He aha nā cystinosis a me nā hōʻailona nui

Anter

• Nā hōʻailona nui
• ʻO Cystinosis i nā puʻupaʻa
• ʻO Cystinosis i nā maka
• He aha ke kumu o cystinosis
• Pehea e hana ai i ka lāʻau

ʻO Cystinosis kahi maʻi kūlohelohe kahi e hōʻiliʻili ai ke kino i ka cystine nui, kahi amino acid ʻo ia, ke ʻoi aku ia i loko o nā hunaola, hana i nā aniani e pale ai i ka hana pololei o nā hunaola, a no laila, hiki i kēia maʻi ke hoʻopili i nā ʻano o ke kino. , e māhele ʻia nei i 3 ʻano nui:

• Nā cystinosis Nepropathic: pili nui i nā puʻupaʻa a ʻike ʻia i loko o ka pēpē, akā hiki ke hoʻololi i nā ʻāpana ʻē aʻe o ke kino e like me nā maka;
• Cystinosis waena: like ia me nephropathic cystinosis akā hoʻomaka e hoʻomohala i ka wā ʻōpio;
• ʻO Ocular cystinosis: ʻo ia ka ʻano ʻoi aku ka koʻikoʻi ma luna o nā maka.

ʻO kēia kahi maʻi genetical i hiki ke ʻike ʻia i ka mimi a me ka hoʻāʻo ʻana o ke koko ma ke ʻano he pēpē, ma kahi o 6 mau makahiki o ka makahiki. Manaʻo paha nā mākua a me ka pediatrician i ka maʻi inā he make wai mau ka pēpē, mimiki nui a luaʻi ʻole a loaʻa ʻole ke kaupaona kūpono, me ka manaʻo ʻo Fanconi maʻi.

Nā hōʻailona nui

Hoʻololi nā ʻōuli o ka cystinosis e like me ka mea i loli ʻia, a hiki ke hoʻopili ʻia:

ʻO Cystinosis i nā puʻupaʻa

• Hoʻonui i ka make wai;
• Hoʻonui i ka makemake e pee;
• Māluhiluhi maʻalahi;
• Hoʻonui i ke kahe o ke koko.

ʻO Cystinosis i nā maka

• ʻEha ma nā maka;
• ʻIke i ka mālamalama;
• ʻIke paʻakikī, hiki ke ulu i makapō.

Hoʻohui ʻia, nā hōʻailona ʻē aʻe e like me ka paʻakikī i ka ale ʻana, hoʻolohi hoʻomohala ʻana, ka luaʻi pinepine ʻana, ka constipation a i ʻole nā ​​pilikia e like me ka maʻi kōkō a me nā loli o ka hana thyroid, no ka laʻana.

He aha ke kumu o cystinosis

ʻO Cystinosis kahi maʻi i hoʻokumu ʻia e ka hoʻololi ʻana i ka ʻohana CTNS, ʻo ia ke kuleana no ka hana ʻana o kahi protein i ʻike ʻia ʻo cystinosine. Lawe pinepine kēia protein i ka cystine mai loko mai o nā pūnaewele, e pale iā ia mai ke kūkulu ʻana i loko.

Ke kū nei kēia kūkulu, hōʻino ʻia nā hunaola olakino a holo ʻole i ka hana maʻamau, e hōʻino ana i nā meaola holoʻokoʻa i ka manawa.

Pehea e hana ai i ka lāʻau

Hana pinepine ʻia ka lapaʻau ʻana mai ka manawa e ʻike ʻia ai ka maʻi, hoʻomaka me ka hoʻohana ʻana i nā lāʻau, e like me cysteamine, ka mea e kōkua ai i ke kino e hoʻopau i kekahi o ka cystine keu. Eia nō naʻe, ʻaʻole hiki ke kāohi loa i ka holomua o ka maʻi a, no laila, he mea pono pinepine ia e loaʻa i kahi transplant puʻupaʻa, ke hoʻololi ka maʻi i ka ʻokena i kahi ala koʻikoʻi loa.

Eia nō naʻe, ke loaʻa ka maʻi i loko o nā lālā ʻē aʻe, ʻaʻole hoʻōla ke transplant i ka maʻi a, no laila, pono paha e hoʻomau i ka hoʻohana ʻana i ka lāʻau.

Eia kekahi, pono i kekahi mau hōʻailona a me nā pilikia i kahi lapaʻau kūikawā, e like me ka maʻi kōkō a i ʻole nā ​​maʻi thyroid, i mea e hoʻomaikaʻi ai i ke ola o nā keiki.