Ese ufite cystine yibumbiye mu turemangingo tw'umubiri wawe? Ibi byitwa cystinosis!

Tekereza, byagenda bite aside amine yitwa `(cystine)` (cysteine) itangiye kwirundanya mu turemangingo duto mu mubiri wacu? Iyo ni indwara yitwa `(Cystinosis). Iyi ni indwara idakunze kugaragara mu buryo bw'uturemangingo idakunze kugaragara, ariko igomba gufatwa nk'ingenzi cyane. Iyo `(cystine)` yirundanyije cyane mu turemangingo, utwo turemangingo dushobora kwangirika. Mu by'ukuri, iyi `(cystine)` ituma uturemangingo duto twiremamo uturemangingo, kandi iyo twirundanyije, bitera ibibazo ku ngingo zitandukanye n'imitsi mu mubiri wacu. Reka tuvuge kuri iyi `(Cystinosis)` mu buryo burambuye kandi muri iki gihe, sibyo?

Cystinosis ni iki? Reka dusobanukirwe neza!

Mu magambo make, cystinosis ni indwara iterwa n’uturemangingo . Ikibaho muri ibi ni uko aside amine `(cystine)` (cysteine) yirundanya mu turemangingo twacu. Urabizi, aside amine ni ingenzi cyane ku mubiri wacu. Ariko, iyo iyi `(cystine)` iri mu turemangingo, iba yangiza uturemangingo. Kubera iyi `(cystine)` nyinshi , uturemangingo duto nk'utwo twiremangingo twiremangingo. Utwo turemangingo twiyongera buhoro buhoro tugatangira kwangiza ingingo zitandukanye n'imitsi mu mubiri wacu.

Cystinosis ikunze kwibasira impyiko n'amaso . Ariko, ishobora no kwangiza ubwonko, imitsi, umwijima, tiroyide, pancreas, ndetse no ku bagabo, mu mabya.

Ibi ni gake cyane, bivuze ko bibaho ku muntu umwe mu bantu igihumbi. Ariko, ni indwara ikomeye cyane kandi ifata ubuzima bwose . Ariko, iyo imenyekanye hakiri kare kandi ikavurwa neza, ikwirakwira ry’iyi ndwara rishobora kugenzurwa ahanini. Ariko, abantu benshi amaherezo barwara indwara y’impyiko mu cyiciro cya nyuma, bityo bagakenera guterwa impyiko.

Ese hari ubwoko butandukanye bwa cystinosis?

Yego, hari ubwoko butatu bw'ingenzi bwa cystinosis. Ubwo bwoko bushyirwa mu byiciro hakurikijwe imyaka ibimenyetso byatangiye kugaragaraho (ni ukuvuga igihe indwara yatangiriye) n'uburemere bw'ibimenyetso.

1. Cystinosis ya Nephropathic (ubwoko bw'abana bato)

Ubu ni bwo bwoko bukunze kugaragara cyane . Abantu bagera kuri 95% barwaye cystinosis bafite ubwo bwoko. Ni nabwo bukabije cyane . Bunatwa cystinosis y'infantile.

Abana bafite iyi ndwara ya `(Nephropathic cystinosis)` bagira ikibazo cyihariye cyangiza impyiko . Yitwa `(renal Fanconi syndrome)`. Muri iyi ndwara, imyunyungugu n'izindi ntungamubiri umubiri wacu ukeneye ntibinjira neza mu maraso, ahubwo bisohoka mu nkari. Tekereza, iyo umubiri w'umwana muto utakaje ibintu ukeneye muri ubu buryo,Imikurire y'umwana iragabanuka, amagufwa aracika intege, ashobora kunama (ibi byitwa kandi "rickets"), ndetse n'ibindi bibazo byinshi bishobora kubaho.

Ubusanzwe, iyo umuntu afite imyaka ibiri , utubumbe twa cystine dutangira kwirema mu maso y'umwana. Utu tubumbe turaterana, kandi uko igihe kigenda gihita, amaso atangira kumva urumuri (photophobia). Ibi bishobora gutera ububabare bukomeye mu maso no kubabara . Ni nk'aho amaso ahinduka ubururu iyo ashyizwe ku zuba.

