Auē, he aha ka pilikia o kaʻu pēpē? E aʻo e pili ana i ka Walker-Warburg Syndrome

Ma ke ʻano he makuahine, pehea kou kaumaha a me kou makaʻu inā hānau ʻia kāu keiki liʻiliʻi me kahi ʻano ʻē, make, a ʻōʻō paha, a inā ʻōlelo nā kauka he pilikia me ka ulu ʻana o nā maka a i ʻole ka lolo? I kekahi manawa ʻo ke kumu o kēia he ʻano laha ʻole loa, akā koʻikoʻi loa, kahi maʻi genetic i loaʻa i ka wā hānau. I kēia lā e kamaʻilio mākou e pili ana i kekahi maʻi like ʻole, ʻo Walker-Warburg Syndrome.

He aha ka Walker-Warburg Syndrome?

I ka ʻōlelo maʻalahi, ʻo Walker-Warburg Syndrome kahi maʻi genetic e hoʻopilikia ana i nā ʻiʻo i ke kino o kāu keiki, ʻoiai ka lolo a me nā maka. No loko ia o kahi hui o nā maʻi i kapa ʻia ʻo congenital muscular dystrophies, e hoʻomaka ana i ka wā hānau a i ʻole i ka wā kamaliʻi a hoʻonāwaliwali mālie i nā ʻiʻo i ka hala ʻana o ka manawa. ʻO ka ʻoiaʻiʻo, hoʻoulu kēia ʻano i nā hōʻailona hoʻoweliweli i ke ola i nā keiki a, ʻo ka mea pōʻino, hoʻopōkole i ko lākou ola. He mea weliweli paha kēia iā ʻoe, akā he mea nui e ʻike i ke ʻano o ia mea.

He aha ka dystroglycanopathy? Aia kekahi pilina?

Ua lohe paha ʻoe i ka Walker-Warburg Syndrome i kapa ʻia ʻo Dystroglycanopathy . Mai hopohopo, e wehewehe wau.

ʻO ka maʻi Walker-Warburg kahi ʻano o ka dystrophy muscular congenital. ʻO ka dystrophy muscular kahi hui o nā maʻi e hoʻopilikia i nā ʻiʻo o ke kino o ke keiki. Ua hoʻokaʻawale ʻia kekahi mau ʻano o kēia mau dystrophies muscular he dystroglycanopathies. ʻO ia hoʻi, ʻo nā dystrophies muscular i hoʻokumu ʻia e nā hemahema i loko o nā genes e hana ana i ka protein dystroglycan ua kapa ʻia kēia inoa. Ua manaʻo ʻia ʻo Walker-Warburg syndrome ʻo ia ke ʻano koʻikoʻi loa, a koʻikoʻi paha, o kēia hui dystroglycanopathies.

Pehea ka maʻamau o kēia maʻi? ʻO wai ka mea hiki ke loaʻa?

He maʻi laha ʻole ka Walker-Warburg Syndrome. Ma ka honua holoʻokoʻa, ua manaʻo ʻia aia ma kahi o hoʻokahi i loko o 60,500 mau pēpē hānau hou e loaʻa ana i kēia maʻi. ʻOiai ʻo ia ka hopena o kahi hoʻololi genetic, hiki i kekahi ke loaʻa i kēia maʻi. ʻO ia hoʻi, ʻaʻole pili ka lāhui, ka hoʻomana, a me nā mea ʻē aʻe.

Hiki i kaʻu keiki ke hoʻoilina i kēia maʻi?

ʻAe, hiki i kāu keiki ke hoʻoilina i ka Walker-Warburg Syndrome.Penei ke ʻano o ka hana ʻana: Ke lawe nā mākua ʻelua i kekahi o nā genes mutated e hoʻoulu ai i ka Walker-Warburg Syndrome, ʻo ia hoʻi he kope hoʻokahi ko lāua o ka gene kīnā, e loaʻa wale i ke keiki ka maʻi inā hoʻoili nā mākua ʻelua i ka gene i ke keiki i ka wā o ka hāpai ʻana. Ua kapa ʻia kēia ʻano hoʻoilina he autosomal recessive inheritance.

