Asidemia ya Propionic ni indwara idakunze kugaragara kandi ikomeye ifata ingingo nyinshi z'umubiri, harimo ubwonko n'umutima. Akenshi iboneka nyuma gato yo kuvuka. Ifata abantu bari hagati ya 3.000 na 30.000 muri Leta Zunze Ubumwe za Amerika.
Bitewe n'ubusembwa bw'uturemangingo, umubiri ntushobora gutunganya neza ibice bimwe na bimwe bya poroteyine n'ibinure. Ibi amaherezo biganisha ku bimenyetso by'iyi ndwara. Iyo idasuzumwe kandi igavurwa ku gihe, ishobora gutera koma ndetse n'urupfu.
Iyi nkuru isobanura ibimenyetso bya asideemia ya propionic n'uburyo bwo kuyisuzuma. Ivuga ku kuvura iyi ndwara, ibindi bibazo by'ubuvuzi bifitanye isano nayo, ndetse n'amakuru rusange ku mibereho y'umuntu ufite asideemia ya propionic.
Kenshi na kenshi, ibimenyetso bya asideemia ya propionic bigaragara mu minsi mike nyuma yo kuvuka. Abana bavuka ari bazima ariko vuba bagaragaza ibimenyetso nko kurya nabi no kugabanuka k'uburyo babyitwaramo. Iyo bitarasuzumwe ngo bivurwe, hari ibindi bimenyetso bishobora kugaragara.
Ibimenyetso bishobora kugaragara mu bwana, mu gihe cy'ingimbi cyangwa mu bwana. Propionic acidemia ishobora no gutera ibibazo bikomeye, uko byagenda kose.
Asidemia ya Propiyonike ni "ikosa ryo mu mikorere y'umubiri". Iri ni itsinda ry'indwara zidasanzwe ziterwa n'ubusembwa butandukanye bwa genetiki. Zishobora gutera ibibazo mu mikorere y'umubiri, inzira intungamubiri mu biribwa zihindukamo ingufu.
Ihinduka ry’umubiri ribaho binyuze mu buryo butandukanye bw’imikorere y’ibinyabutabire igoye kandi ihujwe neza, bityo ibibazo bya za gene nyinshi zitandukanye bishobora gutuma habaho ihungabana ry’imikorere isanzwe y’umubiri.
Propionic acidemia nayo iri mu itsinda ry’izi ndwara ryitwa organic aciduria. Izi ndwara za genetike zituruka ku kutumvikana kwa metabolism y’ubwoko bumwe na bumwe bwa aside amine (ibyubaka poroteyine) hamwe n’ibice bimwe na bimwe bya karubohidrati n’ibinure.
Kubera iyo mpamvu, urugero rwa aside zimwe na zimwe zisanzwe ziba mu mubiri rushobora gutangira kwiyongera ku rugero rutari rwiza.
Inenge mu misemburo itandukanye zitera ubwoko butandukanye bwa aside uria. Urugero, indwara ya maple syrup ni indi ndwara idakunze kugaragara muri iki cyiciro. Yahawe izina ryayo kubera impumuro yayo idasanzwe.
Impumuro y'amafi izwi kandi nka propionic acidemia odor kandi yanagaragaye ko ari imwe mu miti ye yo kuvura ubuzima bwe bwose.
Asidemia ya Propionic iterwa n'inenge iri muri imwe muri jeni ebyiri: PCCA cyangwa PCCB. Izi jeni ebyiri zigize ibice bibiri bya enzyme yitwa propionyl-CoA carboxylase (PCC). Iyo hatabayeho iyi enzyme, umubiri ntushobora gutunganya neza aside amine zimwe na zimwe hamwe n'ibice bimwe na bimwe by'ibinure na cholesterol.
Ntabwo ari ubwa mbere. Abashakashatsi bari bamaze kumenya ubwoko bwa PCCA na PCCB, ariko uko siyansi yagendaga itera imbere, bamenye ko impinduka zigera kuri 70 mu ngirabuzimafatizo zishobora kugira uruhare. Uburyo bwo kuvura bushobora gutandukana bitewe n’imiterere y’ibinyabuzima, kandi inyigo zimwe na zimwe zo kuvura ibinyabuzima zagaragaje umusaruro mwiza ku buvuzi bw’ejo hazaza. Kuri ubu, hibandwa ku buryo busanzwe bwo kuvura iyi ndwara.
Ibindi bimenyetso bya asideemia ya propionic bishobora kuba birimo ibibazo byo gukora ingufu bitewe n'imikorere mibi y'umubiri.
