Kodi muli ndi cystine yomwe imasonkhana mkati mwa maselo a thupi lanu? Izi zimatchedwa cystinosis!

Tangoganizirani, chingachitike n’chiyani ngati amino acid yotchedwa `(cystine)` (cysteine) iyamba kusonkhana mkati mwa maselo ang’onoang’ono m’thupi lathu? Umenewo ndi mkhalidwe wotchedwa `(Cystinosis). Uwu ndi matenda osowa kwambiri omwe sapezeka kawirikawiri, koma ayenera kuonedwa kuti ndi ofunika kwambiri. Pamene `(cystine)` isonkhana kwambiri mkati mwa maselo, maselo amenewo amatha kuwonongeka. Kunena zoona, `(cystine)` iyi imayambitsa makhiristo ang’onoang’ono kupanga mkati mwa maselo, ndipo akasonkhana, amayambitsa mavuto m’ziwalo zosiyanasiyana ndi minofu m’thupi lathu. Tiyeni tikambirane za `(Cystinosis)` iyi mwatsatanetsatane komanso lero, chabwino?

Kodi Cystinosis ndi chiyani? Tiyeni timvetse bwino!

Mwachidule, cystinosis ndi matenda a majini . Chomwe chimachitika pamenepa ndi chakuti amino acid `(cystine)` (cysteine) imasonkhana mkati mwa maselo athu. Mukudziwa, ma amino acid ndi ofunikira kwambiri m'thupi lathu. Komabe, ngati `(cystine)` iyi ilipo yochulukirapo m'maselo, imakhala yovulaza maselo. Chifukwa cha `(cystine)` yochulukirapo , ma crystals ang'onoang'ono ngati zinthu amapangidwa mkati mwa maselo. Ma crystals awa amasonkhana pang'onopang'ono ndikuyamba kuwononga ziwalo ndi minofu yosiyanasiyana m'thupi lathu.

Matenda a cystinosis nthawi zambiri amakhudza impso ndi maso . Komabe, amathanso kuwononga ubongo, minofu, chiwindi, chithokomiro, kapamba, komanso mwa amuna, machende.

Izi sizichitika kawirikawiri, zomwe zikutanthauza kuti zimakhudza munthu m'modzi pa anthu chikwi. Komabe, ndi matenda oopsa kwambiri, omwe amakhalapo kwa moyo wonse . Komabe, ngati atazindikirika msanga ndikuchiritsidwa bwino, kupita patsogolo ndi kuipiraipira kwa matendawa kumatha kulamulidwa kwambiri. Komabe, anthu ambiri pamapeto pake amakhala ndi matenda a impso ndipo amafunika kuikidwa impso.

Kodi pali mitundu yosiyanasiyana ya cystinosis?

Inde, pali mitundu itatu ikuluikulu ya cystinosis. Mitundu iyi imagawidwa m'magulu kutengera zaka zomwe zizindikiro zimayamba kuwonekera (monga nthawi yomwe matendawa adayamba) komanso kuopsa kwa zizindikirozo.

1. Nephropathic cystinosis (mtundu wa ana)

Mtundu uwu ndi wofala kwambiri . Pafupifupi 95% ya anthu omwe ali ndi cystinosis ali ndi mtundu uwu. Ndi mtundu woopsa kwambiri . Umatchedwanso infantile cystinosis.

Makanda omwe ali ndi `(Nephropathic cystinosis)` iyi amakhala ndi vuto lapadera lomwe limawononga impso . Limatchedwa `(renal Fanconi syndrome)`. Mu vutoli, mchere ndi zakudya zina zomwe thupi lathu limafunikira sizimalowa bwino m'magazi, koma zimatulutsidwa mu mkodzo. Tangoganizirani, pamene thupi la mwana wamng'ono litaya zinthu zomwe limafunikira mwanjira iyi,Kukula kwa mwana kumachepa, mafupa amafooka, amatha kupindika (izi zimatchedwanso "ma rickets"), ndipo mavuto ena ambiri angachitike.

