Ke hōʻiliʻili nei anei ʻoe i ka cystine i loko o nā hunaola o kou kino? Ua kapa ʻia kēia he cystinosis!

E noʻonoʻo, he aha ka mea e hana ʻia inā hoʻomaka kahi waikawa amino i kapa ʻia ʻo `(cystine)` (cysteine) e hōʻiliʻili i loko o nā ʻāpana liʻiliʻi o ko kākou kino? ʻO ia ke kūlana i kapa ʻia ʻo `(Cystinosis). He maʻi genetic laha ʻole kēia i ʻike pinepine ʻole ʻia, akā pono e manaʻo ʻia he mea nui loa. Ke hōʻiliʻili nui ʻia ʻo `(cystine)` i loko o nā ʻāpana, hiki ke hōʻino ʻia kēlā mau ʻāpana. I ka pololei, ʻo kēia `(cystine)` ke kumu o nā kristal liʻiliʻi e hana i loko o nā ʻāpana, a i ka wā e hōʻiliʻili ai lākou, hoʻopilikia lākou i nā ʻano kino a me nā ʻiʻo like ʻole i loko o ko kākou kino. E kamaʻilio kākou e pili ana i kēia `(Cystinosis)` me ka kikoʻī a maʻalahi i kēia lā, ʻae?

He aha ka Cystinosis? E hoʻomaopopo pono kākou!

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ka cystinosis. ʻO ka mea e hana ʻia ma kēia, ʻo ia ka hōʻiliʻili ʻana o ka waikawa amino `(cystine)` (cysteine) i loko o kā mākou mau cell. ʻIke ʻoe, he mea nui loa nā waikawa amino no ko mākou kino. Eia naʻe, inā nui loa kēia `(cystine)` i loko o nā cell, he mea ʻino ia i nā cell. Ma muli o kēia keu `(cystine)`, hana ʻia nā kristal liʻiliʻi e like me nā mea i loko o nā cell. Hōʻiliʻili mālie kēia mau kristal a hoʻomaka e hōʻino i nā ʻano kino a me nā ʻiʻo like ʻole i loko o ko mākou kino.

Hoʻopilikia pinepine ka Cystinosis i nā puʻupaʻa a me nā maka . Eia nō naʻe, hiki iā ia ke hōʻino i ka lolo, nā ʻiʻo, ke akepaʻa, ka thyroid, ka pancreas, a i nā kāne, nā testicles.

He mea kākaʻikahi loa kēia, ʻo ia hoʻi, hoʻopilikia ia i hoʻokahi i loko o hoʻokahi tausani kānaka. Eia nō naʻe, he maʻi koʻikoʻi loa ia a mau loa ke ola . Eia nō naʻe, inā ʻike mua ʻia a mālama pono ʻia, hiki ke kāohi nui ʻia ka holomua a me ka ʻino ʻana o ka maʻi. Eia nō naʻe, nui ka poʻe e loaʻa i ka maʻi puʻupaʻa hope loa a pono i kahi hoʻoili puʻupaʻa.

Aia kekahi mau ʻano cystinosis like ʻole?

ʻAe, ʻekolu ʻano nui o ka cystinosis. Hoʻokaʻawale ʻia kēia mau ʻano ma muli o ka makahiki i ʻike mua ʻia ai nā hōʻailona (ʻo ia hoʻi ka wā i hoʻomaka ai ka maʻi) a me ke koʻikoʻi o nā hōʻailona.

1. ʻO ka cystinosis nephropathic (ʻano pēpē)

ʻO kēia ke ʻano maʻamau . Ma kahi o 95% o ka poʻe me ka cystinosis i loaʻa i kēia ʻano. ʻO ia nō hoʻi ke ʻano koʻikoʻi loa . Ua kapa ʻia hoʻi ʻo ia he cystinosis infantile.

