Ese umwana wawe ahora ananiwe? Ese afite isukari nke mu maraso? Ibi bishobora guterwa n'indwara ya Glycogen Storage Disease (GSD)

Ese umwana wawe ahora yumva ananiwe kandi ananiwe? Ese umwana wawe ahagarara gato ku ruhande iyo abandi bana bo mu kigero kimwe biruka bakina? Cyangwa se umwana wawe ahinduka ibara, ibyuya, no guhinda umushyitsi mu gihe cyo kurya? Nk'umubyeyi, ni ibisanzwe ko wumva ufite ubwoba bwinshi iyo ubonye ibi bintu. Nubwo hari impamvu nyinshi zitera ibimenyetso nk'ibi, uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara ariko ikomeye cyane itera ibimenyetso nk'ibyo. Iyo ni indwara ya Glycogen Storage Disease, cyangwa (GSD) mu magambo ahinnye.

Mu magambo make, indwara yo kubika glycogen (GSD) ni iki?

Reka tubisobanukirwe mu buryo bworoshye. Tekereza ko umubiri wacu umeze nk'imodoka. Imodoka ikenera lisansi kugira ngo ikore. Mu buryo nk'ubwo, umubiri wacu ukeneye imbaraga kugira ngo ukore ibi bintu byose, kwiruka, gusimbuka, gutekereza no gusenga. Isoko nyamukuru y'ingufu mu mubiri wacu ni isukari , ari yo isukari gusa. Iyi sukari tuyikura mu biribwa bya karubohidrati turya, nk'umuceri, umugati, n'ibirayi.

Noneho, iyo turya, umubiri wacu ubona isukari nyinshi kurusha iyo ukeneye kugira ngo ubone ingufu muri ako kanya. None se umubiri wacu w’ubwenge ukora iki? Ubika iyo sukari y’inyongera kugira ngo uzayikoreshe nyuma. Ni nko kubika umuriro w’amashanyarazi kuri telefoni yacu. Ubu buryo bwo kubika isukari bwitwa glycogen . Iyi glycogen ikunze kubikwa mu mwijima no mu mitsi yacu.

Iyo tutariye, cyangwa iyo dukoresheje imbaraga nyinshi, nko mu gihe cy'imyitozo ngororamubiri, umubiri wacu uhindura iyo glycogen yabitswe mo glucose hanyuma ukayikoresha nk'ingufu.

Dore iyi gahunda yose, ni ukuvuga ko guhindura glucose mo glycogen na glycogen igasubiramo glucose, umubiri wacu ukeneye ubwoko bwihariye bwa poroteyine. Tuyita enzymes . Ni nk'aho abakozi bakorera mu ruganda.

Indwara yo kubika Glycogen (GSD) ni indwara ibaho iyo imwe cyangwa nyinshi muri izi enzymes zibuze cyangwa zidakora neza mu mubiri wacu. Ibi bivuze ko umubiri udashobora kubika glycogen neza cyangwa gukoresha glycogen yabitswe mu gihe bikenewe. Ibi bishobora gutera ibibazo nko kugabanuka k'isukari mu maraso (hypoglycemia) no kunanirwa kw'imitsi.

Hari ubwoko bungana iki bwa GSD?

Yego. Nkuko twabiganiriyeho mbere, hari ubwoko bwinshi bwa enzymes zigira uruhare mu mikorere ya glycogen. Rero, hari ubwoko bwinshi bwa GSD bitewe n'ibura rya buri enzymes muri izo. Ubwoko burenga 19 bwamaze kumenyekana kugeza ubu. Nubwo tutazi byinshi kuri zo zose, turasobanukiwe neza ubwoko bumwe na bumwe bw'ingenzi.

Ubwo bwoko bwa GSD bugira ingaruka cyane cyane ku mwijima cyangwa imitsi.Ariko hari ubwoko bumwe na bumwe bushobora guteza ibibazo mu bindi bice by'umubiri. Abaganga bita ubwo bwoko izina rya enzyme ibugize cyangwa umuhanga mu bya siyansi wavumbuye bwa mbere iyo ndwara. Muri ubwo bwoko, bukunze kugaragara cyane ni GSD type I (GSD type I), izwi kandi nka von Gierke disease.

Ni ibihe bimenyetso by'ingenzi bya GSD? Twabimenya dute?