Kawirikawiri, akafika zaka ziwiri , makristalo a cystine amayamba kupangika m'maso mwa mwana. Makristalo amenewa amasonkhana, ndipo pakapita nthawi, maso amayamba kumva kuwala (photophobia). Izi zingayambitse kupweteka kwambiri kwa maso ndi kusasangalala . Zili ngati maso amasanduka abuluu akakhala ndi dzuwa.

Ana omwe ali ndi `(Nephropathic cystinosis)` iyi amafunika kuikidwa impso. Ngati salandira chithandizo, impso zimatha kusagwira ntchito bwino akafika zaka 10. Komabe, ngati atalandira chithandizo choyenera, ana awa akhoza kukhala ndi moyo wabwino mpaka akuluakulu.

2. Matenda apakati a cystinosis (mtundu wa ana oyambira)

Izi zimatchedwanso kuti cystinosis ya achinyamata kapena achinyamata. Zizindikiro zake zimafanana ndi za cystinosis ya ana aang'ono, koma zizindikiro zake zimawonekera kumapeto kwa ubwana kapena unyamata . Zizindikiro zake zimatha kukhala zochepa kapena kukhala zowopsa pakapita nthawi.

Anthu omwe ali ndi mtundu uwu wa cystinosis pamapeto pake adzafunika kuikidwa impso. Ngati sanalandire chithandizo, impso zimatha kusagwira ntchito bwino mkati mwa zaka 15-25 .

3. Matenda a cystinosis omwe si a nephropathy (mtundu womwe umakhudza maso okha)

Izi zimatchedwanso kuti benign cystinosis, kapena kuti ocular cystinosis. Mtundu uwu umakhudza maso okha . Makristalo a cystine amapangika mu cornea ya diso, zomwe zimayambitsa photophobia. Komabe, anthu ambiri omwe ali ndi mtundu uwu samakhala ndi vuto la impso kapena zizindikiro zina .

Zaka zomwe matendawa amapezeka (Non-nephropathy cystinosis) zimatha kusiyana, chifukwa zizindikiro zake sizimafala kwambiri. Komabe, nthawi zambiri zimakhudza akuluakulu azaka zapakati.

Ndani amadwala cystinosis?

Cystinosis ndi matenda a majini omwe angakhudze aliyense . Matendawa amabadwa nawo mu autosomal recessive pattern. Izi zikutanthauza kuti makolo onse awiri ayenera kunyamula jini yosinthika ya matendawa . Ngati makolo onse awiri ali ndi jini yosinthika (kutanthauza kuti alibe zizindikiro, koma ali ndi jini), ali ndi mwayi wa 25% (mmodzi mwa anayi) wokhala ndi mwana wokhala ndi cystinosis.

Kodi matendawa ndi ofala bwanji?

Matenda a Cystinosis ndi matenda osowa kwambiri . Padziko lonse lapansi, amakhudza munthu m'modzi yekha mwa ana 100,000 mpaka 200,000 obadwa.

Kodi cystinosis imakhudza bwanji thupi lathu?

Cystinosis ndi matenda omwe ali m'gulu la matenda otchedwa `(lysosomal storage disorder)`. Tangoganizirani, mkati mwa maselo athu muli tinthu tating'onoting'ono totchedwa `(lysosomes)` . Izi zili ngati zitini za zinyalala za selo. Zimaswa michere monga chakudya, mapuloteni, ndi mafuta. Mapuloteni ena amagwira ntchito ngati `(ma enzyme)` ndipo amathandiza thupi kuyamwa michere iyi. Mapuloteni ena amagwira ntchito ngati `(onyamula)`. Ndiko kuti, onyamula awa amatenga `(cystine)` yotsala kuchokera ku zinthu zomwe zasweka kuchokera ku lysosomes.

Tsopano, ngati mutataya imodzi mwa mapuloteni oyendera, `(cystine)` sangatuluke mu lysosomes ndipo imayamba kusonkhana mkati mwa maselo. Pamenepo ndi pomwe `(cystine)` imapanga magulu, omwe amawononga ziwalo.

Kodi zizindikiro za cystinosis ndi ziti?

Zizindikiro ndi kuopsa kwake zimasiyana malinga ndi msinkhu womwe matendawa amayambira komanso nthawi yomwe amapezeka.

