Ese inda y'umwana wawe isa n'aho yabyimbye gato? Cyangwa wumva umwana wawe adakura ku gipimo gikwiye ukurikije imyaka ye? Hari igihe ibi bintu bishobora kuba ibisanzwe. Ariko gake cyane, bishobora guterwa n'indwara idakunze kugaragara mu ngirabuzimafatizo tutarabyumva. Uyu munsi, turimo kuvuga ku ndwara ya Niemann-Pick, iri muri imwe muri izo ndwara zidakunze kugaragara. Ntugatinye numva iri zina. Reka tubiganireho mu buryo bworoshye ushobora gusobanukirwa.
Indwara ya Niemann-Pick ni iki?
Mu magambo make, indwara ya Niemann-Pick ni indwara umuntu avukana iterwa no kwirundanya ibinure bitari ngombwa, cyangwa ibinure, mu turemangingo tw’umubiri wacu.
Noneho ushobora kwibaza uti "Izi lipide ni iki? Kuki zirundanya?" Reka tubisobanure muri ubu buryo.
Tekereza buri karemangingo mu mubiri wacu nk'uruganda ruto. Uru ruganda rukeneye ingufu kugira ngo rukore. Izo ngufu ziva mu byo turya. Ibinure (lipide) na poroteyine biri muri ibi biribwa bigabanywamo ibice bito mu turemangingo twacu kandi bigakoreshwa mu gukora ingufu. Byongeye kandi, izi lipide (urugero, cholesterol n'amavuta) nazo zirakenewe mu mirimo myinshi y'ingenzi, nko kubaka inkuta z'uturemangingo twacu no gukora imisemburo.
Ubusanzwe, mu mubiri w'umuntu muzima, iyo ibi binure byarangiye, cyangwa niba ari byinshi cyane, haba hari imisemburo yihariye yo kubimenagura no kubikura mu mubiri. Kimwe n'uburyo bukura imyanda mu ruganda iyo burangiye gukora.
Ariko ku muntu urwaye indwara ya Niemann-Pick, hari inenge mu miterere y’uturemangingo mu ikorwa rya enzymes cyangwa poroteyine zisenya ibinure navuze. Kubera iyo mpamvu, ibinure bidakoreshwa kandi bitari ngombwa bitangira kwirundanya mu turemangingo. Ni nk'umurundo w'imyanda mu ruganda rufite uburyo bwo guta imyanda bwangiritse.
Muri ubu buryo, ibinure ntibikunze kwirundanya ahantu hamwe gusa.
- Ubwonko
- Umwijima
- Umugongo
- Ibihaha
- Umworo w'amagufwa
Ibi byiyongera mu turemangingo tw’ingingo z’ingenzi nk’umutima. Uko igihe kigenda gihita, ibi binure byiyongera bikabuza izo ngingo gukora neza. Ni bwo ibimenyetso bitangira kugaragara.
Ni ibihe bimenyetso by'ingenzi by'iyi ndwara?
Ibimenyetso bishobora gutandukana bitewe n'urugingo rw'aho ibi binyabutabire byinjiriye. Ibimenyetso nabyo biratandukanye bitewe n'ubwoko bw'indwara. Ariko, hari ibimenyetso byinshi bikunze kugaragara.
Ibimenyetso by'imitsi
Ibi bimenyetso bigaragara iyo ibinure by’umubiri byinjijwe mu turemangingo tw’ubwonko.
- Ataxia: Iyi ni indwara aho imitsi y'umubiri idashobora kugenzura ingendo zikorwa ku bushake, nko kugenda cyangwa kugera ku kintu runaka. Umubiri wumva udakomeye kandi udakomeye.
- Intege nke z'imitsi:Umubiri wumva nta buzima ufite, kandi imitsi iragabanuka.
- Gucika intege: Hari igihe imitsi ikomera igatangira kunyeganyega. Kugenda bigorana cyane.
- Kugorwa no kuvuga: Gucura amagambo, kutabasha kuvuga neza.
- Kugabanuka buhoro buhoro k'imikorere y'ubwonko: Ibintu nk'ubwitonzi n'ubushobozi bwo kwiga bishobora kugabanuka uko igihe kigenda gihita.
