Ese wabonye ko umwana wawe agira ibibazo byo kudakura cyangwa imyitwarire idasanzwe mu gihe gishize? Hari igihe dutekereza ko ibi ari ibintu bisanzwe bibaho ku bana uko bakura, ariko bishobora kuba ibimenyetso bya mbere by'indwara idakunze kugaragara yitwa Sanfilippo Syndrome. Izina ntirigutere ubwoba. Ni indwara idakunze kugaragara. Ariko ni ngombwa ko ababyeyi babimenya. Reka tubiganireho mu buryo bwumvikana kandi bworoshye.
Sanfilippo Syndrome ni iki mu by'ukuri?
Muri make, iyi ni indwara idakunze kugaragara mu buryo bw'uturemangingo igira ingaruka ku mikorere y'umubiri w'umwana ndetse n'imikurire y'ubwonko bwe. Yitwa kandi mucopolysaccharidosis type III.
Tekereza umubiri wacu nk'uruganda runini. Kugira ngo uru ruganda rukore neza, hari ibintu bimwe na bimwe bigomba gusenywa, gusenywa, gusukurwa, no gukurwaho. Abakozi bato bafasha muri uyu murimo bitwa enzymes . Umwana urwaye Sanfilippo syndrome nta enzymes z'ingenzi abura.
Iyo hatabayeho iyi enzyme, imyuka isanzwe yitwa heparan sulfate ntishobora kwangirika neza ngo ivanwe mu mubiri. Ahubwo, itangira kwirundanya mu turemangingo tw'umubiri. Ni nk'imyanda iri mu ruganda idasukurwa. Iyi miterere y'ibintu ibikwa mu bice biri mu turemangingo twitwa lysosomes . Niyo mpamvu iyi ndwara yitwa kandi indwara yo kubika lysosomes .
Iyo iyi myanda yiyongera, uturemangingo ntidushobora gukora neza. Uko igihe kigenda gihita, ibi bishobora kwangiza ingingo, kudindiza gukura, guteza ibibazo by'imyitwarire, no kwangiza cyane uturemangingo tw'imitsi.
Iyi ndwara ni gake cyane. Ifata umuntu umwe mu bavuka 70.000. Impuzandengo y'imyaka abana barwaye iyi ndwara ni hagati y'imyaka 10 na 20. Ariko, iyo hari umuntu wo mu muryango wigeze kugira iyi ndwara mbere, ibyago byo kuyirwara biba byinshi.
Ese hari ubwoko butandukanye bw'iyi ndwara?
Yego, hari ubwoko bune bw'ingenzi bw'iyi ndwara. Hari ubwoko bune bwa enzymes zifasha mu gusenya heparan sulfate twavuze mbere. Rero, ubwoko bw'indwara bugenwa n'ubwoko muri ubu bune bwa enzymes budafite akamaro . Hari ubwoko bumwe bushobora kuba budakomeye cyane kurusha ubundi.
| Ubwoko bw'indwara | Ingingo zihariye | Impuzandengo y'igihe cy'ubuzima |
|---|---|---|
| Ubwoko A | Ubwoko bukunze kugaragara cyane kandi bukomeye. Ibimenyetso bigaragara vuba. Umwana ashobora gutakaza ubushobozi bwo kugenda no kuvuga vuba. | Imyaka igera kuri 15. |
| Ubwoko B | Bitari bikomeye cyane ugereranyije n'ubwoko bwa A. Ibimenyetso bigenda buhoro buhoro. | Afite imyaka igera kuri 19. |
| Ubwoko C | Ubwoko budasanzwe cyane. Ibimenyetso bigenda buhoro buhoro. Ubushobozi nko kugenda no kuvuga bumara igihe kirekire. | Afite imyaka igera kuri 23. |
| Ubwoko D | Ubwoko budasanzwe. Ibimenyetso bikura buhoro buhoro. Haracyari amakuru make cyane kuri ibi. | Ntibishoboka kuvuga neza. |
Icy'ingenzi: Ibi bihe by'ubuzima ni ibisanzwe gusa. Buri mwana aratandukanye. Kubwibyo, bishobora gutandukana bitewe n'imimerere y'umwana ku giti cye.
