Koj puas muaj cystine sib sau ua ke hauv koj lub cev cov cell? Qhov no hu ua cystinosis!

Xav txog seb, yuav muaj li cas yog tias ib qho amino acid hu ua '(cystine)' (cysteine) pib sib sau ua ke hauv cov hlwb me me hauv peb lub cev? Qhov ntawd yog qhov mob hu ua '(Cystinosis). Qhov no yog ib qho kab mob caj ces tsis tshua muaj uas tsis tshua pom, tab sis nws yuav tsum raug suav hais tias yog ib qho tseem ceeb heev. Thaum '(cystine)' sib sau ua ke ntau dhau hauv cov hlwb, cov hlwb ntawd tuaj yeem puas tsuaj. Yog hais kom meej, '(cystine)' no ua rau cov siv lead ua me me tsim hauv cov hlwb, thiab thaum lawv sib sau ua ke, lawv ua rau muaj teeb meem rau ntau yam kabmob thiab cov nqaij hauv peb lub cev. Cia peb tham txog '(Cystinosis)' no kom meej thiab yooj yim hnub no, puas yog?

Cystinosis yog dab tsi? Cia peb nkag siab meej!

Hais yooj yim xwb, cystinosis yog ib qho mob caj ces . Qhov tshwm sim hauv qhov no yog tias cov amino acid '(cystine)' (cysteine) sib sau ua ke hauv peb lub hlwb. Koj paub, cov amino acids tseem ceeb heev rau peb lub cev. Txawm li cas los xij, yog tias qhov '(cystine)' no muaj ntau dhau hauv cov hlwb, nws ua rau cov hlwb puas tsuaj. Vim yog qhov '(cystine)' ntau dhau no , cov khoom siv me me zoo li cov khoom tsim hauv cov hlwb. Cov khoom siv no maj mam sib sau ua ke thiab pib ua puas rau ntau yam kabmob thiab cov nqaij hauv peb lub cev.

Feem ntau mob cystinosis cuam tshuam rau lub raum thiab qhov muag . Txawm li cas los xij, nws kuj tseem tuaj yeem ua rau lub hlwb, cov leeg nqaij, lub siab, lub thyroid, lub txiav, thiab rau cov txiv neej, cov noob qes puas tsuaj.

Qhov no tsis tshua muaj, txhais tau tias nws cuam tshuam txog li ib ntawm ib txhiab tus neeg. Txawm li cas los xij, nws yog ib qho kab mob loj heev, kav ntev mus ib txhis . Txawm li cas los xij, yog tias nws raug lees paub thaum ntxov thiab kho kom zoo, qhov kev nce qib thiab kev hnyav zuj zus ntawm tus kab mob tuaj yeem tswj tau feem ntau. Txawm li cas los xij, ntau tus neeg thaum kawg muaj tus kab mob raum theem kawg thiab xav tau kev hloov raum.

Puas muaj ntau hom mob cystinosis?

Yog, muaj peb hom mob cystinosis tseem ceeb. Cov hom no raug faib ua pawg raws li hnub nyoog uas cov tsos mob pib tshwm sim (piv txwv li, thaum tus kab mob pib) thiab qhov hnyav ntawm cov tsos mob.

1. Mob cystinosis ntawm lub raum (hom menyuam yaus)

Qhov no yog hom mob uas feem ntau pom . Kwv yees li ntawm 95% ntawm cov neeg uas muaj cystinosis muaj hom mob no. Nws kuj yog hom mob hnyav tshaj plaws . Nws kuj tseem hu ua infantile cystinosis.

Cov menyuam mos uas muaj tus kab mob "Nephropathic cystinosis" no yuav muaj ib qho mob tshwj xeeb uas ua rau lub raum puas tsuaj . Nws hu ua "renal Fanconi syndrome". Hauv qhov mob no, cov zaub mov thiab lwm yam khoom noj uas peb lub cev xav tau tsis raug nqus mus rau hauv cov ntshav, tab sis raug tso tawm hauv cov zis. Xav txog, thaum ib tug menyuam yaus lub cev poob cov khoom uas nws xav tau li no,Tus me nyuam txoj kev loj hlob qeeb, cov pob txha tsis muaj zog, lawv yuav khoov (qhov no kuj hu ua "rickets"), thiab ntau lwm yam teeb meem tuaj yeem tshwm sim.

Feem ntau, thaum muaj hnub nyoog ob xyoos , cov cystine crystals pib tsim nyob rau hauv lub cornea ntawm tus menyuam lub qhov muag. Cov crystals no sib sau ua ke, thiab dhau sijhawm, lub qhov muag ua rau muaj kev rhiab heev rau lub teeb (photophobia). Qhov no tuaj yeem ua rau mob qhov muag heev thiab tsis xis nyob . Nws zoo li lub qhov muag tig xiav thaum raug tshav ntuj.