Ibimenyetso bifitanye isano n'ibindi bice by'umubiri
- Kubyimba k'umwijima n'umwobo: Iki ni kimwe mu bimenyetso bya mbere bigaragara. Izi ngingo ebyiri zigenda ziyongera bitewe n'ibinure bivanze. Ibi bituma inda y'umwana isohoka imbere igasa n'aho ibyimbye.
- Kugorwa no kumira no kunywa: Iyi ndwara yibasira cyane cyane abana bato.
- Impinduka mu mikorere y'amaso: Kugorana kureba hejuru no hasi bishobora kubaho.
- Impinduka za cornea: Imboni ishobora kuba irimo ibicu.
- Ikimenyetso cy'umutuku nk'iry'izuba: Iki ni ikimenyetso cyihariye. Iyo muganga asuzumye ijisho, ashobora kubona ikimenyetso cy'umutuku gisa n'iry'izuba hagati muri retina. Ibi ntibibaho kuri bose, ariko hari abarwayi babibona.
Icy'ingenzi ni uko ibi bimenyetso bitagaragara mu buryo butunguranye. Bigenda bikura buhoro buhoro. Kubwibyo, niba ufite gushidikanya, ni ngombwa cyane kubonana na muganga wujuje ibisabwa vuba bishoboka no gusaba inama.
Hari ubwoko butatu bw'ingenzi bw'iyi ndwara.
Indwara ya Niemann-Pick si imwe. Hari ubwoko butatu bw'ingenzi (n'ubundi bwinshi muri bimwe mu byiciro). Buri bwoko bufite impamvu zitandukanye, ibimenyetso, n'uko indwara igenda. Reka dukoreshe imbonerahamwe kugira ngo idufashe gusobanukirwa itandukaniro.
| Ubwoko bw'indwara | Ibiranga by'ingenzi n'imiterere | Impamvu |
|---|---|---|
| Ubwoko A |
| Umusaruro udahagije wa enzyme sphingomyelinase. Iyi enzyme isenya lipide sphingomyelin. |
| Ubwoko B | Impamvu ni imwe n’iya A. Ni ukuvuga ko imikorere ya enzyme ya sphingomyelinase igabanuka. Ariko, muri iki gihe, ugereranije n’iya A, hari imikorere ya enzyme isigaye. | |
| Ubwoko C | Impamvu si enzyme. Ni ukubura imwe muri poroteyine ebyiri zitwa NPC1 cyangwa NPC2. Izi poroteyine zitwara cholesterol n'andi mavuta mu turemangingo. |
Akandi kantu gato ku bwoko bwa D
Mu bihe byashize, abarwayi barwaye ubwoko bwa C, bakomoka ku mukurambere umwe mu gace ka Nova Scotia muri Kanada, bitwaga ubwoko bwa D. Ariko ubu tuzi ko ari indwara ikomoka ku bwoko bwa C, kandi iterwa n'inenge runaka mu ngirabuzimafatizo ya NPC1.
Ese hari uburyo bwo kuvura ibi?
Kumenya igisubizo cy'iki kibazo ni ingenzi cyane kuri wowe no kuri buri wese. Mu by'ukuri, kugeza ubu nta muti uhari w'indwara ya Niemann-Pick.
None se abaganga bakora iki?
Uburyo bwo kuvura ubu ni uburyo bwo gufasha . Ni ukuvuga ko nubwo indwara idashobora gukira, igenzura ibimenyetso, igaha umurwayi ihumure rishoboka, kandi igafasha mu koroshya ubuzima.
- Kwirinda indwara zandura: Aba barwayi, cyane cyane abana, bakunze kwandura indwara nyinshi. Kubwibyo, ni ngombwa cyane kubarinda indwara zandura nk'umusonga.
- Imirire: Abana bafite ikibazo cyo kumira bashobora gukenera kugaburirwa binyuze mu muyoboro wo kugaburira.