Ni ibihe bimenyetso by'iyi ndwara?
Ibimenyetso bya mbere bikunze kugaragara hagati y'umwana n'imyaka 2. Ariko, hari igihe ababyeyi bashobora kutabimenya, cyangwa abaganga bakabyitiranya n'izindi ndwara (urugero: autisme).
| Ubwoko bw'imiterere | Ibimenyetso bikunze kugaragara |
|---|---|
| Ibimenyetso bya mbere | |
| Iterambere n'imyitwarire | Gutinda kuvuga no kugabanya intambwe z'iterambere mu mikurire y'umuntu, imyitwarire nk'iya autism, gukora cyane, kwandura indwara zo mu matwi no mu mazuru kenshi, ibibazo byo gusinzira (kubura ibitotsi/kubyuka). |
| Imiterere y'umubiri | Isura igaragara nabi gato (agahanga n'amaso bigaragara, iminwa yuzuye n'izuru), ubwoya bwinshi ku mubiri (hirsutism), umutwe munini kuruta ibisanzwe (macrocephaly), na hernia y'inkondo y'umura. |
| Ibindi | Kuziba kw'inzira yo hejuru y'ubuhumekero bihoraho, impiswi idashira. |
| Ibimenyetso bya nyuma | |
| Ubushobozi bwagabanutse | Kugabanuka k'ubushobozi bwo kwiga, gutekereza no gukora imirimo, ndetse no kubura ubushobozi bwo kugenda, kuvuga, kurya no kumva uko igihe kigenda. |
| Impinduka mu mubiri | Isura irushaho kugaragara, ingingo zigakomera , ubwonko bugacika intege, igicuri kikarushaho kwiyongera, umwijima cyangwa urwagashya rukarushaho kwiyongera. |
| Imyitwarire | Ibibazo by'imyitwarire, gukora cyane, no gukora ibintu mu buryo butunguranye birarushaho kwiyongera. |
Isura yihariye y'amaso
Ababyeyi bashobora kubona impinduka mu maso ku bana bafite iyi ndwara, cyane cyane iyo bari kumwe n'abavandimwe babo. Ijisho rinini kandi rinini kurusha uko bisanzwe.Ikintu cyihariye cy’iyi ndwara ni uko rimwe na rimwe izi mboni ebyiri ziba zifatanye, bigatuma zisa n’ijisho rimwe ku gahanga. Iki kintu kirushaho kugaragara uko umwana akura.
Ni gute wasuzuma indwara?
Kubera ko ari indwara idakunze kugaragara kandi ibimenyetso byayo bisa n'ibindi, abaganga ntibayipima mu ntangiriro zayo. Ariko ni ngombwa cyane kuyisuzuma hakiri kare kugira ngo umwana abone ubufasha n'ubuvuzi akeneye.
Niba umwana wawe afite ikibazo cyo kudakura neza, ubusembwa bwo kuvuka, hamwe na bimwe mu bimenyetso bya mbere twavuzeho, muganga wawe ashobora kukwohereza kugira ngo upimwe imiterere y’umubiri cyangwa imiterere y’umubiri.
- Ikizamini cy'inkari: Ikizamini cya mbere kigomba gukorwa ni ikizamini cy'inkari. Iyo urugero rwa heparan sulfate mu nkari z'umwana ruri hejuru, ni ikimenyetso cy'uko indwara ya Sanfilippo ishobora kuba ihari.
- Isuzuma ry'amaraso: Isuzuma ry'amaraso rikorwa kugira ngo hemezwe indwara. Ibi bireba niba imikorere ya enzyme ijyanye nayo iri hasi.
Niba ufite impungenge ku mikurire y'umwana wawe cyangwa imyitwarire ye, ntukigere utinya gufata ibyemezo wenyine. Ikintu cyiza wakora ni ukuganira na muganga w'abana kuri ibi.
