā hōʻailona ke komo pū me ka ʻike maka ʻole, ka nalowale o ke akaka, ka nalowale o ka ʻike kala, a i ʻole ka nalowale o ka ʻike peripheral . No ka laʻana, ʻaʻole paha e maopopo hou nā leka ma ka nūpepa e like me ka wā ma mua, a ʻaʻole paha e hiki i ke keiki ke ʻike hou i ka papa ʻeleʻele ma ke kula.

• ʻO ka nalowale o ka lohe sensorineural - ʻO ka maʻamau ka hopena i ka makahiki 13: He nalowale kēia o ka lohe i hoʻokumu ʻia e ka hōʻino ʻana i nā ʻāpana koʻikoʻi o ka pepeiao o loko. Ua kapa ʻia kēia he nalowale o ka lohe sensorineural. Hiki ke ʻoi aku ka ʻino o kēia nalowale o ka lohe me ka ʻelemakule, a i kekahi mau hihia , hiki iā ia ke alakaʻi i ka kuli piha. Pono ʻoe e hoʻohuli i ke TV e lohe, a i ʻole pono ʻoe e nīnau "He aha kāu i ʻōlelo ai?" ke kamaʻilio nei kekahi.

• ʻO ka maʻi diabetes Insipidus - ʻO ka maʻamau i ka makahiki 14: ʻAʻole anei kēia ka maʻi diabetes (Diabetes Mellitus) i ʻōlelo ʻia ma luna? Ua kapa ʻia kēia ʻo (Diabetes Insipidus). ʻO ka mea e hana ʻia ma kēia, ʻo ia ka hana ʻole ʻia ʻana o kahi hormone (antidiuretic hormone) e kāohi ana i ka nui o ka wai i loko o kā mākou mimi, a i ʻole ʻaʻole pane pono ke kino iā ia. Hoʻopuka kēia i ka nui o ka mimi, e like me ka nui o ka wai. Ma muli o kēia mimi nui, hiki ke loaʻa ka dehydration, ka electrolyte imbalance, ka nāwaliwali, ka waha maloʻo, a me ka constipation.

ʻO ka inoa kahiko o ka maʻi Wolfram, ʻo ia hoʻi, ʻo (DIDMOAD). Hoʻokumu ʻia ia ma ka hoʻohui ʻana i nā leka mua o kēia mau hōʻailona nui:

* Diabetes Insipidus (DI) - Ka maʻi maʻi

* Maʻi Diabetes Mellitus (DM) - Maʻi Diabetes

* Optic Atrophy (OA) - ʻIke maka i hoʻopilikia ʻia

* Kuli (D) - Ka hemahema o ka lohe/kuli

He aha nā hōʻailona ʻē aʻe o ka Wolfram syndrome type 1?

Ma waho aʻe o kēlā mau hōʻailona nui ʻehā, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe. Akā, ʻaʻole kēia mau mea i nā kānaka a pau.

• Nā maʻi hormonal: Hypopituitarism, hypogonadism, lohi o ka ulu ʻana, a me ka lohi o ka hoʻomaka ʻana o ka menstruation i nā kaikamahine.
• Nā hōʻailona e pili ana i ka ʻōnaehana nerve: kūpaʻa ʻole i ka hele ʻana a me ka neʻe ʻana (ataxia), nalowale o ka hoʻomanaʻo a me ka hiki ke noʻonoʻo (dementia), ʻeha poʻo, kū ka hanu ʻana no ka manawa pōkole i ka wā hiamoe (central sleep apnea), nā hopu ʻana (epilepsy), a me ka nalowale o ka ʻono a me ke ʻala.
• Nā pilikia noʻonoʻo: ke kaumaha, ka hopohopo, nā hoʻouka kaua panic, nā loli o ka naʻau, a i kekahi manawa nā hana kolohe.
• Nā pilikia o ka ʻōnaehana mimi: Nā maʻi pinepine o ke ala mimi, ka paʻa ʻole o ka mimi, a me ka hoʻokaʻawale piha ʻole ʻana o ka ʻōpū mimi.

He aha nā hōʻailona o ka Wolfram syndrome type 2?

Loaʻa i ka poʻe me ka Wolfram syndrome type 2 nā hōʻailona like me nā ʻano type 1. Eia nō naʻe, hiki iā lākou ke ʻike i kēia mau mea:

• Ke kahe koko ʻano ʻē.
• Nā ʻeha ʻōpū.