Cov menyuam yaus uas muaj tus kab mob "Nephropathic cystinosis" no yeej xav tau kev hloov raum. Yog tias tsis kho, cov raum yuav ua haujlwm tsis zoo thaum muaj hnub nyoog 10 xyoo. Txawm li cas los xij, yog tias kho kom zoo, cov menyuam no tuaj yeem nyob mus txog hnub nyoog laus nrog lub neej zoo.

2. Mob cystinosis theem nrab (hom mob thaum yau)

Qhov no kuj hu ua mob cystinosis thaum hluas lossis thaum hluas. Cov tsos mob zoo ib yam li mob cystinosis thaum yau, tab sis cov tsos mob tshwm sim thaum yau lig lossis thaum hluas . Cov tsos mob yuav tsis hnyav heev lossis yuav hnyav dua thaum lub sijhawm dhau mus.

Cov neeg uas muaj hom mob cystinosis no yuav tsum tau hloov raum. Yog tias tsis kho, lub raum yuav ua haujlwm tsis zoo li qub hauv 15-25 xyoo .

3. Mob cystinosis uas tsis yog mob nephropathic (hom uas tsuas cuam tshuam rau qhov muag xwb)

Qhov no kuj hu ua benign cystinosis, lossis ocular cystinosis. Hom no tsuas yog cuam tshuam rau lub qhov muag xwb . Cov cystine crystals tsim nyob rau hauv lub cornea ntawm lub qhov muag, ua rau photophobia. Txawm li cas los xij, feem ntau cov neeg uas muaj hom no tsis muaj kev puas tsuaj rau lub raum lossis lwm yam tsos mob .

Lub hnub nyoog uas kuaj pom tus mob no (Non-nephropathic cystinosis) yuav txawv, vim tias cov tsos mob tsis tshua muaj. Txawm li cas los xij, nws feem ntau cuam tshuam rau cov neeg laus hnub nyoog nruab nrab.

Leej twg thiaj mob cystinosis?

Cystinosis yog ib yam mob caj ces uas tuaj yeem cuam tshuam rau leej twg los tau . Tus kab mob no tau txais los ntawm noob caj ces hauv tus qauv autosomal recessive. Qhov no txhais tau tias ob leeg niam txiv yuav tsum nqa cov noob caj ces hloov pauv rau tus kab mob . Yog tias ob leeg niam txiv yog cov nqa cov noob caj ces hloov pauv (txhais tau tias lawv tsis muaj tsos mob, tab sis muaj cov noob caj ces), lawv muaj 25% (ib ntawm plaub) txoj kev muaj menyuam nrog cystinosis.

Kab mob no feem ntau tshwm sim li cas?

Kab mob Cystinosis yog ib yam kab mob tsis tshua muaj . Thoob ntiaj teb, nws tsuas cuam tshuam rau ib tus ntawm 100,000 txog 200,000 tus menyuam yug los.

Cystinosis cuam tshuam li cas rau peb lub cev?

Cystinosis yog ib yam kab mob uas koom nrog pawg kab mob hu ua '(lysosomal storage disorder)'. Xav txog seb, hauv peb lub hlwb muaj cov organelles me me hu ua '(lysosomes)' . Cov no zoo li cov thoob khib nyiab ntawm lub hlwb. Lawv rhuav tshem cov as-ham xws li carbohydrates, protein, thiab rog. Qee cov protein ua haujlwm ua '(enzymes)' thiab pab lub cev nqus cov as-ham no. Qee lwm cov protein ua haujlwm ua '(transporters)'. Ntawd yog, cov transporters no coj cov '(cystine)' seem ntawm cov khoom tawg tawm ntawm lysosomes.

Tam sim no, yog tias koj poob ib qho ntawm cov protein thauj mus los, '(cystine)' tsis tuaj yeem tawm ntawm lysosomes thiab pib sib sau ua ke hauv cov cell. Thaum ntawd '(cystine)' tsim cov pawg, uas ua rau cov kabmob puas tsuaj.

Cov tsos mob ntawm cystinosis yog dab tsi?

Cov tsos mob thiab qhov hnyav ntawm tus kab mob no sib txawv nyob ntawm lub hnub nyoog uas tus kab mob pib thiab thaum twg kuaj pom tias muaj tus kab mob no.