Abana bafite iyi ndwara ya `(Nephropathic cystinosis)` bakeneye gusimbuzwa impyiko. Iyo itavuwe, impyiko zishobora kuba zidakora neza ku myaka 10. Ariko, iyo zivuwe neza, aba bana bashobora kubaho kugeza bakuze bafite ubuzima bwiza.

2. Cystinosis iri hagati (ubwoko bw'itangira ry'ubuto)

Ibi kandi byitwa cystinosis y'ingimbi cyangwa iy'abangavu. Ibimenyetso bisa n'ibya cystinosis y'abana bato, ariko ibimenyetso bigaragara mu bwana cyangwa mu gihe cy'ingimbi . Ibimenyetso bishobora kuba byoroheje cyangwa bikarushaho gukomera uko igihe kigenda gihita.

Abantu bafite ubu bwoko bwa cystinosis bazakenera guterwa impyiko. Iyo zitavuwe, impyiko zishobora gukora nabi burundu mu myaka 15-25 .

3. Cystinosis idafata nephropathy (ubwoko bw'indwara ifata amaso gusa)

Ibi kandi byitwa benign cystinosis, cyangwa ocular cystinosis. Ubu bwoko bw’indwara bufata amaso gusa . Uduce duto twa cystine twibasira cornea y’ijisho, bigatera ubwiyongere bw’ijisho. Ariko, abantu benshi bafite ubu bwoko bw’indwara ntibagira ikibazo cy’impyiko cyangwa ibindi bimenyetso .

Imyaka iyi ndwara imenyereweho (Non-nephropathy cystinosis) ishobora gutandukana, kuko ibimenyetso bidakunze kugaragara. Ariko, akenshi ifata abantu bakuru bari mu kigero cyo hagati.

Ni nde urwara cystinosis?

Cystinosis ni indwara iterwa n’uturemangingo ishobora kugira ingaruka ku muntu uwo ari we wese . Iyi ndwara iragwa mu buryo bw’umubiri. Ibi bivuze ko ababyeyi bombi bagomba kuba bafite gene yahinduwe kubera iyo ndwara . Niba ababyeyi bombi ari bo batwara gene yahinduwe (bivuze ko nta bimenyetso bafite, ariko bafite gene), bafite amahirwe angana na 25% (umwe muri bane) yo kubyara umwana ufite gene yahinduwe.

Iyi ndwara ikunze kugaragara mu rugero rungana iki?

Cystinosis ni indwara idakunze kugaragara . Ku isi yose, yibasira umuntu umwe gusa mu bana 100.000 kugeza 200.000 bavutse.

Ni gute cystinosis igira ingaruka ku mubiri wacu?

Cystinosis ni indwara iri mu itsinda ry'indwara zitwa `(lysosomal storage disorder)`. Tekereza, mu turemangingo twacu harimo utunyangingo duto twitwa `(lysosomes)` . Ibi bimeze nk'imyanda y'uturemangingo. Bisenya intungamubiri nka karubohidrati, poroteyine, n'ibinure. Poroteyine zimwe na zimwe zikora nka `(enzymes)` kandi zigafasha umubiri kwinjiza izo ntungamubiri. Izindi poroteyine zikora nka `(abatwara)`. Ni ukuvuga ko izi nyoni zitwara zifata `(cystine)` zisigaye muri ibyo bintu byasenyutse biva muri lysosomes.

Noneho, niba utakaje imwe muri izo poroteyine zo gutwara, `(cystine)` ntishobora kuva muri lysosomes ngo itange kwirundanya mu turemangingo. Icyo gihe `(cystine)` ikora amatsinda, yangiza ingingo.

Ni ibihe bimenyetso bya cystinosis?

Ibimenyetso n'ubukana bwabyo biratandukanye bitewe n'imyaka indwara itangiriyeho n'igihe imenyerewe.