ʻO nā pēpē me kēia `(Nephropathic cystinosis)` e loaʻa i kahi maʻi kūikawā e hōʻino ana i nā puʻupaʻa . Ua kapa ʻia ʻo `(renal Fanconi syndrome)`. Ma kēia ʻano, ʻaʻole i komo pono nā minelala a me nā meaʻai ʻē aʻe e pono ai ko mākou kino i loko o ke koko, akā ua hoʻokuʻu ʻia i loko o ka mimi. E noʻonoʻo, i ka wā e nalowale ai ke kino o kahi keiki liʻiliʻi i nā mea e pono ai ma kēia ʻano,Ua lohi ka ulu ʻana o ka pēpē, nāwaliwali nā iwi, hiki ke kūlou (ua kapa ʻia kēia he "rickets"), a he nui nā pilikia ʻē aʻe e hiki mai ana.

ʻO ka maʻamau, i ka piha ʻana o nā makahiki ʻelua , hoʻomaka nā kristal cystine e hana i loko o ka cornea o nā maka o ke keiki. Hōʻiliʻili kēia mau kristal, a i ka hala ʻana o ka manawa, lilo nā maka i mea maʻalahi i ka mālamalama (photophobia). Hiki i kēia ke hōʻeha nui i nā maka a me ka ʻoluʻolu ʻole . Ua like ia me ka uliuli o nā maka ke hōʻike ʻia i ka lā.

Pono maoli nā keiki me kēia `(Nephropathic cystinosis)` i kahi hoʻoili puʻupaʻa. Inā ʻaʻole mālama ʻia, hiki i nā puʻupaʻa ke lilo i mea hana ʻole loa i ka piha ʻana o nā makahiki 10. Eia nō naʻe, inā mālama pono ʻia, hiki i kēia mau keiki ke ola a hiki i ka wā makua me ke ʻano ola maikaʻi.

2. Cystinosis waena (ʻano hoʻomaka ʻōpiopio)

Ua kapa ʻia kēia he cystinosis ʻōpio a ʻōpio paha. Ua like nā hōʻailona me nā cystinosis pēpē, akā ʻike ʻia nā hōʻailona i ka wā kamaliʻi a i ʻole ka wā ʻōpio . Hiki ke akahai nā hōʻailona a i ʻole e lilo i mea koʻikoʻi i ka hala ʻana o ka manawa.

ʻO ka poʻe me kēia ʻano cystinosis e pono ai kahi hoʻoili puʻupaʻa. Inā ʻaʻole mālama ʻia, hiki i nā puʻupaʻa ke lilo i mea hana ʻole loa i loko o 15-25 mau makahiki .

3. ʻO ka cystinosis non-nephropathic (ke ʻano e hoʻopilikia wale i nā maka)

Ua kapa ʻia kēia he benign cystinosis, a i ʻole ocular cystinosis. Hoʻopilikia wale kēia ʻano i nā maka . Hoʻokumu ʻia nā kristal cystine i loko o ka cornea o ka maka, e hoʻoulu ai i ka photophobia. Eia nō naʻe, ʻaʻole i loaʻa i ka hapa nui o ka poʻe me kēia ʻano ka hōʻino ʻana o nā puʻupaʻa a i ʻole nā ​​​​hōʻailona ʻē aʻe .

Hiki ke ʻokoʻa ka makahiki i ʻike ʻia ai kēia maʻi (Non-nephropathic cystinosis), ʻoiai ʻaʻole i maʻamau nā hōʻailona. Eia nō naʻe, pili pinepine ia i nā pākeke waena.

ʻO wai ka mea e loaʻa ana i ka cystinosis?

He maʻi hoʻoilina ka Cystinosis e hiki ke hoʻopilikia i kekahi . Hoʻoilina ʻia ka maʻi ma ke ʻano autosomal recessive. ʻO ke ʻano kēia, pono nā mākua ʻelua e lawe i ka gene mutated no ka maʻi . Inā he mau mea lawe nā mākua ʻelua o ka gene mutated (ʻo ia hoʻi, ʻaʻohe o lāua mau hōʻailona, ​​akā loaʻa iā lāua ka gene), he 25% (hoʻokahi i loko o ʻehā) ka manawa e loaʻa ai kahi keiki me ka cystinosis.

Pehea ka maʻamau o kēia maʻi?

He maʻi laha ʻole ka Cystinosis. Ma ka honua holoʻokoʻa, hoʻokahi wale nō i loko o 100,000 a 200,000 mau hānau ʻana e hoʻopilikia ai.

