Indwara ya Niemann-Pick ni iki? Ibimenyetso, Intandaro, n’Ubuvuzi

Indwara ya Niemann-Pick ni indwara idasanzwe iterwa na gene, aho umubiri wawe udashobora gusenya amavuta na kolesteroli uko bikwiye. Ibi bibaho kubera ko ubuze cyangwa ufite intambara nke z’imisemburo runaka isanzwe ifasha gutunganya ibyo bintu mu mitobe yawe.

Iyo ayo mavuta akomeje kwiyongera, ashobora kugira ingaruka ku bice byinshi by’umubiri wawe, harimo umwijima, umwijima, ibihaha, ubwonko, n’ubwonko. Indwara ifite ubwoko butandukanye, buri bwoko bufite ibimenyetso n’igihe cyabyo.

Ni ubuhe bwoko bw’indwara ya Niemann-Pick?

Hari ubwoko butatu nyamukuru bw’indwara ya Niemann-Pick, kandi buri bwoko bugira ingaruka ku bantu mu buryo butandukanye. Gusobanukirwa ubwoko ufite cyangwa umuntu ukunda afite bifasha abaganga gutegura uburyo bwiza bwo kwita ku murwayi.

Ubwoko A ni bwo buremereye cyane kandi busanzwe bugaragara mu buto. Abana bafite ubu bwoko bakunda kugaragaza ibimenyetso mu mezi ya mbere y’ubuzima, birimo ibibazo byo konsa, umwijima n’umwijima binini, no gutinda kw’iterambere.

Ubwoko B busanzwe burushaho koroherera kandi bushobora kugaragara mu bwana, mu gihe cy’ubwangavu, cyangwa se no mu bukure. Abantu bafite ubwoko B basanzwe bafite imikorere isanzwe y’ubwonko ariko bashobora kugira ibibazo by’ibihaha, imyanya minini, n’ibibazo by’ubukure.

Ubwoko C butandukanye cyane na A na B. Bushobora kugaragara igihe icyo ari cyo cyose, kuva mu buto kugeza mu bukure. Ubu bwoko bugira ingaruka ahanini ku bwonko n’ubwonko, bigatuma habaho ibibazo byo kugenda, ibibazo byo kuvuga, no guhinduka mu kwiyumvisha no mu myitwarire.

Ni ibihe bimenyetso by’indwara ya Niemann-Pick?

Ibimenyetso ushobora kubona biterwa cyane cyane n’ubwoko bw’indwara ya Niemann-Pick urimo n’igihe yatangiye. Kumenya hakiri kare ibyo bimenyetso bishobora kugufasha kubona ubuvuzi bwiza vuba.

Ku bwoko A, bugira ingaruka ku bana bato, ushobora kubona:

• Ibibazo byo konsa no kudakura nk’uko bikwiye
• Inda y’ibyimba kubera umwijima n’umwijima binini
• Gutinda kugera ku ntambwe z’iterambere nko kwicara cyangwa kugenda
• Ubusembwa bw’imitsi n’imitsi idafite imbaraga
• Indwara z’ubuhumekero kenshi
• Agatsiko k’umutuku mu jisho abaganga bashobora kubona mu isuzuma

Hamwe n’ibimenyetso by’ubwoko B, bishobora kugaragara nyuma mu bwana cyangwa mu bukure, ushobora kugira:

• Guhumeka nabi cyangwa ibibazo by’ibihaha
• Kwishima cyangwa kuva amaraso byoroshye
• Umwijima n’umwijima binini bigatera ububabare mu nda
• Ibibazo by’amagufwa cyangwa kuvunika kenshi kw’amagufwa
• Uruhare rwinshi rwa kolesteroli mu bipimo by’amaraso
• Gutinda kw’ubukure mu bana

Ubwoko C bugira ibimenyetso bitandukanye bikunze kugaragara ku bwonko:

• Gukora nabi mu guhuza imitsi no kubungabunga umubiri
• Ibibazo byo kugenda kw’amaso, cyane cyane kureba hejuru no hasi
• Kutabaza cyangwa kugira ibibazo byo kurya
• Guhinduka mu myitwarire, mu mimerere, cyangwa mu bwenge
• Ibibazo byo kwiga cyangwa ibibazo byo kwibuka
• Imirire mu bamwe
• Kubura kumva gutera imbere uko igihe kigenda

Wibuke ko ibimenyetso bishobora gutandukana cyane ukurikije umuntu, ndetse no mu bwoko bumwe. Bamwe bafite ibimenyetso byoroheje bitera imbere buhoro buhoro, abandi bashobora kugira impinduka zihuse.

