Cystinuria yog ib qho kev tsis xws luag hauv tubular reabsorption ntawm cov amino acid, cystine, nrog rau kev tso zis ntau ntxiv ntawm nws thiab tsim cov pob zeb cystine hauv cov zis. Cov tsos mob tej zaum yuav yog lub raum colic, urinary tract infection, los yog lub raum tsis ua hauj lwm. Kev kho mob yog ua raws li kev nce hauv cov kua dej, kev hloov pauv ntawm kev noj zaub mov, alkalinization ntawm cov zis lossis txawm tias noj tshuaj kom yaj cov cystine.

Cystinuria yog ib yam kab mob uas tsis tshua muaj tshwm sim hauv lub raum uas ua rau ntau dhau ntawm cystine hauv cov zis. Qhov no amino acid, heev tsis zoo soluble nyob rau hauv cov zis, ces tsim muaju, uas aggregate rau hauv pob zeb nyob rau hauv:

• calyxes ntawm lub raum;
• cov pyelons los yog pelvis, uas yog hais tias cov cheeb tsam uas tso zis thiab ces khiav tawm ntawm lub raum;
• cov ureters, uas yog qhov ntev, nqaim ducts uas nqa zis los ntawm ob lub raum mus rau lub zais zis;
• lub zais zis;
• tso zis.

Kev tsim ntawm cov pob zeb cystine - lossis lithiasis - tuaj yeem ua rau mob raum mob.

Qhov tshwm sim ntawm cystinuria sib txawv los ntawm haiv neeg, xws li 1 ntawm 2 hauv cov neeg Lebanese cov neeg Yudais - cov pej xeem nrog ntau zaus - txog 500 hauv 1 hauv Sweden. Tag nrho qhov nruab nrab feem ntau yog kwv yees li ntawm 100 ntawm 000 tus neeg. Cov txiv neej feem ntau cuam tshuam ntau dua li poj niam.

Cystinuria manifests nws tus kheej nyob rau hauv txhua lub hnub nyoog. Cov txiv neej yuav muaj mob hnyav dua. Cov tsos mob ntawm lub raum pob zeb ua ntej hnub nyoog peb xyoos yog ntau dua nyob rau hauv cov tub. Kev suav yog ob sab hauv ntau dua 75% ntawm cov neeg mob thiab rov tshwm sim hauv ntau dua 60% ntawm cov neeg mob, nrog rau cov txiv neej ntau dua. Txawm hais tias nws tsuas yog 1 mus rau 2% ntawm cov pob zeb neeg laus, nws yog cov kab mob ntau tshaj plaws ntawm lithiasis, thiab yog lub luag haujlwm rau li 10% ntawm cov menyuam pob zeb.

Cystinuria yog tshwm sim los ntawm ib qho kev txawv txav ntawm lub raum tubules, ua rau txo qis ntawm cov tubular raum reabsorption ntawm cystine, thiab nce urinary cystine concentration.

Muaj ob hom kev txawv txav uas ua rau feem ntau ntawm cystinuria:

• homozygous mutations ntawm SLC3A1 noob (2p21) koom nrog hauv hom A cystinuria;
• Homozygous mutations hauv SLC7A9 gene (19q13.11) koom nrog hauv hom B cystinuria.

Cov noob no encode cov proteins uas ua ke ua ib qho heterodimer lub luag haujlwm rau kev thauj cov cystine hauv cov tubule ze ze. Ib qho txawv txav nyob rau hauv ib qho ntawm cov proteins no ua rau lub cev tsis ua haujlwm.

Vim tias cov noob no tsis zoo, cov neeg muaj tus kab mob no yuav tsum tau txais ob lub noob txawv txav, ib qho los ntawm txhua tus niam txiv. Ib tug neeg uas tsuas muaj ib lub noob txawv txav tuaj yeem tso tawm ntau dua li ib txwm muaj cystine hauv cov zis tab sis tsis txaus los tsim cov pob zeb cystine. Tsis muaj kev sib raug zoo ntawm "genotype" (cystinuria A lossis cystinuria B) thiab cov tsos mob ua ntej lossis mob hnyav.

Txawm hais tias cov tsos mob ntawm cystinuria tuaj yeem tshwm sim hauv cov menyuam mos, thawj cov tsos mob tshwm sim ua ntej hnub nyoog 20 xyoo hauv kwv yees li 80% ntawm cov neeg mob, thiab qhov nruab nrab nyob ib ncig ntawm 12 xyoo hauv cov ntxhais thiab 15 xyoo hauv cov tub.

Feem ntau cov tsos mob thawj zaug yog mob hnyav, uas tuaj yeem mus kom deb li deb ntawm kev tawm tsam ntawm "lub raum colic", uas tshwm sim los ntawm kev ua pa ntawm lub ureter, ntawm qhov chaw uas lub pob zeb kaw. Cov pob zeb hauv cov zis tuaj yeem ua rau:

• mob sab nraub qaum lossis mob plab;
• hematuria, uas yog hais tias muaj cov ntshav nyob rau hauv cov zis;
• tshem tawm cov pob zeb me me hauv cov zis (tshwj xeeb yog cov menyuam mos).

