Ese umwana wawe afite iyi ndwara idasanzwe? Reka twige ku ndwara ya Shwachman-Diamond (SDS)

Ese umwana wawe ahora arwara? Ntabwo yongera ibiro? Cyangwa hari impinduka ubona mu magufwa ye? Hari igihe ibi bishobora guterwa na Syndrome ya Shwachman-Diamond (SDS), indwara idakunze kugaragara mu ngirabuzimafatizo ifata abana. Reka tubiganireho mu buryo bworoshye ushobora gusobanukirwa.

Indwara ya Shwachman-Diamond syndrome (SDS) ni iki?

Muri make, indwara ya Shwachman-Diamond syndrome (SDS) ni indwara idakunze kugaragara mu ngirabuzimafatizo , ikaba yibasira cyane cyane pancreas, umwongo w'amagufwa n'amagufwa mu bana. Ikunze kumenyekana mbere y'uko umwana agira umwaka umwe. Ariko, rimwe na rimwe ishobora kumenyekana mu bakiri bato.

SDS ni indwara igoye kuyisuzuma no kuyivura kuko ishobora gutera ibimenyetso bitandukanye. Umwana ashobora kugira kimwe, byinshi, cyangwa byose muri ibi bimenyetso. Urugero, umwana umwe ashobora kugira ibibazo bya pancreas n'amagufwa, mu gihe undi mwana ashobora kugira ibibazo by'umusemburo w'amagufwa gusa.

Ni indwara idashoboka kandi idashobora gusobanurwa. Ibimenyetso by'abana bishobora kuba byoroheje cyangwa bikomeye. Ibi bimenyetso bishobora guhinduka uko igihe kigenda gihita. Kubera ko abana barwaye SDS bafite ibibazo bitandukanye by'ubuvuzi, abana benshi bakeneye ubufasha bw'itsinda ry'inzobere . Nubwo abana bafite iyi ndwara bazakenera ubuvuzi ubuzima bwabo bwose, akenshi bashobora kubaho ubuzima busanzwe. Ariko, bamwe mu bana n'abakuze bashobora kurwara kanseri y'amaraso ishobora gushyira ubuzima bwabo mu kaga (Acute Myeloid Leukemia) cyangwa indwara ikomeye y'amaraso (Myelodysplasia).

Ese iki ni ikibazo gisanzwe?

Biragoye kuvuga neza. Abaganga bafata indwara ya Shwachman-Diamond nk'indwara idasanzwe. Ariko hari ibipimo by'abana gusa bafite iyi ndwara. Hari ibipimo bivuga ko iyi ndwara ari imwe mu bana 75.000 bavuka . Impamvu y'iki gipimo cy'isesengura ni uko abana bashobora kugira ibimenyetso byoroheje cyangwa bikomeye, abana bose si ko bafite ibimenyetso bimwe, kandi nta kizamini kimwe cyagenwe cyo gusuzuma iyi ndwara.

Ese abantu bakuru nabo barwara indwara ya Shwachman-Diamond syndrome (SDS)?

Bitandukanye n'ibibazo bimwe na bimwe by'uburwayi mu bwana, indwara ya Shwachman-Diamond ntabwo ishira uko abana bakura. Ibimenyetso n'uburyo bwo kuyivura bishobora guhinduka uko igihe kigenda gihita, ariko abana bafite iyi ndwara bazakenera ubuvuzi ubuzima bwabo bwose .

Iyi ndwara igira ingaruka zite ku mubiri w'umwana wanjye?

Indwara ya Shwachman-Diamond ishobora gutera ibibazo byinshi by’uburwayi, ariko hari ingaruka eshatu z’ingenzi:

1. Kubura imikorere ya pancreas mu nda:Pancreas y'umwana wawe ni urugingo ruherereye inyuma y'igifu. Rurimo ubwoko bw'uturemangingo twitwa acinar cells. Utu turemangingo dukora enzymes zifasha mu gusya ibiryo. Izi enzymes zisenya intungamubiri n'ibinure biri mu biribwa kugira ngo umubiri ubashe kubikurura. Ku bana bafite SDS, pancreas ntikora izi enzymes zihagije. Kubera iyo mpamvu, umwana ntabona intungamubiri akeneye.

