Loaʻa i kāu pēpē kēia mau hōʻailona? E aʻo kākou e pili ana i ka Zellweger Syndrome

Ke nānā aku kākou i kahi pēpē hānau hou, ua piha ko kākou mau naʻau i ka hauʻoli, ʻeā? Akā i kekahi manawa, ʻoiai he kakaikahi loa, hele mai kekahi mau pēpē i kēia ao me kekahi mau pilikia olakino i ka wā hānau. ʻO ka Zellweger Syndrome kahi maʻi genetic kakaikahi a koʻikoʻi e hoʻopilikia i nā pēpē hānau hou. E hopohopo paha ʻoe ke lohe ʻoe i kēia inoa, akā e kamaʻilio maʻalahi kākou e pili ana iā ia a e hoʻomaopopo iā ia.

He aha ka Zellweger Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Zellweger Syndrome kahi maʻi genetic e kū mai ana i nā pēpē hānau hou. Ua kapa ʻia e nā kauka ʻo ia ka maʻi koʻikoʻi loa o nā maʻi ʻehā e pili ana i ka Zellweger spectrum. Hoʻopilikia ia i ka ʻōnaehana nerve a me ka metabolism (ke kaʻina hana o ka hoʻololi ʻana i ka meaʻai i ikehu) ma hope koke o ka hānau ʻana. Hiki iā ia ke hōʻino i ka lolo, ke akepaʻa, a me nā puʻupaʻa . Hiki iā ia ke hoʻopilikia i nā hana koʻikoʻi he nui i ke kino. ʻO kekahi inoa no kēia ʻo ia ka cerebrohepatorenal syndrome. ʻO ka ʻoiaʻiʻo, he maʻi koʻikoʻi kēia maʻi, ʻo ia hoʻi hiki ke hoʻoweliweli i ke ola.

He aha nā maʻi Zellweger Spectrum (ZSD)?

Ua kapa ʻia hoʻi kēia mau mea he 'peroxisomal biogenesis disorders'. Hoʻopilikia kēia mau maʻi i nā ʻāpana o kā mākou mau cell i kapa ʻia ʻo 'peroxisomes'. He mea nui kēia mau 'peroxisomes' no nā hana he nui i loko o ko mākou kino.

ʻO nā maʻi ʻē aʻe e pili ana i ka Zellweger spectrum:

• ʻO ka maʻi Heimler: ʻO kēia ke kumu o ka nalowale o ka lohe a me nā pilikia niho i nā pēpē he mau mahina a ʻōpiopio paha.
• ʻO ka maʻi Refsum pēpē: ʻO kēia ke kumu o ka hana pono ʻole ʻana o nā ʻiʻo o ka pēpē a hoʻopaneʻe i ka ulu ʻana, e like me ka hoʻomaka ʻana e hele.
• ʻO ka adrenoleukodystrophy neonatal: Hoʻopilikia kēia i ka lohe a me ka ʻike. Hoʻopilikia pū kekahi i ka lolo o ka pēpē, ke kaula iwi kuamoʻo, a me nā ʻiʻo.

ʻO wai ka mea e loaʻa ana i ka Zellweger syndrome?

Hoʻokumu ʻia kēia e kekahi mau loli (nā mutations) i loko o nā genes. I ka pololei, he maʻi autosomal recessive kēia. ʻO ke ʻano kēia e loaʻa wale i ka pēpē kēia maʻi inā hoʻoilina ʻo ia i ka gene kīnā mai ka makuahine a me ka makuakāne .

E noʻonoʻo i kēia ʻano, inā he mau "mea lawe" nā mākua ʻelua o kēia gene kīnā (ʻo ia hoʻi, ʻaʻole lākou i loaʻa ka maʻi, akā loaʻa iā lākou ka gene), e hana kā lākou mau keiki:

• Aia he 50% ka manawa e lilo ai lākou i mau mea lawe.
• Aia he 25% ka manawa e hānau ʻia ai me ka maʻi.
• Aia he 25% ka manawa e hānau ʻia ai me ke olakino a me ka ʻole o ka gene.

Pehea ka maʻamau o ka Zellweger syndrome?

He mea kākaʻikahi loa kēia.He maʻi. I hui pū ʻia me nā maʻi Zellweger spectrum ʻē aʻe, loaʻa kēia mau kūlana ma kahi o hoʻokahi i loko o 50,000 a i hoʻokahi i loko o 75,000 mau pēpē hānau hou. No laila, ʻaʻole ʻoe e lohe pinepine e pili ana i ia mea.

He aha ke kumu o ka maʻi Zellweger?

Hoʻokumu ʻia kēia e kahi mutation i loko o kekahi o nā genes 12 i kapa ʻia ʻo ka gene `PEX`. ʻO ke kumu maʻamau o kēia kūlana he mutation i loko o ka gene `PEX1`. Hoʻomalu kēia mau genes i nā `Peroxisomes`, he mea nui ia no ka hana maʻamau o kā mākou mau cell.