Ibimenyetso bya cystinosis y'impyiko (iy'abana bato) akenshi bitangira kugaragara hagati y'amezi 6 na 18 , iyo impyiko zangiritse. Ibi ni byo bimenyetso by'ingenzi:

• Inyota ikabije (polydipsia).
• Kunyara cyane (polyuria).
• Kudahuza kwa electrolyte mu mubiri.
• Kuruka.
• Kubura amazi mu mubiri.
• Umuriro.

Ibindi bimenyetso bishobora kuba birimo:

• Gucika intege kw'amagufwa, kurwara amagufwa.
• Kunanirwa gutera imbere.
• Inkovu cyangwa ibihu ku mboni y'amaso.
• Kumva urumuri (photophobia).
• Kutabona neza.
• Kugorwa no kumira (dysphagia).

Ibimenyetso bya cystinosis yo hagati (ubuto) bisa n'iby'ubuto. Ariko, bitangira kugaragara mu bwana cyangwa mu gihe cy'ingimbi. Nanone, ibimenyetso bishobora kuba bidakomeye cyane. Ibindi bimenyetso bishobora kugaragara muri ubu bwoko birimo:

• Umunaniro, umunaniro.
• Intege nke z'imitsi.
• Indwara y'imitsi `(myopathy)` (myopathy).
• Mugufi.
• Gutinda mu bugimbi.
• Ubugumba.

Cystinosis yo mu maso (cystinosis idashingiye ku mitsi) yibasira gusa cornea y'ijisho. Ubusanzwe phobia ni yo kimenyetso cyonyine . Nta bimenyetso bifitanye isano n'impyiko bihari.

Ni izihe mpamvu zitera cystinosis?

Ibi biterwa n'impinduka mu miterere y'uturemangingo muri gene yitwa CTNS.. Iyi gene ya `(CTNS)` itegeka umubiri wacu gukora poroteyine yitwa `(cystinosin)`. `(Cystinosin)` ni poroteyine itwara ibintu yavuzwe mbere. Ni ukuvuga ko inshingano yayo ari ukuvana aside amine `(cystine)` muri lysosomes.

Rero, iyo habayeho impinduka mu ngirabuzimafatizo ya `(CTNS)`, haba hari inenge muri poroteyine ya `(cystinosine)`. Hanyuma, `(cystine)` ntishobora kuva muri lysosomes igatangira kwirundanya. Icyo gihe cysts zirema zikangiza uturemangingo mu ngingo.

Byavuzwe kuva kera ko ibi bivuka mu buryo bwa "autosomal recessive pattern". Ibi bivuze ko ababyeyi bombi bagomba kuba ari bo batwara iyi gene yahinduwe (nta bimenyetso bafite) . Ni uko ababyeyi bombi bazungura iyi gene yahinduwe ni bwo umwana azarwara iyi ndwara.

Ni gute indwara ya Cystinosis ipimwa?

Muganga wawe azakubaza ibimenyetso byawe n'amateka y'ubuzima bw'umuryango wawe. Hanyuma azagukorera isuzuma ry'umubiri kandi agutegeke ibizamini byinshi kugira ngo amenye iyo ndwara.

Ni ibihe bizamini biri gukorwa kuri ibi?

Muganga ashobora gukora ibi bizamini:

• Gupima amaraso: Hafatwa icyitegererezo cy'amaraso yawe hanyuma hagasuzumwa urugero rwa cystine mu turemangingo tw'amaraso twera.
• Gupima imiterere y'uturemangingo: Inzobere mu by'imiterere y'uturemangingo izasuzuma niba hari impinduka mu ngirabuzimafatizo yawe (CTNS).
• Isesengura ry'inkari: Hafatwa icyitegererezo cy'inkari, hakagenzurwa imyunyu ngugu, intungamubiri, umunyu na aside amine zirenze urugero.
• Gusuzuma amaso: Umuganga w'amaso azakoresha mikorosikopi yihariye (itara rito) kugira ngo arebe aho kristu za cystine ziri mu mboni yawe.

