Ese uzi indwara ya Niemann-Pick? Reka tuvuge kuri iyi ndwara idasanzwe!

Wigeze wumva ikintu cyitwa Niemann-Pick Disease? Wenda iri zina ni rishya kuri wewe. Mu by'ukuri ni indwara idakunze kugaragara, iterwa n'uturemangingo igaragara mu miryango. Itera ibintu bimwe na bimwe by'ingenzi mu mibiri yacu, cyane cyane ibinure, kwiyongera mu buryo butunguranye. Reka tuvuge kuri iyi ndwara uyu munsi, si byo se?

Indwara ya Niemann-Pick ni iki?

Mu magambo make, indwara ya Niemann-Pick ni indwara aho ibinure, nk'amavuta, aside irike, na cholesterol, byirundanya mu turemangingo twacu aho gushwanyagurika neza bigahinduka ingufu. Ibi ni indwara z'imikorere y'umubiri zivukanwa , bivuze ko zishobora guhererekanywa n'ababyeyi ku bana. Muri ubu buryo, ibinure bibi byirundanya ahantu nko mu bwonko, mu nda, mu mwijima, mu bihaha no mu musokoro w'amagufwa.

Ni ibihe bimenyetso bisanzwe by'iyi ndwara?

Iyo ibinure byirundanyije muri ubu buryo, ibimenyetso bitandukanye bishobora kubaho. Hari abantu bahura n'ibibazo bijyanye n'imitsi.

• Ataxia: Ibi ni ukudashobora kugenzura imitsi mu gihe ukora ingendo nkana, urugero, iyo ugenda.
• Kugabanuka kw'imbaraga z'imitsi.
• Kugabanuka buhoro buhoro k'imikorere y'ubwonko.
• Ubushobozi bwo kumva umuntu akozeho cyane.
• Guhagarara: Ibi bivuze ko imitsi ikomera kandi ikagenda mu buryo budasanzwe.
• Gutsitara mu gihe uvuga.

Byongeye kandi, hashobora kubaho ingorane zo kurya no kumira, ubumuga bw'amaso, ubumuga bwo kwiga, no kwaguka k'umwijima n'umwobo. Hari igihe hashobora kubaho igicu cy'ijisho ry'amaso n'umutuku utukura hagati muri retina.

Ese hari ubwoko bw'ingenzi bw'indwara ya Niemann-Pick?

Yego, hari ubwoko butatu bw'ingenzi bw'iyi ndwara: ubwoko bwa A, B, na C.

Ubwoko A:

Iyi ni yo ndwara ikomeye cyane. Ikunze kwibasira abana bato, akenshi mbere y'uko bakura amezi make . Ikunze kugaragara cyane mu miryango y'Abayahudi.

• Ibimenyetso ni ugutakaza ubwenge buhoro buhoro.
• Umwijima n'uruhago birakura.
• Utunyangingo tw'imitsi turabyimbye.
• Ku mezi atandatu, ubwonko bushobora kwangirika cyane .

Ikibabaje ni uko ubusanzwe, aba bana bo mu bwoko bwa A badakunze kubaho barengeje amezi 18.

Ubwoko B:

Ibi bikunze kugaragara mu bwana, hafi imyaka icumi cyangwa cumi n'ibiri .

• Aba bantu bashobora kandi kugira ibimenyetso nka ataxia na neuropathy yo mu miyoboro y'amaraso.
• Ariko akenshi, ntacyo bigira ku bwonko.
• Aba bantu bashobora kandi kugira ibibazo by’umwijima n’uduheri ndetse n’ibihaha.

Impamvu y’ubwoko bwa A na B bwombi:

Impamvu nyamukuru y’iterambere ry’ubu bwoko bubiri ni uko enzyme sphingomyelinase , ifasha mu gusenya lipide yitwa sphingomyelin, iboneka muri buri turemangingo tw’umubiri wacu, idakora bihagije. Kubera iyo mpamvu, lipide yitwa sphingomyelin yirundanya mu turemangingo mu buryo bw’uburozi.

Ubwoko C:

Ubu bwoko bushobora gutangira mu bwana, cyangwa bushobora kugaragara mu bwana cyangwa mu myaka y'ubukure .

• Ibi biterwa no kubura poroteyine ebyiri zitwa NPC1 cyangwa NPC2 .
• Aba bantu bashobora kwangirika cyane mu bwonko, ibyo bikaba byatera ingorane zo kureba hejuru no hasi, kugorwa no kugenda no kumira, ndetse no gutakaza ubushobozi bwo kureba no kumva buhoro buhoro.
• Umwijima n'agahu bishobora no kuba byagutse ku rugero ruciriritse.
• Mbere, abantu bo muri ubu bwoko bwa C, bari bafite inkomoko imwe mu gace kitwaga Nova Scotia, nabo bitwaga ubwoko bwa D. Ariko ubu buri munsi y’ubwoko bwa C.

