Ingaba une-cystine eyakheke ngaphakathi kwiiseli zomzimba wakho? Oku kubizwa ngokuba yi-cystinosis!

Khawucinge nje, bekuya kwenzeka ntoni ukuba i-amino acid ebizwa ngokuba yi-`(cystine)` (cysteine) iqala ukuqokelelana ngaphakathi kweeseli ezincinci emzimbeni wethu? Leyo yimeko ebizwa ngokuba yi-`(Cystinosis). Esi sisifo esingaqhelekanga semfuza esingabonwa rhoqo, kodwa kufuneka sithathwe njengesibaluleke kakhulu. Xa i-`(cystine)` iqokelelana kakhulu ngaphakathi kweeseli, ezo seli zinokonakala. Ngokuchanekileyo, le `(cystine)` ibangela ukuba iikristale ezincinci zenziwe ngaphakathi kweeseli, kwaye xa ziqokelelana, zibangela iingxaki kwizitho ezahlukeneyo kunye nezicubu emzimbeni wethu. Makhe sithethe ngale `(Cystinosis)` ngokweenkcukacha nangokulula namhlanje, kulungile?

Yintoni iCystinosis? Masiqonde kakuhle!

Ngamafutshane, i-cystinosis yimeko yemfuza . Okwenzekayo koku kukuba i-amino acid `(cystine)` (cysteine) iqokelelana ngaphakathi kweeseli zethu. Uyazi, ii-amino acids zibaluleke kakhulu emzimbeni wethu. Nangona kunjalo, ukuba le `(cystine)` ikhona kwiiseli ezininzi, iyingozi kwiiseli. Ngenxa yoku `(cystine)` engaphezulu , iikristale ezincinci ezifana nezinto ziyakheka ngaphakathi kweeseli. Ezi kristale ziqokelelana kancinci kancinci kwaye ziqale ukonakalisa amalungu kunye nezicubu ezahlukeneyo emzimbeni wethu.

I-Cystinosis idla ngokuchaphazela izintso namehlo . Nangona kunjalo, inokonakalisa ingqondo, izihlunu, isibindi, i-thyroid, i-pancreas, nakumadoda, amasende.

Oku kunqabile kakhulu, nto leyo ethetha ukuba kuchaphazela umntu omnye kwabaliwaka. Nangona kunjalo, sisifo esibi kakhulu, esihlala ixesha elide . Nangona kunjalo, ukuba siqatshelwe kwangethuba kwaye sinyangwa ngokufanelekileyo, ukuqhubeka kwaso kunye nokwanda kwaso kunokulawulwa kakhulu. Nangona kunjalo, abantu abaninzi ekugqibeleni baba nesifo sezintso esikwinqanaba lokugqibela kwaye badinga ukufakelwa izintso.

Ngaba kukho iintlobo ezahlukeneyo ze-cystinosis?

Ewe, kukho iintlobo ezintathu eziphambili ze-cystinosis. Ezi ntlobo zahlulwe ngokweminyaka apho iimpawu zaqala ukubonakala khona (oko kukuthi, xa isifo saqala) kunye nobunzima beempawu.

1. I-Nephropathic cystinosis (uhlobo losana)

Olu lolona hlobo luxhaphakileyo . Malunga nama-95% abantu abane-cystinosis banalo olu hlobo. Lukwalolona hlobo lubi kakhulu . Lukwabizwa ngokuba yi-infantile cystinosis.

Iintsana ezinale `(Nephropathic cystinosis)` ziba nemeko ekhethekileyo eyonakalisa izintso . Ibizwa ngokuba yi`(renal Fanconi syndrome)`. Kule meko, iiminerali kunye nezinye izondlo ezidingwa ngumzimba wethu azifunxwa kakuhle egazini, kodwa zikhutshwa emchameni. Khawuthelekelele, xa umzimba womntwana omncinci ulahlekelwa zizinto ozifunayo ngale ndlela,Ukukhula komntwana kuyaphazamiseka, amathambo aba buthathaka, asenokugoba (oku kukwabizwa ngokuba yi-"rickets"), kwaye kukho nezinye iingxaki ezininzi.