Ni ubuhe buryo bwo kuvura?
Ikibabaje ni uko nta muti uhari wa Sanfilippo syndrome, bityo intego nyamukuru y'abaganga ni ugutanga ubufasha . Ni ukuvuga kugenzura ibimenyetso no guha umwana ubuzima bwiza bushoboka igihe cyose gishoboka.
Uburyo butandukanye bwo kuvura n'ubuvuzi bukoreshwa kuri ibi:
- Ubuvuzi bw'ururimi: Gutinda kuvuga ni ikimenyetso gisanzwe. Umuganga w'imivugire afasha umwana kuvugana n'amagambo n'ibimenyetso (urugero: amakarita y'amashusho).
- Uburyo bwo kugaburira umwana: Uko indwara ikomeza kwiyongera, guhekenya no kumira biragorana. Umuganga w’inzobere mu kugaburira umwana azashyiraho uburyo bwo gufasha umwana kurya neza.
- Ubuvuzi bw'umubiri: Ubu buvuzi bufasha umwana kugenda igihe kirekire gishoboka, gukomeza gukomera no kugumana uburinganire. Iyo bibaye ngombwa, bushobora no kumufasha kubona ibikoresho nk'ikigare cy'abamugaye.
- Ubuvuzi bw'akazi: Ubu buvuzi bufasha gukomeza kugira ubuhanga bwo gukora imitsi, nko kwambara no gufata ibikinisho, igihe cyose gishoboka.
Byongeye kandi, hari uburyo bwo kuvura bwakorewe igerageza ku isi, nka Enzime Replacement Therapy (ERT) na Gene Therapy.
Wowe, urera umwana, ugomba no gutekereza kuri wowe ubwawe.
Kwita ku mwana ufite ikibazo nk'iki kidasanzwe ni inshingano ikomeye. Kandi ni ukwigomwa gukomeye. Ni ibisanzwe kumva uremerewe, ufite stress, ufite agahinda, kandi ufite ishavu muri uru rugendo.
Ntabwo ari ngombwa ko unyura muri uru rugendo wenyine. Uramutse uhawe ubufasha n'ubuhanga bukwiye, ushobora kwita ku mwana wawe neza.
Rero, ntukibagirwe gutekereza kuri wowe ubwawe ndetse no ku mwana wawe.
- Saba ubufasha ku muntu wizeye.
- Teganya umwanya wawe wo kuruhuka gato.
- Ganira n'umuryango wawe cyangwa umuganga wawe ku byiyumvo byawe. Niba bibaye ngombwa, shaka ubufasha bw'umujyanama mu by'ubuzima bwo mu mutwe.
Wibuke ko kugira ngo uhe umwana wawe ibyiza, ugomba kubanza kugira ubuzima bwiza .
Ubutumwa bwo kujyana mu rugo
- Sanfilippo Syndrome ni indwara idakunze kugaragara mu buryo bw'uturemangingo igira ingaruka ku gikorwa cyo gukuraho imyanda mu mubiri.
- Ibimenyetso bya mbere birimo gutinda gukura, ingorane zo kuvuga, gukora cyane, n'imiterere yihariye mu maso.
- Nubwo nta muti wihariye w’iyi ndwara uhari, uburyo butandukanye bwo kuvura bushobora kugenzura ibimenyetso no guha umwana ubuzima bwiza.
- Niba ufite gushidikanya ku mikurire y'umwana wawe, hita ugana muganga w'abana kugira ngo akugire inama.
- Kubera ko kwita ku mwana nk'uyu bigoye, ni ngombwa cyane ko nawe nk'umubyeyi wita ku buzima bwawe bw'umubiri n'ubwo mu mutwe.
💬 Comments (0)
Kwipimisha kanseri y'ibere, kwisuzuma no kwirinda byakozwe byoroshye. Kanseri y'ibihaha
Ishyirireho intego ya calorie hanyuma ubare itariki yo kugabanya ibiro.