Cystinuria

Anter

• He aha nā hōʻailona o cystinuria?
• He aha ke kumu o cystinuria?
• ʻO wai ka makaʻu iā cystinuria?
• Pehea i ʻike ʻia ai ka cystinuria?
• Hōʻiliʻili mimi he 24 mau hola
• Pyelogram huhū
• Scanner CT ʻōpū
• Urinalysis
• He aha nā pilikia o cystinuria?
• Pehea e mālama ai i ka cystinuria? | Lapaʻau
• Hoʻololi nā meaʻai
• Ke hoʻoponopono nei i ke kaulike pH
• Nā Lapaʻau
• ʻOki kino
• He aha ka manaʻo lōʻihi?
• Pehea e pale ai i ka cystinuria?

He aha ka cystinuria?

ʻO Cystinuria kahi maʻi i hoʻoilina ʻia e hana i nā pōhaku i hana ʻia i ka cystine amino acid i loko o nā puʻupaʻa, ka pūpū, a me nā ureter. Hoʻoili ʻia nā maʻi hoʻoilina mai nā mākua a hiki i nā keiki ma o ka hemahema i kā lākou ʻāpana. No ka loaʻa ʻana o cystinuria, pono i kahi kanaka ke hoʻoilina i ka hemahema mai nā mākua ʻelua.

ʻO ka hemahema i loko o ka ʻāpana ke kumu e hōʻiliʻili ka cystine i loko o nā puʻupaʻa, ʻo ia nā lālā e kōkua i ka hoʻoponopono ʻana i nā mea e hele a i waho o kou kahe koko. He nui nā hana a nā puʻupaʻa, e like me:

• hoʻi hou i nā mineral a me nā protein i loko o ke kino
• kānana i ke koko e hoʻoneʻe i nā ʻōpala ʻawahia
• e hana ana i ka mimi e kipaku i ka ʻōpala mai ke kino

I kekahi mea i loaʻa ka cystinuria, kūkulu ka cystine amino acid a hana i nā pōhaku ma kahi o ka hoʻi ʻana i ke kahe o ke koko. Hiki i kēia mau pōhaku ke paʻa i nā puʻupaʻa, ka ʻai, a me nā ureter. Hiki ke hōʻeha loa kēia a hiki i ka hele ʻana o nā pōhaku i ka urination. Pono e hemo i nā pōhaku nui loa.

Hiki i nā pōhaku ke hana hou i nā manawa he nui. Loaʻa nā mālama e mālama i ka ʻeha a pale i nā pōhaku hou mai ke kūkulu ʻana.

He aha nā hōʻailona o cystinuria?

ʻOiai ʻo cystinuria kahi ola o ke ola, ʻike pinepine ʻia nā ʻōuli i nā ʻōpio ʻōpio, e like me kahi noiʻi i ka European Journal of Urology. Nui nā hihia i nā pēpē a me nā ʻōpio. Pākuʻi ʻia paha nā ʻōuli:

• koko i ka mimi
• ʻeha ʻeha ma ka ʻaoʻao a i ʻole ke kua, ʻaneʻane mau i hoʻokahi ʻaoʻao
• nausea a me ka luaʻi
• ʻeha ma kahi o ke kī, nā pelvis, a i ʻole ka ʻōpū

Cystinuria is asymptomat, ʻo ia hoʻi ʻaʻole kumu, ʻaʻohe pōhaku. Eia nō naʻe, e hoʻi hou nā ʻōuli i kēlā me kēia manawa ke kū nā pōhaku i nā puʻupaʻa. Kū pinepine nā pōhaku ma mua o hoʻokahi manawa.

He aha ke kumu o cystinuria?

Nā kīnā, kapa ʻia he mutation, i loko o nā ʻāpana SLC3A1 a SLC7A9 kumu cystinuria. Hāʻawi kēia mau ʻāpana i nā ʻōkuhi i kou kino e hana i kahi protein transporter i loaʻa i nā puʻupaʻa. Mālama maʻamau kēia protein i ka reabsorption o kekahi mau amino acid.