Ngokwesiqhelo, xa eneminyaka emibini ubudala , iikristale ze-cystine ziqala ukwakheka kwi-cornea yamehlo omntwana. Ezi kristale ziyaqokelelana, kwaye ngokuhamba kwexesha, amehlo ayasabela ekukhanyeni (photophobia). Oku kunokubangela iintlungu ezinkulu zamehlo kunye nokungonwabi . Kufana namehlo ajika abe luhlaza okwesibhakabhaka xa evezwa lilanga.

Abantwana abanale `(Nephropathic cystinosis)` ngokuqinisekileyo badinga ukufakelwa izintso. Ukuba azinyangwa, izintso zinokungasebenzi kakuhle xa zineminyaka eli-10 ubudala. Nangona kunjalo, ukuba zinyangwa ngokufanelekileyo, aba bantwana banokuphila ubomi obuqhelekileyo baze babe ngabantu abadala.

2. I-cystinosis ephakathi (uhlobo lokuqala kolutsha)

Oku kukwabizwa ngokuba yi-adolescent okanye juvenile cystinosis. Iimpawu ziyafana nezo ze-infantile cystinosis, kodwa iimpawu zibonakala ebuntwaneni okanye ebusheni . Iimpawu zinokuba buthathaka okanye zibe nzima ngakumbi ngokuhamba kwexesha.

Abantu abanolu hlobo lwe-cystinosis ekugqibeleni baya kufuna ukufakelwa izintso. Ukuba azinyangwa, izintso zinokungasebenzi kakuhle ngokupheleleyo kwiminyaka eli-15-25 .

3. I-cystinosis engeyiyo i-nephropathy (uhlobo oluchaphazela amehlo kuphela)

Oku kukwabizwa ngokuba yi-benign cystinosis, okanye i-ocular cystinosis. Olu hlobo luchaphazela amehlo kuphela . Iikristale ze-Cystine zenzeka kwi-cornea yeliso, zibangela i-photophobia. Nangona kunjalo, uninzi lwabantu abanalo olu hlobo abanayo imiphumo emibi yezintso okanye ezinye iimpawu .

Ubudala apho esi sifo sichongwa khona (i-Non-nephropathy cystinosis) bunokwahluka, njengoko iimpawu zingaqhelekanga. Nangona kunjalo, ngokuqhelekileyo ichaphazela abantu abadala abaneminyaka ephakathi.

Ngubani ofumana i-cystinosis?

I-Cystinosis yimeko yemfuza enokuchaphazela nabani na . Esi sifo sizuzwe njengelifa kwi-autosomal recessive pattern. Oku kuthetha ukuba bobabini abazali kufuneka baphathe i-gene eguquliweyo yesifo . Ukuba bobabini abazali bangabathwali be-gene eguquliweyo (oko kuthetha ukuba abanazo iimpawu, kodwa banayo i-gene), banethuba elingama-25% (inye kwabane) lokuba nomntwana one-cystinosis.

Ixhaphake kangakanani le sifo?

I-Cystinosis sisifo esingaqhelekanga . Ehlabathini lonke, sichaphazela umntu omnye kuphela kwi-100,000 ukuya kwi-200,000 yokuzalwa.

I-cystinosis iyichaphazela njani imizimba yethu?

I-Cystinosis sisifo esikwiqela lezifo ezibizwa ngokuba yi-`(lysosomal storage disorder)`. Khawuthelekelele, ngaphakathi kweeseli zethu kukho ii-organelles ezincinci ezibizwa ngokuba yi-`(lysosomes)` . Ezi zifana neembiza zenkunkuma zeseli. Ziqhekeza izondlo ezifana neecarbohydrate, iiproteni, kunye namafutha. Ezinye iiproteni zisebenza njenge-`(ii-enzymes)` kwaye zinceda umzimba ukuba ufunxe ezi zondlo. Ezinye iiproteni zisebenza njenge-`(abathuthi)`. Oko kukuthi, ezi zithuthi zithatha intsalela ye-`(cystine)` kwizinto eziqhekekileyo ezivela kwi-lysosomes.

Ngoku, ukuba ulahlekelwa yenye yezo proteni zothutho, i-`(cystine)` ayinakuphuma kwi-lysosomes ize iqale ukuqokelelana ngaphakathi kwiiseli. Kulapho i-`(cystine)` idala amaqela, awonakalisa amalungu omzimba.

Ziziphi iimpawu ze-cystinosis?