Ibimenyetso bya GSD bishobora gutandukana bitewe n'ubwoko bw'indwara ndetse no hagati y'abantu bafite ubwoko bumwe. Ubwoko bwa GSD bukunze kugaragara cyane, ubwoko bwa I, bukunze gutangira kugaragara umwana afite amezi atatu kugeza kuri ane . Ariko, hari ubwoko bushobora kugaragaza ibimenyetso nyuma cyane, rimwe na rimwe ndetse no mu gihe cy'ubukure.

Ibimenyetso bibiri by'ingenzi kandi bikunze kugaragara ni ibi bikurikira:

1. Isukari nke mu maraso (hypoglycemia)

2. Kunanirwa vuba mugihe ukora imyitozo ngororamubiri cyangwa ukina (kwihanganira imyitozo ngororamubiri)

Reka turebe ibi bimenyetso mu buryo burambuye.

Kuki GSD ikwirakwira? Ese ni indwara ikomoka ku murage?

Yego, GSD ni indwara umuntu avukana burundu. Ibi bivuze ko iyi ndwara iterwa n'impinduka mu ngirabuzimafatizo zikomoka ku babyeyi ku bana.

Inyinshi mu ndwara za GSD ziragwa mu buryo bwa autosomal recessive pattern. Mu magambo make, ibi bivuze ko kugira ngo umwana agire iyi ndwara, ababyeyi bombi bagomba kuragwa gene yahinduwe kubera iyi ndwara. Iyo gene irazwe n'umubyeyi umwe gusa, umwana azaba ari we uyifite kandi ntagaragaze ibimenyetso.

Ariko, ubwoko bumwe na bumwe budasanzwe, nka GSD type IX, buvukanwa mu buryo bwitwa X-linked inheritance . Ibi bivuze ko gene y'iyi ndwara iri kuri chromosome X. Iyo umuhungu avukanye iyi gene, nta kabuza azagira ibimenyetso.

Ni gute muganga asuzuma iyi ndwara neza?

Kubera ko GSD ari indwara idakunze kugaragara, bishobora gufata igihe kugira ngo imenyekane. Muganga azabanza kureba neza ko nta zindi ndwara zisanzwe zibaho. Nyuma yo kubaza umwana wawe ibimenyetso bye no kumusuzuma, muganga akunze kumusaba ko yapimwa inshuro nyinshi.

Ibi bishobora kuba birimo:

• Gupima isukari mu maraso mu buryo bwo kwiyiriza ubusa: Kureba urugero rw'isukari mu maraso mbere yo gufata ifunguro rya mu gitondo. Niba urugero rw'isukari ruri hasi cyane, bishobora kuba ikimenyetso cya GSD.
• Isuzuma ry'amaraso ya Ketone: Iyo umubiri udashobora gukoresha isukari mu gutanga ingufu, utwika ibinure kugira ngo ubone ingufu. Muri icyo gihe, imiti yitwa ketone irakorwa. Urugero rwa Ketone mu maraso rushobora kwiyongera ku bana bafite GSD.
• Kugenzura urugero rwa cholesterol mu maraso (Lipid panel) na aside urique: Izi ngero zikunze kwiyongera ku bana bafite GSD.
• Ibizamini by'imikorere y'umwijima: Ibi bizamini bifasha kumenya niba umwijima wangiritse.
• Ultrasound yo mu nda: Ibi bifasha kumenya niba umwijima wariyongereye (hepatomegaly).
• Gupima imiterere y'uturemangingo: Ubu ni bwo buryo bwiza bwo kwemeza indwara. Hafatwa ikizamini cy'amaraso kugira ngo harebwe impinduka mu turemangingo dukora imisemburo ijyanye na GSD.

Mu bihe bimwe na bimwe, kugira ngo umuganga amenye neza 100% ko indwara ihari, ashobora kukugira inama yo gufata agace gato k'umubiri wo mu mwijima cyangwa mu mitsi kugira ngo bakore isuzuma (biopsy) .

Ni ubuhe buryo bwo kuvura ibi? Ese birakira burundu?

Ikibabaje ni uko nta muti uhari wa GSD. Ariko ntugire ikibazo.Hari uburyo bwiza cyane bwo kuvura bushobora kugenzura ibimenyetso no gufasha umwana kubaho ubuzima busanzwe. Uburyo bwo kuvura buratandukanye bitewe n'ubwoko bw'indwara.