E noʻonoʻo, inā hoʻoilina kāu keiki i hoʻokahi kope wale nō o kēia gene mutated mai kekahi makua, ʻaʻole e hōʻike ke keiki i nā hōʻailona, ​​akā e lilo ke keiki i mea lawe i ka maʻi. ʻO ke ʻano kēia, hiki i nā keiki a ke keiki i ka wā e hiki mai ana ke loaʻa i kekahi pilikia o ka loaʻa ʻana o kēia maʻi, inā he mea lawe pū kekahi makua ʻē aʻe.

Pehea ka hopena o ka Walker-Warburg Syndrome i ke kino o kaʻu keiki?

Hoʻopilikia nui kēia maʻi i nā ʻiʻo o ke kino o kāu pēpē. E ʻike paha ʻoe i nā loli i nā ʻiʻo o kāu pēpē i kona hānau ʻana. Hiki ke palupalu loa ke kino o ke pēpē, e like me kahi pēpē make , no ka mea, he liʻiliʻi loa ke kani o nā ʻiʻo. Ma waho aʻe o nā ʻiʻo, hoʻopilikia pū kēia kūlana i ke ʻano o ka ulu ʻana a me ka hana ʻana o ka lolo a me nā maka o kāu pēpē. Loaʻa paha i kāu pēpē nā pilikia ʻike, nā lohi o ka ulu ʻana, a me nā pilikia o ka ulu ʻana o ka noʻonoʻo. Hoʻāʻo nā kauka e kāohi i kēia mau hōʻailona me ka lāʻau lapaʻau a pale i ka pēpē mai ka pōkole ʻana o ke ola.

He aha nā hōʻailona o ka Walker-Warburg Syndrome?

Hoʻokumu ka Walker-Warburg Syndrome i nā hōʻailona e hoʻopilikia i nā ʻiʻo, ka lolo, a me nā maka o kāu keiki. Hiki ke ʻokoʻa ke koʻikoʻi o kēia mau hōʻailona. ʻIke pinepine ʻia lākou i ka wā hānau a i ʻole i ka wā kamaliʻi. Hiki i kekahi mau hōʻailona ke hoʻoweliweli i ke ola.

Nā hōʻailona e pili ana i nā ʻiʻo

Hoʻopilikia nā hōʻailona o ka maʻi Walker-Warburg i nā ʻiʻo i hoʻohana ʻia no ka neʻe ʻana i kahi keiki.

• Ke hānau ʻia kahi pēpē, ʻike ʻia paha lākou he "palupalu" e like me kahi pēpē make ma muli o ke kani haʻahaʻa o nā ʻiʻo (hypotonia) . ʻO kēia ka mea e paʻakikī ai i ka pēpē ke hāpai i ko lākou poʻo, nā lima, a me nā wāwae.
• Hoʻonāwaliwali mālie kēia ʻano i nā ʻiʻo o ke keiki, ʻo ia hoʻi, e ʻoi aku ka ʻino o nā hōʻailona i ka hala ʻana o ka manawa.
• Ma muli o ka hana pono ʻole ʻana o nā ʻiʻo o ka pēpē, hiki ke paʻakikī ke omo i ka waiū i ka wā ʻōpiopio . ʻAʻole paha lākou e hiki ke omo a ale paha i ke ʻano kūpono.

Nā hōʻailona e pili ana i ka lolo

Hoʻopilikia ka Walker-Warburg Syndrome i ke ʻano o ka ulu ʻana o ka lolo o kāu pēpē. Hiki i nā hōʻailona e pili ana i ka lolo ke komo pū me:

• ʻO ka Lissencephaly (lolo laumania) kahi kūlana kahi e ʻike ʻia ai he mau puʻupuʻu ma ka lolo ma kona ʻili, me ka ʻole o nā pelu a i ʻole nā ​​​​ʻauwaha maʻamau. I nā huaʻōlelo ʻē aʻe, ʻike ʻia ka ʻili o ka lolo he laumania.
• Ka hōʻiliʻili ʻana o ka wai i loko o ka lolo(Hydrocephalus - poʻo wai) Hiki i kēia ke hoʻonui i ke poʻo.
• Nā ʻano ʻē o ka ulu ʻana o ka lolo a me ka cerebellum a i ʻole kahi kūlana i kapa ʻia ʻo ka cerebellar cyst (Dandy-Walker malformation) .
• ʻO nā kuʻi ʻana , ʻo ia hoʻi, nā kūlana e like me ka kuʻi ʻana.