Ni iki gitera indwara ya Niemann-Pick?

Indwara ya Niemann-Pick iterwa n’impinduka mu gene zawe uzana mu babyeyi bawe. Izo mpinduka z’imisemburo zigira ingaruka ku buryo umubiri wawe ukora imisemburo runaka isenya amavuta na kolesteroli.

Ku bwoko A na B, ikibazo kiri mu gene ikora enzyme yitwa acid sphingomyelinase. Iyo iyo enzyme idakora neza, ibintu by’amavuta byitwa sphingomyelin byiyongera mu mitobe yawe, cyane cyane mu myanya nka umwijima, umwijima, n’ibihaha.

Ubwoko C burimo gene zitandukanye. Izo gene zisanzwe zifasha kwimura kolesteroli n’andi mavuta mu mitobe yawe. Iyo zitakora neza, kolesteroli ifungirwa mu mitobe aho gutunganywa uko bikwiye.

Ugomba kuragwa gene mbi yombi mu babyeyi kugira ngo urware iyo ndwara. Niba waragwa kopi imwe gusa ya gene yahindutse, witwa umuturage kandi ntushobora kugira ibimenyetso, ariko ushobora guha abana bawe iyo gene.

Ni ibihe bintu byongera ibyago byo kurwara indwara ya Niemann-Pick?

Ikintu nyamukuru cyongera ibyago byo kurwara indwara ya Niemann-Pick ni ukugira ababyeyi bombi bafite impinduka z’imisemburo ziterwa n’iyo ndwara. Kubera ko ari indwara iragwa, amateka y’umuryango agira uruhare runini.

Amwe mu matsinda y’abantu afite umubare munini w’abaturage b’ubwoko runaka. Urugero, ubwoko A bukunze kugaragara mu bantu bakomoka mu Bayahudi ba Ashkenazi, mu gihe ubwoko B bukunze kugaragara mu bantu bakomoka muri Afurika y’Amajyaruguru, cyane cyane muri Tunisia na Maroc.

Niba ufite amateka y’umuryango w’iyo ndwara cyangwa ukaba uri mu matsinda y’abantu bafite ibyago byinshi, inama y’abaganga ku birebana na gene ishobora kugufasha gusobanukirwa amahirwe yawe yo kuba umuturage cyangwa kugira umwana urwaye.

Ni ryari ukwiye kujya kwa muganga kubera indwara ya Niemann-Pick?

Ukwiye kuvugana n’umuganga wawe niba ubona ibimenyetso bishishikaje, cyane cyane niba bigenda biba bibi uko igihe kigenda. Ubuvuzi bwa vuba bushobora kugira uruhare runini mu gucunga iyo ndwara.

Ku bana bato n’abana bato, hamagara umuganga wawe niba ubona ibibazo byo konsa, gutinda kw’iterambere, cyangwa inda y’ibyimba idasa neza. Ibyo bimenyetso bisaba isuzuma ryihuse kugira ngo habeho gukuraho indwara zitandukanye, harimo indwara ya Niemann-Pick.

Abakuze bagomba gushaka ubuvuzi kubera ibibazo by’ibihaha bitasobanuwe, kwishima, ibibazo byo guhuza imitsi, cyangwa guhinduka mu kwiyumvisha no mu myitwarire. Nubwo ibyo bimenyetso bishobora kuba bifite impamvu nyinshi, ni ingenzi kubisuzuma neza.

Niba ufite amateka y’umuryango w’indwara ya Niemann-Pick kandi uteganya kubyara, tekereza kuvugana n’umujyanama ku birebana na gene mbere yo gutwita. Bashobora kugufasha gusobanukirwa ibyago n’uburyo bwo gupima buhari.

Ni ibihe bibazo bishobora guterwa n’indwara ya Niemann-Pick?

Ibibazo ushobora guhura na byo biterwa n’ubwoko bw’indwara ya Niemann-Pick ufite n’uburyo itera imbere uko igihe kigenda. Gusobanukirwa ibyo bishoboka bigufasha wowe n’itsinda ry’abaganga bawe kureba impinduka no gutegura ubuvuzi bukwiye.

