Ingabe une-cystine eyakheke ngaphakathi kwamaseli omzimba wakho? Lokhu kubizwa ngokuthi i-cystinosis!

Cabanga nje, bekuzokwenzekani uma i-amino acid ebizwa ngokuthi `(cystine)` (cysteine) iqala ukuqongelela ngaphakathi kwamaseli amancane emzimbeni wethu? Leso yisimo esibizwa ngokuthi `(Cystinosis). Lesi yisifo esingavamile sofuzo esingabonwa njalo, kodwa kufanele sibhekwe njengesibaluleke kakhulu. Uma `(cystine)` iqongelela kakhulu ngaphakathi kwamaseli, lawo maseli angonakala. Ngokuqondile, le `(cystine)` ibangela ukwakheka kwamakristalu amancane ngaphakathi kwamaseli, futhi lapho eqongelela, abangela izinkinga ezithweni nasezicutshini ezahlukahlukene emzimbeni wethu. Ake sixoxe ngale `(Cystinosis)` ngokuningiliziwe futhi namuhla, kulungile?

Kuyini i-Cystinosis? Ake siqonde kahle!

Kalula nje, i-cystinosis yisimo sofuzo . Okwenzekayo kulokhu ukuthi i-amino acid `(cystine)` (cysteine) iqoqana ngaphakathi kwamaseli ethu. Uyazi, ama-amino acid abaluleke kakhulu emzimbeni wethu. Kodwa-ke, uma le `(cystine)` ikhona ngokweqile kumaseli, iyingozi kumaseli. Ngenxa yale `(cystine)` eningi , amakristalu amancane afana nezinto ayakheka ngaphakathi kwamaseli. Lawa makristalu aqoqana kancane kancane futhi aqale ukulimaza izitho nezicubu ezahlukahlukene emzimbeni wethu.

I-Cystinosis ivame ukuthinta izinso namehlo . Kodwa-ke, ingalimaza nobuchopho, imisipha, isibindi, i-thyroid, i-pancreas, kanye nakwabesilisa, amasende.

Lokhu akuvamile kakhulu, okusho ukuthi kuthinta cishe umuntu oyedwa kwabayinkulungwane. Kodwa-ke, kuyisifo esibi kakhulu, esihlala isikhathi eside . Kodwa-ke, uma siqashelwa kusenesikhathi futhi selashwa kahle, ukuqhubeka kanye nokuwohloka kwalesi sifo kungalawulwa kakhulu. Kodwa-ke, abantu abaningi bagcina benesifo sezinso esisesigabeni sokugcina futhi badinga ukufakelwa izinso.

Ingabe kunezinhlobo ezahlukene ze-cystinosis?

Yebo, kunezinhlobo ezintathu eziyinhloko ze-cystinosis. Lezi zinhlobo zihlukaniswa ngokweminyaka lapho izimpawu ziqala ukubonakala khona (okungukuthi, lapho lesi sifo saqala khona) kanye nobunzima bezimpawu.

1. I-Nephropathic cystinosis (uhlobo lwezingane)

Lolu uhlobo oluvame kakhulu . Cishe abantu abangu-95% abane-cystinosis banalolu hlobo. Luphinde lube uhlobo olubi kakhulu . Lubizwa nangokuthi i-infantile cystinosis.

Izingane ezinale `(Nephropathic cystinosis)` ziba nesimo esikhethekile esilimaza izinso . Sibizwa ngokuthi `(renal Fanconi syndrome)`. Kulesi simo, amaminerali nezinye izakhamzimba ezidingwa umzimba wethu azimuncwa kahle egazini, kodwa zikhishwa emchameni. Cabanga nje, lapho umzimba wengane encane ulahlekelwa yizinto ozidingayo ngale ndlela,Ukukhula komntwana kuyaphazamiseka, amathambo aba buthakathaka, angase agobe (lokhu kubizwa nangokuthi "ama-rickets"), futhi kungase kube nezinye izinkinga eziningi.

Ngokuvamile, lapho eneminyaka emibili , amakristalu e-cystine aqala ukwakheka ku-cornea yamehlo engane. Lawa makristalu ayaqoqana, futhi ngokuhamba kwesikhathi, amehlo ayazwela ekukhanyeni (i-photophobia). Lokhu kungabangela ubuhlungu obukhulu bamehlo nokungakhululeki . Kufana namehlo aphenduka aluhlaza okwesibhakabhaka lapho evezwa ukukhanya kwelanga.