Ese hari uburyo bwo kuvura ibi?

Mu by’ukuri, nta muti uhari w’indwara ya Niemann-Pick. Muri iki gihe, hariho uburyo bwo kuvura bufasha gusa bugenzura ibimenyetso kandi bugatanga ubutabazi. Akenshi, abo bana bashobora gutakaza ubuzima bwabo bitewe n’indwara zandura cyangwa gucika intege buhoro buhoro kw’imitsi.

• Kugeza ubu nta buryo bwiza bwo kuvura abafite ubwoko bwa A.
• Bamwe mu bantu bafite ubwoko bwa B bagiye baterwa umwongo w'amagufwa . Abashakashatsi kandi bizera ko ibintu nk'ubuvuzi bwo gusimbuza imisemburo n'imiti ikomoka ku ngirabuzimafatizo bishobora kugirira akamaro abantu bafite ubwoko bwa B mu gihe kizaza.
• Kugenzura ibyo urya n'ibyo unywa ntibishobora kubuza ubwo bwoko bw'ibinure kwirundanya mu turemangingo no mu ngingo.

Ejo hazaza h'iyi ndwara ni he?

Ahazaza h'iyi ndwara, ni ukuvuga igihe umurwayi ashobora kubaho n'uko ubuzima bwe buzaba bumeze, biratandukanye bitewe n'ubwoko bw'indwara.

• Abana bafite ubwoko bwa A , nk'uko byavuzwe haruguru, bapfa bakiri bato .
• Abana barwaye ubwoko bwa B bashobora kubaho igihe kirekire kurusha abandi, ariko bashobora gukenera guhabwa umwuka wa ogisijeni w'inyongera kubera ingaruka bigira ku bihaha.
• Ubuzima bw'abantu barwaye ubwoko bwa C buratandukanye. Hari abantu bashobora gupfa bakiri abana, ariko hari n'abantu badafite ibimenyetso bikomeye bashobora kubaho kugeza bakuze .

Ni ubuhe bushakashatsi bushya burimo gukorwa kuri ibi?

Ubushakashatsi ku ndwara ya Niemann-Pick buri gukorwa mu bice bitandukanye by'isi, cyane cyane mu kigo cy'igihugu gishinzwe indwara z'imitsi n'imitsi yo mu bwonko (NINDS) muri Leta Zunze Ubumwe za Amerika, ndetse noIbigo nka Ikigo cy’Igihugu cy’Ubuzima (NIH) ni byo biri ku isonga muri ibi.

• Bagiye bashaka utunyangingo dufasha mu iterambere ry’iyi ndwara. Urugero, basanze utunyangingo tubiri dufite inenge (NPC1 na NPC2) dutera Niemann-Pick type C.
• Abahanga mu bya siyansi barimo kandi gukora ubushakashatsi ku buryo uku kwirundanya kw'ibinure byangiza umubiri.
• Ubushakashatsi burimo gukorwa kugira ngo hamenyekane ibimenyetso bigaragaza ko hari indwara, bishobora gufasha mu kumenya indwara zo kubika ibinure mu maraso hakiri kare. Hifujwe ko ibi bizafasha mu kunoza uburyo bwo gusuzuma.

Amaherezo, ugomba kuvuga...

Sawa, rero ndizera ko wabonye igitekerezo runaka mu byo twavuze ku ndwara ya Niemann-Pick.

Ibuka ibi: Indwara ya Niemann-Pick ni indwara idakunze kugaragara, ivukanwa mu buryo bw'uturemangingo itera kwirundanya ku buryo budasanzwe kw'ibinure mu mubiri.

• Hari ubwoko butatu bw'ingenzi bw'iyi ndwara, A, B, na C , buri bwoko bufite ibimenyetso bitandukanye n'ubukana bwabyo.
• Ubwoko bwa A ni bwo bukabije kandi bufata abana bato. Ubwoko bwa B bushobora kugaragara mu bwana, naho ubwoko bwa C bushobora kugaragara mu myaka iyo ari yo yose.
• Nta muti wuzuye uhari , ahubwo ni uburyo bwo kuvura bufasha bugenzura ibimenyetso.
• Ariko ubushakashatsi bukomeje kubona uburyo bushya bwo kuvura.
• Niba hari umuntu wo mu muryango wawe ufite ibi bimenyetso, cyangwa niba ushaka kumenya byinshi kuri iyi ndwara, ni byiza kureba inzobere kugira ngo ikugire inama . Ushobora kandi kureba amatsinda n'imiryango ifasha abantu bafite izi ndwara zidasanzwe hamwe n'imiryango yabo.

Twizeye ko aya makuru azaba ingirakamaro kuri wewe. Komeza ugire ubuzima bwiza!

Indwara ya Niemann -Pick, indwara z'uturemangingo, ibinure byinshi, indwara z'abana, uturemangingo tw'imitsi, indwara zidasanzwe