Ese uzi indwara ya PURA? Menya ibi bintu ku hazaza h'umwana wawe!

Ese hari igihe ugira gushidikanya cyangwa ubwoba ku mikurire y'umwana wawe? Hari igihe abana biga ibintu buhoro buhoro, cyangwa hakavuka ibibazo by'ubuzima. Mu bihe nk'ibi, bishobora kuba ingenzi kumenya indwara idakunze kugaragara yitwa PURA syndrome. Niba ibi bisa nkaho ari ibintu bikomeye, ntugatinye. Reka tubiganireho mu buryo bworoshye.

Indwara ya PURA ni iki?

Muri make, indwara ya PURA ni indwara idakunze kugaragara mu buryo bw’uturemangingo . Igira ingaruka cyane ku mikorere y’imitsi yacu. Ni ukuvuga ko ubwonko n’imitsi ari byo byibasirwa cyane. Kubera iyo mpamvu, imikurire y’umwana ishobora gutinda kuva ku rugero rwo hagati kugeza ku rugero rukomeye . Ishobora kandi gutera ubumuga bwo kwiga. Akenshi, abana bafite indwara ya PURA bashobora kugira ingorane zo kugenda, gucika intege cyangwa igicuri, n’izindi ngorane z’ubuzima.

Abashakashatsi bemeza ko ibi biterwa n'impinduka, cyangwa impinduka, mu ngirabuzimafatizo zigira uruhare mu iterambere ry'ubwonko n'uturemangingo tw'imitsi (uturemangingo tw'imitsi / neurons). Abana bavutse bafite iyi ndwara bashobora kugorwa no kurya no guhumeka mu ntangiriro. Ariko, rimwe na rimwe ibi biragenda neza nyuma y'igihe runaka. Ariko, abana benshi bashobora kutabasha kuvuga cyangwa kugenda bonyine iyo bamaze gukura.

Kugeza ubu nta muti uhari wa PURA syndrome. Ariko, ubuvuzi bukwiye bushobora kugufasha wowe n'umwana wawe guhangana n'ibimenyetso no kugabanya ingorane. Kubwibyo , ni ngombwa cyane kumenya iyi ndwara hakiri kare .

Ni nde ushobora kurwara indwara ya PURA?

Indwara ya PURA ni indwara ivukanwa . Ibi bivuze ko iyo ndwara ishobora kubaho igihe umuntu avuka. Igira ingaruka ku mitsi. Hari igihe iyo ndwara ishobora kwanduzwa ababyeyi n'abana binyuze mu turemangingo. Ariko, ni ngombwa kwibuka ko umwana ashobora kurwara PURA nubwo nta muntu n'umwe mu muryango wigeze agira iyo ndwara mbere . Ibi bivuze ko hashobora kuba harabayeho impinduka nshya mu turemangingo.

Ni ibihe bindi bintu bisa n'ibi?

Ibimenyetso bya PURA syndrome bishobora gusa n'ibindi, bityo rimwe na rimwe bishobora kugora abaganga guhita bamenya niba ari PURA syndrome. Dore zimwe mu ndwara zifite ibimenyetso bisa:

• `(Angelman syndrome)`
• Indwara yo kureka guhumeka neza mu mubiri - Iyi nayo ni indwara idakunze kugaragara mu mitsi ifata imyanya yo guhumeka.
• Kurwara kwa myotonic - Iyi ni imwe mu ndwara zo mu mitsi zitwa muscular dystrophy.
• Indwara ziterwa n'ubwonko - urugero, indwara ya Alzheimer cyangwa indwara ya Parkinson.
• Pitt-Hopkins syndrome - Iyi ni indwara idakunze kugaragara mu buryo bw'uturemangingo itera gutinda mu mikurire no gucika intege.
• `(Indwara ya Prader-Willi)`
• `(Indwara ya Rett)`

Kubera ko ibi bimenyetso bisa , hakenewe ibizamini byihariye kugira ngo hamenyekane neza indwara .

Ese hari andi mazina ya PURA syndrome?

Yego, hari igihe abaganga bashobora kwita iyi ndwara andi mazina ya siyansi. Ni byiza kumenya bike kuri ibyo, si byo se? Urugero:

• `(Gutinda kw'iterambere ry'ubwenge, autosomal dominant 31)`
• `(Indwara y'imikurire y'ubwonko ifitanye isano na PURA)`
• `(indwara ikomeye iterwa na PURA-hypotonia-seizures-encephalopathy syndrome)`

Nubwo aya mazina ashobora gusa n'aho agoye gato, yose yerekeza ku mimerere imwe.