Cov tsos mob ntawm tus kab mob nephropathic cystinosis (hom menyuam yaus) feem ntau pib tshwm sim ntawm 6 thiab 18 lub hlis , thaum lub raum puas lawm. Nov yog cov tsos mob tseem ceeb:

• Kev nqhis dej ntau dhau (polydipsia).
• Kev tso zis ntau dhau (polyuria).
• Kev tsis sib npaug ntawm cov electrolyte hauv lub cev.
• Ntuav.
• Kev qhuav dej.
• Ua npaws.

Lwm cov tsos mob yuav muaj xws li:

• Kev qaug zog ntawm cov pob txha, rickets.
• Kev ua tsis tau zoo.
• Kev caws pliav lossis clouding ntawm lub cornea ntawm lub qhov muag.
• Kev rhiab heev rau lub teeb (photophobia).
• Kev tsis pom kev zoo.
• Nyuaj nqos (dysphagia).

Cov tsos mob ntawm tus kab mob intermediate cystinosis (cov menyuam yaus) zoo ib yam li cov menyuam yaus. Txawm li cas los xij, lawv pib tshwm sim thaum yau lossis thaum hluas. Tsis tas li ntawd, cov tsos mob yuav tsis hnyav heev. Lwm cov tsos mob uas yuav pom tau hauv daim ntawv no suav nrog:

• Qaug zog, nkees.
• Cov leeg tsis muaj zog .
• Kab mob leeg '(myopathy)' (myopathy).
• Luv luv.
• Kev laus zuj zus qeeb.
• Kev tsis muaj menyuam.

Kab mob Ocular cystinosis (non-nephropathic cystinosis) tsuas yog cuam tshuam rau lub cornea ntawm lub qhov muag xwb. Feem ntau cov tsos mob tsuas yog photophobia xwb . Tsis muaj cov tsos mob cuam tshuam nrog raum.

Dab tsi yog cov ua rau mob cystinosis?

Qhov no yog vim muaj kev hloov pauv caj ces hauv cov noob hu ua CTNS.Cov noob caj noob ces '(CTNS)' no qhia peb lub cev kom ua ib qho protein hu ua '(cystinosin)'. '(Cystinosin)' yog cov protein thauj khoom uas tau hais ua ntej. Ntawd yog, nws txoj haujlwm yog coj cov amino acid '(cystine)' tawm ntawm cov lysosomes.

Yog li, thaum muaj kev hloov pauv hauv cov noob '(CTNS)', muaj qhov tsis zoo hauv cov protein '(cystinosin)'. Tom qab ntawd, '(cystine)' tsis tuaj yeem tawm ntawm lysosomes thiab pib sib sau ua ke. Thaum ntawd cov cysts tsim thiab ua puas rau cov hlwb hauv cov kabmob.

Tau ntev lawm hais tias qhov no yog tau txais los ntawm ib qho "autosomal recessive pattern". Qhov no txhais tau hais tias ob leeg niam txiv yuav tsum yog cov neeg nqa cov noob caj noob ces hloov pauv no (lawv tsis muaj tsos mob) . Tsuas yog tias ob leeg niam txiv tau txais cov noob caj noob ces hloov pauv no ces tus menyuam yuav muaj tus kab mob no.

Yuav kuaj mob cystinosis li cas?

Koj tus kws kho mob yuav nug koj txog koj cov tsos mob thiab keeb kwm kev mob nkeeg hauv tsev neeg. Tom qab ntawd nws yuav kuaj lub cev thiab xaj ntau yam kev kuaj mob los kuaj mob.

Yuav ua li cas thiaj kuaj tau qhov no?

Tus kws kho mob yuav ua cov kev kuaj no:

• Kuaj ntshav: Yuav muab ib qho qauv ntawm koj cov ntshav thiab kuaj xyuas qib ntawm cystine hauv cov qe ntshav dawb.
• Kev kuaj noob caj noob ces: Tus kws kho mob noob caj noob ces yuav kuaj xyuas seb puas muaj kev hloov pauv hauv koj cov noob caj noob ces (CTNS).
• Kev Kuaj Zis: Yuav muab cov zis kuaj thiab xyuas seb puas muaj cov zaub mov ntau dhau, cov as-ham, ntsev, thiab cov amino acids.
• Kev kuaj qhov muag: Tus kws kho qhov muag yuav siv lub tshuab tsom iav tshwj xeeb (lub teeb ci) los nrhiav cov cystine crystals hauv koj lub cornea.

Yog tias koj cev xeeb tub thiab ib tug neeg hauv koj tsev neeg muaj mob cystinosis, thiab koj thiab koj tus khub raug pom tias yog cov neeg nqa kab mob, kev kuaj ua ntej yug menyuam, xws li amniocentesis, tuaj yeem ua tau los nrhiav seb koj tus menyuam puas muaj tus kab mob . Qhov no suav nrog kev coj cov qe ntshav los ntawm cov kua dej amniotic nyob ib puag ncig tus menyuam thiab kuaj xyuas cov cystine.

