ʻO Cystinuria kahi hemahema i hoʻoili ʻia i ka tubular reabsorption o kahi amino acid, cystine, me ka hoʻonui ʻana i ka urinary excretion a me ka hoʻokumu ʻana o nā pōhaku cystine i loko o ka ʻāpana urinary. ʻO nā hōʻailona paha he colic renal, maʻi ʻāpana mimi, a i ʻole ka hōʻemi ʻana o ka puʻupaʻa. Hoʻokumu ʻia ka lāʻau lapaʻau ma ka hoʻonui ʻana i ka inu wai, kahi hoʻololi o ka meaʻai, kahi alkalinization o ka mimi a i ʻole ka lawe ʻana i nā lāʻau lapaʻau e hoʻopau i ka cystine.

ʻO Cystinuria kahi maʻi puʻupaʻa i hoʻoili ʻole ʻia e hoʻoulu ai i ka excretion nui o ka cystine i loko o ka mimi. ʻO kēia waikawa amino, hiki ʻole ke hoʻoheheʻe ʻia i loko o ka mimi, a laila hana i nā kristal, e hōʻuluʻulu i nā pōhaku i:

• nā kīʻaha o nā puʻupaʻa;
• nā pyelons a i ʻole pelvis, ʻo ia hoʻi nā wahi i hōʻiliʻili ʻia ai ka mimi a laila hoʻokuʻu ʻia i waho o ka puʻupaʻa;
• ka ureters, ʻo ia nā awāwa lōʻihi a haiki e lawe ai i ka mimi mai nā puʻupaʻa a i ka ʻōpū;
• ka ʻōpū ;
• uretra

ʻO ka hoʻokumu ʻana o kēia mau pōhaku cystine - a i ʻole lithiasis - hiki ke alakaʻi i ka maʻi maʻi maʻi.

ʻOkoʻa ka nui o ka cystinuria e ka lāhui, mai ka 1 i ka 2 i ka heluna kanaka Iudaio Lebanona - ka heluna kanaka me ke alapine kiʻekiʻe loa - i 500 i ka 1 ma Suedena. ʻO ka awelika prevalence ma kahi o 100 i 000 mau kānaka. ʻOi aku ka hopena o nā kāne ma mua o nā wahine.

Hōʻike ʻo Cystinuria iā ia iho i kēlā me kēia makahiki. Loaʻa i nā kāne ka maʻi koʻikoʻi. ʻO ka hiʻohiʻona o nā pōhaku kīkī ma mua o ʻekolu mau makahiki he mea maʻamau i nā keikikāne. He bilateral ka helu ʻana ma luna o 75% o nā hihia a hoʻi hou ma luna o 60% o nā hihia, me ka pinepine o nā kāne. ʻOiai he 1 a 2% wale nō o nā pōhaku makua, ʻo ia ka lithiasis genetic maʻamau, a nona ke kuleana ma kahi o 10% o nā pōhaku o nā keiki.

Hoʻokumu ʻia ʻo Cystinuria ma muli o ka hoʻoili ʻia ʻana o nā tubules renal, ka hopena i ka hoʻemi ʻana o ka tubular renal reabsorption proximal o ka cystine, a me ka hoʻonui ʻana o ka cystine urinary.

ʻElua mau ʻano maʻi kūlohelohe e kumu i ka hapa nui o ka cystinuria:

• homozygous mutations o ka SLC3A1 gene (2p21) pili i ka type A cystinuria;
• homozygous mutations i loko o ka SLC7A9 gene (19q13.11) pili i ka type B cystinuria.

Hoʻopili kēia mau genes i nā protein i hui pū ʻia i kahi heterodimer kuleana no ka lawe ʻana i ka cystine i loko o ka tubule proximal. ʻO kahi mea ʻino i kekahi o kēia mau protein e hopena i ka hana ʻole o ka transporter.

Ma muli o ka hoʻihoʻi ʻana o kēia mau genes, pono i ka poʻe me kēia maʻi i hoʻoili i ʻelua mau genes ʻanoʻole, hoʻokahi mai kēlā me kēia makua. Hiki i ke kanaka nona hoʻokahi gene abnormal ke hoʻokuʻu i ka nui o ka cystine i loko o ka mimi akā ʻaʻole lawa e hana i nā pōhaku cystine. ʻAʻohe pilina ma waena o ka "genotype" (cystinuria A a i ʻole cystinuria B) a me ka precocity a i ʻole ka paʻakikī o nā hōʻailona.

ʻOiai hiki ke ʻike ʻia nā hōʻailona o ka cystinuria i nā pēpē, ʻike ʻia nā hōʻailona mua ma mua o ka makahiki 20 ma kahi o 80% o nā maʻi, a ma ka awelika ma kahi o 12 mau makahiki i nā kaikamahine a me 15 mau makahiki i nā keikikāne.

ʻO ka manawa pinepine ka hōʻailona mua he ʻeha nui, hiki ke hele a hiki i ka hoʻouka ʻana o ka "colic renal", ma muli o kahi spasm o ka ureter, ma kahi i paʻa ai ka pōhaku. Hiki i nā pōhaku ʻāpana urinary ke kumu:

• ka ʻeha mau o ke kua lalo a i ʻole ka ʻeha o ka ʻōpū;
• hematuria, ʻo ia hoʻi ke ʻano o ke koko i loko o ka mimi;
• ka hoʻopau ʻana i nā pōhaku liʻiliʻi i loko o ka mimi (ʻoi loa i nā pēpē).

