Niemann Pick

Indwara ya Niemann-Pick ni igikundi cy'indwara zidakunze kugaragara zikomoka mu miryango. Izi ndwara zigira ingaruka ku bushobozi bw'umubiri bwo gusenya no gukoresha amavuta, nka kolesterol na lipide, biri mu mitobe. Kubera ubwinshi bw'amavuta, utwo dutose ntidukora nk'uko bikwiye kandi, uko igihe gihita, utwo dutose dupfa. Indwara ya Niemann-Pick ishobora kugira ingaruka ku bwonko, imitsi, umwijima, umwijima, umusokoro n'amasogwe y'amagufa. Rimwe na rimwe ishobora kugira ingaruka ku mpyiko. Ibimenyetso by'indwara ya Niemann-Pick bijyanye no kugenda nabi kw'imitsi, ubwonko n'ibindi bice by'umubiri uko igihe gihita. Indwara ya Niemann-Pick ishobora kubaho mu myaka itandukanye ariko cyane cyane igira ingaruka ku bana. Iyi ndwara nta muti uzwi kandi rimwe na rimwe ipfana. Ubuvuzi bugamije gufasha abantu kubana n'ibimenyetso byayo.

Ubwoko butatu nyamukuru bw'indwara ya Niemann-Pick bitwa A, B na C. Ibimenyetso bitandukanye cyane ariko biterwa ahanini n'ubwoko bw'indwara n'uburemere bwayo. Ibimenyetso bishobora kuba birimo: Gutakaza ubushobozi bwo kugenzura imitsi, nko kugendagenda nabi no kugira ibibazo mu gihe ugenda. Kugira intege nke z'imitsi no kugira umubiri udakomeye. Imitsi ikakaye kandi idakora neza. Ibibazo by'amaso, nko kubura ubwenge bw'amaso n'imiyoboro y'amaso idashobora kuyoborwa. Kubura kumva. Kugira ubwoba bwo gukora ku mubiri. Ibibazo byo kuryama. Ibibazo byo kwishima no kurya. Kuvuga nabi. Ibibazo byo kwiga no kwibuka bikomeza kuba bibi. Ibibazo byo mu mutwe, nko kwiheba, gukeka abandi no kugira ibibazo by'imyitwarire. Umwijima n'uruhago bikura cyane. Indwara zikunze kugaruka ziterwa na pneumonia. Bamwe mu bana bafite ubwoko A bagaragaza ibimenyetso mu mezi ya mbere y'ubuzima bwabo. Abafite ubwoko B bashobora kutagaragaza ibimenyetso mu myaka myinshi kandi bafite amahirwe meza yo kubaho kugeza bakuze. Abantu bafite ubwoko C bashobora gutangira kugira ibimenyetso mu myaka yose ariko bashobora kutazagira ibimenyetso kugeza bakuze. Niba ufite impungenge ku mikurire n'iterambere ry'umwana wawe, vugana n'umuganga wawe. Niba umwana wawe atacyashobora gukora imirimo yari asanzwe akora, reba umuganga wawe vuba.

Niba ufite impungenge ku mikurire n'iterambere ry'umwana wawe, hamagara umuganga wawe. Niba umwana wawe atakigeza gukora ibikorwa byamubereye byoroshye mbere, jya kwa muganga ako kanya.

Indwara ya Niemann-Pick iterwa n'impinduka mu gene runaka zifitanye isano n'uburyo umubiri usenya kandi ukoresha amavuta. Aya mavuta arimo cholesterol na lipide. Ihindurwa ry'imiterere ya gene rivanwa ku babyeyi ku bana mu buryo bwitwa gakondo ya autosomal recessive. Ibi bivuze ko umubyeyi w'umugore n'umugabo bagomba guha umwana gene yahindutse kugira ngo umwana agire iyo ndwara. Hari ubwoko butatu bw'indwara ya Niemann-Pick: A, B na C. Ubwoko bwa Niemann-Pick A na B byombi biterwa n'impinduka muri gene ya SMPD1. Iyi ndwara rimwe na rimwe yitwa acid sphingomyelinase deficiency (ASMD). Hamwe n'ihindurwa ry'imiterere ya gene, enzyme yitwa sphingomyelinase (sfing-go-MY-uh-lin-ase) ibura cyangwa ikora nabi. Iyi enzyme ikenewe gusenyura no gukoresha lipide yitwa sphingomyelin iri mu mitobe. Kwiyongera kw'amavuta bituma imitobe yangirika, kandi uko iminsi igenda, imitobe irapfa. Ubwoko bwa A ― ubwoko bukomeye cyane ― butangira mu buto. Ibimenyetso birimo umwijima ukura cyane, kwangirika cyane kw'ubwonko no kubura imitsi byiyongera uko iminsi igenda. Nta muti uraboneka. Abana benshi ntibabasha kubaho barenze imyaka mike. Ubwoko bwa B ― rimwe na rimwe bwitwa indwara ya Niemann-Pick itangira mu buto ― isanzwe itangira nyuma mu buto. Ntihagira ubwonko bwangirikwa. Ibimenyetso birimo ububabare bw'imitsi, ibibazo byo kugenda, ibibazo by'amaso, n'umwijima na spleen bikura cyane. Ibibazo by'ibihaha bishobora kubaho. Abantu benshi bafite ubwoko bwa B babaho bakura. Ariko ibibazo by'umwijima n'ibihaha birushaho kuba bibi uko iminsi igenda. Bamwe mu bantu bagira ibimenyetso bihuza ubwoko bwa A na B. Indwara ya Niemann-Pick ubwoko bwa C iterwa n'impinduka muri gene ya NPC1 na NPC2. Hamwe n'ihindurwa ry'imiterere ya gene, umubiri ntabona poroteyine ukeneye kugira ngo wimure kandi ukoreshe cholesterol na lipide izindi mu mitobe. Cholesterol na lipide izindi zikura mu mitobe y'umwijima, spleen cyangwa ibihaha. Uko iminsi igenda, imitsi n'ubwonko na byo bigira ingaruka. Ibi bituma habaho ibibazo byo guhindura amaso, kugenda, kurya, kumva no gutekereza. Ibimenyetso bitandukanye cyane, bishobora kugaragara mu myaka yose kandi bikarushaho kuba bibi uko iminsi igenda.