Iimpawu kunye nobunzima bazo ziyahluka ngokuxhomekeke kwiminyaka esiqala ngayo esi sifo kunye nexesha esichongiweyo ngalo.

Iimpawu ze-nephropathic cystinosis (uhlobo losana) zihlala ziqala ukubonakala phakathi kweenyanga ezi-6 ukuya kwezi-18 ubudala , xa izintso zonakele. Ezi zezona mpawu ziphambili:

• Ukoma okugqithisileyo (i-polydipsia).
• Ukuchama kakhulu (i-polyuria).
• Ukungalingani kwe-electrolyte emzimbeni.
• Ukuhlanza.
• Ukuphelelwa ngamanzi emzimbeni.
• Ifiva.

Ezinye iimpawu zingabandakanya:

• Ubuthathaka bamathambo, ii-rickets.
• Ukungaphumeleli ukukhula.
• Ukuvaleka okanye ukufiphala kwe-cornea yamehlo.
• Uloyiko lokukhanya (photophobia).
• Ukuphazamiseka kokubona.
• Ubunzima bokuginya (dysphagia).

Iimpawu ze-intermediate cystinosis (uhlobo lobutsha) ziyafana nezo ze-infant form. Nangona kunjalo, ziqala ukubonakala ebuntwaneni okanye ebusheni. Kwakhona, iimpawu zisenokungabi nzima kangako. Ezinye iimpawu ezinokubonakala kule fomu ziquka:

• Ukudinwa, ukudinwa.
• Ubuthathaka bemisipha.
• Isifo semisipha `(myopathy)` (myopathy).
• Ubude obufutshane.
• Ukufikisa okulibazisekileyo.
• Ukungazali.

I-Ocular cystinosis (i-non-nephropathy cystinosis) ichaphazela kuphela i-cornea yeliso. I-Photophobia idla ngokuba luphawu lodwa . Akukho zimpawu zinxulumene nezintso.

Zithini izizathu ze-cystinosis?

Oku kungenxa yotshintsho lwezakhi zofuzo kwi-gene ebizwa ngokuba yi-CTNS.. Le gene `(CTNS)` iyalela imizimba yethu ukuba yenze iproteni ebizwa ngokuba yi`(cystinosin)`. `(Cystinosin)` yiproteni yokuthutha ekhankanyiweyo ngaphambili. Oko kukuthi, umsebenzi wayo kukukhupha i-amino acid `(cystine)` kwi-lysosomes.

Ngoko ke, xa kukho utshintsho kwi-gene ye-`(CTNS)`, kukho isiphene kwiproteni ye-`(cystinosin)`. Emva koko, i-`(cystine)` ayinakuphuma kwi-lysosomes ize iqale ukuqokelelana. Kulapho ke ii-cyst zenzeka khona kwaye zonakalise iiseli kwizitho zomzimba.

Kudala kusithiwa oku kuzuzwe njengelifa "kwi-autosomal recessive pattern". Oku kuthetha ukuba bobabini abazali kufuneka babe ngabathwali bale gene iguquliweyo (abanazo iimpawu) . Kuphela ukuba abazali bobabini bazuze le gene iguquliweyo apho umntwana aza kuba nesi sifo.

Ifunyanwa njani i-Cystinosis?

Ugqirha wakho uza kukubuza ngeempawu zakho kunye nembali yempilo yosapho lwakho. Emva koko uza kwenza uvavanyo lomzimba aze acele iimvavanyo ezininzi ukuze kufunyaniswe imeko.

Zeziphi iimvavanyo ezenziwayo koku?

Ugqirha angenza ezi mvavanyo:

• Uvavanyo lwegazi: Kuthathwa isampulu yegazi lakho kwaye kuhlolwa inqanaba le-cystine kwiiseli ezimhlophe zegazi.
• Uvavanyo lwemfuza: Ingcali yemfuza iza kujonga utshintsho kwimfuza yakho ye-CTNS.
• Uhlalutyo lomchamo: Kuthathwa isampulu yomchamo ize ihlolwe ukuba akukho ziminerali, izondlo, iityuwa kunye nee-amino acids ezigqithisileyo.
• Ukuhlolwa kwamehlo: Ingcali yamehlo iza kusebenzisa imakroskopu ekhethekileyo (isibane esiqhekekileyo) ukujonga iikristale ze-cystine kwi-cornea yakho.

