Une cystine yakaungana mumasero emuviri wako here? Izvi zvinonzi cystinosis!

Fungidzira, chii chingaitika kana amino acid inonzi `(cystine)` (cysteine) ikatanga kuungana mukati memasero madiki mumuviri wedu? Ndiyo mamiriro anonzi `(Cystinosis). Ichi chirwere chisingawanzoitika chemajini chisingawanzoonekwa, asi chinofanira kuonekwa sechinhu chakakosha. Kana `(cystine)` ikaungana zvakanyanya mukati memasero, masero iwayo anogona kukuvara. Kutaura chokwadi, iyi `(cystine)` inokonzera makristaro madiki kuumbwa mukati memasero, uye paanoungana, anokonzera matambudziko kune nhengo dzakasiyana-siyana nematishu mumuviri wedu. Ngatitaurei nezve iyi `(Cystinosis)` zvakadzama uye nhasi, zvakanaka here?

Chii chinonzi Cystinosis? Ngatinzwisisei chaizvo!

Zvichitaurwa zviri nyore, cystinosis chirwere chemajini . Chinoitika apa ndechekuti amino acid `(cystine)` (cysteine) inoungana mukati memasero edu. Unoziva, maamino acids akakosha zvikuru mumuviri wedu. Zvisinei, kana iyi `(cystine)` iri mumasero akawanda, inokuvadza masero. Nekuda kweiyi `(cystine)` yakawanda , makristaro madiki akafanana nezvinhu zvinoumbwa mukati memasero. Makristaro aya anoungana zvishoma nezvishoma otanga kukuvadza nhengo dzakasiyana-siyana nematishu mumuviri wedu.

Cystinosis inowanzo kanganisa itsvo nemaziso . Zvisinei, inogonawo kukuvadza uropi, tsandanyama, chiropa, thyroid, pancreas, uye muvarume, machende.

Izvi hazviwanzoitiki, zvichireva kuti zvinobata munhu mumwe chete pavanhu chiuru. Zvisinei, chirwere chakakomba, chinotora hupenyu hwese . Zvisinei, kana chikaonekwa nekukurumidza uye chikarapwa nemazvo, kufambira mberi kwechirwere ichi kunogona kudzorwa zvakanyanya. Zvisinei, vanhu vazhinji vanozopedzisira vava nechirwere cheitsvo uye vanoda kuisirwa itsvo.

Kune mhando dzakasiyana dze cystinosis here?

Ehe, kune mhando nhatu huru dze cystinosis. Mhando idzi dzinopatsanurwa zvichienderana nezera rekutanga kuoneka kwezviratidzo (kureva kuti chirwere chakatanga riini) uye kuoma kwezviratidzo.

1. Nephropathic cystinosis (rudzi rwevacheche)

Iyi ndiyo mhando inonyanya kuwanikwa . Vanhu vanosvika 95% vane cystinosis vane rudzi urwu. Ndiyo mhando yakanyanya kuipa . Inonziwo infantile cystinosis.

Vacheche vane chirwere ichi chinonzi `(Nephropathic cystinosis)` vanowana chirwere chakakosha chinokuvadza itsvo . Chinonzi `(renal Fanconi syndrome)`. Muchirwere ichi, maminerari nezvimwe zvinovaka muviri zvinodiwa nemuviri wedu hazvipindi zvakanaka muropa, asi zvinoburitswa muweti. Fungidzira, kana muviri wemwana mudiki ukarasikirwa nezvinhu zvaunoda nenzira iyi,Kukura kwemwana kunononoka, mapfupa anoshaya simba, anogona kukotama (izvi zvinonziwo "rickets"), uye mamwe matambudziko akawanda anogona kuitika.

Kazhinji, pazera remakore maviri , makristaro ecystine anotanga kuumbwa mu cornea yemaziso emwana. Makristaro aya anoungana, uye nekufamba kwenguva, maziso anotanga kunzwa chiedza (photophobia). Izvi zvinogona kukonzera kurwadziwa kwakanyanya kwemaziso uye kusagadzikana . Zvakafanana nemaziso anoshanduka kuita bhuruu kana akatarisana nezuva.