Hoʻokumu ʻia nā amino acid ke ʻeli ke kino a haki nā protein. Hoʻohana ʻia lākou e hana i nā ʻano hana like ʻole o ke kino, no laila he mea nui i kou kino a ʻaʻole i manaʻo ʻia he ʻōpala. No laila, ke komo kēia mau amino acid i nā puʻupaʻa, lawe mau ʻia lākou i loko o ke kahe o ke koko. I ka poʻe me cystinuria, hoʻopilikia ka maʻi kīnā i ka hiki i ka protein transporter ke reabsorb i nā amino acid.

ʻO kekahi o nā amino acid - cystine - ʻaʻole hiki ke hoʻoheheʻe ʻia i ka mimi. Inā ʻaʻole ia e hoʻopili hou ʻia, e hōʻiliʻili ia i loko o ka puʻukū a hana i nā pōaka, a i ʻole nā ​​pōhaku cystine. Hoʻopili ka pōhaku paʻa paʻa i nā puʻupaʻa, loko, a me nā ureter. He mea ʻeha loa kēia.

ʻO wai ka makaʻu iā cystinuria?

Aia ʻoe i ka makaʻu i ka loaʻa ʻana o ka cystinuria inā loaʻa i kou mau mākua ka hemahema kikoʻī i loko o kā lākou ʻāpana i kumu i ka maʻi. Pēlā pū, loaʻa wale ʻoe i ka maʻi inā hoʻoilina ʻoe i ka hemahema o kou mau mākua ʻelua. Kū ʻo Cystinuria ma kahi o 1 i kēlā me kēia 10,000 poʻe a puni ka honua, no laila he mea liʻiliʻi loa ia.

Pehea i ʻike ʻia ai ka cystinuria?

Hoʻomaopopo pinepine ʻia ʻo Cystinuria ke ʻike kekahi i kahi maʻa o nā pōhaku hakuʻala. Hana ʻia kahi hōʻailona ma ka hoʻāʻo ʻana i nā pōhaku e ʻike inā hana ʻia lākou i waho o ka cystine. Kākaʻikahi ka hana ʻana o ka hoʻokolohua. Hiki i nā hoʻokolohua diagnostic hou ke hoʻopili i kēia mau mea:

Hōʻiliʻili mimi he 24 mau hola

E noi ʻia ʻoe e ʻohiʻohi i kou mimi i loko o kahi pahu ma kahi o ka lā holoʻokoʻa. E hoʻouna ʻia ka mimi i kahi hale hana no ke kālailai.

Pyelogram huhū

ʻO kahi hoʻokolohua X-ray o nā puʻupaʻa, loko, a me nā ureter, hoʻohana kēia hana i kahi kala i ke kahe o ke koko e kōkua ai e ʻike i nā pōhaku.

Scanner CT ʻōpū

Hoʻohana kēia ʻano CT scan i nā kukuna X e hana i nā kiʻi o nā hanana i loko o ka ʻōpū e nānā no nā pōhaku i loko o nā puʻupaʻa.

Urinalysis

ʻO kēia kahi hoʻokolokolo o ka mimi i loko o kahi keʻena hoʻokolohua e pili ana i ka nānā ʻana i ke kala a me ke ʻano o ke kino o ka mimi, ke nānā nei i ka mimi ma lalo o kahi microscope, a ke hana nei i nā hoʻokolohua kemika e ʻike i kekahi mau mea, e like me ka cystine.

He aha nā pilikia o cystinuria?

Inā mālama ʻole maikaʻi ʻia, hiki i ka cystinuria ke hōʻeha loa a hiki i nā pilikia koʻikoʻi. Loaʻa kēia mau pilikia:

• ʻino a pūhū paha mai ka pōhaku
• maʻi maʻi urinary tract
• maʻi kīnā
• ālai ureteral, kahi blockage o ka ureter, ka paipu e hoʻokahe i ka mimi mai nā puʻupaʻa i loko o ka pūpū.

Pehea e mālama ai i ka cystinuria? | Lapaʻau

ʻO nā hoʻololi i kāu papaʻai, nā lāʻau lapaʻau, a me ke ʻoki kino nā koho no ka mālama ʻana i nā pōhaku e pili ana ma muli o cystinuria.