Lawv kuj tuaj yeem dhau los ua qhov chaw uas cov kab mob tsim thiab ua rau muaj kab mob urinary los yog, tsis tshua muaj, raum tsis ua haujlwm.

Hauv cov menyuam yaus tsis tshua muaj, cystinuria tuaj yeem cuam tshuam nrog cov kab mob hauv lub paj hlwb xws li neonatal hypotonia, qaug dab peg, lossis kev loj hlob qeeb. Cov no yog cov kab mob nyuaj vim yog "kev tshem tawm", uas yog hais tias qhov poob ntawm DNA tawg, nqa ntau cov noob txuas mus rau SLC3A1 noob ntawm chromosome 2.

Kev kho mob ntawm cystinuria cuam tshuam nrog kev tiv thaiv kev tsim cov pob zeb cystine los ntawm kev tswj hwm qhov qis ntawm cov amino acid no hauv cov zis.

Kev haus dej ntau ntxiv

Rau lub hom phiaj no, ib tug yuav tsum haus ib tug npaum li cas ntawm cov kua txaus los tsim tsawg kawg yog 3 mus rau 4 litres ntawm cov zis ib hnub twg. Raws li qhov kev pheej hmoo ntawm pob zeb tsim yog siab dua thaum hmo ntuj, vim tias koj tsis haus dej haus thiab tso zis ntau dua, nws raug nquahu kom koj haus dej haus ua ntej yuav mus pw. Hauv cov menyuam mos, haus dej haus thaum hmo ntuj yuav xav tau kev teeb tsa ntawm lub raj nasogastric lossis gastrostomy.

Kev noj zaub mov tsawg hauv cov protein thiab ntsev, thiab cov khoom noj muaj alkalizing siab

Kev noj zaub mov tsawg hauv methionine, ua ntej ntawm cysteine, txo qis cov zis cystine. Methionine yog ib qho tseem ceeb amino acid, yog li nws tsis tuaj yeem tshem tawm tab sis nws qhov kev noj haus yuav raug txwv. Rau qhov no, nws yog ib lo lus nug ntawm kev tshem tawm cov zaub mov nplua nuj nyob rau hauv methionine xws li qhuav cod, nees nqaij los yog crayfish thiab gruyere, thiab txwv tsis pub noj nqaij, ntses, qe rau 120-150 grams ib hnub twg. thiab cheese. Kev noj zaub mov muaj protein tsawg tsis pom zoo rau cov menyuam yaus thiab cov tub ntxhais hluas.

Ua kom tau txais cov khoom noj alkalizing xws li qos yaj ywm, zaub ntsuab lossis cov zaub ntsuab, thiab txiv tsawb, nrog rau kev noj ntsev tsawg kuj tuaj yeem pab txo qis cov concentration ntawm cystine hauv cov zis. Qhov tseeb, cov zis tso zis ntawm sodium nce cystine. Yog li, hauv qee tus neeg mob, urinary cystine excretion tuaj yeem txo qis los ntawm 50% los ntawm kev txo qis sodium noj rau 50 mmol / hnub.

Tshuaj kom alkalize zis

Txij li thaum cystine dissolves yooj yim dua nyob rau hauv alkaline, piv txwv li, yooj yim, zis tshaj nyob rau hauv acidic zis, tej zaum yuav raug pom zoo, kom cov zis tsis acidic thiab yog li ntawd nce lub solubility ntawm cystine, yog li noj:

• alkaline dej;
• 6 mus rau 8 grams ib hnub twg ntawm poov tshuaj citrate nyob rau hauv 1,5 mus rau 2 liv dej;
• 8 mus rau 16 grams ib hnub twg ntawm poov tshuaj bicarbonate nyob rau hauv 2 mus rau 3 liv dej;
• lossis lwm yam acetazolamide 5 mg / kg (txog 250 mg) ntawm qhov ncauj thaum mus pw.

Tshuaj kom yaj cystine

Yog tias pob zeb tseem tsim txawm tias cov kev ntsuas no, cov tshuaj hauv qab no yuav raug muab:

• penicillamine (7,5 mg / kg ntawm qhov ncauj 4 zaug / hnub hauv cov menyuam yaus thiab 125 mg rau 0,5 g ntawm qhov ncauj 4 zaug / hnub hauv cov menyuam yaus);
• tiopronin (100 mus rau 300 mg ntawm qhov ncauj 4 zaug / hnub);
• los yog captopril (0,3 mg / kg ntawm qhov ncauj 3 zaug / hnub).

Cov tshuaj no hnov ​​​​mob nrog cystine thiab khaws cia rau hauv daim ntawv txog li tsib caug npaug ntau dua soluble dua li cystine nws tus kheej.

Kev tswj urological

Kev tswj cov pob zeb uas tsis ploj mus spontaneously xav tau cov tswv yim urological rau kev kho mob lithiasis. Tus kws kho mob urologist tuaj yeem siv cov txheej txheem cuam tshuam tsawg tshaj plaws, nyob ntawm txhua qhov xwm txheej, xws li ureterorenoscopy lossis percutaneous nephrolithotomy.