ʻO kēia mau kūlana, e hoʻopilikia ana i ka lolo o kāu keiki, hiki ke hoʻolohi i ka ulu ʻana a me nā pilikia me nā hiki noʻonoʻo .

Nā hōʻailona e pili ana i ka maka

Hiki i ka Walker-Warburg Syndrome ke hoʻopilikia i ka ulu ʻana o nā maka o kāu keiki a hoʻoulu i nā hōʻailona e like me:

• Nā maka liʻiliʻi (Microphthalmia) a i ʻole nā ​​​​maka nui (Buphthalmos) .
• ʻO ke ao o nā maka, ʻo ia hoʻi ua keʻokeʻo ke aniani o ka maka (Cataracts) .
• Ka lohi ʻana o ka hoʻoili ʻana o nā leka ma o nā aʻalolo optic e hoʻouna ana i nā leka mai nā maka i ka lolo.
• Paʻakikī ke ʻike maopopo (Hōʻino ka ʻike) .

He aha ke kumu o kēia? No ke aha lā kēia e hana nei?

Hoʻokumu ʻia ka Walker-Warburg Syndrome e kahi hoʻololi genetic . Ua ʻike ʻia ma mua o hoʻokahi kakini mau genes e hoʻokumu ana i ke kūlana, a aia paha he nui aku i ʻike ʻole ʻia. ʻO kekahi o nā hoʻololi genetic nui e hoʻokumu ai i ka maʻi ma mua o ka hapalua o nā poʻe āpau me Walker-Warburg Syndrome:

• ʻO ka POMT1
• ʻO ka POMT2
• ʻO CRPPA (i ʻike mua ʻia ʻo ISPD)
• ʻO FKTN
• ʻO FKRP
• `Nui1`
• ʻO POMGNT1
• ʻO ISPD
• `GTDC2`
• ʻAhaʻōlelo `DAG1`

Hoʻopilikia kēia mau genes i ke kaʻina hana o ka hoʻohui ʻana i nā molekala kō i kahi protein i kapa ʻia ʻo alpha-dystroglycan , kahi kaʻina hana i kapa ʻia ʻo glycosylation . Ke hana pono ʻole kēia kaʻina hana glycosylation, ʻaʻole hiki i nā olonā ʻiʻo o ka pēpē ke mālama i ko lākou ʻano i loko o ke kino. Hoʻopilikia pū kēia mau protein i ke ʻano o ka neʻe ʻana o nā hunaola nerve i loko o ka lolo i ka wā embryonic, ʻo ia ke kumu o ke kūlana lolo i kapa ʻia ʻo lissencephaly i ʻōlelo ʻia ma mua.

I ka ʻōlelo maʻalahi, ʻo nā ʻiʻo o kahi keiki me Walker-Warburg Syndrome e hoʻopaʻa mau a wehe. I ka hala ʻana o ka manawa, lilo kēia mau olonā ʻiʻo i mea hōʻino a nāwaliwali a hiki i kahi e hiki ʻole ai iā lākou ke hana hou.

Eia kekahi, hoʻopilikia ka Walker-Warburg Syndrome i ke ala e hele ai nā neurons i loko o ka lolo o ke keiki. ʻO ka maʻamau, pono e kū nā neurons ke hiki lākou i ko lākou wahi i manaʻo ʻia. Eia nō naʻe, hele pū nā neurons i hoʻopilikia ʻia i loko o ke kahe e hoʻopuni ana i ka lolo o ke keiki. He hopena nui kēia i ka ulu ʻana o ka lolo.

Pehea e ʻike ʻia ai ka Walker-Warburg Syndrome?

Hiki i kāu kauka ke hoʻomaka i ka hoʻāʻo ʻana no ka Walker-Warburg Syndrome i ka hopena o ka hāpai ʻana, a ua hōʻoia ʻia ka maʻi ma hope o ka hānau ʻana o ka pēpē.

• Hiki i kahi scan ultrasound i ka wā hāpai ke ʻike i nā hōʻailona, ​​​​ʻoiai nā mea e hoʻopilikia ana i ka lolo o ke pēpē.
• Ma hope o ka hānau ʻana o ke pēpē, hiki i nā hoʻokolohua kiʻi e like me CT scans a me MRI ke hāʻawi i kahi kiʻi maopopo o ka lolo o ke pēpē a loiloi i ke kūlana.