Vana vane chirwere ichi chinonzi `(Nephropathic cystinosis)` vanofanira kuisirwa itsvo. Kana vakasarapwa, itsvo dzinogona kusashanda zvakanaka pazera remakore gumi. Zvisinei, kana vakarapwa nemazvo, vana ava vanogona kurarama kusvika vakura vaine hupenyu hwakanaka.

2. Kurwara kwepakati nepakati (rudzi rwekutanga kwevana)

Izvi zvinonziwo cystinosis yevechidiki kana kuti yevechidiki. Zviratidzo zvakafanana nezve cystinosis yevana vadiki, asi zviratidzo zvinoonekwa pazera rekuva mudiki kana kuyaruka . Zviratidzo zvinogona kunge zvisina kusimba kana kuti zvakanyanya nekufamba kwenguva.

Vanhu vane rudzi urwu rwe cystinosis vanozopedzisira vada kuisirwa itsvo. Kana itsvo dzikasarapwa, dzinogona kusashanda zvakanaka mukati memakore gumi nemashanu kusvika makumi maviri nemashanu .

3. Non-nephropathy cystinosis (rudzi rwechirwere chinongokanganisa maziso chete)

Izvi zvinonziwo benign cystinosis, kana kuti ocular cystinosis. Rudzi urwu runokanganisa maziso chete . Makristaro eCystine anoumba mu cornea yeziso, zvichikonzera photophobia. Zvisinei, vanhu vazhinji vane rudzi urwu havana kukuvara kweitsvo kana zvimwe zviratidzo .

Zera iro chirwere ichi chinowanikwa (Non-nephropathy cystinosis) rinogona kusiyana, sezvo zviratidzo zvisingawanzoitiki. Zvisinei, kazhinji inobata vanhu vakuru vezera repakati nepakati.

Ndiani anowana cystinosis?

Cystinosis chirwere chemajini chinogona kukanganisa chero munhu . Chirwere ichi chinogara nhaka nenzira ye autosomal recessive pattern. Izvi zvinoreva kuti vabereki vese vanofanira kutakura gene rakachinja rechirwere ichi . Kana vabereki vese vari vatakuri ve gene rakachinja (zvichireva kuti havana zviratidzo, asi vane gene racho), vane mukana we25% (mumwe pavana) wekuva nemwana ane cystinosis.

Chirwere ichi chakajairika zvakadii?

Cystinosis chirwere chisingawanzoitiki . Pasi rose, chinobata munhu mumwe chete pavana 100,000 kusvika 200,000 vanozvarwa.

Cystinosis inokanganisa sei muviri wedu?

Cystinosis chirwere chiri muboka rezvirwere zvinonzi `(lysosomal storage disorder)`. Fungidzira, mukati memasero edu mune maorganelle madiki anonzi `(lysosomes)` . Izvi zvakafanana nemagaba emarara emusero. Anopwanya zvinovaka muviri zvakaita semakabhohaidhiretsi, mapuroteni, nemafuta. Mamwe mapuroteni anoshanda se`(enzymes)` uye anobatsira muviri kupinza zvinovaka muviri izvi. Mamwe mapuroteni anoshanda se`(vatakuri)`. Kureva kuti, ava vatakuri vanotora zvasara`(cystine)` kubva muzvinhu zvakaputswa kubva mulysosomes.

Zvino, kana ukarasikirwa nerimwe remapuroteni aya ekufambisa, `(cystine)` haigone kubuda muma lysosomes yotanga kuungana mukati memasero. Ndipo panoumbwa `(cystine)`, izvo zvinokuvadza nhengo dzemuviri.

Ndezvipi zviratidzo zve cystinosis?

Zviratidzo uye kuoma kwazvo zvinosiyana zvichienderana nezera iro chirwere chinotanga uye nguva yachinoonekwa.