Kuj siv tau lwm yam kev kuaj hu ua "chorionic villus sampling" thiab. Qhov no kuaj cov qe ntshav hauv lub placenta.

Cov kev kho mob rau cystinosis yog dab tsi?

Cov tshuaj hu ua Cysteamine

Kev kho mob tseem ceeb rau cystinosis yog tshuaj hu ua cysteamine . Qhov no yog ib yam tshuaj uas ua rau cystine tsis ua haujlwm. Qhov no txhais tau tias nws txo cov cystine hauv koj cov hlwb.

Yog tias cov tshuaj no 'cysteamine' pib siv thaum ntxov, kev puas tsuaj rau lub raum feem ntau yuav tswj tau thiab ncua sijhawm.Cov tshuaj no tau pab ncua qhov xav tau kev hloov raum. Ib txhia menyuam yaus tau muaj peev xwm ncua kev hloov raum kom txog thaum lawv loj hlob. Tsis tas li ntawd, cov tshuaj no txhim kho kev loj hlob ntawm cov menyuam yaus uas muaj tus kab mob.

Muaj ob hom `(Cysteamine)`: `(Cystagon™)` thiab `(Procysbi™)` (cov no yog cov npe lag luam). `(Cystagon™)` yuav tsum tau noj txhua rau teev. `(Procysbi™)` (rau cov neeg hnub nyoog tshaj 6 xyoos) muaj ib txheej tshwj xeeb, yog li nws tuaj yeem noj txhua 12 teev.

Cov tshuaj ib txwm muaj '(cysteamine)' tsis kho cov '(cystine)' uas muaj cov pob zeb hauv lub qhov muag. Rau qhov no, muaj ob hom '(cysteamine)' tshuaj qhov muag uas tau pom zoo los ntawm US Food and Drug Administration '(FDA): '(Cystaran™)' thiab '(Cystadrops™)'. Cov tshuaj no yuav tsum tau siv li ib teev ib zaug thaum koj tseem tsaug zog. Lawv yaj cov pob zeb hauv lub qhov muag thiab txo qhov rhiab heev rau lub teeb.

Lwm yam kev kho mob

Cov menyuam yaus uas muaj cystinosis yuav xav tau lwm yam kev kho mob, nyob ntawm lawv cov tsos mob. Kev kho mob rau Fanconi syndrome muaj xws li:

• Haus dej thiab electrolytes ntau ntau (kom tiv thaiv kev poob dej ntau dhau ntawm lub cev).
• Tshuaj kom tswj tau qhov sib npaug ntawm cov ntsev hauv lub cev.
• Tshuaj kho qhov tsis zoo ntawm kev nqus cov phosphate los ntawm lub raum.

Lwm yam kev kho mob rau cystinosis suav nrog:

• Kev kho mob hormone loj hlob.
• Yog tias koj muaj ntshav qab zib uas nyob ntawm insulin, koj yuav tsum tau txhaj tshuaj insulin.
• Testosterone yog siv rau cov txiv neej uas muaj hypogonadism, ib qho mob uas cov noob qes tsis ua haujlwm.
• Kev kho mob hais lus thiab lus.
• Kev sab laj txog caj ces.

Tej tus menyuam uas muaj teeb meem noj mov yuav tsum tau siv lub raj mis pub mov (gastronomy tube). Lub raj mis no siv los muab cov khoom noj khoom haus zoo thiab muab tshuaj rau lawv.

Kab mob Ocular cystinosis, uas tsuas yog cuam tshuam rau lub qhov muag xwb, kuj tseem tuaj yeem kho tau raws li cov hauv qab no:

• Tsis txhob cia lub teeb ci ntsa iab.
• Hnav tsom iav dub.
• Ua kom ob lub qhov muag noo.
• Tsis tshua muaj, tej zaum yuav tsum tau hloov lub qhov muag.

Kev hloov raum

Txawm tias nrhiav tau thiab kho thaum ntxov los xij, cov neeg uas muaj mob nephropathic thiab intermediate cystinosis thaum kawg yuav mob raum tsis ua haujlwm. Thaum xub thawj, koj tus kws kho mob yuav kho mob raum tsis ua haujlwm nrog kev ntxuav ntshav. Kev ntxuav ntshav yog lub tshuab uas siv qee yam haujlwm uas koj lub raum ua. Nws lim cov khoom pov tseg ntawm koj cov ntshav thiab pab tswj cov tshuaj lom neeg hauv koj lub cev kom zoo. Txawm li cas los xij, kev ua haujlwm raum tsis ua haujlwm yog qhov tsis rov qab tau, thiab thaum kawg yuav tsum tau hloov raum .