Pehea ka hopena o ka cystinosis i ko mākou kino?

He maʻi ʻo Cystinosis no ka hui o nā maʻi i kapa ʻia ʻo `(lysosomal storage disorder)`. E noʻonoʻo, i loko o kā mākou mau cell aia nā organelles liʻiliʻi i kapa ʻia ʻo `(lysosomes)` . Ua like kēia me nā ʻōpala o ke cell. Hoʻopau lākou i nā meaʻai e like me nā kalapona, nā protein, a me nā momona. Hana kekahi mau protein ma ke ʻano he `(enzymes)` a kōkua i ke kino e omo i kēia mau meaʻai. Hana kekahi mau protein ʻē aʻe ma ke ʻano he `(transporters)`. ʻO ia hoʻi, lawe kēia mau mea lawe i ke koena `(cystine)` mai kēlā mau mea i wāwahi ʻia mai loko mai o nā lysosomes.

I kēia manawa, inā nalowale kekahi o kēlā mau protein halihali, ʻaʻole hiki i ka `(cystine)` ke puka i waho o nā lysosomes a hoʻomaka e hōʻiliʻili i loko o nā cell. ʻO ia ka manawa e hana ai ka `(cystine)` i nā puʻupuʻu, kahi e hōʻino ai i nā ʻōpū.

He aha nā hōʻailona o ka cystinosis?

ʻOkoʻa nā hōʻailona a me ko lākou koʻikoʻi ma muli o ka makahiki i hoʻomaka ai ka maʻi a me ka wā i ʻike ʻia ai.

ʻO nā hōʻailona o ka cystinosis nephropathic (ʻano pēpē) e hoʻomaka pinepine e ʻike ʻia ma waena o 6 a me 18 mau mahina o ka makahiki , i ka wā e hōʻino ʻia ai nā puʻupaʻa. Eia nā hōʻailona nui:

• Ka makewai nui (polydipsia).
• Ka nui o ka mimi ʻana (polyuria).
• Nā hoʻololi ʻole o ke kaulike electrolyte i loko o ke kino.
• Ka luaʻi ʻana.
• Ka maloʻo ʻana o ka wai.
• Kuni.

ʻO nā hōʻailona ʻē aʻe paha:

• Ka nāwaliwali o nā iwi, nā rickets.
• Ka holomua ʻole.
• Ka ʻeha a i ʻole ke ao ʻana o ka cornea o nā maka.
• ʻIke i ka mālamalama (photophobia).
• Ka hemahema o ka ʻike.
• Ka paʻakikī i ke ale ʻana (dysphagia).

Ua like nā hōʻailona o ka cystinosis waena (ʻano ʻōpio) me nā ʻano pēpē. Eia nō naʻe, hoʻomaka lākou e ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā ʻōpio. Eia kekahi, ʻaʻole paha e ʻoi aku ka koʻikoʻi o nā hōʻailona. ʻO nā hōʻailona ʻē aʻe e ʻike ʻia ma kēia ʻano:

• Luhi, luhi.
• Ka nāwaliwali o nā ʻiʻo.
• Maʻi ʻiʻo `(myopathy)` (myopathy).
• Kino pōkole.
• Ka lohi o ka wā ʻōpiopio.
• Ka hānau ʻole ʻana.

Hoʻopilikia wale ka cystinosis ocular (cystinosis non-nephropathic) i ka cornea o ka maka. ʻO ka photophobia wale nō ka hōʻailona . ʻAʻohe hōʻailona e pili ana i ka puʻupaʻa.

He aha nā kumu o ka cystinosis?

ʻO kēia ke kumu o nā hoʻololi genetic i loko o ka gene i kapa ʻia ʻo CTNS.Ke kuhikuhi nei kēia gene `(CTNS)` i ko mākou kino e hana i kahi protein i kapa ʻia ʻo `(cystinosin)`. ʻO `(Cystinosin)` ka protein transporter i ʻōlelo ʻia ma mua. ʻO ia hoʻi, ʻo kāna hana ka lawe ʻana i ka waikawa amino `(cystine)` mai loko mai o nā lysosomes.