Zviratidzo zve nephropathic cystinosis (muchimiro chevacheche) zvinowanzotanga kuoneka pakati pemwedzi mitanhatu kusvika gumi nemisere yekuzvarwa , apo itsvo dzinenge dzakuvara. Izvi ndizvo zviratidzo zvikuru:

• Nyota yakawandisa (polydipsia).
• Kuita weti yakawandisa (polyuria).
• Kusawirirana kwema electrolyte mumuviri.
• Kurutsa.
• Kushaya mvura mumuviri.
• Kupindwa nechando.

Zvimwe zviratidzo zvinogona kusanganisira:

• Kupera simba kwemapfupa, maronda.
• Kukundikana kubudirira.
• Mavanga kana kuti kusviba kwe cornea yemaziso.
• Kunzwa chiedza (photophobia).
• Kutadza kuona zvakanaka.
• Kuoma kumedza (dysphagia).

Zviratidzo zve intermediate cystinosis (chimiro chevechidiki) zvakafanana nezvechimiro chevacheche. Zvisinei, zvinotanga kuoneka pazera rekuva mudiki kana kuyaruka. Zvakare, zviratidzo zvinogona kunge zvisina kunyanya kuipa. Zvimwe zviratidzo zvinogona kuonekwa muchimiro ichi zvinosanganisira:

• Kuneta, kuneta.
• Kushaya simba kwetsandanyama.
• Chirwere chetsandanyama `(myopathy)` (myopathy).
• Mupfupi.
• Kunonoka kuyaruka.
• Kusabereka.

Cystinosis yemaziso (isiri yenephropathy cystinosis) inokanganisa cornea yeziso chete. Photophobia ndiyo chete chiratidzo . Hapana zviratidzo zvine chekuita neitsvo.

Ndezvipi zvikonzero zve cystinosis?

Izvi zvinokonzerwa nekuchinja kwemajini mujini rinonzi CTNS.. Iri jini rekuti '(CTNS)' rinorayira muviri wedu kugadzira puroteni inonzi '(cystinosin)'. `(Cystinosin)` ndiro puroteni rinotakurwa rambotaurwa. Kureva kuti, basa rayo nderekubvisa amino acid '(cystine)' kubva mu lysosomes.

Saka, kana paine shanduko mujini re`(CTNS)`, panenge paine chikanganiso muprotein ye`(cystinosin)`. Zvadaro,`(cystine)` haigone kubuda mu lysosomes yotanga kuungana. Ndipo apo ma cysts anoumbwa nekukuvadza masero ari munhengo dzemuviri.

Zvagara zvichinzi izvi zvinogara nhaka mu "autosomal recessive pattern". Izvi zvinoreva kuti vabereki vese vanofanira kunge vari ivo vanotakura jini iri rakachinja (havana zviratidzo) . Mwana anowana chirwere ichi chete kana vabereki vese vakagara nhaka jini iri rakachinja.

Cystinosis inoonekwa sei?

Chiremba wako achakubvunza nezvezviratidzo zvako uye nhoroondo yezveutano hwemhuri yako. Iye achabva aita bvunzo yemuviri uye oraira kuti aongorore mamiriro acho ezvinhu.

Ndedzipi bvunzo dziri kuitwa pakuita izvi?

Chiremba anogona kuita bvunzo idzi:

• Kuongororwa kweropa: Muenzaniso weropa rako unotorwa uye huwandu hwe cystine mumasero machena eropa hunoongororwa.
• Kuongororwa kwemajini: Nyanzvi yezvemajini ichaongorora shanduko dziri mujini rako reCTNS.
• Kuongororwa kweweti: Muenzaniso weweti unotorwa woongororwa kuti pane maminerari, zvinovaka muviri, munyu, uye maamino acid akawandisa.
• Kuongororwa kweziso: Chiremba wemaziso achashandisa maikorosikopu chaiyo (rambi rinotsvedza) kuti aone kana paine makristaro ecystine mucornea yako.

Kana uine pamuviri uye mumwe munhu mumhuri yako aine cystinosis, uye iwe nemumwe wako mukawanikwa muine chirwere ichi, kuongororwa kwemwana asati aberekwa, senge amniocentesis, kunogona kuitwa kuti kuonekwe kana mwana wako aine chirwere ichi . Izvi zvinosanganisira kutora sampuro yemasero kubva mumvura yeamniotic yakakomberedza mwana uye kutarisa huwandu hwecystine.