Kev hloov raum ua tau zoo heev rau cov neeg uas muaj cystinosis. Lub raum uas pub dawb tsis khaws cov cystine . Txawm li cas los xij, cystine tseem tuaj yeem khaws cia rau hauv lwm cov kabmob hauv koj lub cev. Yog li ntawd, koj yuav tsum noj tshuaj rau tas koj lub neej .

Puas muaj tej yam tshwm sim ntawm kev kho mob?

Cov tshuaj '(cysteamine)' muaj ntxhiab tsw phem me ntsis thiab saj tsis zoo . Yog li ntawd, qee tus neeg yuav xeev siab, ntuav, thiab mob plab thaum noj cov tshuaj no. '(cysteamine)' kuj tseem ua rau cov kua qaub hauv plab ntau dhau. Qee tus neeg noj cov tshuaj xws li '(proton pump inhibitors)' kom txo cov kua qaub hauv plab. Qhov no tuaj yeem txo lawv cov tsos mob ntawm txoj hnyuv. '(cysteamine)' kuj tseem ua rau ua pa phem '(halitosis)' thiab ua pa phem.

Puas tiv thaiv tau cystinosis?

Kab mob Cystinosis yog ib yam mob uas muaj los ntawm noob caj noob ces, yog li ntawd peb tsis tuaj yeem tiv thaiv tau . Yog tias koj cev xeeb tub lossis npaj yuav cev xeeb tub, tej zaum koj yuav xav txog kev kuaj noob caj noob ces kom paub seb koj tus menyuam puas muaj feem yuav mob.

Yuav ua li cas rau ib tug neeg uas muaj cystinosis? / Lawv yuav muaj sia nyob ntev npaum li cas?

Muaj ib zaug, tus kab mob nephropathic cystinosis yog ib yam kab mob uas ua rau cov menyuam yaus tuag taus. Tab sis niaj hnub no, nrog rau kev tsim cov tshuaj cysteamine thiab kev hloov raum kom zoo, lub neej ntawm cov neeg uas muaj tus kab mob cystinosis tau ntev mus txog thaum lawv laus . Ib txhia neeg nyob tau tshaj 50 xyoo.

Kev kuaj pom tus kab mob cystinosis thaum ntxov yog ib qho tseem ceeb. Yog tias kho kom zoo, tus kab mob yuav tswj tau. Yog tias tsis kho, cov menyuam yaus uas muaj cystinosis yuav muaj lub raum tsis ua haujlwm thaum muaj hnub nyoog 10 xyoo. Txawm tias tau kho los xij, ntau tus menyuam yaus yuav muaj lub raum tsis ua haujlwm thaum lawv tseem yog menyuam yaus lossis thaum lawv tseem hluas. Qhov no yuav xav tau kev ntxuav lub raum thiab thaum kawg yuav tsum tau hloov lub raum.

Yog koj noj cysteamine, koj yuav tsum noj nws mus tas li . Kev tshawb fawb tau qhia tias nws tuaj yeem tiv thaiv ntau yam teeb meem ntawm cystinosis uas tsis muaj feem cuam tshuam rau lub raum.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Kab mob Cystinosis yog ib yam mob uas muaj los ntawm noob caj noob ces uas ua rau muaj ntau yam tsos mob. Yog tias kuaj pom thaum ntxov thiab kho sai, ces kev loj hlob ntawm tus kab mob no yuav tswj tau feem ntau . Ib zaug ua rau cov menyuam yaus tuag taus, tam sim no tus kab mob no tuaj yeem kho tau nrog tshuaj. Txawm tias siv tshuaj los xij, cov neeg uas muaj kab mob cystinosis thaum kawg yuav mob raum thiab yuav tsum tau hloov raum. Txawm li cas los xij, cov neeg uas muaj tus kab mob no tam sim no nyob zoo mus txog thaum laus.

Yog tias koj lossis ib tus neeg koj paub muaj cov tsos mob no, nws yog ib qho tseem ceeb heev uas yuav tsum nrhiav kev pab kho mob tam sim ntawd.Tsis txhob txhawj, tab sis nws zoo rau txhua tus kom paub txog tej yam zoo li no.

cystinosis , cystine, kab mob raum, kev mob caj ces, Fanconi syndrome, cysteamine, kab mob raum, kab mob caj ces, kev noj qab haus huv ntawm menyuam yaus