No laila, i ka wā e loaʻa ai kahi mutation i loko o ka gene `(CTNS)`, aia kahi kīnā i loko o ka protein `(cystinosin)`. A laila, ʻaʻole hiki i ka `(cystine)` ke puka i waho o nā lysosomes a hoʻomaka e hōʻiliʻili. ʻO ia ka manawa e hoʻokumu ʻia ai nā cysts a hōʻino i nā cell i loko o nā ʻōpū.

Ua ʻōlelo ʻia no ka manawa lōʻihi ua hoʻoilina ʻia kēia ma ke ʻano "autosomal recessive pattern". ʻO ke ʻano kēia, pono nā mākua ʻelua e lawe i kēia gene mutated (ʻaʻohe o lāua mau hōʻailona) . Inā wale nō e hoʻoilina nā mākua ʻelua i kēia gene mutated e loaʻa ai i ke keiki kēia maʻi.

Pehea e ʻike ʻia ai ka Cystinosis?

E nīnau aku kāu kauka iā ʻoe e pili ana i kou mau hōʻailona a me ka mōʻaukala olakino ʻohana. A laila e hana ʻo ia i kahi hoʻokolokolo kino a kauoha i kekahi mau hoʻokolohua e ʻike i ke kūlana.

He aha nā hoʻokolohua e hana ʻia nei no kēia?

Hiki i ke kauka ke hana i kēia mau hoʻokolohua:

• Hoʻāʻo koko: Lawe ʻia kahi hāpana o kou koko a nānā ʻia ka pae o ka cystine i loko o nā hunaola koko keʻokeʻo.
• Ka hoʻāʻo ʻana i ka genetics: E nānā kahi geneticist no nā mutations i kāu gene (CTNS).
• Urinalysis: Lawe ʻia kahi hāpana mimi a nānā ʻia no nā minelala keu, nā meaʻai, nā paʻakai, a me nā waikawa amino.
• Ka hoʻokolokolo maka: E hoʻohana kekahi ophthalmologist i kahi microscope kūikawā (kukui slit) e ʻimi i nā kristal cystine i loko o kou cornea.

Inā hāpai ʻoe a loaʻa i kekahi o kou ʻohana ka cystinosis, a ua ʻike ʻia ʻoe a me kāu hoa he mau mea lawe, hiki ke hana ʻia nā hoʻāʻo prenatal, e like me ka amniocentesis, e ʻike ai inā loaʻa i kāu pēpē ka maʻi . Pili kēia i ka lawe ʻana i kahi laʻana o nā cell mai ka wai amniotic e hoʻopuni ana i ka pēpē a me ka nānā ʻana i nā pae cystine.

Hiki ke hoʻohana ʻia kekahi hoʻāʻo ʻē aʻe i kapa ʻia ʻo "chorionic villus sampling". Hoʻāʻo kēia i nā pūnaewele i loko o ka placenta.

He aha nā lāʻau lapaʻau no ka cystinosis?

ʻO ka lāʻau lapaʻau i kapa ʻia ʻo Cysteamine

ʻO ka lāʻau lapaʻau nui no ka cystinosis he lāʻau i kapa ʻia ʻo cysteamine . He mea hoʻopau cystine kēia. ʻO ia hoʻi, hoʻemi ia i nā pae o ka cystine i loko o kāu mau cell.

Inā hoʻomaka mua ʻia kēia lāʻau lapaʻau `(cysteamine)`, hiki ke kaohi nui ʻia a hoʻopaneʻe ʻia ka hōʻino ʻana o nā puʻupaʻa.Ua kōkua kēia lāʻau lapaʻau i ka hoʻopaneʻe ʻana i ka pono no ka hoʻoili ʻana i nā puʻupaʻa. Ua hiki i kekahi mau keiki ke hoʻopaneʻe i ka hoʻoili ʻana i nā puʻupaʻa a hiki i ka wā makua. Eia kekahi, hoʻomaikaʻi kēia lāʻau lapaʻau i ka ulu ʻana o nā keiki me ka maʻi.

ʻElua ʻano o `(Cysteamine)`: `(Cystagon™)` a me `(Procysbi™)` (he mau inoa inoa kēia). Pono e lawe ʻia `(Cystagon™)` i kēlā me kēia ʻeono hola. Loaʻa i ka `(Procysbi™)` (no ka poʻe ma luna o 6 mau makahiki) kahi uhi kūikawā, no laila hiki ke lawe ʻia i kēlā me kēia 12 hola.