Acidemia ya Propionic ni indwara iterwa na autosomal recessive gene. Ibi bivuze ko umuntu agomba kuragwa gene yanduye n'ababyeyi be kugira ngo agire iyo ndwara.
Iyo abashakanye bafite umwana wavutse afite aside demie ya propionic, hari amahirwe angana na 25% ko umwana utaha nawe azarwara iyi ndwara. Ni ngombwa kandi gusuzuma abavandimwe basanzwe bashobora kugaragaraho ibimenyetso nyuma. Gusuzuma no kuvurwa hakiri kare bishobora gufasha gukumira ingorane z'igihe kirekire z'iyi ndwara.
Kuganira n'umujyanama mu by'imiterere y'umubiri bishobora gufasha imiryango myinshi. Ibi bizagufasha gusobanukirwa ingaruka zishobora guterwa n'ikibazo cyawe. Gupima mbere yo kubyara no guhitamo intanga ngabo nabyo bishobora kuba amahitamo.
Gusuzuma asideemia ya propionic bisaba gusuzuma amateka n'isuzuma ryimbitse ry'umubiri, ndetse no gupima muri laboratwari. Ni ngombwa gusuzuma vuba bishoboka, kuko abarwaye akenshi baba barwaye cyane.
Indwara nyinshi zitandukanye zishobora gutera ibimenyetso bikomeye by’imitsi n’ibindi bimenyetso bigaragara muri asideemia ya propionic, harimo n’izindi ndwara zidasanzwe zo mu ngirabuzimafatizo. Abahanga mu by’ubuzima bagomba gukumira izindi ndwara zishobora kugaragara binyuze mu kugabanya impamvu yihariye.
Abantu bafite asideemia ya propionic bashobora kugira ibitagenda neza mu bipimo byihariye. Urugero, abantu bafite iyi ndwara baba bafite urugero rwinshi rw'ibintu byitwa propionylcarnitine.
Hashingiwe kuri ibi bizamini bya mbere, abaganga bakora kugira ngo bemeze ko indwara yanduye. Ibi bishobora kuba birimo ibizamini byo gusuzuma uburyo enzyme ya PCC ikora neza. Gupima imiterere y’uturemangingo twa PCCA na PCCB nabyo bishobora gukoreshwa kugira ngo bisobanure neza ikibazo.
Hari igihe impinja zibanza gupimwa hashingiwe ku bisubizo by’ibizamini bisanzwe byo gupima abana bato. Ariko, si leta zose cyangwa ibihugu byose ku isi bipima iyi ndwara. Byongeye kandi, impinja zishobora kugaragaza ibimenyetso mbere y’uko ibisubizo by’ibi bizamini biboneka.
Indwara zikomeye ziterwa na asideemia ya propionic ni ikibazo cyihutirwa cy’ubuvuzi. Iyo umuntu atabonye ubufasha, ashobora gupfa muri ibi bihe. Bishobora kubaho mbere yo kumenyekana bwa mbere cyangwa mu bihe by’imihangayiko cyangwa indwara. Aba bantu bakeneye ubufasha bukomeye mu bitaro.
Abantu bafite asideemia ya propionic bahura n'ibibazo byinshi kandi akenshi bagira izindi ndwara. Urugero, indwara y'umutima itera mu bwana (imyaka 7) ni yo itera impfu nyinshi. Ariko inkuru yose ni umwihariko. Hamwe n'ubuvuzi bwiza, abantu benshi bafite asideemia ya propionic bashobora kubaho ubuzima bwuzuye kandi burambye. Itsinda ry'inzobere mu ndwara zidasanzwe z'uturemangingo n'abashinzwe ubuzima bashobora kubafasha.
Asideemia ya Propionic ikunze gutera ikibazo cy’ubuzima mu minsi mike ya mbere y’ubuzima gishobora kumera nk’aho kirenze urugero. Uburyo bwo gutunganya ibiri kuba bushobora gufata igihe. Bisaba kwitabwaho buri gihe, ariko abantu benshi bafite asideemia ya propionic bakomeza kubaho ubuzima bwuzuye. Ntugatinye kuvugana n'inshuti, umuryango, n'abakozi bo kwa muganga kugira ngo ubafashe.
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Umwanditsi: Ruth Jessen Hickman, MD Ruth Jessen Hickman, MD, ni umwanditsi wigenga w’ubuvuzi n’ubuzima akaba n’umwanditsi w’ibitabo byasohotse.