Izingane ezinalesi sifo (i-Nephropathic cystinosis) zidinga ngempela ukufakelwa izinso. Uma zingelashwa, izinso zingase zingabi namandla ngokuphelele lapho zineminyaka eyi-10. Kodwa-ke, uma zilashwa kahle, lezi zingane zingaphila zize zibe abantu abadala zinekhwalithi enhle yokuphila.

2. I-cystinosis ephakathi nendawo (uhlobo lokuqala kwentsha)

Lokhu kubizwa nangokuthi i-cystinosis yentsha noma yentsha. Izimpawu zifana neze-cystinosis yosana, kodwa izimpawu zivela ebuntwaneni noma ebusheni . Izimpawu zingaba zincane noma zibe zimbi kakhulu ngokuhamba kwesikhathi.

Abantu abanalolu hlobo lwe-cystinosis ekugcineni bazodinga ukufakelwa izinso. Uma zingelashwa, izinso zingase zingasebenzi kahle zingakapheli iminyaka eyi-15-25 .

3. I-cystinosis engeyona i-nephropathy (uhlobo oluthinta amehlo kuphela)

Lokhu kubizwa nangokuthi i-benign cystinosis, noma i-ocular cystinosis. Lolu hlobo luthinta amehlo kuphela . Amakristalu e-Cystine akheka ku-cornea yeso, okubangela i-photophobia. Kodwa-ke, abantu abaningi abanalolu hlobo abanawo umonakalo wezinso noma ezinye izimpawu .

Ubudala lapho lesi simo sitholakala khona (i-Non-nephropathy cystinosis) bungahlukahluka, njengoba izimpawu zingavami kakhulu. Kodwa-ke, ngokuvamile sithinta abantu abadala abaseminyakeni ephakathi.

Ubani othola i-cystinosis?

I-Cystinosis yisimo sofuzo esingathinta noma ubani . Lesi sifo sizuzwe njengefa ngendlela yokubuyisa i-autosomal. Lokhu kusho ukuthi bobabili abazali kumele baphathe i-gene eguquliwe yesifo . Uma bobabili abazali bengabathwali be-gene eguquliwe (okusho ukuthi abanazo izimpawu, kodwa bane-gene), banethuba elingama-25% (elilodwa kwabane) lokuba nomntwana one-cystinosis.

Sivame kangakanani lesi sifo?

I-Cystinosis iyisifo esingavamile kakhulu . Emhlabeni wonke, ithinta umuntu oyedwa kuphela kwabazalwa abayi-100,000 kuya kwabayi-200,000.

I-cystinosis iyithinta kanjani imizimba yethu?

I-Cystinosis yisifo esiseqenjini lezifo ezibizwa ngokuthi `(lysosomal storage disorder)`. Cabanga nje, ngaphakathi kwamaseli ethu kunezitho ezincane ezibizwa ngokuthi `(lysosomes)` . Lezi zifana namathini kadoti weseli. Ziphula izakhamzimba ezifana nama-carbohydrate, amaprotheni, namafutha. Amanye amaprotheni asebenza `(ama-enzyme)` futhi asiza umzimba ukuthi umunce lezi zakhamzimba. Amanye amaprotheni asebenza `(abathuthi)`. Okusho ukuthi, laba bathuthi bathatha okusele `(i-cystine)` kulezo zinto eziphukile ezivela kuma-lysosome.

Manje, uma ulahlekelwa yinye yalawo maprotheni okuthutha, i-`(cystine)` ayikwazi ukuphuma kuma-lysosome bese iqala ukunqwabelana ngaphakathi kwamaseli. Yilapho i-`(cystine)` yakha khona amaqoqo, alimaza izitho zomzimba.

Ziyini izimpawu ze-cystinosis?

Izimpawu kanye nobunzima bazo kuyahlukahluka kuye ngokuthi isifo siqala nini nokuthi sitholakala nini.