Ukuba ukhulelwe kwaye umntu kusapho lwakho une-cystinosis, kwaye wena kunye neqabane lakho nifunyaniswe ningabathwali, uvavanyo lokukhulelwa, olufana ne-amniocentesis, lunokwenziwa ukuze kufunyaniswe ukuba umntwana wakho unesifo na . Oku kuquka ukuthatha isampuli yeeseli ezivela kulwelo lwe-amniotic olujikeleze umntwana kunye nokujonga amanqanaba e-cystine.

Olunye uvavanyo olubizwa ngokuba yi-``chorionic villus sampling`` lungasetyenziswa. Olu vavanyo luvavanya iiseli ezikwi-placenta.

Ziziphi iindlela zonyango lwe-cystinosis?

Iyeza elibizwa ngokuba yiCysteamine

Unyango oluphambili lwe-cystinosis liyeza elibizwa ngokuba yi-cysteamine . Eli liyeza eliphelisa i-cystine. Oku kuthetha ukuba linciphisa amanqanaba e-cystine kwiiseli zakho.

Ukuba eli yeza `(cysteamine)` liqaliswe kwangethuba, umonakalo wezintso unokulawulwa kakhulu kwaye ulibaziseke.Eli yeza lincede ekulibaziseni isidingo sokufakelwa izintso. Abanye abantwana baye bakwazi ukulibazisa ukufakelwa izintso bade babe ngabantu abadala. Kwakhona, eli yeza liphucula ukukhula kwabantwana abanesifo.

Kukho iintlobo ezimbini ze-`(Cysteamine)`: `(Cystagon™)` kunye ne-`(Procysbi™)` (la ngamagama eebhrendi). `(Cystagon™)` kufuneka ithathwe rhoqo emva kweeyure ezintandathu. `(Procysbi™)` (kwabo baneminyaka engaphezu kwe-6 ubudala) ine-coating ekhethekileyo, ngoko ke inokuthathwa rhoqo emva kweeyure ezili-12.

Iyeza eliqhelekileyo elithi `(cysteamine)` alinyangi iikristale ze`(cystine)` kwi-cornea yeliso. Ngenxa yoku, kukho iintlobo ezimbini zamaconsi eliso elithi `(cysteamine)` avunyiweyo yi-US Food and Drug Administration `(FDA): `(Cystaran™)` kunye `(Cystadrops™)`. La maconsi kufuneka asetyenziswe malunga neyure ngelixa uvukile. Ayanyibilikisa iikristale kwi-cornea kwaye anciphise ukuvalelwa ekukhanyeni.

Ezinye iindlela zonyango

Abantwana abane-cystinosis banokufuna olunye unyango, kuxhomekeke kwiimpawu zabo. Unyango lwe-Fanconi syndrome luquka:

• Sela amanzi amaninzi kunye nee-electrolytes (ukuthintela ukulahleka kwamanzi amaninzi emzimbeni).
• Amayeza okugcina ityuwa emzimbeni ilungelelene.
• Iyeza lokulungisa isiphene ekufunxweni kwe-phosphate zizintso.

Ezinye iindlela zonyango lwe-cystinosis ziquka:

• Unyango lwe-hormone yokukhula.
• Ukuba unesifo seswekile esixhomekeke kwi-insulin, udinga i-insulin.
• I-Testosterone yamadoda ane-hypogonadism.
• Unyango lwentetho nolwimi.
• Ingcebiso ngemfuza.

Abanye abantwana abanengxaki yokutya banokufuna ukondliwa ngetyhubhu (ityhubhu ye-gastronomy). Le tyhubhu isetyenziselwa ukunika isondlo esifanelekileyo kunye nokunika amayeza.

I-ocular cystinosis, echaphazela amehlo kuphela, inokunyangeka ngezi ndlela zilandelayo:

• Ukuphepha ukukhanya okukhanyayo.
• Ndinxibe iiglasi zelanga.
• Ukugcina amehlo emanzi.
• Kunqabile kakhulu, ukufakelwa i-cornea kungafuneka.