ʻAʻole mālama ka lāʻau lapaʻau maʻamau ʻo `(cysteamine)` i nā kristal `(cystine)` i loko o ka cornea o ka maka. No kēia, aia ʻelua ʻano o nā kulu maka `(cysteamine)` i ʻāpono ʻia e ka US Food and Drug Administration `(FDA): `(Cystaran™)` a me `(Cystadrops™)`. Pono e hoʻopili ʻia kēia mau kulu ma kahi o hoʻokahi hola i kou wā e ala ana. Hoʻoheheʻe lākou i nā kristal i loko o ka cornea a hoʻemi i ka ʻike i ka mālamalama.

Nā lāʻau lapaʻau ʻē aʻe

Pono paha nā keiki me ka cystinosis i nā lāʻau lapaʻau ʻē aʻe, ma muli o kā lākou mau hōʻailona. ʻO nā lāʻau lapaʻau no ka maʻi Fanconi:

• E inu i ka nui o ka wai a me nā electrolytes (e pale i ka nalowale nui o ka wai mai ke kino).
• Lāʻau lapaʻau e mālama ai i ke kaulike paʻakai o ke kino.
• He lāʻau lapaʻau e hoʻoponopono ai i ke kīnā i ka omo ʻana o ka phosphate e nā puʻupaʻa.

ʻO nā lāʻau ʻē aʻe no ka cystinosis:

• Ka lāʻau lapaʻau no ka hormone ulu.
• Inā loaʻa iā ʻoe ka maʻi diabetes e pili ana i ka insulin, pono ʻoe i ka insulin.
• Hoʻohana ʻia ka Testosterone no nā kāne me ka hypogonadism, kahi kūlana i hana ʻole ai nā testicles.
• Ka hoʻōla ʻōlelo a me ka ʻōlelo.
• Ke aʻo ʻana i nā ʻano hoʻoilina.

Pono paha kekahi mau keiki i pilikia i ka ʻai ʻana e hānai ʻia ma o kahi ʻōmole (ʻōmole gastronomy). Hoʻohana ʻia kēia ʻōmole e hāʻawi i ka meaʻai kūpono a hāʻawi i ka lāʻau lapaʻau.

Hiki ke mālama ʻia ka cystinosis ocular, ka mea e hoʻopilikia wale ana i nā maka, ma nā ʻano penei:

• Ke pale nei i ka mālamalama ʻālohilohi.
• Ke komo nei i nā aniani maka.
• Ka mālama ʻana i nā maka i ka pulu.
• I ka liʻiliʻi loa, pono paha kahi hoʻoili corneal.

Hoʻoili puʻupaʻa

ʻOiai me ka ʻike mua ʻana a me ka mālama ʻana, hiki i ka poʻe me ka cystinosis nephropathic a me ka waena ke loaʻa i ka hāʻule ʻana o ka puʻupaʻa. I ka wā mua, hiki i kāu kauka ke mālama i ka hāʻule ʻana o ka puʻupaʻa me ka dialysis. ʻO ka Dialysis kahi mīkini e lawe i kekahi o nā hana a kou mau puʻupaʻa. Kānana ia i nā huahana ʻōpala mai kou koko a kōkua i ka mālama ʻana i nā pae kūpono o kekahi mau kemika i loko o kou kino. Eia nō naʻe, ʻaʻole hiki ke hoʻihoʻi ʻia ka hāʻule ʻana o ka puʻupaʻa, a i ka hopena e pono ai kahi hoʻoili puʻupaʻa .

He kūleʻa loa nā hoʻoili puʻupaʻa no ka poʻe me ka cystinosis. ʻAʻole hōʻiliʻili ka cystine i kahi puʻupaʻa i hāʻawi ʻia . Eia nō naʻe, hiki i ka cystine ke hōʻiliʻili i loko o nā ʻāpana ʻē aʻe o kou kino. No laila, pono ʻoe e lawe i ka lāʻau lapaʻau no ke koena o kou ola .

Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?

