Cystinuria chirema chakagarwa nhaka mu tubular reabsorption yeamino acid, cystine, nekuwedzera weti kubuda kwayo uye kuumbwa kwe cystine matombo muurinary turakiti. Zviratidzo zvinogona kuva renal colic, urinary tract infection, kana itsvo kusashanda zvakanaka. Kurapa kunobva pakuwedzera kwekunwa kwemvura, kugadzirisa kwekudya, alkalinization yeweti kana kunyange kutora mishonga yekunyungudutsa cystine.

Cystinuria chirwere chisingawanzogarwa nhaka cheitsvo chinokonzera kubuda kwakanyanya kwe cystine muweti. Iyi amino acid, isinganyanyi kunyungudika muweti, yobva yagadzira makristasi, anoungana kuita matombo mu:

• calyxes yeitsvo;
• pyelons kana pelvis, kureva nzvimbo iyo weti inounganidzwa uye yozobudiswa kunze kweitsvo;
• iyo ureters, iyo yakareba, mikoto yakamanikana inotakura weti kubva kuitsvo kuenda kudura;
• dundira ;
• urethra.

Kuumbwa kweiyi cystine matombo - kana lithiasis - inogona kutungamirira kuchirwere chetsvo chisingaperi.

Kuwanda kwe cystinuria kunosiyana-siyana nemarudzi, kubva pa1 mu2 muLebanese Jewish population - huwandu hwevanhu vane huwandu hwepamusoro - kusvika ku500 mu1 muSweden. Huwandu hwehuwandu hwehuwandu hwehuwandu hunofungidzirwa kune zana mu100 vanhu. Varume ndivo vanowanzobatwa zvakanyanya kupfuura vakadzi.

Cystinuria inozviratidza pazera ripi zvaro. Varume vanowanzova nehurwere hwakanyanya. Kuonekwa kwematombo eitsvo kusati kwasvika makore matatu kunowanzoonekwa nevakomana. Macalculations ari maviri maviri mune anopfuura makumi manomwe neshanu muzana emakesi uye anodzokororwa mune anopfuura 75% ezviitiko, uye kuwanda kwehuwandu muvarume. Kunyange zvazvo inongotora 60 kusvika ku1% yematombo evakuru, ndiyo inowanzozivikanwa genetic lithiasis, uye inokonzera anenge 2% ematombo evana.

Cystinuria inokonzerwa nekusagadzikana kwakagara nhaka kwerenal tubules, zvichikonzera kuderedzwa kweproximal tubular renal reabsorption ye cystine, uye kuwedzera weti cystine concentration.

Pane maviri genetic abnormalities anokonzera mazhinji kesi dze cystinuria:

• homozygous mutations yeSLC3A1 gene (2p21) inobatanidzwa mumhando yeA cystinuria;
• homozygous mutations muSLC7A9 gene (19q13.11) inobatanidzwa mumhando yeB cystinuria.

Aya majini anovharira mapuroteni ayo pamwe chete anoumba heterodimer inotarisira kutakurwa kwecystine muproximal tubule. Kusajairika mune imwe yemapuroteni aya kunoguma nekusashanda zvakanaka kwevatakuri.

Nemhaka yokuti majini aya anowanda, vanhu vane chirwere ichi vanofanira kunge vakagara nhaka magene maviri asina kujairika, rimwe kubva kumubereki mumwe nomumwe. Munhu ane geni rimwe chete risina kujairika anogona kubudisa cystine muweti yakawanda kupfuura yakajairika asi isingakwani kuumba cystine stones. Hapana hukama pakati pe "genotype" (cystinuria A kana cystinuria B) uye precocity kana kuoma kwezviratidzo.

Kunyange zvazvo zviratidzo zve cystinuria zvinogona kuonekwa muvacheche, zviratidzo zvekutanga zvinoonekwa vasati vasvika makore makumi maviri mune inenge 20% yevarwere, uye paavhareji makore anenge gumi nemaviri muvasikana nemakore gumi nemashanu muvakomana.

Kazhinji chiratidzo chekutanga kurwadziwa kwakanyanya, kunogona kusvika kusvika pakurwisa kwe "renal colic", inokonzerwa ne spasm ye ureter, panzvimbo iyo ibwe rakavharwa. Urinary turakiti matombo anogonawo kukonzera:

• kupfuurira kunorwadza kuzasi kana mudumbu;
• hematuria, kureva kuvapo kweropa muweti;
• kubviswa kwematombo maduku mumuguta (kunyanya mucheche).