2. Imikorere mibi y'umusemburo w'amagufwa: Umusemburo w'amagufwa y'umwana wawe ukora uturemangingo dutukura tw'amaraso, uturemangingo tw'umweru, na plaquettes. Ku bana bafite SDS, umusemburo w'amagufwa ukora uturemangingo duke ugereranije n'ibisanzwe. By'umwihariko, ntukora ubwoko buhagije bw'uturemangingo tw'amaraso tw'umweru twitwa neutrophils . Neutrophils ni uturemangingo dusanzwe turinda umubiri abawutera nka bagiteri. Bamwe mu bana bafite SDS ntibaba bafite uturemangingo duhagije two kurwanya utwo dukoko. Iyi ndwara yitwa neutropenia . Abana bafite neutropenia bakunze kurwara indwara za bagiteri nka pneumonia, indwara zo mu matwi yo hagati, cyangwa indwara z'uruhu.

3. Ubusembwa bw'amagufwa: Abana bafite SDS bashobora kugira indwara nka scoliosis, kugabanuka kw'amagufwa mu maboko no ku maguru ku buryo budasanzwe (chondrodysplasia), cyangwa igituza gito cyane, gifite ishusho nk'iy'inzogera (dystrophy yo mu gituza).

Ni izihe ngorane ziterwa na syndrome ya Shwachman-Diamond (SDS)?

Abantu bafite iyi ndwara baba bafite ibyago byinshi byo kurwara uturemangingo tw’amaraso tudasanzwe (`(myelodysplasia)`) . Nyuma yaho dushobora kuvamo kanseri y’amaraso yitwa `(acute myeloid leukemia)` .

Ni ibihe bimenyetso by'indwara ya Shwachman-Diamond syndrome (SDS)?

Iyi ndwara ishobora kugira ingaruka ku bice byinshi by'umubiri w'umwana. Ariko ibimenyetso bikunze kugaragara ni ibya pancreas, umwongo w'amagufwa, n'urusobe rw'amagufwa. Hari abantu bashobora kugira ibimenyetso ubwo bavukaga, ubwo bari mu bwana, cyangwa mu bwana bwabo. Hari umubare muto w'abantu bashobora kugira ibimenyetso ubwo bari mu bwana.

Ibimenyetso bisanzwe:

• Kunanirwa gukura: Ibi bivuze ko umwana wawe atarimo kwiyongera ibiro. Mu gihe afite SDS, ibi bishobora guterwa no kudakora neza kw'igogora.
• Umunaniro: Umwana unaniwe ashobora kurakara no gucika intege.
• Imyanya minini, ifite amavuta, kandi ihumura nabi: Imyanya y'umwana wawe ishobora kuba minini cyane, isa n'amavuta, kandi ifite impumuro mbi.
• Kwandura indwara zikomeye zigaruka: Iyo indwara za bagiteri zikomeje kwiyongera, bishobora kuba ikimenyetso cya SDS.
• Impinduka zigaragara mu magufwa y'amaboko n'amaguru: Amaboko n'amaguru by'abana ashobora kuba magufi ugereranije n'umubiri wabo.

Ni iki gitera indwara ya Shwachman-Diamond syndrome (SDS)?

Hafi 90% by'abana bafite SDS bafite impinduka muri gene ya `SBDS` . Ubushakashatsi bwagaragaje ko iyi mpinduka ishobora kuragwa n'ababyeyi bombi (`(autosomal recessive manner)`) cyangwa n'umubyeyi umwe maze hakabaho impinduka nshya. Abashakashatsi ntibaramenya neza impamvu impinduka muri gene ya `SBDS` zitera SDS.

Ni gute abaganga basuzuma iyi ndwara?