Niba utwite kandi hari umuntu wo mu muryango wawe ufite ikibazo cya cystinosis, kandi mwembi mugasanga wowe n'umukunzi wawe mufite ikibazo, gupima umwana mbere yo kubyara, nka amniocentesis, bishobora gukorwa kugira ngo hamenyekane niba umwana wawe afite iyi ndwara . Ibi bisaba gufata icyitegererezo cy'uturemangingo two mu mazi ya amniotic akikije umwana no gusuzuma urugero rwa cystine.

Ikindi kizamini cyitwa "chorionic villus sampling" nacyo gishobora gukoreshwa. Iki kizamini gipima uturemangingo turi mu nyababyeyi.

Ni ubuhe buryo bwo kuvura cystinosis?

Umuti witwa Cysteamine

Uburyo bw'ingenzi bwo kuvura cystinosis ni umuti witwa cysteamine . Uyu ni umuti ugabanya ubukana bwa cystine. Ibi bivuze ko ugabanya urugero rwa cystine mu turemangingo twawe.

Iyo uyu muti `(cysteamine)` utangiye hakiri kare, kwangirika kw'impyiko bishobora kugenzurwa no gutinda.Uyu muti wafashije gutinza gukenera guterwa impyiko. Hari abana bashoboye gutinza guterwa impyiko kugeza bageze mu zabukuru. Nanone, uyu muti utuma abana barwaye iyi ndwara bakura neza.

Hari ubwoko bubiri bwa `(Cysteamine)`: `(Cystagon™)` na `(Procysbi™)` (aya ni amazina y'ibirango). `(Cystagon™)` igomba gufatwa buri masaha atandatu. `(Procysbi™)` (ku bafite imyaka irenga 6) ifite agahu kadasanzwe, bityo ishobora gufatwa buri masaha 12.

Umuti usanzwe wa `(cysteamine)` ntuvura `(cystine)` kristu mu mboni y'ijisho. Kuri ibi, hari ubwoko bubiri bw'ibitonyanga by'amaso bya `(cysteamine)` byemewe n'Ikigo gishinzwe ibiribwa n'imiti cya Amerika` (FDA): `(Cystaran™)` na `(Cystadrops™)`. Ibi bitonyanga bigomba gusigwa rimwe mu isaha ukiri maso. Bishongesha kristu mu mboni kandi bigagabanya ubushobozi bwo kumva urumuri.

Ubundi buryo bwo kuvura

Abana barwaye cystinosis bashobora gukenera ubundi buvuzi, bitewe n'ibimenyetso bafite. Uburyo bwo kuvura Fanconi syndrome burimo:

• Nywa amazi menshi n'ibinyabutabire (electrolytes) (kugira ngo wirinde gutakaza amazi menshi mu mubiri).
• Umuti wo kubungabunga umunyu mu mubiri.
• Umuti wo gukosora inenge mu kwinjiza fosifeti n'impyiko.

Ubundi buryo bwo kuvura cystinosis burimo:

• Uburyo bwo kuvura imisemburo ikura.
• Niba ufite diyabete iterwa na insuline, ukeneye insuline.
• Testosterone ku bagabo bafite hypogonadism.
• Ubuvuzi bw'imivugire n'indimi.
• Ubujyanama ku bijyanye n'imiterere y'umubiri.

Abana bamwe bafite ikibazo cyo kurya bashobora gukenera kugaburirwa binyuze mu muyoboro (gastronomy tube). Uyu muyoboro ukoreshwa mu gutanga intungamubiri zikwiye no gutanga imiti.

Indwara ya cystinosis y'amaso, yibasira amaso gusa, ishobora no kuvurwa muri ubu buryo bukurikira:

• Kwirinda urumuri rwinshi.
• Kwambara indorerwamo z'izuba.
• Gukomeza amaso ahumutse.
• Ni gake cyane, gutera cornea bishobora kuba ngombwa.

Gutera impyiko

Nubwo abantu bavurwa hakiri kare kandi bakavurwa, abafite uburwayi bwa cystinosis n’ubwo mu buryo bw’impyiko bahura n’ikibazo cy’impyiko. Mu ntangiriro, muganga wawe ashobora kuvura ikibazo cy’impyiko akoresheje dialysis. Dialysis ni imashini ifata bimwe mu bikorwa by’impyiko zawe. Iyungurura imyanda iva mu maraso yawe kandi igafasha mu kubungabunga urugero rwiza rw’imiti imwe n’imwe mu mubiri wawe. Ariko, ikibazo cy’impyiko ntigishobora gusubizwa inyuma, kandi amaherezo hakenewe gutera impyiko .