Ibibazo bisanzwe mu bwoko butandukanye birimo:

• Ibibazo bikomeye by’ibihaha bishobora gutera ibibazo byo guhumeka
• Gucika intege kw’umwijima niba iyo myanya yangiritse cyane
• Ibyago byiyongereye byo kwandura kubera umwijima munini
• Ibibazo byo kuva amaraso iyo umusaruro w’uturemangingo tw’amaraso ugira ingaruka
• Ibibazo by’amagufwa birimo ibyago byiyongereye byo kuvunika

Ku bwoko C by’umwihariko, ibibazo by’ubwonko bikunze kuba bigoye cyane:

• Gutera imbere mu bibazo byo kugenda no guhuza imitsi
• Ibibazo byo kurya bishobora gutera guhumeka cyangwa indwara z’ibihaha
• Imirire ishobora kuba ikomeye uko igihe kigenda
• Guhinduka mu mikorere y’ubwonko no kwibuka
• Ibibazo byo kuvuga bishobora kugira ingaruka ku itumanaho

Nubwo ibyo bibazo byumvikana nk’ibyinshi, wibuke ko atari buri wese ubihura na byose. Itsinda ryawe ry’abaganga rizakorana nawe kugira ngo bakurikirane ibyo bibazo kandi babikemure uko bigaragara.

Indwara ya Niemann-Pick imenyekanwa gute?

Kumenya indwara ya Niemann-Pick bisaba intambwe nyinshi, kandi umuganga wawe azatangira asuzumye amateka yawe y’ubuzima n’isuzuma ry’umubiri. Azakubaza ibimenyetso byawe, amateka y’umuryango wawe, n’uburyo ibyo bimenyetso byagaragaye.

Isuzuma ry’amaraso rigira uruhare rukomeye mu kumenya indwara. Ku bwoko A na B, abaganga bashobora gupima imikorere ya enzyme yitwa acid sphingomyelinase mu uturemangingo tw’amaraso yera. Inzego nke zigaragaza ubwoko bw’iyo ndwara.

Ku bwoko C, inzira yo kumenya indwara irushaho kugorana. Umuganga wawe ashobora gupima uburyo utwebe twawe dufata kolesteroli mu gufata agace gato k’uruhu no gutera utwebe mu cyumba cy’ubushakashatsi. Bashobora kandi gupima ibintu byihariye mu maraso yawe cyangwa mu mpiswi.

Isuzuma rya gene rishobora kwemeza indwara mu kugaragaza impinduka zihariye z’imisemburo ziterwa n’ubwoko buri bwose. Iryo suzuma rishobora kandi gufasha kumenya neza ubwoko ufite, ibyo bikaba ari ingenzi mu gutegura ubuvuzi.

Rimwe na rimwe, ibizamini byiyongereye nko gufata amashusho y’imbere y’umubiri wawe cyangwa isuzuma ryihariye ry’amaso bifasha gushyigikira indwara no gusuzuma uburyo iyo ndwara igira ingaruka ku bice bitandukanye by’umubiri wawe.

Ni ubuhe buvuzi bw’indwara ya Niemann-Pick?

Ubuvuzi bw’indwara ya Niemann-Pick bugamije gucunga ibimenyetso no gushyigikira ubuzima bwawe, kubera ko nta muti urahari ku bwoko bwinshi. Ariko kandi, uburyo bw’ubuvuzi butandukanye cyane bitewe n’ubwoko ufite.

Ku bwoko C, hari umuti wemewe na FDA witwa miglustat ushobora gufasha kugabanya iterambere ry’ibimenyetso by’ubwonko. Uwo muti ukora mu kugabanya umusaruro w’ibintu bimwe na bimwe byiyongera mu mitobe yawe.

Ubuvuzi bwo gushyigikira bufasha mu bwoko bwose burimo:

• Ubuvuzi bw’umubiri kugira ngo ubungabunge ubushobozi bwo kugenda n’imbaraga
• Ubuvuzi bw’amagambo kubera ibibazo byo gutumanaho no kurya
• Ubuvuzi bw’imirimo kugira ngo ufashe mu bikorwa bya buri munsi
• Gushyigikira imirire kugira ngo ubone imirire ikwiye
• Ubuvuzi bw’ubuhumekero kubera ibibazo byo guhumeka
• Imiti yo gucunga ibimenyetso byihariye nko kwishima

Kubera ibibazo bikomeye by’ibihaha mu bwoko A na B, bamwe bagira akamaro mu kubaga ibihaha, nubwo ari icyemezo gikomeye gisaba kugenzura neza n’itsinda ry’abaganga bawe.