Abaganga bazakora isuzuma ry’umubiri kugira ngo bapime ubuzima bw’umwana wawe muri rusange. Bazapima uburebure n’ibiro by’umwana wawe kandi babigereranye n’umuvuduko w’iterambere ry’abandi bana bo mu kigero cye. Bashobora kandi gukora ibizamini bikurikira:

• Umubare wuzuye w'amaraso (CBC) ufite itandukaniro: Ibi bibara uturemangingo tw'amaraso tw'umwana, cyane cyane uturemangingo tw'umweru twose.
• Ibipimo by'imikorere y'imisemburo: Abaganga bashobora gusesengura ingero z'umwanda w'umwana wawe cyangwa gukora ibizamini byo gufata amashusho nka scan ya computed tomography (CT).
• Gupima amaraso kugira ngo harebwe urugero rwa vitamine.
• Imirasire ya X: Imirasire ya X ishobora gufatwa kugira ngo harebwe niba hari ibibazo by'amagufwa, cyane cyane mu kibuno cy'umwana cyangwa amaguru ye.
• Gupima imiterere y’uturemangingo: Kugira ngo bamenye ihinduka ry’uturemangingo ritera SDS, abaganga basesengura ingero z’amaraso y’umwana, uruhu, umusatsi, cyangwa ingingo ze kugira ngo bemeze niba umwana afite iyo ndwara.

Iyi ndwara ivurwa ite?

Indwara ya Shwachman-Diamond ishobora kugira ingaruka ku mwana wawe mu buryo bwinshi. Urugero, umwana ashobora kudashobora gusya ibiryo bitewe n'ibibazo bya pancreas, ariko umwotsi we ushobora gukora neza. Ibimenyetso bishobora kuba byoroheje cyangwa bikomeye. Abaganga bavura izi mpinduka bakurikije uburemere bw'indwara.

Ku kibazo cyo kubura imikorere y'uturemangingo tw'imisemburo ya pancreas:

Abaganga bashobora kuguha enzymes zo mu kanwa za pancreas cyangwa vitamine zishonga mu mavuta kugira ngo bifashe umubiri w'umwana wawe kwinjiza intungamubiri n'ibinure.

Ku kibazo cy'umusemburo w'amagufwa:

Kubera ko iyi ndwara igira ingaruka ku musemburo w'amagufwa y'umwana, umusemburo w'amagufwa ntukora neutrophils zihagije. Ubusanzwe abaganga ntibavura indwara z'umusemburo w'amagufwa keretse umwana afite ibibazo bikomeye. Ubuvuzi bushobora kuba burimo:

• Gutera amaraso: Byongera urugero rw'uturemangingo tw'amaraso.
• Gutera platelet: Byongera urugero rwa platelet mu maraso kugira ngo bifashe mu bibazo byo kuva amaraso.
• Granulocyte-colony stimulating factor (G-CSF) : Ubu buryo bwo kuvura bwongera umubare wa neutrophils mu turemangingo tw’amaraso tw’umwana.
• Gutera uturemangingo tw’umugongo: Hari abantu barwaye SDS barwara kanseri y’amaraso cyangwa indwara zikomeye z’amaraso. Abaganga bashobora kuvura izi ndwara bakoresheje gutera uturemangingo tw’umugongo.

Ku bibazo by'imitsi y'amagufwa:

Abaganga bakunze gukurikirana ibibazo by'amagufwa biterwa na SDS. Hari abana bashobora gukenera kubagwa amagufwa iyo bafite ibibazo bikomeye.

Ni bande baganga bavura iyi ndwara?

Hakenewe itsinda ry'inzobere kugira ngo bavure indwara ya Shwachman-Diamond. Itsinda ry'ubuvuzi ry'umwana wawe rishobora kuba rigizwe na:

• Abaganga b'abana: Aba baganga bavura abana bavutse, abana, n'abakuze. Umuganga w'abana w'umwana wawe ashobora kukugira inama yo gupima kugira ngo yemeze niba indwara ya SDS ihari.
• Abahanga mu by'imikorere y'umubiri: Aba ni abantu bafite ubumenyi mu bijyanye n'imikorere y'umubiri, ibyo bikaba bigira ingaruka ku mikurire y'umwana.
• Abaganga b'indwara z'amaraso: Aba ni abantu bihariye mu kuvura indwara z'amaraso, harimo n'indwara zigira ingaruka ku turemangingo tw'amaraso tw'umwana.
• Abaganga b'indwara zo mu gifu: Aba baganga bashobora kuvura ibibazo by'igogora ry'umwana wawe.
• Abahanga mu by'imiterere y'umubiri: Indwara ya Shwachman-Diamond ni indwara iterwa n'imiterere y'umubiri. Aba baganga, cyangwa abajyanama mu by'imiterere y'umubiri, bazategura ibizamini by'imiterere y'umubiri kugira ngo bemeze uko umwana wawe amerewe. Bashobora kandi kugupima wowe n'abo mu muryango w'amaraso b'umwana wawe.
• Abaganga b'amagufwa: Niba umwana wawe afite ibibazo by'amagufwa bisaba kubagwa, uzakenera kubonana n'inzobere mu by'amagufwa.

Ese nshobora kwirinda ibi?

Indwara ya Shwachman-Diamond ni indwara umuntu avukana . Niba uzi ko ufite iyo ndwara, ni byiza kuvugana n'inzobere mu by'imiterere y'umubiri. Niba ufite abana bafite iyo ndwara, ushobora gutekereza ku isuzuma ry'imiterere y'umubiri kugira ngo urebe niba abana bawe bafite ihinduka ry'uturemangingo ritera SDS.

Ese indwara ya Shwachman-Diamond syndrome (SDS) ishobora gukira burundu?

Abaganga ntibashobora gukira burundu iyi ndwara. Niba umwana wawe afite iyi ndwara, azakenera ubuvuzi ubuzima bwe bwose.

Bimeze bite kubana n'indwara ya Shwachman-Diamond syndrome (SDS)?

Mu buryo bumwe, indwara ya Shwachman-Diamond ni indwara idakira . Niba umwana wawe afite iyi ndwara, azakenera ibizamini no gupimwa buri gihe.

• Umubare wuzuye w'amaraso (CBC) n'umubare w'uturemangingo tw'umweru mu maraso, umubare w'udukoko twa platelet: Abaganga bashobora gukora ibi bizamini buri mezi atatu kugeza kuri atandatu.
• Gusuzuma umwongo w'amagufwa: Abaganga b'indwara z'amaraso bashobora gukora ibi bizamini rimwe mu mwaka kugeza rimwe mu myaka itatu.
• Gupima amaraso ya vitamine: Abaganga bashobora gupima ingano ya vitamine mu maraso y'umwana kugira ngo barebe niba uburyo bwo kuvura enzymes za pancreas bukora.
• Gupima ubucucike bw'amagufwa: Abaganga bashobora gupima ubucucike bw'amagufwa mbere no mu gihe cy'ubugimbi.
• Imirasire ya X: Imirasire ya X ishobora gukorwa kugira ngo hamenyekane ibibazo biri mu matako no mu mavi y'umwana wawe, cyane cyane mu gihe cyo gukura vuba.
• Isuzuma ry'imikurire: Bamwe mu bana bafite SDS bashobora kugira ibibazo by'imikurire, nko kubura ubushobozi bwo kwita ku bintu (ADD). Abaganga bashobora gusuzuma imikurire buri mezi atandatu kuva bavutse kugeza bafite imyaka 6, n'imikurire buri mezi atandatu.
• Gupima no gusuzuma indwara z’ubwonko: SDS ishobora gutera indwara nko kudasobanukirwa neza (ADD) cyangwa indwara y’iterambere ikwirakwira (PDD). Abaganga bashobora kukugira inama yo gusuzuma buri gihe hagati y’imyaka 6-8, 11-13, na 15-17.

Nafasha nte umwana wanjye guhangana n'iki kibazo?

Abana bafite iyi ndwara bashobora kugira ibibazo bitandukanye by’uburwayi. Bashobora gukenera kuvurwa kugira ngo babafashe kwinjiza intungamubiri n’ibinure. Bashobora kwandura indwara nyinshi. Bashobora kandi kugira ibibazo by’amagufwa bituma basa n’abandi.