Indwara ya PURA ikunze kugaragara gute?

Indwara ya PURA mu by’ukuri ni indwara idakunze kugaragara . Kugeza ubu, abantu bakuru n’abana barenga 470 bavuzwe ko bafite iyi ndwara ku isi yose. Tekereza gato, ni ko abantu bake bameze. Urwego rw’ubuvuzi rwatangiye kuvuga kuri iyi ndwara mu 2014. Ibyo bivuze ko ari indwara nshya.

Ni iyihe sano iri hagati ya PURA syndrome na epilepsy?

Abantu benshi bavukanye indwara ya PURA bafite ibyago byinshi byo kurwara igicuri . Hari igihe iyi ishobora kuba ubwoko bw'igicuri kidakira imiti. Ibi bivuze ko bigoye kuyigenzura ukoresheje imiti. Ubwoko bukunze kugaragara bw'igicuri ni igicuri cyangwa igicuri rusange. Ibi bimenyetso akenshi bitangira mu bwana cyangwa mu bwana .

Ni izihe mpamvu zitera indwara ya PURA? (mu magambo arambuye)

Nkuko twabivuze, impamvu nyamukuru itera PURA syndrome ni impinduka mu ngirabuzimafatizo runaka mu mubiri wacu yitwa `(PURA gene)`. Iyi ngirabuzimafatizo ya `(PURA)` igira uruhare runini mu mikurire isanzwe y'ubwonko. Rero, iyo habayeho inenge muri iyi ngirabuzimafatizo, ishobora kugira ingaruka ku mikurire y'uturemangingo tw'imitsi `(neurons)` no kuremwa kw'ikintu cyitwa `(myelin)`. `(Myelin)` ni ikintu gitwikira imitsi yacu kandi kigafasha ibimenyetso kunyuramo vuba. Tekereza rero uburyo imikorere y'ubwonko igira ingaruka iyo iyi gahunda ihungabanye.

Ni ibihe bimenyetso by'indwara ya PURA?

Ibimenyetso bya PURA syndrome bishobora gufata ibice bitandukanye by'umubiri. Abana bavukanye iyi ndwara bagira ubumuga bwo mu mutwe buri hagati y'ubusanzwe n'ubutinda mu mikurire .

Ibimenyetso bishobora kugaragara ku bana bavutse:

• Akenshi habaho ingorane mu kugaburira cyangwa guhumeka .
• Ubufasha bwa muganga (kugaburira cyangwa guhumeka) bushobora gukenerwa, ariko ibibazo byo guhumeka akenshi biragabanuka mu mwaka umwe.
• Kugorwa no kurya cyangwa kumira (dysphagia) rimwe na rimwe bishobora kuba akarande kandi bikamara igihe kirenga umwaka.

Ibimenyetso bishobora kugaragara ku bana bakuru gato:

• Ushobora kuba udashobora kugenda neza , kandi ubushobozi bwawe bwo kugenda bushobora kuba bwangiritse.
• Nubwo waba wumva ururimi, ushobora kutabasha kuruvuga .
• Nubwo bashobora kuvuga, bashobora kuvugana mu magambo magufi cyane cyangwa mu nteruro ngufi .

Abantu benshi barwaye PURA syndrome bagira igicuri cyangwa imitsi yo mu bwonko. Ibi akenshi ni ibi bikurikira:

• Bitangira mbere y'imyaka 5. Bishobora gutangira nk'imitsi ihindaguritse idakora ku bushake (myoclonus).
• Biragoye kugenzura .
• Hari igihe ishobora guhinduka igicuri gikomeye kandi kigoye cyitwa "Lennox-Gastaut syndrome".

Izindi bimenyetso bikunze kugaragara ku bana n'abantu bakuru:

• Ibibazo by'amagufwa n'ingingo - nko kubabara mu kibuno no kubabara mu bwonko.
• Ibibazo byo guhumeka - guhumeka mu gihe cyo gusinzira (apnea yo mu gihe cyo gusinzira) cyangwa guhumeka buhoro kandi mu buryo buciriritse (hypoventilation).
• Kugorwa no gushyushya umubiri (hypothermia).
• Umunaniro ukabije n'ibitotsi (hypersomnia).
• Ibibazo by'amaso - nka strabismus.
• Kubabara kenshi.
• Ibibazo by'igifu - nko kutagira impatwe.
• Imitsi ikagira umuvuduko muke (hypotonia).
• Kudahuzagurika cyangwa kugorwa no kugenda (indwara yo kugenda).
• Ubumuga bwo kutabona neza.