Eia nō naʻe, ʻo ka poʻe me ke ʻano 2 e ʻike pinepine ʻole i ke ʻano i kapa ʻia ʻo ka maʻi diabetes insipidus a me nā pilikia noʻonoʻo.

He aha ke kumu o ka Wolfram Syndrome?

E like me kā mākou i kūkākūkā mua ai, ua hoʻokumu ʻia kēia e nā kumu hoʻoilina. ʻO ke kumu nui ka hoʻoilina o kekahi mau mutations i loko o nā genes (WFS1) a i ʻole (WFS2 (CISD2) mai nā mākua a i nā keiki.

Pehea e ʻike ai i kēia maʻi?

ʻO kaʻoiaʻiʻo, hiki i kekahi manawa ke paʻakikī iki ka ʻike ʻana i ka maʻi Wolfram. No ka mea hiki i nā kauka ke mālama i kēlā me kēia hōʻailona ma ke kaʻawale, ʻaʻole paha lākou e ʻike koke he ʻāpana lākou a pau o ka maʻi hoʻokahi. I ka manawa pinepine, ma hope o ka ʻike ʻia ʻana o kekahi mau hōʻailona e kū mai ai ka kānalua he maʻi Wolfram paha ia.

Inā kānalua ke kauka i kēia, e paipai ʻo ia i ka hoʻāʻo genetic.Hiki i kēia hoʻāʻo ke ʻike pololei inā he mau mutations i loko o nā genes (WFS1) a me (WFS2 (CISD2). Hiki i kēia ke hōʻoia i ka maʻi.

Pehea e mālama ʻia ai ka Wolfram Syndrome?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau maʻamau i kēia manawa e ho'ōla loa i kēia maʻi, e hoʻōki i ka holomua o ka maʻi, a i ʻole e hoʻolohi iā ia. I kēia manawa, ʻo ka mea wale nō e hana ʻia, ʻo ia ke kāohi i nā hōʻailona e kū mai ana. Eia kekahi laʻana:

• Hāʻawi ʻia ka insulin i nā kānaka me ka maʻi diabetes e kaohi i ko lākou pae kō koko.
• Hiki ke hoʻohana ʻia nā mea kōkua lohe e ka poʻe paʻakikī ke lohe.
• Hoʻōla ʻia nā hōʻailona ʻē aʻe e like me ia.

Ke noiʻi ʻia nei kekahi mau lāʻau lapaʻau hou?

ʻAe, he nūhou maikaʻi kēia! Ke hoʻomau nei nā kānaka noiʻi i ka loaʻa ʻana o nā lāʻau lapaʻau hou e hiki ke hoʻomaikaʻi i ke ʻano o ke ola no ka poʻe me ka Wolfram syndrome. Eia kekahi o nā lāʻau lapaʻau e loaʻa nei ka nānā nui ʻia i kēia manawa:

• Nā lāʻau lapaʻau e hōʻemi ana i ka hōʻino ʻana i nā cell i hana ʻia e ka hoʻopilikia ʻana i ka hana protein.
• Hoʻoponopono ka lāʻau lapaʻau gene i nā genes (WFS1) a me (WFS2 (CISD2) i hoʻololi ʻia a pani paha iā lākou me nā genes maikaʻi.
• ʻO ka regenerative therapy kahi lāʻau lapaʻau e ho'ōla ai i nā ʻiʻo i hōʻino ʻia a hana paha i nā ʻiʻo hou.

Aia kekahi o kēia mau lāʻau lapaʻau i loko o nā hoʻokolohua lapaʻau. Aia kekahi i loko o ke kahua noiʻi. E kamaʻilio me kāu kauka e pili ana i kēia mau lāʻau lapaʻau hou. E hiki iā ia ke haʻi iā ʻoe inā kūpono lākou iā ʻoe a i kāu keiki paha.

Hiki ke pale ʻia ka Wolfram Syndrome?

ʻO ka mea pōʻino, ʻaʻole hiki ke pale ʻia nā maʻi genetic e like me Wolfram syndrome.

He maʻi make anei kēia?