- Ubuvuzi bw'umubiri: Imyitozo ngororamubiri n'ubuvuzi bw'umubiri bishobora gufasha mu kugenzura imitsi idakomera (spasticity) no gukomeza gukora neza kw'ingingo.
- Uburyo bwo kuvura ibibazo byo guhumeka: Iyo ibihaha byagize ingaruka, kimwe no ku barwayi bo mu bwoko bwa B, hashobora gukenerwa ogisijeni y'inyongera.
Uburyo bwo kuvura bwakorewe igerageza
- Gutera umwongo w'amagufwa: Ibi byageragejwe ku barwayi bake bafite ubwoko bwa B, ariko ntabwo ari uburyo busanzwe bwo kuvura.
- Uburyo bwo gusimbuza enzymes no kuvura gene: Abahanga mu bya siyansi bizeye ko ubu buryo buzagira akamaro ku barwayi bo mu bwoko bwa B mu gihe kizaza, ariko buracyari mu cyiciro cy’ubushakashatsi.
Abantu benshi batekereza ko kugenzura indyo yabo no kugabanya kurya ibinure, bishobora guhagarika ukwiyongera kw'ibinure. Ariko ukuri ni uko guhindura indyo yabo bitashobora guhagarika ukwiyongera kw'ibinure mu turemangingo. Kuko ikibazo kitari mu binure bikoreshwa hanze, ahubwo kiri mu nzira ibera mu turemangingo bitewe n'ubumuga bw'uturemangingo mu mubiri.
Ni iki wavuga ku byerekeye ahazaza? (Ibisobanuro ku gihe kizaza)
Iyi ni ingingo ikomeye cyane yo kuganiraho. Ahazaza h'umurwayi, cyangwa imiterere ye, biterwa gusa n'ubwoko bw'indwara.
- Ubwoko bwa A: Nkuko byavuzwe mbere, ubu ni bwo bwoko bukabije cyane. Abana bafite iyi ndwara bakunze gupfa bakiri bato, mbere y'imyaka 2-3, bitewe n'ubwandu cyangwa imikorere mibi y'imitsi.
- Ubwoko bwa B: Aba barwayi bashobora kubaho igihe kirekire. Bamwe babaho kugeza bakuze. Ariko, bitewe n'ibyago by'ibihaha, bashobora gukenera ubugenzuzi bw'ubuzima bwabo bwose ndetse rimwe na rimwe bagakenera ubufasha bwa ogisijeni.
- Ubwoko C:Biragoye cyane kumenya ahazaza h'iyi ndwara, kuko imyaka ibimenyetso bigaragaramo n'uko indwara igenda ihinduka bitandukanye cyane bitewe n'umuntu ku giti cye. Abana bamwe bapfa bakiri bato, mu gihe abafite ibimenyetso bitaratangira neza kandi badakomeye cyane bashobora kubaho kugeza bakuze.
Ubutumwa bwo kujyana mu rugo
- Indwara ya Niemann-Pick ni indwara idakunze kugaragara, iterwa n'uturemangingo tw'umubiri, itera kwirundanya kw'ibinure (lipide) mu turemangingo tw'umubiri.
- Hari ubwoko butatu bw'ingenzi bw'ibi (A, B, na C). Ubwoko bwa A ni bwo bukabije cyane. Ubwoko bwa B bwibasira cyane ibihaha n'umwijima, mu gihe ubwoko bwa C bugira ingaruka zikomeye ku mitsi.
- Ibimenyetso nko kubyimba inda (umwijima/impiri yagutse), kugorwa no kugenda, no kudakura neza bishobora kugaragara mu ntangiriro.
- Nta muti uraboneka kugeza ubu. Icyo hakorwa ni ukugenzura ibimenyetso no gutanga ihumure ku murwayi.
- Niba ufite amakenga ko umwana wawe afite kimwe muri ibi bimenyetso, ntugatinye kandi uhure na muganga w’abana cyangwa undi muganga vuba bishoboka.
- Ubushakashatsi ku ndwara zidasanzwe nk'izi burimo gukorwa hirya no hino ku isi. Twese twizere ko hazaboneka uburyo bwiza bwo kuvura indwara mu gihe kizaza.
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