Ukufakelwa kwezintso

Nokuba sele kufunyenwe kwaye kunyangwa kwangethuba, abantu abane-nephropathy kunye ne-intermediate cystinosis ekugqibeleni baba nokusilela kwezintso. Ekuqaleni, ugqirha wakho unokunyanga ukusilela kwezintso nge-dialysis. I-Dialysis ngumatshini othatha eminye yemisebenzi eyenziwa zizintso zakho. Ihluza imveliso engcolileyo egazini lakho kwaye inceda ukugcina amanqanaba afanelekileyo eekhemikhali ezithile emzimbeni wakho. Nangona kunjalo, ukusilela kwezintso akunakulungiseka, kwaye ekugqibeleni kufuneka ukufakelwa izintso .

Ukufakelwa kwezintso kuphumelela kakhulu kubantu abane-cystinosis. Izintso ezinikelweyo aziqokeleli i-cystine . Nangona kunjalo, i-cystine isenokuqokelelana kwezinye izitho zomzimba wakho. Ke ngoko, kuya kufuneka uthathe amayeza ubomi bakho bonke .

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

Iyeza elithi `(cysteamine)` linevumba elibi kancinci kwaye linencasa engathandekiyo . Ngenxa yoko, abanye abantu banokuba nesicaphucaphu, ukuhlanza, kunye nentliziyo ebuhlungu xa besebenzisa eli yeza. `(cysteamine)` inokubangela ukuba kuveliswe i-asidi egqithisileyo esiswini. Abanye abantu basebenzisa amayeza anjenge `(proton pump inhibitors)` ukunciphisa i-asidi yesisu. Oku kunokunciphisa iimpawu zabo zesisu. `(cysteamine)` inokubangela nomoya ombi `(halitosis)` kunye nomoya ombi.

Ngaba i-Cystinosis ingathintelwa?

I-Cystinosis yimeko yemfuza, ngoko ke ayinakuthintelwa . Ukuba ukhulelwe okanye uceba ukukhulelwa, ungacinga ngokuvavanya imfuza ukuze ufumane ukuba umntwana wakho usemngciphekweni wokufumana esi sifo.

Iyintoni imbono yomntu one-cystinosis? / Banokuphila ixesha elingakanani?

Ngaxa lithile, i-nephropathy cystinosis yayisifo esibulalayo kubantwana abancinci. Kodwa namhlanje, ngokuphuhliswa kwe-cysteamine yeziyobisi kunye nokuqhubela phambili kokufakelwa kwezintso, ubomi obude babantu abane-cystinosis buye bandiswa bade babe ngabantu abadala . Abanye abantu baphila bade babe ngaphezu kweminyaka engama-50 ubudala.

Kubalulekile ukuqaphela i-cystinosis kwangethuba. Ngonyango olufanelekileyo, esi sifo sinokulawulwa. Ukuba asinyangwa, abantwana abane-cystinosis baya kuba nokungasebenzi kakuhle kwezintso xa beneminyaka eli-10 ubudala. Nokuba banyangwa, abantwana abaninzi baya kuba nokungasebenzi kakuhle kwezintso xa besebancinci okanye befikisa. Oku kuya kufuna i-dialysis kwaye ekugqibeleni kufakelwe izintso.

Ukuba uthatha i-cysteamine, kufuneka uqhubeke uyisebenzisa ubomi bakho bonke . Uphando lubonise ukuba inokuthintela iingxaki ezininzi ze-cystinosis ezingahambelaniyo nezintso.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Cystinosis yimeko yemfuza enokubangela iimpawu ezahlukeneyo. Ukuba ifunyenwe kwangethuba kwaye inyangwa ngokukhawuleza, ukuqhubela phambili kwesi sifo kunokulawulwa kakhulu . Esi sifo sakha sababulala abantwana abancinci, ngoku sinokunyangwa ngamayeza. Nokuba ngamayeza, abantu abane-cystinosis ekugqibeleni baba nokungasebenzi kakuhle kwezintso kwaye bafune ukufakelwa izintso. Nangona kunjalo, abantu abanesifo ngoku baphila kakuhle bade babe ngabantu abadala.

Ukuba wena okanye umntu omaziyo unezi mpawu, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngokukhawuleza.Ungakhathazeki, kodwa kulungile ukuba wonke umntu azi izinto ezinje.

I- cystinosis, i-cystine, isifo sezintso, isifo semfuza, i-Fanconi syndrome, i-cysteamine, isifo sezintso, isifo semfuza, impilo yabantwana