Ibimenyetso bidakunze kugaragara:

• Indwara z'umutima.
• Ibibazo by'imikorere y'imisemburo - nko kubura vitamine D cyangwa ubugimbi butaragera.
• Ibibazo by'inkari n'imyanya myibarukiro.

Indwara ya PURA ipimwa ite?

Indwara ya PURA ishobora kugorana kuyisuzuma hashingiwe ku isuzuma ry’umubiri gusa. Nkuko twabivuze mbere, ibimenyetso bishobora gusa n’ibindi. Kubwibyo, abaganga bagomba gukora ibizamini bya genetiki kugira ngo bemeze ko ari indwara ya PURA .

Bitewe n'ibimenyetso by'umwana wawe, muganga ashobora no gukora ibindi bipimo. Urugero:

• Gupima amaraso.
• Ibizamini byo guhumeka.
• `(EEG)` (Electroencephalogram) - Ibi bipima imikorere y'amashanyarazi y'ubwonko.
• Isuzuma ry'amaso.

Kugira ngo umenye byinshi, muganga wawe ashobora no gutumiza ibizamini byo gufata amashusho. Ibi birimo:

• Isuzuma rya MRI (Magnetic Resonance Imaging).
• `(Ikizamini cya Ultrasound)`.
• Ikizamini cya `(X-ray)`.

Ese hari umuti wa PURA syndrome?

Iki ni cyo kibazo gikomeye ku bantu benshi. Mu by'ukuri, nta muti wuzuye wa PURA syndrome uhari.Ariko, kumenya no kuvura hakiri kare bishobora kugabanya ibyago byo guhura n’ingorane nka scoliosis. Abaganga bashobora kukugira inama yo kugufasha wowe n’umwana wawe guhangana n’ibimenyetso. Iyo uvuwe neza, umwana wawe ashobora kwitabira ibikorwa byinshi bishoboka kandi bikoroshya ubuzima .

Ni bande bashobora gushyirwa mu itsinda rishinzwe kuvura indwara ya PURA y'umwana wawe?

Niba umwana wawe afite indwara ya PURA, itsinda ry’abaganga rishobora kuba ririmo inzobere zitandukanye. Ibi bivuze ko nta muganga umwe gusa uhari, ahubwo hari abantu benshi bakorana kugira ngo batange ubuvuzi bwiza ku mwana wawe. Itsinda nk’iryo rishobora kuba ririmo abantu nka:

• Inzobere mu by'amaso.
• Inzobere mu by'imiterere y'uturemangingo.
• Umuganga w’inzobere mu bijyanye n’imitsi (ubwonko).
• Umuganga w’inzobere mu by’akazi - umuntu ufasha mu mirimo ya buri munsi.
• Umuganga w'indwara z'amagufwa.
• Umuganga w'abana.
• Umuvuzi w’umubiri ni umuntu ufasha mu bintu nko kugenda no kwimuka.
• Umuganga w’inzobere mu bijyanye n’imitsi y’ubuhumekero (pulmonologist).
• Inzobere mu ndwara z'imivugire.

Aba bantu bose bakorana kugira ngo bakore gahunda yo kuvura ijyanye neza n'uburwayi bw'umwana.

Indwara ya PURA ivurwa ite?

Uburyo bwo kuvura indwara ya PURA butandukana bitewe n'ibimenyetso by'umwana n'ubukana bwabyo . Iyo umwana ukiri muto afite indwara ya PURA, akenshi azakenera gukurikiranwa mu bitaro no guhabwa ubufasha mu kugaburira no guhumeka.

Abana bakuru bakunze gufatwa gutya:

• Kuvura imvugo n'indimi - Kongera ubumenyi mu itumanaho.
• Ubuvuzi bw'umubiri - Kongera ubushobozi bwo kugenda.
• Mu bihe bimwe na bimwe, kubagwa bishobora gukorwa kugira ngo hakosorwe indwara zo mu maso, mu mutima, mu magufwa, cyangwa izindi ndwara.