Izimpawu ze-nephropathy cystinosis (ifomu losana) zivame ukuqala ukuvela phakathi kwezinyanga eziyi-6 neziyi-18 ubudala , lapho izinso zilimele. Lezi yizimpawu eziyinhloko:

• Ukoma ngokweqile (i-polydipsia).
• Ukuchama ngokweqile (i-polyuria).
• Ukungalingani kwama-electrolyte emzimbeni.
• Ukuhlanza.
• Ukuphelelwa amanzi emzimbeni.
• Imfiva.

Ezinye izimpawu zingase zihlanganise:

• Ubuthakathaka bamathambo, ama-rickets.
• Ukwehluleka ukuchuma.
• Ukufiphala noma ukufiphala kwe-cornea yamehlo.
• Ukuzwela ukukhanya (i-photophobia).
• Ukukhubazeka kokubona.
• Ubunzima bokugwinya (i-dysphagia).

Izimpawu ze-cystinosis ephakathi (ifomu lentsha) zifana nezesimo sobuntwana. Kodwa-ke, ziqala ukuvela ebuntwaneni noma ebusheni. Futhi, izimpawu zingase zingabi zimbi kangako. Ezinye izimpawu ezingase zibonakale kuleli fomu zifaka:

• Ukukhathala, ukukhathala.
• Ubuthakathaka bemisipha.
• Isifo semisipha `(myopathy)` (myopathy).
• Ubude obufushane.
• Ukuthomba okulibazisekile.
• Ukungazali.

I-cystinosis yamehlo (i-cystinosis engeyona i-nephropathy) ithinta kuphela i-cornea yeso. I-Photophobia ngokuvamile iwukuphela kwesibonakaliso . Azikho izimpawu ezihlobene nezinso.

Yiziphi izimbangela ze-cystinosis?

Lokhu kungenxa yokuguquka kwezakhi zofuzo esakhiweni esibizwa ngokuthi i-CTNS.. Le gene `(CTNS)` iyala umzimba wethu ukuthi wenze iphrotheni ebizwa ngokuthi `(cystinosin)`. `(Cystinosin)` yiphrotheni yokuthutha okukhulunywe ngayo ngaphambili. Okusho ukuthi, umsebenzi wayo ukukhipha i-amino acid `(cystine)` kuma-lysosome.

Ngakho-ke, uma kukhona ukuguquka kwezakhi zofuzo ze-`(CTNS)`, kuba khona iphutha kuphrotheni ye-`(cystinosin)`. Ngemuva kwalokho, i-`(cystine)` ayikwazi ukuphuma kuma-lysosome bese iqala ukuqongelela. Yilapho ama-cyst akha khona futhi alimaze amaseli ezithweni zomzimba.

Sekuyisikhathi eside kuthiwa lokhu kuzuzwa njengefa "ngephethini yokubuyisa i-autosomal". Lokhu kusho ukuthi bobabili abazali kumele babe ngabathwali balesi sakhi sofuzo esiguquliwe (abanazo izimpawu) . Ingane izoba nalesi sifo kuphela uma bobabili abazali bezuza lesi sakhi sofuzo esiguquliwe.

I-Cystinosis itholakala kanjani?

Udokotela wakho uzokubuza ngezimpawu zakho kanye nomlando wezokwelapha womndeni. Uzobe esekwenza ukuhlolwa ngokomzimba bese eyala ukuhlolwa okuningana ukuze kutholakale lesi simo.

Yiziphi izivivinyo ezenziwayo ngalokhu?

Udokotela angenza lezi zivivinyo:

• Ukuhlolwa kwegazi: Kuthathwa isampula yegazi lakho bese kuhlolwa izinga le-cystine emangqamuzaneni amhlophe egazi.
• Ukuhlolwa kwezakhi zofuzo: Isazi sezakhi zofuzo sizohlola izinguquko ku-gene yakho ye-CTNS.
• Ukuhlolwa Komchamo: Kuthathwa isampula yomchamo bese kuhlolwa amaminerali amaningi, izakhamzimba, usawoti, kanye nama-amino acid.
• Ukuhlolwa kwamehlo: Udokotela wamehlo uzosebenzisa i-microscope ekhethekile (isibani esiqhekekile) ukuze abheke amakristalu e-cystine ku-cornea yakho.