Aia kekahi mau hoʻokolohua e hōʻoia i ka hōʻoia o ka Walker-Warburg Syndrome:

• He hoʻāʻo ka biopsy ʻiʻo e ʻike ai inā olakino nā olonā ʻiʻo o ke keiki. Pili kēia i ka lawe ʻana i kahi ʻāpana liʻiliʻi o ka ʻiʻo a nānā iā ia.
• He hoʻāʻo koko e nānā i ka pae o Creatine Kinase (CK) i loko o ke koko. ʻO CK kahi enzyme i hoʻokuʻu ʻia i loko o ke koko ke haki nā ʻiʻo. ʻO nā pae kiʻekiʻe o CK e hōʻike ana i ka hōʻino ʻia o nā ʻiʻo.
• He hoʻokolohua maka e nānā i nā hōʻailona o ka Walker-Warburg Syndrome i nā maka o ke keiki.
• ʻO kahi hoʻāʻo koko genetic e ʻike ai i ka gene mutated e hoʻokumu ana i nā hōʻailona.

He aha nā lāʻau lapaʻau no kēia?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Walker-Warburg Syndrome. No laila, ʻo ke kumu nui o ka lāʻau lapaʻau ʻana ka hōʻoluʻolu ʻana i nā hōʻailona. Hiki ke ʻokoʻa nā koho lapaʻau no kēlā me kēia keiki i ʻike ʻia me ke ʻano, ma muli o ke ʻano o ke keiki. Hiki ke komo pū nā koho lapaʻau:

• ʻO ke ʻoki kino e wehe i ka wai keu mai ka lolo (hydrocephalus).
• Ke hāʻawi ʻana i nā lāʻau lapaʻau e pale aku ai i nā hopu ʻana.
• Hoʻoikaika kino e hoʻomaikaʻi i ka ikaika o nā ʻiʻo.
• Inā pilikia ʻoe i ka ʻai ʻana, hiki i ke hoʻokomo ʻana i kahi ʻōmole hānai ke kōkua.

ʻO ka pahuhopu o ka mālama ʻana no ka Walker-Warburg Syndrome ʻo ia ka pale ʻana i nā hōʻailona hoʻoweliweli i ke ola a kōkua i ka hoʻonui ʻana i ka manaʻolana ola o ke keiki.

Aia kekahi ala e pale aku ai i ka Walker-Warburg Syndrome?

He maʻi hoʻoilina ka Walker-Warburg Syndrome, no laila ʻaʻohe ala e pale aku ai. Inā ʻoe e hoʻolālā ana e hāpai a makemake ʻoe e ʻike i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi hoʻoilina, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo hoʻoilina a i ʻole ke aʻo ʻana i nā hoʻoilina .

Inā loaʻa kēia maʻi i kaʻu keiki, he aha kaʻu e manaʻo ai?

He maʻi holomua ka Walker-Warburg Syndrome. ʻO ke ʻano kēia, he palupalu paha nā hōʻailona i ka wā mua, akā e ʻoi aku ka ʻino o ka hala ʻana o ka manawa. He mea kaumaha paha kēia, akā ʻo ka lōʻihi o ke ola o nā pēpē me kēia maʻi , a hiki wale nō i ka wā kamaliʻi. E hāʻawi ke kauka o kāu keiki i ka lāʻau lapaʻau e pale aku i nā hōʻailona hoʻoweliweli i ke ola a hoʻolōʻihi i ke ola o kāu keiki. E hoʻomanaʻo, ʻaʻohe lāʻau lapaʻau no kēia maʻi.

Me ka maʻi o kāu keiki, he mea nui e mālama iā ʻoe iho. Hiki ke kōkua iā ʻoe a me kou ʻohana ke kamaʻilio me kahi kākāʻōlelo genetic e kōkua iā ʻoe e hoʻomaopopo a hoʻomanawanui i ka maʻi o kāu keiki a me nā koho lapaʻau. Hiki i kahi loea olakino noʻonoʻo ke kōkua iā ʻoe e hoʻomākaukau a hoʻomanawanui i ka nalowale koke e hele mai me ka maʻi o kāu keiki. Hiki i nā hui kanikau a me nā hui kākoʻo ke lilo i kumu hōʻoluʻolu nui no nā ʻohana i kēia mau manawa paʻakikī.

Āhea wau e lawe ai i kaʻu keiki i ke kauka?