Zizindikiro za nephropathic cystinosis (mawonekedwe a ana) nthawi zambiri zimayamba kuonekera pakati pa miyezi 6 ndi 18 , impso zikawonongeka. Zizindikiro zazikulu ndi izi:

• Ludzu lochuluka (polydipsia).
• Kukodza kwambiri (polyuria).
• Kusalinganika kwa ma electrolyte m'thupi.
• Kusanza.
• Kusowa madzi m'thupi.
• Malungo.

Zizindikiro zina zingaphatikizepo:

• Kufooka kwa mafupa, ma rickets.
• Kulephera kukula.
• Kutupa kapena kufinya kwa cornea ya maso.
• Kusamva kuwala (photophobia).
• Kulephera kuona bwino.
• Kuvuta kumeza (dysphagia).

Zizindikiro za cystinosis yapakati (mawonekedwe a achinyamata) zimafanana ndi za mawonekedwe a khanda. Komabe, zimayamba kuonekera kumapeto kwa ubwana kapena unyamata. Komanso, zizindikirozo zingakhale zochepa kwambiri. Zizindikiro zina zomwe zingawonekere mu mawonekedwe awa ndi izi:

• Kutopa, kutopa.
• Kufooka kwa minofu.
• Matenda a minofu `(myopathy)` (myopathy).
• Kutalika kwa msinkhu.
• Kuchedwa kutha msinkhu.
• Kusabereka.

Matenda a maso otchedwa cystinosis (non-nephropathy cystinosis) amakhudza cornea yokha ya diso. Nthawi zambiri photophobia ndiye chizindikiro chokhacho . Palibe zizindikiro zokhudzana ndi impso.

Kodi ndi zifukwa ziti za cystinosis?

Izi zimachitika chifukwa cha kusintha kwa majini mu jini yotchedwa CTNS.. Jini iyi ya `(CTNS)` imalangiza thupi lathu kupanga puloteni yotchedwa `(cystinosin)`. `(Cystinosin)` ndi puloteni yonyamula yomwe yatchulidwa kale. Ndiko kuti, ntchito yake ndikuchotsa amino acid `(cystine)` mu lysosomes.

Choncho, pakakhala kusintha kwa majini a `(CTNS)`, pamakhala vuto mu puloteni ya `(cystinosin)`. Kenako, `(cystine)` silingathe kutuluka mu lysosomes ndipo limayamba kudziunjikira. Pamenepo ndi pamene ma cysts amapanga ndikuwononga maselo m'ziwalo.

Kwa nthawi yayitali kwanenedwa kuti izi zimabadwa mu "autosomal recessive pattern". Izi zikutanthauza kuti makolo onse awiri ayenera kukhala onyamula jini yosinthika iyi (alibe zizindikiro) . Pokhapokha ngati makolo onse awiri alandira jini yosinthika iyi, mwanayo adzakhala ndi matendawa.

Kodi cystinosis imachiritsidwa bwanji?

Dokotala wanu adzakufunsani za zizindikiro zanu ndi mbiri ya matenda a m'banja mwanu. Kenako adzakuyesani thupi ndikulamula kuti muyesedwe kangapo kuti mudziwe vuto lanu.

Ndi mayeso ati omwe akuchitidwa pa izi?

Dokotala akhoza kuchita mayeso awa:

• Kuyezetsa magazi: Chitsanzo cha magazi anu chimatengedwa ndipo kuchuluka kwa cystine m'maselo oyera amagazi kumayesedwa.
• Kuyesa majini: Katswiri wa majini adzafufuza kusintha kwa majini anu a CTNS.
• Kusanthula mkodzo: Chitsanzo cha mkodzo chimatengedwa ndikuyang'aniridwa ngati pali mchere wochuluka, michere, mchere, ndi ma amino acid.
• Kuwunika maso: Dokotala wa maso adzagwiritsa ntchito maikulosikopu yapadera (nyali yodulidwa) kuti aone makristalo a cystine mu cornea yanu.