Ua like nā peroxisome me nā hale hana liʻiliʻi i loko o nā pūnaewele. Hoʻopau lākou i nā mea ʻawahia a me nā momona ʻino i loko o ke kino. He kuleana nui ko lākou i ka ulu ʻana o nā ʻāpana o ko kākou kino:

* Nā iwi

* Lolo

* Nā maka

* Puʻuwai

* Nā puʻupaʻa

* ʻAkepaʻa

* Nā aʻalolo

No laila e noʻonoʻo, inā ʻaʻole hana pono kēia mau 'peroxisomes', hoʻopilikia ia i kēlā me kēia ʻōkana a me kēlā me kēia ʻōnaehana.

He aha nā hōʻailona o ka Zellweger syndrome?

ʻIke pinepine ʻia kēia mau hōʻailona ma hope koke iho o ka hānau ʻana o ka pēpē. ʻIke nui nā kauka i kekahi mau hiʻohiʻona kikoʻī ma ka maka o ka pēpē . Eia kēia:

• He ākea ke alahaka o ka ihu.
• ʻO kahi o nā ʻili ʻili (Epicanthal folds) ma nā kihi o loko o nā maka.
• Ka hoʻopālahalaha ʻana i ka maka.
• Kūlana lae kiʻekiʻe.
• ʻAʻole ulu pono nā makamaka.
• Hoʻonui ʻia ka mamao ma waena o nā maka (me he mea lā ua mamao loa nā maka).

Ma waho aʻe o kēia mau hiʻohiʻona helehelena, hiki ke komo pū kekahi mau hōʻailona ʻē aʻe:

• Paʻakikī i ka hānai waiū: ʻAʻole hiki i ka pēpē ke omo pono.
• ʻO ke akepaʻa a me/a i ʻole ka spleen i hoʻonui ʻia: Hiki ke ʻike ʻia kēia ke nānā ke kauka i ka ʻōpū.
• Ke kahe koko ʻana o ka ʻōpū: Hiki ke loaʻa ke koko me ka luaʻi ʻana a i ʻole ka ʻōpala.
• Nā hemahema o ka lohe a me ka ʻike: ʻAʻole paha e pane pono ka pēpē i nā leo a i ʻole waho.
• Jaundice: Melemele o nā maka a me ka ʻili ma muli o ka hana pono ʻole o ke akepaʻa.
• Nā hopu ʻana: Hiki ke loaʻa nā ʻano like me ka hopu ʻana.
• Hoʻemi ʻia ka ulu ʻana o nā ʻiʻo a me ka paʻakikī i ka neʻe ʻana: ʻIke ʻia paha nā lālā o ke pēpē ua hemahema a ʻaʻole neʻe pono.

Pehea e ʻike ʻia ai ka maʻi Zellweger?

ʻO ka maʻamau, i ka wā e hānau ai kahi pēpē, kānalua ke kauka a kahu maʻi paha i kēia ke ʻike lākou i nā hiʻohiʻona kikoʻī ma ka maka o ka pēpē. A laila hana lākou i nā hoʻokolohua aʻe e hōʻoia i ka hōʻailona:

• Nā hoʻāʻo koko a me ka mimi:Inā nui loa nā mea i loko o ke koko a i ʻole ka mimi, ʻoiai nā molekala momona, he hōʻailona paha ia o ka maʻi Zellweger. No ka mea, ʻaʻole hana pono nā peroxisomes, ʻaʻole e wāwahi pono ʻia kēia mau mea e ke kino.
• Nā scan: Hana ʻia kahi hoʻāʻo `Ultrasound` e nānā i ka nui o nā ʻōpū o loko e like me ke akepaʻa a me nā puʻupaʻa a pehea lākou e hana ai. He mea nui nō hoʻi ka scan `MRI` (Magnetic Resonance Imaging) o ka lolo i ke kaʻina hana diagnostic.
• Nā hoʻāʻo hoʻoilina: Hiki ke lawe ʻia kahi hāpana koko e hoʻoholo ai inā he mau mutations i loko o ka gene PEX. ʻO kēia ka mea e hōʻoia i ka hōʻailona .

Hiki ke ʻike ʻia ka maʻi Zellweger ma mua o ka hānau ʻana o ke pēpē?

ʻAe, i kekahi mau hihia hiki nō. Inā ʻike ʻia nā mākua ʻelua he mau mea lawe o ka gene `PEX` kīnā, ua pilikia ka pēpē i ka loaʻa ʻana o ke kūlana. I kēlā hihia, hiki i nā kauka ke nānā i ke kūlana ma ka hana ʻana i nā hoʻokolohua koko a i ʻole nā ​​scan ʻoiai e ulu ana ka pēpē i loko o ka ʻōpū.

He aha nā pilikia o ka Zellweger Syndrome?