Kubaga umugufi w’inyuma byageragejwe mu bihe bimwe, ariko ibyavuye byari binyuranye kandi ntibyafatwa nk’ubuvuzi busanzwe kubantu benshi barwaye indwara ya Niemann-Pick.

Uburyo bwo gucunga indwara ya Niemann-Pick murugo?

Guhagarara indwara ya Niemann-Pick murugo bisaba guhanga ibidukikije bishigikira bifasha wowe cyangwa umuntu ukunda kugira ubuzima bwiza bushoboka. Impinduka nto za buri munsi zishobora kugira uruhare runini.

Fata umwanya wo kubungabunga imirire myiza, nubwo kurya bigoye. Korana n’umuganga w’imirire kugira ngo ubone ibiryo byoroshye kurya kandi biguha imirire myiza. Ibinyobwa byoroshye cyangwa ibiryo byoroshye bishobora kuba bikenewe uko kurya bigenda bigorana.

Komeza gukora imyitozo ngororamubiri uko bishoboka kose, uhindure imyitozo ukurikije ubushobozi bwawe. Gukora imyitozo myoroheje, kugenda, cyangwa koga bishobora gufasha kubungabunga imbaraga z’imitsi n’ubushobozi bwo kugenda. Umuganga wawe w’imyitozo ngororamubiri ashobora kugutegurira imyitozo ikwiye.

Hanga ibidukikije byiza murugo mu gukuraho ibintu bishobora gutera impanuka, gushyiraho ibikoresho byo gufata mu gihe ugiye kuzamuka cyangwa kugwa, no kugira umucyo mwiza mu nzu yawe. Ibyo bintu bigenda biba ingenzi uko ubushobozi bwo kubungabunga umubiri n’ubwenge bigenda bigenda.

Komeza gufatanya n’itsinda ry’abaganga bawe kandi ntutinye kuvugana nabo igihe ubona impinduka mu bimenyetso. Gukurikirana buri gihe bifasha kumenya ibibazo hakiri kare no guhindura ubuvuzi uko bikenewe.

Uko wakwitegura gusura umuganga wawe?

Kwitunganya neza mbere yo gusura umuganga wawe bigufasha kubyaza umusaruro igihe cyawe. Tangira wandike ibimenyetso byawe byose, harimo igihe byatangiye n’uburyo byahindutse uko igihe kigenda.

Zana urutonde rwuzuye rw’imiti yose, inyongeramusaruro, na vitamine ufata, harimo n’umwanya. Kandi usange ibisubizo by’ibizamini byabanje, inyandiko z’ubuvuzi, cyangwa raporo z’abandi baganga wabonye kubera ibyo bimenyetso.

Tegura urutonde rw’ibibazo ushaka kubaza. Tekereza kubaza ibyerekeye uburyo bw’ubuvuzi, icyo witeze uko indwara itera imbere, ubufasha, n’uburyo bwo guhangana n’ibibazo bya buri munsi uhura na byo.

Niba bishoboka, zana umuntu wo mu muryango wawe cyangwa inshuti yawe ya hafi ishobora kugufasha kwibuka amakuru akomeye yavuzwe mu gihe cy’isura. Bashobora kandi gutanga ibitekerezo byiyongereye ku mpinduka babonye.

Andika amateka y’ubuzima bw’umuryango wawe, cyane cyane abavandimwe bashobora kuba baragize ibimenyetso nk’ibyo cyangwa bagasuzumwa indwara z’imisemburo. Ayo makuru ashobora kuba afite akamaro mu isuzuma ry’umuganga wawe.

Icyo ugomba kumenya cyane ku ndwara ya Niemann-Pick?

Indwara ya Niemann-Pick ni indwara igoranye y’imisemburo, ariko kuyisobanukirwa neza bigufasha kugenda mu nzira uri imbere ufite icyizere cyinshi. Nubwo nta muti urahari, ubuvuzi no gushyigikira ubuzima bishobora kunoza cyane ubuzima no gufasha gucunga ibimenyetso.