Gutera impyiko mu buryo bwa "cystinosis" biragira ingaruka nziza ku bantu bafite ikibazo cy'impyiko. Impyiko itanzwe ntiziteranya impyiko . Ariko, impyiko ishobora gukomeza kwirunda mu zindi ngingo z'umubiri wawe. Kubwibyo, uzakenera gufata imiti ubuzima bwawe bwose .

Ese hari ingaruka mbi zikomoka ku buvuzi?

Umuti `(cysteamine)` ufite impumuro mbi gato n'uburyohe butari bwiza . Kubwibyo, bamwe mu bantu bashobora kugira isesemi, kuruka, no kuribwa mu gifu iyo bafata uyu muti. `(cysteamine)` ishobora kandi gutuma habaho aside nyinshi mu gifu. Hari abantu bafata imiti nka `(proton pump inhibitors)` kugira ngo bagabanye aside mu gifu. Ibi bishobora kugabanya ibimenyetso by'indwara z'igifu. `(cysteamine)` ishobora kandi gutera impumuro mbi mu gifu `(halitosis)` n'impumuro mbi mu gifu.

Ese indwara ya Cystinosis ishobora kwirindwa?

Cystinosis ni indwara iterwa n'uturemangingo, bityo ntishobora kwirindwa . Niba utwite cyangwa uteganya gutwita, ushobora gutekereza ku isuzuma ry'uturemangingo kugira ngo umenye niba umwana wawe afite ibyago byo kurwara iyi ndwara.

Ni iki cyizere cy’umuntu urwaye cystinosis? / Ashobora kubaho igihe kingana iki?

Hari igihe indwara ya nephropathy cystinosis yari indwara yica abana bato. Ariko muri iki gihe, bitewe n'iterambere ry'umuti wa cysteamine no gutera impyiko, igihe cyo kubaho cy'abantu barwaye cystinosis cyongerewe kugeza ku bantu bakuru . Hari abantu bamara imyaka irenga 50.

Gutahura cystinosis hakiri kare ni ingenzi. Iyo havuwe neza, iyi ndwara ishobora kugenzurwa. Iyo itavuwe, abana barwaye cystinosis bazagira ikibazo cy’impyiko bafite imyaka 10. Nubwo bavurwa, abana benshi bazagira ikibazo cy’impyiko mu bwana cyangwa mu gihe cy’ubwangavu. Ibi bizasaba dialyse ndetse amaherezo bagaterwa impyiko.

Iyo ufashe cysteamine, ugomba gukomeza kuyifata ubuzima bwawe bwose . Ubushakashatsi bwagaragaje ko ishobora gukumira ibibazo byinshi bya nyuma bya cystinosis bitajyanye n'impyiko.

Amaherezo, ibintu byo kwibuka

Cystinosis ni indwara iterwa n’uturemangingo ishobora gutera ibimenyetso bitandukanye. Iyo igaragaye hakiri kare kandi igavurwa vuba, ikwirakwira ry’iyi ndwara rishobora kugenzurwa ahanini . Iyi ndwara yahoze yica abana bato, ubu ishobora kuvurwa n’imiti. Ndetse no mu miti, abantu barwaye cystinosis amaherezo bagira ikibazo cy’impyiko, bityo bagakenera guterwa impyiko. Ariko, abantu barwaye iyi ndwara ubu babaho neza kugeza bakuze.

Niba wowe cyangwa undi muntu uzi afite ibi bimenyetso, ni ngombwa cyane gushaka inama kwa muganga byihutirwa.Ntugahangayike, ariko ni byiza ko buri wese amenya ibintu nk'ibi.

` cystinosis, cystine, indwara y'impyiko, indwara y'uturemangingo, Fanconi syndrome, cysteamine, indwara y'impyiko, indwara y'uturemangingo, ubuzima bw'umwana