Ivo vanogona zvakare kuve saiti iyo mabhakitiriya anovaka uye kukonzera weti turakiti hutachiona kana, kashoma, kutadza kweitsvo.

Muvana vasingawanzoitiki, cystinuria inogona kusanganiswa neurological abnormalities senge neonatal hypotonia, pfari, kana kunonoka kukura. Aya masyndromes akaomarara nekuda kwe "kubviswa", ndiko kuti kurasikirwa kwechidimbu cheDNA, chakatakura majini akati wandei anoenderana neSLC3A1 gene pachromosome 2.

Kurapa kwe cystinuria kunosanganisira kudzivirira kuumbwa kwe cystine matombo nekuchengetedza kuderera kweiyo amino acid muweti.

Kuwedzera kunwa mvura

Nechinangwa ichi, munhu anofanirwa kunwa huwandu hwemvura inokwana kuburitsa kanenge 3 kusvika 4 malita eweti pazuva. Sezvo njodzi yekugadzirwa kwematombo yakakwirira usiku, nokuti haunwi uye urini inobudiswa muhuwandu hushoma, zvinokurudzirwa kuti unwe mvura usati waenda kunorara. Muvacheche, kutora zvinwiwa usiku zvingada kuiswa kwe nasogastric tube kana gastrostomy.

Kudya kwakaderera muprotein nemunyu, uye kwakakwira mune alkaliizing chikafu

Kudya kwakaderera mumethionine, precursor ye cysteine, kunoderedza weti cystine excretion. Methionine yakakosha amino acid, saka kubviswa kwayo hakugoneki asi kutora kwayo kunogona kushomeka. Nekuda kweizvi, inyaya yekubvisa chikafu chakapfuma kwazvo mumethionine senge cod yakaomeswa, nyama yebhiza kana kunyange crayfish uye gruyere, uye kudzikisira kudyiwa kwenyama, hove, mazai kusvika 120-150 gramu pazuva. uye cheeses. Iyo yakaderera protein yekudya haikurudzirwe kuvana nevechiri kuyaruka.

Kuwedzera kudya kwekudya kwealkalizing senge mbatatisi, miriwo yakasvibira kana ine mavara, uye mabhanana, pamwe nekudya munyu zvishoma kunogona kubatsirawo kuderedza kuwanda kwecystine muweti. Muchokwadi, iyo urinary excretion ye sodium inowedzera iyo ye cystine. Nokudaro, mune vamwe varwere, urinary cystine excretion inogona kuderera ne50% nekuderedza kudya kwe sodium kusvika 50 mmol / zuva.

Mishonga yeku alkalize weti

Sezvo cystine inonyungudika zviri nyore mualkaline, kureva yekutanga, weti pane mune acidic weti, inogona kukurudzirwa, kuita kuti weti isanyanya acidic uye nekudaro kuwedzera kunyungudika kwecystine, nokudaro kutora:

• alkaline mvura;
• 6 kusvika ku8 gramu pazuva re potassium citrate mu 1,5 kusvika ku2 malita emvura;
• 8 kusvika ku16 gramu pazuva re potassium bicarbonate mu 2 kusvika ku 3 malita emvura;
• kana kuti acetazolamide 5 mg/kg (kusvika 250 mg) nemuromo panguva yokurara.

Mishonga yekunyungudutsa cystine

Kana matombo akaramba achiumbwa kunyangwe matanho aya, mishonga inotevera inogona kupihwa:

• penicillamine (7,5 MG / makirogiramu muromo 4 nguva / zuva muvana vaduku uye 125 MG kusvika 0,5 g nomuromo 4 kanomwe pazuva);
• tiopronin (100 kusvika 300 mg nomuromo 4 nguva / zuva);
• kana Captopril (0,3 mg / kg nemuromo katatu / zuva).

Mishonga iyi inobata ne cystine uye inoichengeta iri mufomu inosvika makumi mashanu inonyungudika kupfuura cystine pachayo.

Urological management

Kutarisira kwematombo asingaendi ega kunoda urological matekiniki ekurapa lithiasis. Chiremba weurologist angashandisa nzira shoma shoma, zvichienderana nemamiriro ega ega, senge ureterorenoscopy kana percutaneous nephrolithotomy.