Imwe bvunzo inonzi ``chorionic villus sampling`` inogona kushandiswawo. Iyi bvunzo inoedza masero ari muplacenta.

Ndeipi mishonga yekurapa cystinosis?

Mushonga unonzi Cysteamine

Mushonga mukuru we cystinosis mushonga unonzi cysteamine . Uyu mushonga unopedza simba re cystine. Izvi zvinoreva kuti unoderedza huwandu hwe cystine mumasero ako.

Kana mushonga uyu `(cysteamine)` ukatanga kushandiswa nekukurumidza, kukuvara kweitsvo kunogona kudzorwa zvakanyanya uye kunonokeswa.Mushonga uyu wakabatsira kunonotsa kudiwa kwekuisirwa itsvo. Vamwe vana vakakwanisa kunonotsa kuisirwa itsvo kusvika vakura. Uyewo, mushonga uyu unovandudza kukura kwevana vane chirwere ichi.

Kune mhando mbiri dze `(Cysteamine)`: `(Cystagon™)` uye `(Procysbi™)` (aya mazita emhando). `(Cystagon™)` inofanira kutorwa maawa matanhatu ega ega. `(Procysbi™)` (kune avo vane makore anopfuura matanhatu) ine pendi yakakosha, saka inogona kutorwa maawa gumi nemaviri ega ega.

Mushonga unowanzoitwa `(cysteamine)` haurapi makristaro e`(cystine)` mu cornea yeziso. Panyaya iyi, kune mhando mbiri dzemakristaro emaziso e`(cysteamine)` akatenderwa neUS Food and Drug Administration`(FDA): `(Cystaran™)` uye `(Cystadrops™)`. Madhistaro aya anofanira kushandiswa kanenge kamwe chete paawa paunenge wakamuka. Anonyungudutsa makristaro ari mu cornea uye anoderedza kunzwa kwechiedza.

Mamwe marapirwo

Vana vane cystinosis vangada mamwe marapirwo, zvichienderana nezviratidzo zvavo. Marapirwo eFanconi syndrome anosanganisira:

• Inwa mvura yakawanda uye ma electrolytes (kudzivirira kurasikirwa nemvura zvakanyanya mumuviri).
• Mushonga wekuchengetedza munyu mumuviri.
• Mushonga wekugadzirisa dambudziko rekunyudzwa kwephosphate neitsvo.

Mimwe mishonga yekurapa cystinosis inosanganisira:

• Kurapa kwehomoni yekukura.
• Kana uine chirwere cheshuga chinokonzerwa ne insulin, unoda insulin.
• Testosterone yevarume vane hypogonadism.
• Kurapa kwekutaura nemutauro.
• Mazano ezvemajini.

Vamwe vana vanonetseka nekudya vangada kupihwa chikafu kuburikidza nechubhu (gastronomy tube). Chubhu iyi inoshandiswa kupa chikafu chakakodzera uye kupa mishonga.

Cystinosis yemaziso, iyo inokanganisa maziso chete, inogonawo kurapwa nenzira dzinotevera:

• Kudzivirira chiedza chakajeka.
• Kupfeka magirazi ezuva.
• Kuchengetedza maziso akanyorova.
• Kashoma, kuisirwa cornea kunogona kudiwa.

Kuisirwa itsvo

Kunyangwe kana zvikaonekwa uye kurapwa nekukurumidza, vanhu vane chirwere chetsvo uye chepakati checystinosis vanozopedzisira vaita kutadza kushanda kweitsvo. Pakutanga, chiremba wako anogona kurapa kutadza kushanda kweitsvo ne dialysis. Dialysis muchina unotora mamwe mabasa anoita itsvo dzako. Unosefa tsvina kubva muropa rako uye unobatsira kuchengetedza huwandu hwakakodzera hwemakemikari mumuviri wako. Zvisinei, kutadza kushanda kweitsvo hakuchinjiki, uye pakupedzisira kuisirwa itsvo kunodiwa .