Hiki iā lākou ke lilo i kahua kahi e kūkulu ai ka bacteria a hoʻoulu i ka maʻi ʻāpana urinary a i ʻole, ʻoi aku ka paʻakikī, ka hāʻule ʻana o ke kīkī.

I nā keiki kakaʻikahi loa, pili paha ka cystinuria me nā ʻano ʻino neurological e like me ka neonatal hypotonia, ka hopu ʻana, a me ka lohi o ka ulu ʻana. He mau maʻi maʻi paʻakikī kēia ma muli o nā "holoi", ʻo ia hoʻi ka nalowale o kahi ʻāpana DNA, e lawe ana i kekahi mau genes e pili ana i ka gene SLC3A1 ma ka chromosome 2.

ʻO ka mālama ʻana i ka cystinuria e pili ana i ka pale ʻana i ka hana ʻana o nā pōhaku cystine ma ka mālama ʻana i nā haʻahaʻa haʻahaʻa o kēia amino acid i loko o ka mimi.

Hoʻonui i ka inu wai

No kēia kumu, pono e inu kekahi i ka nui o ka wai e hiki ai ke hana ma kahi o 3 a 4 mau lita o ka mimi i kēlā me kēia lā. No ka mea, ʻoi aku ka nui o ka pilikia o ka hoʻokumu ʻana i ka pōhaku i ka pō, no ka mea ʻaʻole ʻoe e inu a hoʻopuka ʻia ka mimi i nā mea liʻiliʻi, pono ʻoe e inu i ka wai ma mua o ka moe ʻana. I nā kamaliʻi, ʻo ka inu ʻana i nā mea inu i ka pō, pono paha e hoʻokomo i kahi paipu nasogastric a i ʻole gastrostomy.

ʻAi haʻahaʻa i ka protein a me ka paʻakai, a kiʻekiʻe i nā meaʻai alkalizing

ʻO ka ʻai haʻahaʻa i ka methionine, kahi precursor o ka cysteine, hoʻohaʻahaʻa i ka hoʻokuʻu ʻana i ka cystine mimi. ʻO ka Methionine kahi amino acid pono, no laila ʻaʻole hiki ke wehe ʻia akā hiki ke kaupalena ʻia ka lawe ʻana. No kēia mea, he nīnau ia o ka hoʻopau ʻana i nā meaʻai waiwai nui i ka methionine e like me ka cod maloʻo, ka ʻiʻo lio a i ʻole crayfish a me ka gruyere, a e kaupalena ʻia ka ʻai ʻana o ka ʻiʻo, ka iʻa, nā hua i 120-150 grams i kēlā me kēia lā. a me ka paʻakai. ʻAʻole ʻōlelo ʻia ka ʻai haʻahaʻa protein no nā keiki a me nā ʻōpio.

ʻO ka hoʻonui ʻana i ka ʻai ʻana i nā meaʻai alkalizing e like me ka ʻuala, nā lau ʻōmaʻomaʻo a ʻulaʻula paha, a me ka maiʻa, me ka liʻiliʻi o ka paʻakai hiki ke kōkua pū i ka hoʻohaʻahaʻa ʻana o ka cystine i loko o ka mimi. ʻO ka ʻoiaʻiʻo, ʻo ka hoʻokuʻu ʻana i ka mimi o ka sodium e hoʻonui i ka cystine. No laila, i kekahi mau mea maʻi, hiki i ka urinary cystine excretion ke emi i ka 50% ma o ka hoʻemi ʻana i ka ʻai sodium i ka 50 mmol / lā.

ʻO nā lāʻau e hoʻokaʻawale i ka mimi

Ma muli o ka maʻalahi o ka hoʻoheheʻe ʻana o ka cystine i ka alkaline, ʻo ia hoʻi, ka mimi kumu ma mua o ka mimi waikawa, hiki ke ʻōlelo ʻia, e hoʻemi i ka ʻakika o ka mimi a no laila e hoʻonui i ka solubility o ka cystine, no laila e lawe:

• wai alkaline;
• 6 i ka 8 grams i ka lā o ka potassium citrate i 1,5 a 2 lita o ka wai;
• 8 a 16 grams no ka lā o ka potassium bicarbonate i 2 a 3 lita o ka wai;
• a i ʻole acetazolamide 5 mg / kg (a hiki i 250 mg) waha i ka wā e moe ai.

Nā lāʻau e hoʻopau i ka cystine

Inā hoʻomau ka hana ʻana o nā pōhaku me kēia mau ana, hiki ke hāʻawi ʻia kēia mau lāʻau lapaʻau:

• penicillamine (7,5 mg / kg i ka waha 4 mau manawa / lā i nā keiki liʻiliʻi a me 125 mg i 0,5 g waha i 4 mau manawa / lā i nā keiki ʻōpio);
• tiopronin (100 a 300 mg i ka waha 4 mau manawa / lā);
• a i ʻole captopril (0,3 mg / kg i ka waha 3 mau manawa / lā).

Hoʻopili kēia mau lāʻau lapaʻau me ka cystine a mālama ʻia i ke ʻano a hiki i ke kanalima manawa i ʻoi aku ka soluble ma mua o ka cystine ponoʻī.

Hoʻoponopono Urological

ʻO ka hoʻokele ʻana i nā pōhaku ʻaʻole e hele maʻalahi e koi i nā ʻenehana urological no ka mālama ʻana i ka lithiasis. Hiki i ka urologist ke hoʻohana i nā kaʻina hana liʻiliʻi loa, ma muli o kēlā me kēia kūlana, e like me ka ureterorenoscopy a i ʻole nephrolithotomy percutaneous.