Uko ibimenyetso byaba biri kose, abana bafite iyi ndwara bashobora kugira impungenge rusange - ko batandukanye n'abandi . Bashobora gukenera kuvurwa bibabuza kujya ku ishuri no mu bindi bikorwa. Isura yabo ishobora guhinduka. Uko umwana wawe akura, izi mpinduka zishobora gutuma agira uburakari no kurakara. Gusobanukirwa izi mpungenge bishobora gufasha umwana wawe gucunga amarangamutima ye. Hari abana bashobora kungukirwa no kuvugana n'inzobere mu by'ubuzima bwo mu mutwe. Niba uhangayikishijwe n'uko umwana wawe arimo kwihanganira iyi ndwara, saba muganga wawe inama.

Ni ryari ngomba kujya kwa muganga?

Niba umwana wawe afite indwara ya Shwachman-Diamond syndrome, ugomba kugerageza kumenya impinduka mu mubiri w'umwana wawe . Ibimenyetso bya SDS bikunze guhinduka uko igihe kigenda gihita. Hari ubwo izi mpinduka zishobora kuba ibimenyetso by'ingorane zikomeye, harimo na kanseri y'amaraso.

Imibiri y'abana ihora ihinduka uko banyura mu bwana, mu bwana, mu gihe cy'ubugimbi (cyane cyane mu gihe cy'ubugimbi n'ubwangavu), ndetse no mu gihe cy'ubugimbi. Izi mpinduka si ko buri gihe ziba ikimenyetso cy'indwara nshya cyangwa indwara ikomeye kurushaho.

Umwana wawe agira gahunda zo kujya kwa muganga buri gihe.Iyo gahunda isanzwe ni cyo gihe cyiza cyo kubaza ibibazo ku mpinduka zishobora kuba ibimenyetso by'ikibazo gikomeye kurushaho.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Indwara ya Shwachman-Diamond ni indwara idakunze kugaragara. Ushobora no kutamenya ko uyirwaye. Dore bimwe mu bibazo ushobora kubaza muganga wawe:

• Kuki umwana wanjye afite iyi ndwara?
• Ese afite iyi ndwara yoroheje cyangwa ifite imiterere ikomeye?
• Iyi ndwara igira ingaruka zite ku mwana wanjye?
• Ni ubuhe buryo bwo kuvura?
• Ese ibimenyetso by'umwana wanjye bizarushaho kwiyongera?
• Ese abandi bavandimwe b'umwana wanjye bagomba gupimwa imiterere y'uturemangingo?
• Ese njye n'undi mubyeyi w'umwana tugomba gupimwa imiterere y'uturemangingo?
• Nafasha nte umwana wanjye mu kwivuza?

Amaherezo, ikintu cy'ingenzi cyane (Ubutumwa bwo kujyana mu rugo)

Indwara ya Shwachman-Diamond ni indwara idakunze kugaragara, ivukanwa kandi igira ingaruka ku mikurire y'abana, kwandura indwara za bagiteri, ndetse n'indwara zidakira mu magufwa. Nubwo hari abana bafite ibimenyetso byoroheje, abana bose bafite iyi ndwara bazakenera ubuvuzi bw'ubuzima bwabo bwose. Niba umwana wawe afite indwara ya Shwachman-Diamond, ushobora kumva uremerewe no kutamenya neza uko ejo hazaza hazaba hameze. Niba uri muri iki kibazo, bwira abaganga b'umwana wawe impungenge zawe. Barasobanukiwe uko bimeze guhangayikishwa no kwita ku mwana ufite indwara ikomeye, rimwe na rimwe itunguranye. Bashobora gufasha umwana wawe guhangana n'iyi ndwara, ndetse no kumufasha kubaho neza. Kandi bishimira kugufasha gufasha umwana wawe. Ntukigere wumva uri wenyine, kandi usabe ubufasha.

Indwara ya Shwachman -Diamond, SDS, indwara zitari nziza mu buryo bw'uturemangingo, pancreas, umworera w'amagufwa, indwara zitari nziza mu magufwa, indwara z'abana, indwara zo mu bwonko