Hoʻololi nā meaʻai

ʻO ka hōʻemi ʻana i ka lawe paʻakai ma lalo o 2 gram i kēlā me kēia lā i hōʻike ʻia he mea kōkua i ka pale ʻana i ka hana pōhaku, e like me kahi noiʻi i ka European Journal of Urology.

Ke hoʻoponopono nei i ke kaulike pH

Hoʻomaʻemaʻe hou ʻia ʻo Cystine i ka mimi ma kahi kiʻekiʻe o ka pH, kahi ana o ka ʻakika a me ke kumu o ka mea. ʻO nā ʻākela alkalizing, e like me ka potassium citrate a i ʻole acetazolamide, e hoʻonui i ka pH o ka mimi e hoʻoheheʻe hou ai ka cystine. Hiki ke kūʻai ʻia i kekahi lāʻau alkalinizing ma luna o ka pā. Pono ʻoe e kamaʻilio me kāu kauka ma mua o ka lawe ʻana i kekahi ʻano o nā waihona.

Nā Lapaʻau

ʻO nā lāʻau i ʻike ʻia ma ke ʻano he chelating agents e kōkua e hoʻonā i nā crystals cystine. Hana kēia mau lāʻau i ka hoʻohui pū ʻana me ka cystine e hana i kahi paʻakikī i hiki ke hoʻoheheʻe i ka mimi. ʻO nā laʻana me D-penicillamine a me alpha-merc laptopropionylglycine. He maikaʻi ka D-penicillamine, akā he nui nā hopena ʻē aʻe.

Kau ʻia nā lāʻau ʻeha e kaohi i ka ʻeha ʻoiai hele nā ​​pōhaku i loko o ka pākū a ma waho o ke kino.

ʻOki kino

Inā nui a ʻeha nā pōhaku, a i ʻole ālai i kekahi o nā paipu e alakaʻi ana mai ka puʻupaʻa, pono paha e hemo ʻia me ka lāʻau. Aia kekahi mau ʻano o nā ʻoki ʻana e haki nā pōhaku. Hoʻopili kēia i nā kaʻina hana aʻe:

• Nalu haʻalulu Extracorporeal lithotripsy (ESWL): Hoʻohana kēia hana i nā nalu haʻalulu e haki i nā pōhaku nui i mau ʻāpana liʻiliʻi. ʻAʻole maikaʻi ia no nā pōhaku cystine e like me nā ʻano pōhaku ʻē aʻe.
• ʻO ka nephrostolithotomy Percutaneous (a i ʻole nephrolithotomy): Kuhi kēia hana i ka hele ʻana i kahi mea hana kūikawā ma o kou ʻili a i loko o kou puʻupaʻa e lawe i nā pōhaku a haki iā lākou.

He aha ka manaʻo lōʻihi?

ʻO Cystinuria kahi ola a hiki ke mālama pono ʻia me ka lāʻau. ʻIke pinepine ʻia nā pōhaku i nā ʻōpio ʻōpio ma lalo o ka makahiki 40 a emi pinepine paha me ka makahiki.

ʻAʻole pili ka Cystinuria i nā ʻāpana ʻē aʻe o ke kino. ʻAʻohe hopena o ke ʻano i ka maikaʻi ʻole o ka hakuʻala. ʻO ka hana pinepine ʻana i nā pōhaku e paʻa ai ka paʻa ʻana, a me nā kaʻina hana e koi ʻia ai ma ke ʻano he hopena, hiki ke hoʻopili i ka hana o ka hakuʻala i ka manawa, e like me ka Rare Diseases Network.

Pehea e pale ai i ka cystinuria?

ʻAʻole hiki ke pale ʻia ʻo Cystinuria inā e hāpai ana nā mākua ʻelua i kahi kope o ka maʻi kīnā. Eia nō naʻe, inu i ka nui o ka wai, hoʻoliʻiliʻi i kāu lawe paʻakai, a me ka lawe ʻana i nā lāʻau i hiki ke kōkua i ka pale ʻana i nā pōhaku mai ka hana ʻana i nā puʻupaʻa.