Ikintu cy’ingenzi cyo kwibuka ni uko nturi wenyine muri ibi. Itsinda ry’abaganga bakomeye, ubufasha bw’umuryango, n’imiryango ishigikira abarwayi ishobora gutanga ubufasha n’amahirwe yo kuvugana n’abandi basobanukirwa ibyo urimo kunyuramo.

Ubushakashatsi ku miti mishya burakomeje, kandi igeragezwa ry’imiti rishobora gutanga amahitamo yiyongereye. Komeza gufatanya n’itsinda ryawe ry’abaganga ku birebana n’ubuvuzi bushya bushobora kuba bukwiriye ku mimerere yawe.

Fata umwanya wo kubungabunga ubuzima bwiza uko bishoboka kose mu gukorana n’abaganga, guhindura ibidukikije uko bikenewe, no kwishimira intsinzi nto uko zigenda zigaragara. Urugendo rwa buri muntu rufite indwara ya Niemann-Pick ni rwihariye, kandi buri gihe hari icyizere cyo gucunga neza no gushyigikirwa.

Ibibazo byakunda kubaza ku ndwara ya Niemann-Pick

Ese indwara ya Niemann-Pick irazica?

Ibyitezwe bitandukanye cyane bitewe n’ubwoko n’uburemere bw’indwara. Ubwoko A busanzwe bufite ibyitezwe bibi cyane, abana benshi batapfa batarageza mu buto. Ubwoko B bushobora guha ubuzima busanzwe hamwe no gucungwa neza, mu gihe ubwoko C butera imbere bitandukanye cyane ukurikije umuntu. Abantu benshi bafite ubwoko B na C babaho neza kugeza mu bukure bafite ubufasha bukwiye.

Ese indwara ya Niemann-Pick ishobora kwirindwa?

Kubera ko ari indwara iragwa, ntushobora kuyirinda umaze kugira impinduka z’imisemburo. Ariko kandi, inama y’abaganga ku birebana na gene mbere yo gutwita ishobora gufasha abashakanye gusobanukirwa ibyago byabo byo kugira umwana urwaye. Gupima mbere yo kubyara bihari ku muryango ufite amateka azwi y’iyo ndwara, bigatuma habaho gufata ibyemezo by’ubwenge ku bijyanye no gutwita.

Ese indwara ya Niemann-Pick yandura?

Oya, indwara ya Niemann-Pick ntiyandura. Ntushobora kuyikura ku muntu ufite iyo ndwara cyangwa kuyitwara ku bandi. Ni indwara y’imisemburo uragwa mu babyeyi bawe binyuze mu misemburo yabo, atari ikintu cyandura binyuze mu mubiri, mu kirere, cyangwa mu bundi buryo.

Ese indwara ya Niemann-Pick irahari?

Indwara ya Niemann-Pick ni nke cyane, igira ingaruka ku bantu bagera kuri 1 kuri 250.000 muri rusange. Ubwoko A bukunze kugaragara mu bana bagera kuri 1 kuri 40.000 mu matsinda y’abayahudi ba Ashkenazi ariko ni nke cyane mu yandi matsinda. Ubwoko B bukunze kugaragara mu matsinda amwe yo muri Afurika y’Amajyaruguru. Ubwoko C bugira ingaruka ku bana bagera kuri 1 kuri 150.000 mu matsinda y’abantu bose.

Ese abakuze bashobora kugira ibimenyetso by’indwara ya Niemann-Pick ku nshuro ya mbere?

Yego, cyane cyane ubwoko B na C. Ibimenyetso by’ubwoko B bishobora kugaragara ku ncuro ya mbere mu bukure, rimwe na rimwe bitagera ku bantu bafite imyaka 20, 30, cyangwa se nyuma. Ubwoko C bushobora kandi gutangira kugaragaza ibimenyetso igihe icyo ari cyo cyose, harimo n’abakuze batari bafite ibimenyetso byabanje. Niba ufite ibimenyetso by’ubwonko bitasobanuwe, ibibazo by’ibihaha, cyangwa ibindi bimenyetso bishishikaje, ni byiza kubivugana n’umuganga wawe nubwo utari warigeze ugira ibimenyetso mbere.