Ngati muli ndi pakati ndipo wina m'banja mwanu ali ndi cystinosis, ndipo inu ndi mnzanu mwapezeka kuti ndinu omwe ali ndi matendawa, kuyezetsa mwana asanabadwe, monga amniocentesis, kungachitike kuti mudziwe ngati mwana wanu ali ndi matendawa . Izi zimaphatikizapo kutenga zitsanzo za maselo kuchokera ku madzi amniotic ozungulira mwana ndikuyang'ana kuchuluka kwa cystine.

Mayeso ena otchedwa ``chorionic villus sampling`` angagwiritsidwenso ntchito. Izi zimayesa maselo omwe ali mu placenta.

Kodi mankhwala a cystinosis ndi ati?

Mankhwala otchedwa Cysteamine

Chithandizo chachikulu cha cystinosis ndi mankhwala otchedwa cysteamine . Ichi ndi mankhwala ochepetsa cystine. Izi zikutanthauza kuti amachepetsa kuchuluka kwa cystine m'maselo anu.

Ngati mankhwala awa `(cysteamine)` ayamba msanga, kuwonongeka kwa impso kungachedwetsedwe kwambiri ndikuchedwa.Mankhwalawa athandiza kuchedwetsa kufunika koika impso. Ana ena atha kuchedwetsa kuyika impso mpaka atakula. Komanso, mankhwalawa amathandiza kukula kwa ana omwe ali ndi matendawa.

Pali mitundu iwiri ya `(Cysteamine)`: `(Cystagon™)` ndi `(Procysbi™)` (awa ndi mayina a makampani). `(Cystagon™)` iyenera kumwedwa maola asanu ndi limodzi aliwonse. `(Procysbi™)` (kwa iwo opitirira zaka 6) ili ndi utoto wapadera, kotero imatha kumwedwa maola 12 aliwonse.

Mankhwala wamba `(cysteamine)` sachiza makhiristo a `(cystine)` mu cornea ya diso. Pachifukwa ichi, pali mitundu iwiri ya makhiristo a m'maso a `(cysteamine)` omwe avomerezedwa ndi US Food and Drug Administration `(FDA): `(Cystaran™)` ndi `(Cystadrops™)`. Makhiristo amenewa ayenera kugwiritsidwa ntchito kamodzi pa ola limodzi mukakhala maso. Amasungunula makhiristo mu cornea ndikuchepetsa mphamvu ya kuwala.

Mankhwala ena

Ana omwe ali ndi cystinosis angafunike chithandizo china, kutengera zizindikiro zawo. Chithandizo cha Fanconi syndrome ndi monga:

• Imwani madzi ambiri ndi ma electrolyte (kuti mupewe kutaya madzi ambiri m'thupi).
• Mankhwala osungira mchere m'thupi.
• Mankhwala okonza vuto la kuyamwa kwa phosphate ndi impso.

Mankhwala ena a cystinosis ndi awa:

• Chithandizo cha kukula kwa mahomoni.
• Ngati muli ndi matenda a shuga omwe amadalira insulin, muyenera kumwa mankhwala a insulin.
• Testosterone kwa amuna omwe ali ndi hypogonadism.
• Kuchiza ndi kulankhula.
• Uphungu wa majini.

Ana ena omwe amavutika kudya angafunike kudyetsedwa kudzera mu chubu (gastronomy tube). Chubuchi chimagwiritsidwa ntchito popereka zakudya zoyenera komanso kupereka mankhwala.

Matenda a maso otchedwa cystinosis, omwe amakhudza maso okha, amathanso kuchiritsidwa m'njira zotsatirazi:

• Kupewa kuwala kowala.
• Kuvala magalasi adzuwa.
• Kusunga maso onyowa.
• Kawirikawiri, kuyika cornea kungakhale kofunikira.

Kusamutsa impso

Ngakhale atapezeka msanga ndi kulandira chithandizo, anthu omwe ali ndi matenda a nephropathic ndi intermediate cystinosis pamapeto pake amalephera kugwira ntchito ya impso. Poyamba, dokotala wanu amatha kuchiza kulephera kwa impso pogwiritsa ntchito dialysis. Dialysis ndi makina omwe amatenga ntchito zina zomwe impso zanu zimachita. Amasefa zinyalala kuchokera m'magazi anu ndipo amathandiza kusunga kuchuluka koyenera kwa mankhwala ena m'thupi lanu. Komabe, kulephera kwa impso sikungasinthe, ndipo pamapeto pake amafunika kuikidwa impso .