ʻAʻole hiki i nā pēpē me kēia maʻi ke lohe, ʻike, a ʻai paha. Inā ʻaʻole i ulu pono ko lākou mau ʻiʻo, ʻaʻole paha lākou e hiki ke neʻe. I ka manawa pinepine, loaʻa i kēia mau pēpē nā pilikia koʻikoʻi e like me ka paʻakikī o ka hanu ʻana, ka hāʻule ʻana o ke akepaʻa, a i ʻole ke kahe ʻana o ke koko i loko o ke ala ʻai .

Pehea e mālama ʻia ai ka maʻi Zellweger?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau a lāʻau lapaʻau paha no ka maʻi Zellweger . Hiki i kekahi mau lāʻau lapaʻau ke kōkua i ka hōʻoluʻolu ʻana i nā hōʻailona a hoʻoluʻolu iki i ka pēpē. Eia nō naʻe, ʻaʻohe ala e mālama ai i ke kumu o ke ʻano.

Eia kekahi laʻana, inā pilikia ka pēpē i ka ʻai ʻana, hiki ke hoʻohana ʻia kahi ʻōmole hānai. Eia naʻe, ʻaʻole loa kēia e ʻae i ka pēpē e ʻai maʻamau iā lākou iho. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻolilo ʻana i ka pēpē i mea ʻeha a ʻoluʻolu ʻole e like me ka hiki.

He aha ka wā e hiki mai ana o nā pēpē me ka Zellweger syndrome?

He mea kaumaha ke lohe ʻia, akā ʻo nā pēpē me ka maʻi Zellweger e ola pinepine ana ma lalo o 12 mau mahina . ʻO ia hoʻi, ʻaʻole lākou e ola a hiki i hoʻokahi makahiki. Eia nō naʻe, ʻoi aku ka maikaʻi o ke ola o nā keiki me nā maʻi ʻē aʻe ma ka Zellweger spectrum, e like me ka maʻi Refsum a i ʻole ka maʻi Heimler. Hiki paha iā lākou ke ola a hiki i ka wā makua.

Hiki ke pale ʻia ka maʻi Zellweger?

ʻO ka mea pōʻino, ʻaʻohe ala e pale aku ai i kēia no ka mea he maʻi hoʻoilina ia. Eia nō naʻe, inā ua loaʻa i kekahi o kou ʻohana ka maʻi Zellweger a i ʻole nā ​​​​maʻi ʻē aʻe ma ke ʻano spectrum, he mea kōkua paha ke aʻo ʻana i nā hoʻoilina.Hiki iā ʻoe ke noʻonoʻo e loaʻa iā ia. Hiki i ke kākā'ōlelo genetic ke loiloi i kou pilikia o ka hoʻoili ʻana i ka maʻi i kāu mau keiki a moʻopuna paha.

He aha inā he mutation koʻu i loko o kaʻu mau genes e pili ana i ka Zellweger syndrome?

Inā ʻike ʻoe he mea lawe ʻoe i nā genes e pili ana i kēia maʻi, he mea nui loa ke aʻo ʻana i nā genetics. Ma o kēia, hiki iā ʻoe ke loiloi i nā pilikia āu e kū nei i ka loaʻa ʻana o nā keiki.

Eia kekahi, inā he pēpē kāu me ka maʻi Zellweger, e kōkua kahi hui o nā neonatologists ( nā kauka loea i nā pēpē hānau hou) iā ʻoe e koho i ka hoʻolālā mālama maikaʻi loa no kāu pēpē. Mai noho hoʻokahi i kēia manawa, e kiʻi i ke kākoʻo mai kāu mau kauka a me kou ʻohana.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

He maʻi laha ʻole a koʻikoʻi hoʻi ka Zellweger Syndrome (ZS) e hoʻopilikia ana i nā pēpē hānau hou. Hiki iā ia ke hōʻino i nā ʻōpū koʻikoʻi e like me ke akepaʻa, nā puʻupaʻa, a me ka lolo. ʻAʻole ola pinepine nā pēpē me kēia maʻi ma mua o hoʻokahi makahiki.

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ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, aia nā lāʻau lapaʻau e kāohi i nā hōʻailona a hoʻoluʻolu i ka pēpē e like me ka hiki. Inā loaʻa i kekahi o kou ʻohana kahi moʻolelo o kēia maʻi, e ʻimi i ke aʻo ʻana i nā ʻano genetic. Eia kekahi, pono nā mākua e kū nei i kēia maʻi i ke kākoʻo nui loa o nā kauka a me ka ʻohana.

Manaʻolana wau he mea pono kēia ʻike iā ʻoe. He mea nui loa i nā mea a pau ke ʻike i ia mau mea.

ʻO ka Zellweger Syndrome, maʻi hoʻoilina, keiki hānau hou, peroxisomes, nā genes PEX, maʻi laha ʻole, olakino keiki, nā maʻi hoʻoilina