He ʻala ʻino iki ka lāʻau lapaʻau `(cysteamine)` a he ʻono ʻoluʻolu ʻole . No laila, hiki i kekahi poʻe ke loaʻa i ka nausea, ka luaʻi, a me ka ʻāʻī ʻana i ka puʻuwai i ka wā e lawe ai i kēia lāʻau. Hiki i ka `(cysteamine)` ke hana i ka nui o ka waikawa o ka ʻōpū. Lawe kekahi poʻe i nā lāʻau lapaʻau e like me `(proton pump inhibitors)` e hōʻemi i ka waikawa o ka ʻōpū. Hiki i kēia ke hōʻemi i ko lākou mau hōʻailona gastrointestinal. Hiki i ka `(cysteamine)` ke hana i ka hanu ʻino `(halitosis)` a me ka hanu ʻino.

Hiki ke pale ʻia ka Cystinosis?

He maʻi hoʻoilina ka Cystinosis, no laila ʻaʻole hiki ke pale ʻia . Inā hāpai ʻoe a i ʻole e hoʻolālā ana e hāpai, makemake paha ʻoe e noʻonoʻo i ka hoʻāʻo hoʻoilina e ʻike ai inā pilikia kāu pēpē i ka loaʻa ʻana o ka maʻi.

He aha ka manaʻo no kekahi me ka cystinosis? / Pehea ka lōʻihi o ko lākou ola ʻana?

I kekahi manawa, he maʻi make ka cystinosis nephropathic i nā keiki ʻōpio. Akā i kēia lā, me ka hoʻomohala ʻana o ka lāʻau lapaʻau cysteamine a me ka holomua o ka hoʻoili ʻana o nā puʻupaʻa, ua hoʻolōʻihi ʻia ke ola o ka poʻe me ka cystinosis a hiki i ka wā makua . Ola kekahi poʻe a ʻoi aku ma mua o 50 mau makahiki.

He mea nui ka ʻike mua ʻana i ka cystinosis. Me ka mālama pono ʻana, hiki ke kāohi ʻia ka maʻi. Inā ʻaʻole mālama ʻia, e loaʻa i nā keiki me ka cystinosis ka hāʻule ʻana o nā puʻupaʻa i ka piha ʻana o nā makahiki he 10. ʻOiai me ka mālama ʻia ʻana, e loaʻa i nā keiki he nui ka hāʻule ʻana o nā puʻupaʻa i ka wā kamaliʻi a i ʻole ka wā ʻōpio. Pono kēia i ka dialysis a ma hope he hoʻoili puʻupaʻa.

Inā ʻoe e lawe i ka cysteamine, pono ʻoe e hoʻomau i ka lawe ʻana iā ia no ke ola . Ua hōʻike ʻia e ka noiʻi hiki iā ia ke pale aku i nā pilikia he nui o ka cystinosis i pili ʻole i nā puʻupaʻa.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

He maʻi hoʻoilina ka Cystinosis e hiki ai ke hoʻoulu i nā ʻano hōʻailona like ʻole. Inā ʻike koke ʻia a mālama koke ʻia, hiki ke kāohi nui ʻia ka holomua o ka maʻi . I ka wā ma mua he make i nā keiki ʻōpio, hiki ke mālama ʻia kēia maʻi me ka lāʻau lapaʻau. ʻOiai me ka lāʻau lapaʻau, hiki i ka poʻe me ka cystinosis ke loaʻa i ka hāʻule ʻana o ka puʻupaʻa a koi ʻia kahi hoʻoili puʻupaʻa. Eia nō naʻe, ola maikaʻi ka poʻe me ka maʻi a hiki i ka wā makua.

Inā loaʻa iā ʻoe a i ʻole kekahi mea āu i ʻike ai i kēia mau hōʻailona, ​​​​he mea nui loa e ʻimi koke i ke kōkua lapaʻau.Mai hopohopo, akā he mea maikaʻi no nā kānaka a pau ke ʻike i nā mea e like me kēia.

` cystinosis, cystine, maʻi puʻupaʻa, maʻi hoʻoilina, Fanconi syndrome, cysteamine, maʻi puʻupaʻa, maʻi hoʻoilina, olakino keiki