Uma ukhulelwe futhi othile emndenini wakho ene-cystinosis, futhi nobabili wena nomlingani wakho nitholakala ningabathwali, ukuhlolwa kokukhulelwa, njenge-amniocentesis, kungenziwa ukuze kutholakale ukuthi ingane yakho inalesi sifo . Lokhu kuhilela ukuthatha isampula yamaseli avela ku-amniotic fluid ezungeze ingane bese uhlola amazinga e-cystine.

Okunye ukuhlolwa okubizwa ngokuthi ``chorionic villus sampling`` nakho kungasetshenziswa. Lokhu kuhlola amaseli aku-placenta.

Yiziphi izindlela zokwelapha i-cystinosis?

Umuthi obizwa ngokuthi i-Cysteamine

Ukwelashwa okuyinhloko kwe-cystinosis umuthi obizwa ngokuthi i-cysteamine . Lona umuthi oqeda i-cystine. Lokhu kusho ukuthi wehlisa amazinga e-cystine emaseli akho.

Uma lo muthi `(i-cysteamine)` uqalwa kusenesikhathi, ukulimala kwezinso kungalawulwa kakhulu futhi kubambezeleke.Lo muthi usize ekubambezeleni isidingo sokufakelwa izinso. Ezinye izingane zikwazile ukubambezela ukufakelwa izinso kuze kube yilapho sezikhulile. Futhi, lo muthi uthuthukisa ukukhula kwezingane ezinesifo.

Kunezinhlobo ezimbili ze-`(Cysteamine)`: `(Cystagon™)` kanye ne-`(Procysbi™)` (lawa amagama emikhiqizo). `(Cystagon™)` kufanele ithathwe njalo emahoreni ayisithupha. `(Procysbi™)` (kulabo abaneminyaka engaphezu kwengu-6 ubudala) ine-coating ekhethekile, ngakho-ke ingathathwa njalo emahoreni ayi-12.

Umuthi ojwayelekile `(cysteamine)` awuphathi amakristalu `(cystine)` ku-cornea yeso. Ngenxa yalokhu, kunezinhlobo ezimbili zamaconsi amehlo `(cysteamine)` avunyelwe yi-US Food and Drug Administration `(FDA): `(Cystaran™)` kanye `(Cystadrops™)`. Lawa maconsi kufanele asetshenziswe cishe kanye ngehora ngenkathi uvukile. Ancibilikisa amakristalu ku-cornea futhi anciphise ukuzwela ekukhanyeni.

Ezinye izindlela zokwelapha

Izingane ezine-cystinosis zingadinga ezinye izindlela zokwelapha, kuye ngezimpawu zazo. Ukwelashwa kwe-Fanconi syndrome kufaka phakathi:

• Phuza amanzi amaningi kanye nama-electrolyte (ukuvimbela ukulahlekelwa amanzi ngokweqile emzimbeni).
• Umuthi wokugcina ibhalansi kasawoti emzimbeni.
• Umuthi wokulungisa iphutha ekumuncweni kwe-phosphate yizinso.

Ezinye izindlela zokwelapha i-cystinosis zihlanganisa:

• Ukwelashwa ngama-hormone okukhula.
• Uma unesifo sikashukela esincike ku-insulin, udinga i-insulin.
• I-Testosterone yamadoda ane-hypogonadism.
• Ukwelashwa kwenkulumo nolimi.
• Ukwelulekwa kwezakhi zofuzo.

Ezinye izingane ezinenkinga yokudla zingadinga ukuphakelwa ngepayipi (ipayipi lokugaya ukudla). Leli payipi lisetshenziselwa ukunikeza ukudla okunempilo nokunikeza imithi.

I-cystinosis yeso, ethinta amehlo kuphela, ingelashwa ngezindlela ezilandelayo:

• Ukugwema ukukhanya okukhulu.
• Ukugqoka izibuko zelanga.
• Ukugcina amehlo emanzi.
• Akuvamile kakhulu, ukufakelwa i-cornea kungadingeka.