Intego nyamukuru ni ukwirinda ko urugero rw'isukari mu maraso rugabanuka mu buryo buteye ubwoba no kugikomeza ku rugero ruhamye.

Dore bumwe mu buryo bwo kuvura:

1. Gaburira kenshi: Cyane cyane ku bana bato, kugaburira buri masaha make ni ukugerageza kugumana igipimo cy'isukari mu maraso gihamye.

2. Gukoresha igikoma cy'ibigori kitatetse: Ubu ni uburyo bw'ingenzi cyane bwo kuvura bukoreshwa mu gucunga GSD. Igikoma cy'ibigori ni karubohidrati ikomeye igora umubiri wacu gusya. Kubwibyo, iyo igikoma cy'ibigori gito gishongeshejwe mu mazi kikanyobwa, gisohora glucose buhoro buhoro mu maraso. Ibi bishobora gutuma igipimo cy'isukari mu maraso kiguma gihamye mu gihe cy'amasaha menshi. Ubu buryo burafasha cyane mu kwirinda isukari nke mu maraso cyane cyane mu gihe cy'ijoro .

3. Vura vuba hypoglycemia: Ibimenyetso bya hypoglycemia bikimara kugaragara, ugomba gutanga ibinini bya glucose cyangwa ikinyobwa kirimo isukari kugira ngo wongere vuba urugero rw'isukari mu maraso. Gutinda ibi bishobora gutera indwara zikomeye nko gucika intege.

4. Kuvura izindi ngorane: Ku ndwara nka cholesterol nyinshi (hyperlipidemia) n'urugero ruri hejuru rwa aside urique (hyperuricemia), muganga azaguha imiti ikenewe (urugero: allopurinol, statins).

5. Ubuvuzi bwo Gusimbuza Enzyme (ERT): Ku bwoko bumwe na bumwe bwa GSD, nka Pompe disease, hari uburyo bwo kuvura busimbura enzyme yabuze binyuze mu gutera IV. Ubu buryo buracyari kwigwaho.

6. Gutera umwijima: Mu gihe umwijima wangiritse cyane bitewe na GSD, gutera umwijima bishobora kuba ngombwa nk'uburyo bwa nyuma.

Ni izihe ngorane zishobora kuvuka iyo umuntu abayeho n'iki kibazo?

Iyo indwara idasuzumwe hakiri kare kandi igafatwa neza, hashobora kubaho ingorane zitandukanye. Izi nazo ziratandukanye bitewe n'ubwoko bw'indwara. Urugero, GSD type I itavuwe ishobora guteza ibibazo nka:

• Kugabanuka kw'amagufwa no kuvunika byoroshye (osteoporosis)
• Gutinda mu bugimbi
• Gute
• Indwara y'impyiko
• Ibibyimba by'umwijima bitari kanseri (adenomas y'umwijima)
• Indwara y'intanga ngabo (PCOS)
• Isukari nke mu maraso ikunze kugabanuka ishobora kugira ingaruka ku mikorere y'ubwonko.

Ariko ibuka ko inyinshi muri izi ngorane zishobora kwirindwa iyo umuntu asuzumwe hakiri kare, akavurwa neza, kandi agafatwa neza.

Imyaka yo kubaho y'umuntu ufite GSD ni iyihe?

Ibi biterwa n'ubwoko bw'indwara, uburyo isanzwe ifatwa hakiri kare, n'uburyo ivurwa neza. Hari ubwoko bukomeye bushobora kwica umuntu akiri umwana muto. Ariko mu bwoko bwinshi, iyo habayeho kuvurwa neza, ubuzima busanzwe burashoboka. Muganga wawe azashobora kuguha ibisobanuro byiza ku ndwara y'umwana wawe.

Ni ryari twagombye kubonana na muganga?

Niba umwana wawe ahora agaragaza ibimenyetso by'isukari nke mu maraso twavuze mbere (gutitira, kubira ibyuya, kumera nk'umuhondo), cyangwa niba wumva umwana wawe adakura neza cyangwa afite imitsi idakomeye, menya neza ko wagiye kwa muganga w'abana.

Kubera ko GSD ari indwara igoye, ni ngombwa gushaka ubuvuzi kwa muganga ufite ubumenyi bwihariye muri uru rwego. Itsinda ry’abaganga b’umwana wawe rizagufasha mu buryo bwose bushoboka muri uru rugendo.