Ushobora kandi guha umwana wawe ibintu nk'ibi:

• Imiti igabanya ubukana bw'indwara.
• Imfashanyigisho mu itumanaho.
• Inkunga yo kugaburira cyangwa kumira.
• Ubuvuzi bw'umubiri n'ubw'akazi.
• Ubuvuzi bw'imivugire n'indimi.
• Ibikoresho byo gufasha - nk'amagare yo kwimenyereza abarwayi, ibyuma bifasha mu guhagarara kw'amaguru, ibyuma bifasha mu guhagarara kw'amaguru, amagare y'abagenda n'amaguru, cyangwa amagare y'abamugaye.

Ni iki nakora kugira ngo tugabanye ibyago by'uko umwana wanjye yarwara PURA syndrome?

Iki ni ikintu ababyeyi benshi batekerezaho. Ariko ukuri ni uko nta buryo bwo kwirinda indwara ya PURA buhari . Nanone,Ntabwo biterwa n'ikintu icyo ari cyo cyose ukora. Biterwa n'impinduka mu miterere y'uturemangingo (mutations) ziba mu gihe umwana akura. Ntukigire icyaha rero.

Ni iki kizere cy’umwana urwaye PURA syndrome?

Indwara ya PURA ni indwara ibaho ubuzima bwose kandi idakira . Abana benshi bashobora kugira ubumuga bwo mu mutwe buri hagati y’ubusanzwe n’ubutinda mu mikurire. Benshi bashobora kudashobora kuvuga cyangwa kugenda bonyine . Ariko, ibuka ko ubuvuzi bwiza bushobora guha umwana wawe ubuzima bwiza . Iyo avuwe, nabo bashobora kwishima no gukura neza.

Ni ryari nkwiye gushaka inama z'abaganga ku mwana wanjye?

Gutahura indwara ya PURA hakiri kare ni ingenzi kugira ngo umenye ibimenyetso kandi ugabanye ibyago byo kurwara . Abaganga bashobora gukora isuzuma buri gihe kugira ngo basuzume ubuzima bw'umwana wawe n'ibimenyetso bye. Muganga wawe azagufasha gutegura gahunda yihariye yo kwita ku mwana wawe ijyanye n'ibyo akeneye n'intego ze.

Ni ibisanzwe kumva uremerewe kandi uhangayitse iyo umenye ko ufite indwara nka PURA syndrome. Iyi ni indwara idakunze kugaragara cyane ifata imitsi, igatera ubumuga bukomeye mu myigire, gutinda mu mikurire, ndetse akenshi n'igicuri. Ariko, hamwe n'uburyo bwiza bwo kuvura, umwana wawe ashobora kugira ubuzima bwiza . Vugana na muganga wawe ku miti ivura neza ishobora kugira icyo ihindura uko umwana wawe akura. Ntabwo uri wenyine , kandi hari abaganga, abaganga b'inzobere mu kuvura indwara, n'abandi benshi bashobora kugufasha muri uru rugendo.

Hanyuma, ibintu by'ingenzi ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Nubwo indwara ya PURA ari indwara idakunze kugaragara mu maraso, ni ngombwa cyane kuyimenya.

• Ibi bigira ingaruka cyane cyane ku mikorere y'ubwonko kandi bishobora gutera indwara nko gutinda mu mikurire, ubumuga bwo kwiga, n'igicuri.
• Gusuzuma hakiri kare no gutangira kuvurwa neza bigira uruhare runini mu kunoza ubuzima bw'umwana.
• Nubwo nta muti wuzuye uhari, hari uburyo butandukanye bwo kuvura kugira ngo hagenzurwe ibimenyetso no kugabanya ingorane .
• Itsinda ry'abaganga b'inzobere zitandukanye rikorana kugira ngo rihe umwana ubuvuzi bukenewe.
• Nta buryo bwo gukumira iki kibazo, kandi nk'ababyeyi, ntimugomba kumva mufite icyaha .
• Niba ufite impungenge ku mikurire y'umwana wawe cyangwa ubuzima bwe, ntugatinye ahubwo ushake inama kwa muganga ako kanya . Icyo ni cyo kintu cyiza ushobora gukora.

Wibuke ko buri mwana ari uw'agaciro, kandi buri mwana akwiye urukundo n'ubwitonzi bwiza.

"Indwara ya PURA, indwara zikomoka ku ngirabuzimafatizo, uturemangingo tw'imitsi, gutinda mu mikurire, igicuri, ubuzima bw'umwana, indwara zidasanzwe