Kuisirwa itsvo kunobudirira zvikuru kune vanhu vane cystinosis. Itsvo inopiwa haiunganidzi cystine . Zvisinei, cystine inogona kuungana mune dzimwe nhengo mumuviri wako. Saka, uchafanira kutora mishonga kweupenyu hwako hwese .

Pane migumisiro yakaipa here yekurapwa kwacho?

Mushonga we `(cysteamine)` une hwema hwakaipa zvishoma uye kuravira kusingafadzi . Nokudaro, vamwe vanhu vanogona kunzwa kuda kurutsa, kurutsa, uye chirungurira pavanenge vachitora mushonga uyu. `(cysteamine)` inogonawo kukonzera kuti mudumbu mugadzirwe acid yakawanda. Vamwe vanhu vanotora mishonga yakaita se `(proton pump inhibitors)` kuderedza acid yemudumbu. Izvi zvinogona kuderedza zviratidzo zvemudumbu. `(cysteamine)` inogonawo kukonzera mweya wakaipa `(halitosis)` uye mweya wakaipa.

Cystinosis inogona kudzivirirwa here?

Cystinosis chirwere chinokonzerwa nemajini, saka hachigone kudzivirirwa . Kana uine pamuviri kana kuti uchironga kubata pamuviri, ungangoda kufunga nezvekuongororwa kwemajini kuti uone kana mwana wako ari panjodzi yekubata chirwere ichi.

Ndeipi tarisiro yemunhu ane cystinosis? / Vanogona kurarama kwenguva yakareba sei?

Pane imwe nguva, nephropathic cystinosis yaive chirwere chinouraya vana vadiki. Asi nhasi uno, nekukura kwemushonga we cysteamine uye kufambira mberi kwekuisirwa itsvo, hupenyu hwevanhu vane cystinosis hwakawedzerwa kusvika vakura . Vamwe vanhu vanorarama kusvika pamakore anopfuura makumi mashanu.

Kuonekwa kwe cystinosis nekukurumidza kwakakosha. Nekurapwa kwakakodzera, chirwere ichi chinogona kudzorwa. Kana chikasarapwa, vana vane cystinosis vachave nekutadza kushanda kweitsvo pavanosvika makore gumi. Kunyangwe vachirapwa, vana vazhinji vachave nekutadza kushanda kweitsvo pavanenge vava vadiki kana kuti vachiri kuyaruka. Izvi zvinoda dialysis uye pakupedzisira kuisirwa itsvo.

Kana ukatora cysteamine, unofanira kuramba uchiitora kweupenyu hwako hwese . Tsvagiridzo yakaratidza kuti inogona kudzivirira matambudziko mazhinji ekupedzisira e cystinosis asina chekuita neitsvo.

Pakupedzisira, zvinhu zvekurangarira

Cystinosis chirwere chemajini chinogona kukonzera zviratidzo zvakasiyana-siyana. Kana chikaonekwa nekukurumidza uye chikarapwa nekukurumidza, kufambira mberi kwechirwere ichi kunogona kudzorwa zvakanyanya . Chirwere ichi chaimbouraya vana vadiki, ikozvino chinogona kurapwa nemishonga. Kunyangwe nemishonga, vanhu vane cystinosis vanopedzisira vaita kutadza kushanda kweitsvo uye vanoda kuisirwa itsvo. Zvisinei, vanhu vane chirwere ichi ikozvino vanorarama zvakanaka kusvika vakura.

Kana iwe kana mumwe munhu waunoziva aine zviratidzo izvi, zvakakosha zvikuru kutsvaga rubatsiro rwechiremba nekukasika.Musazvidya moyo, asi zvakanaka kuti munhu wese azive nezvezvinhu zvakaita seizvi.

cystinosis, cystine, chirwere cheitsvo, chirwere chemajini, Fanconi syndrome, cysteamine, chirwere cheitsvo, chirwere chemajini, hutano hwevana