Kusamutsa impso kumapindulitsa kwambiri kwa anthu omwe ali ndi cystinosis. Impso yoperekedwa siisonkhanitsa cystine . Komabe, cystine ikhoza kusonkhanabe m'ziwalo zina m'thupi lanu. Chifukwa chake, muyenera kumwa mankhwala moyo wanu wonse .

Kodi pali zotsatirapo zilizonse za mankhwalawa?

Mankhwala `(cysteamine)` ali ndi fungo loipa pang'ono komanso kukoma kosasangalatsa . Chifukwa chake, anthu ena amatha kumva nseru, kusanza, ndi kutentha pamtima akamamwa mankhwalawa. `(cysteamine)` ingayambitsenso kupanga asidi wambiri m'mimba. Anthu ena amamwa mankhwala monga `(proton pump inhibitors)` kuti achepetse asidi m'mimba. Izi zitha kuchepetsa zizindikiro zawo za m'mimba. `(cysteamine)` ingayambitsenso mpweya woipa m'kamwa `(halitosis)` ndi mpweya woipa m'kamwa.

Kodi cystinosis ikhoza kupewedwa?

Cystinosis ndi matenda a majini, kotero sangathe kupewedwa . Ngati muli ndi pakati kapena mukukonzekera kutenga pakati, mungafune kuganizira zoyezetsa majini kuti mudziwe ngati mwana wanu ali pachiwopsezo chotenga matendawa.

Kodi chiyembekezo cha munthu amene ali ndi cystinosis ndi chotani? / Kodi angakhale ndi moyo wautali bwanji?

Kale, matenda a nephropathy cystinosis anali matenda oopsa kwa ana aang'ono. Koma masiku ano, chifukwa cha chitukuko cha mankhwala a cysteamine komanso kupita patsogolo kwa kusamutsa impso, nthawi yoyembekezera ya moyo wa anthu omwe ali ndi cystinosis yawonjezeka mpaka atakula . Anthu ena amakhala ndi moyo mpaka zaka zoposa 50.

Kuzindikira msanga matenda a cystinosis n'kofunika. Ndi chithandizo choyenera, matendawa amatha kuthetsedwa. Ngati sanalandire chithandizo, ana omwe ali ndi cystinosis adzakhala ndi vuto la impso akafika zaka 10. Ngakhale atalandira chithandizo, ana ambiri adzakhala ndi vuto la impso ali ana kapena achinyamata. Izi zidzafunika dialysis ndipo pamapeto pake adzaikidwa impso.

Ngati mutenga cysteamine, muyenera kupitiriza kumwa kwa moyo wanu wonse . Kafukufuku wasonyeza kuti imatha kupewa mavuto ambiri omwe amayamba chifukwa cha cystinosis omwe sakhudzana ndi impso.

Pomaliza, zinthu zoti muzikumbukira

Cystinosis ndi matenda a majini omwe angayambitse zizindikiro zosiyanasiyana. Ngati atapezeka msanga ndikuchiritsidwa mwachangu, kupita patsogolo kwa matendawa kumatha kulamulidwa kwambiri . Matendawa akale amapha ana aang'ono, tsopano amatha kuchiritsidwa ndi mankhwala. Ngakhale ndi mankhwala, anthu omwe ali ndi cystinosis pamapeto pake amalephera kugwira ntchito ya impso ndipo amafunika kuikidwa impso. Komabe, anthu omwe ali ndi matendawa tsopano amakhala ndi moyo wabwino mpaka atakula.

Ngati inu kapena munthu amene mumamudziwa ali ndi zizindikiro izi, ndikofunikira kwambiri kufunafuna upangiri wa dokotala nthawi yomweyo.Musadandaule, koma ndi bwino kuti aliyense adziwe zinthu ngati izi.

cystinosis , cystine, matenda a impso, matenda a majini, Fanconi syndrome, cysteamine, matenda a impso, matenda a majini, thanzi la ana