Inā hōʻike kāu keiki i nā hōʻailona o ka Walker-Warburg Syndrome, ʻoiai ʻaʻole hiki ke ʻai , e kāhea koke i ke kauka o kāu keiki. Eia kekahi, e hoʻomaopopo i kāu kauka inā hoʻi koke mai nā hōʻailona o kāu keiki a i ʻole e ʻoi aku ka ʻino , ʻoiai inā ua holomua ka lāʻau lapaʻau e hōʻoluʻolu i nā hōʻailona.

Aia kāu keiki i ka pilikia o ka loaʻa ʻana o nā ʻōhū . Inā ʻike ʻoe i kāu keiki e nalowale ana ka ʻike no kekahi manawa, e ʻoniʻoni ana a neʻe paha me ke kāohi ʻole ʻia, a i ʻole e ʻike ʻia ana he huikau, makaʻu, a hoʻomaha ʻole paha, e hele koke i ka lumi pilikia o ka haukapila.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka o kaʻu keiki?

Nui paha kāu mau nīnau i kēia manawa paʻakikī. E ho'āʻo e nīnau i ke kauka o kāu keiki i kēia mau nīnau:

• Pono anei kaʻu keiki i ke ʻoki kino?
• He aha nā hopena ʻaoʻao o nā lāʻau lapaʻau?
• He aha kaʻu e hana ai inā loaʻa i kaʻu keiki kahi maʻi ʻōpū?
• ʻEhia pinepine e pono ai iaʻu e lawe i kaʻu keiki no nā hoʻokolohua olakino?

ʻO ka ʻike ʻana he maʻi genetic kāu keiki hānau hou e pale ai iā lākou mai ke ola piha ʻana he mea hōʻeha loa ia. Me kēia hōʻailona paʻakikī, e hāʻawi kāu kauka i ka lāʻau lapaʻau e pale aku i nā hōʻailona hoʻoweliweli ola a hoʻolōʻihi i ke ola o kāu keiki. Hiki i ka hōʻailona o kāu keiki ke lilo i mea naʻau nui no ʻoe a me kou ʻohana, no laila e hōʻoia e loaʻa iā ʻoe ke kākoʻo āu e pono ai. He nui ka poʻe i ʻike he kōkua ke aʻo ʻana i ka genetic e aʻo hou e pili ana i ke ʻano o ka mālama ʻana i kā lākou keiki. Hiki i kahi loea olakino noʻonoʻo ke kōkua iā ʻoe e hoʻokele i ke kaumaha, hoʻomākaukau a hoʻoponopono i kahi pohō i manaʻo ʻole ʻia. Inā makemake ʻoe i ke kōkua, e kamaʻilio me kāu kauka a e kākoʻo.

Hōʻuluʻulu Manaʻo: Leka Lawe-Home

• He maʻi laha ʻole ka Walker-Warburg Syndrome akā he maʻi koʻikoʻi loa ia no ka hoʻoilina.
• Hoʻopilikia nui kēia i nā ʻiʻo, ka lolo, a me nā maka o ke keiki.
• ʻO nā hōʻailona e komo pū ana me ka nāwaliwali o nā ʻiʻo (pēpē palupalu), nā maʻi lolo (lissencephaly, hydrocephalus), ka maʻi epilepsy, a me nā pilikia maka .
• Hana ʻia kēia e kahi kīnā genetic i hoʻoilina ʻia mai nā mākua ʻelua .
• ʻOiai ʻaʻohe lāʻau lapaʻau, aia nā lāʻau lapaʻau e kaohi i nā hōʻailona a hoʻonui i ka manaʻolana ola .
• He mea nui loa i nā mākua a me nā ʻohana ke noho ikaika i ka noʻonoʻo a loaʻa ke kākoʻo e pono ai i ka wā paʻakikī. E kōkua ke aʻo ʻana i nā ʻano hoʻoilina a me ke kākoʻo olakino noʻonoʻo i kēia.

Manaʻolana wau ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo i kēia maʻi laha ʻole. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi, a ua mākaukau nā kauka a me nā kākāʻōlelo e kōkua iā ʻoe.

ʻO ka maʻi Walker-Warburg, nā maʻi genetic, nāwaliwali o nā ʻiʻo, nā maʻi ʻino o ka lolo, nā maʻi maka, ka dystrophy muscular congenital, ke olakino o ke keiki