Ukufakelwa kwezinso

Ngisho noma kutholakala futhi kwelashwa kusenesikhathi, abantu abane-nephropathy kanye ne-intermediate cystinosis bagcina sebenenkinga yokwehluleka kwezinso. Ekuqaleni, udokotela wakho angase elaphe ukwehluleka kwezinso nge-dialysis. I-Dialysis umshini othatha eminye yemisebenzi eyenziwa yizinso zakho. Ihlunga imfucuza egazini lakho futhi isize ekugcineni amazinga afanele amakhemikhali athile emzimbeni wakho. Kodwa-ke, ukwehluleka kwezinso akunakulungiseka, futhi ekugcineni kudingeka ukufakelwa izinso .

Ukufakelwa izinso kuphumelela kakhulu kubantu abane-cystinosis. Izinso ezinikelwe aziqongeleli i-cystine . Kodwa-ke, i-cystine isengaqongeleleka kwezinye izitho zomzimba wakho. Ngakho-ke, kuzodingeka uthathe imithi impilo yakho yonke .

Ingabe ikhona imiphumela emibi yokwelashwa?

Umuthi `(cysteamine)` unephunga elibi kancane kanye nokunambitheka okungathandeki . Ngakho-ke, abanye abantu bangase babe nesicanucanu, ukuhlanza, kanye nesilungulela lapho bethatha lo muthi. `(cysteamine)` ingabangela nokuthi kukhiqizwe i-asidi yesisu eningi. Abanye abantu bathatha imithi efana `(proton pump inhibitors)` ukunciphisa i-asidi yesisu. Lokhu kunganciphisa izimpawu zabo zesisu. `(cysteamine)` ingabangela nokuphefumula okubi `(halitosis)` kanye nokuphefumula okubi.

Ingabe i-cystinosis ingavinjelwa?

I-Cystinosis yisimo sofuzo, ngakho-ke ayinakuvinjelwa . Uma ukhulelwe noma uhlela ukukhulelwa, ungase uthande ukucabangela ukuhlolwa kofuzo ukuze uthole ukuthi ingane yakho isengozini yokuthola lesi sifo.

Uyini umbono womuntu one-cystinosis? / Angaphila isikhathi esingakanani?

Ngesinye isikhathi, i-nephropathy cystinosis yayiyisifo esibulalayo ezinganeni ezincane. Kodwa namuhla, ngokuthuthukiswa kwesidakamizwa i-cysteamine kanye nokuthuthuka kokufakelwa kwezinso, isikhathi sokuphila sabantu abane-cystinosis sesandisiwe saze saba abantu abadala . Abanye abantu baphila iminyaka engaphezu kwengu-50 ubudala.

Kubalulekile ukutholakala kwe-cystinosis kusenesikhathi. Ngokwelashwa okufanele, lesi sifo singalawulwa. Uma singalashwa, izingane ezine-cystinosis zizoba nokwehluleka kwezinso lapho sezineminyaka eyi-10. Ngisho noma sezilashwe, izingane eziningi zizoba nokwehluleka kwezinso lapho sezikhulile noma sezikhulile. Lokhu kuzodinga i-dialysis futhi ekugcineni kufakwe izinso.

Uma uthatha i-cysteamine, udinga ukuqhubeka nokuyithatha impilo yakho yonke . Ucwaningo lukhombisile ukuthi ingavimbela izinkinga eziningi zakamuva ze-cystinosis ezingahlobene nezinso.

Okokugcina, izinto okufanele uzikhumbule

I-Cystinosis yisimo sofuzo esingabangela izimpawu ezahlukahlukene. Uma sitholakale kusenesikhathi futhi selashwa ngokushesha, ukuqhubeka kwalesi sifo kungalawulwa kakhulu . Lesi sifo esike saba sibi ezinganeni ezincane, manje sesingalashwa ngemithi. Ngisho nangemithi, abantu abane-cystinosis bagcina sebenenkinga yezinso futhi badinga ukufakelwa izinso. Kodwa-ke, abantu abanalesi sifo manje baphila kahle baze babe badala.

Uma wena noma othile omaziyo enalezi zimpawu, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha.Ungakhathazeki, kodwa kuhle ukuthi wonke umuntu azi izinto ezinjengalezi.

i- cystinosis, i-cystine, isifo sezinso, ukuphazamiseka kwezakhi zofuzo, i-Fanconi syndrome, i-cysteamine, isifo sezinso, isifo sezakhi zofuzo, impilo yengane