Ua ʻōlelo ʻia he maikaʻi ʻole ka wānana o ka poʻe me ka maʻi Wolfram. Ma kekahi noiʻi o 45 mau maʻi, ʻo ko lākou manaʻolana ola ma waena o 25 a me 49 mau makahiki, me ka awelika o ke ola ma kahi o 30 mau makahiki. I ka hapanui o nā hihia, ʻo ke kumu o ka make ʻana, ʻo ia ka nāwaliwali mālie o ka lolo, ka ʻāpana o ka lolo e kaohi ana i nā hana koʻikoʻi e like me ka hanu ʻana a me ka puʻuwai.

Eia nō naʻe, ke holomua iki nei kēia kūlana ma muli o ka hoʻomaikaʻi ʻana o nā ʻano hana diagnostic, nā hoʻomaikaʻi ʻana i ka mālama ʻana i nā hōʻailona, ​​​​a me nā manaʻolana no nā lāʻau lapaʻau hou.

I ka manawa hea e kamaʻilio ai ʻoe me ke kauka e pili ana i ka hoʻāʻo genetic?

Inā loaʻa i kekahi o kou ʻohana ka Wolfram syndrome, a i ʻole he mōʻaukala kona, he mea nui e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo ʻana i ka genetic. Hiki i kahi hoʻāʻo koko maʻalahi a i ʻole ka laʻana lawai ke haʻi iā ʻoe:

• He aha kou pilikia o ka loaʻa ʻana o kahi keiki me kēia maʻi?
• E ʻike inā loaʻa i kāu keiki ʻo Wolfram syndrome ma mua o ka puka ʻana o nā hōʻailona.

ʻOiai ʻaʻohe lāʻau lapaʻau no ka maʻi Wolfram i kēia manawa, ua hōʻike ka noiʻi a me nā hoʻokolohua lapaʻau i ka hoʻohiki no nā lāʻau lapaʻau hou. Inā ʻoe a i ʻole kekahi o kou ʻohana i loaʻa iā Wolfram syndrome, e nīnau i kāu kauka e pili ana i kēia mau hoʻokolohua lapaʻau.

Hiki ke paʻakikī loa ka noho ʻana me kahi maʻi laha ʻole e like me Wolfram Syndrome, a hiki ke hoʻoluhi nui ʻia. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. E noi i kāu kauka no ke kākoʻo, ka ʻike, a malia paha e kōkua iā ʻoe e launa pū me nā poʻe ʻē aʻe e hele ana i ka mea like. Hiki i kēlā ʻano kākoʻo ke lilo i kōkua nui.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi hoʻoilina laha ʻole a paʻakikī hoʻi ʻo Wolfram Syndrome. Eia nō naʻe, he mea nui e makaʻala iā ia, e ʻike mua i nā hōʻailona, ​​a e ʻimi i ke aʻo lapaʻau kūpono.

• E makaʻala i nā hōʻailona mua: E ʻimi i ke aʻo lapaʻau, ʻoiai inā loaʻa i kahi keiki ka maʻi diabetes (Diabetes Mellitus) a me nā pilikia ʻike (Optic Atrophy) i ka wā ʻōpiopio.
• He mea nui ke aʻo ʻana i nā ʻano hoʻoilina: Inā loaʻa kēia maʻi i kekahi o kou ʻohana, e noʻonoʻo i ke aʻo ʻana a me ka hoʻāʻo ʻana i nā ʻano hoʻoilina.
• Hiki ke kāohi ʻia nā hōʻailona: ʻOiai ʻaʻohe lāʻau lapaʻau piha i kēia manawa, hiki ke mālama ʻia nā hōʻailona a hiki ke kāohi ʻia ke ʻano o ke ola i kekahi ʻano.
• E lana ka manaʻolana e pili ana i nā lāʻau lapaʻau hou: Ke hoʻomau nei ka noiʻi, no laila hiki iā mākou ke manaʻolana no nā lāʻau lapaʻau maikaʻi aʻe i ka wā e hiki mai ana.
• ʻAʻole ʻoe hoʻokahi: Hiki ke paʻakikī ke noho ikaika i ka noʻonoʻo i kahi kūlana e like me kēia. Eia nō naʻe, e kiʻi i ke kōkua mai nā kauka, ka ʻohana, a me nā hui kākoʻo.

Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. Inā he mau hopohopo kāu, mai poina e nīnau i ke kauka.

ʻO Wolfram Syndrome, maʻi hoʻoilina, maʻi diabetes, hemahema o ka ʻike, hemahema o ka lohe, maʻi neurological, DIDMOAD