Ese umubiri wawe ntushobora kubika no gukoresha isukari neza? Reka tuvuge ku ndwara yo kubika glycogen (GSD)!

Ese wowe cyangwa umwana wawe muhora munaniwe? Cyangwa rimwe na rimwe mukumva mukonje, mufite ibyuya, kandi mukagira isereri? Ese mugenda cyangwa mukina munanirwa vuba? Hari igihe ibi bishobora guterwa n'ikibazo gito mu buryo umubiri wacu ugenzura ingufu, ni ukuvuga uburyo ukoresha isukari. Uyu munsi tugiye kuvuga ku ndwara idasanzwe buri wese agomba kumenya. Iyo ni indwara yo kubika glycogen , izwi kandi mu baganga nka `(Glycogen Storage Disease)` cyangwa `(GSD)` mu magambo ahinnye.

Mu magambo make, iyi ""(GSD)`` isobanura iki?

Noneho reka turebe icyo iyi `(GSD)` ari cyo. Mu magambo make, ni indwara aho umubiri wacu udashobora gukoresha cyangwa kubika glycogen neza . Iyi ni ubwoko bw'indwara ya metabolic ivukanwa, bivuze ko ihererekanywa kuva ku mubyeyi kugera ku mwana.

Noneho ushobora kuba wibaza icyo glycogen ari cyo. Glycogen ni uburyo umubiri wacu ubikamo glucose, cyangwa isukari, mu byo turya. Nkuko ubizi, glucose ni yo mashini nyamukuru iha umubiri wacu ingufu. Iyi glucose tuyikura mu byo turya birimo karubohidrati. Umubiri ntukenera iyi glucose yose icyarimwe. Bityo, umubiri ubika iyi glucose irenze mu mwijima no mu mitsi nka glycogen. Ishobora gukoreshwa nyuma iyo dukeneye ingufu.

Uburyo umubiri wacu ukora glycogen muri glucose bwitwa glycogenesis . Mu buryo nk'ubwo, iyo umubiri ukeneye ingufu nanone, inzira iyi glycogen yabitswe ivunjwamo ikagarurwamo glucose yitwa glycogenolysis . Enzymes zitandukanye zifasha muri izi nzira zombi.

Indwara yo kubika glycogen (GSD) ibaho iyo imwe cyangwa nyinshi muri izi enzymes zibuze cyangwa zidakora neza. Ibi bivuze ko umubiri udashobora gukoresha glycogen yabitswe kugira ngo ubone ingufu cyangwa ngo ukomeze urugero rw'isukari mu maraso neza. Ibi bishobora gutera ibibazo byinshi, birimo kugabanuka k'isukari mu maraso kenshi (hypoglycemia) , kwangirika k'umwijima, no kunanirwa kw'imitsi.

Ese hari ubwoko butandukanye bwa `(GSD)`?

Yego, kubera ko imibiri yacu ikoresha imisemburo itandukanye mu gutunganya glycogen, hari ubwoko butandukanye bwa GSD - nibura 19! Abaganga bazi byinshi ku bwoko bumwe na bumwe, ariko baracyamenya ubw'ubundi. GSD ikunze kugira ingaruka ku mwijima wawe cyangwa imitsi. Ariko ubwoko bumwe na bumwe bushobora guteza ibibazo no mu bindi bice by'umubiri wawe.

Buri bwoko bwa GSD buterwa no kubura enzyme runaka igira uruhare mu kubika cyangwa gusenyuka kwa glycogen. Ibi bivuze ko enzyme iba ibuze cyangwa ikaba nke. Abaganga rimwe na rimwe bita ubwo bwoko bw'ibi bisobanuro by'izina rya enzyme ibuze cyangwa umuhanga mu bya siyansi wavumbuye GSD bwa mbere.

Indwara yo kubika glycogen ikunze kugaragara gute?

Mu by’ukuri, indwara yo kubika glycogen ni indwara idakunze kugaragara . ``(GSD)``` ubwoko bwa I``(GSD ubwoko bwa I (von Gierke disease))``, ari na bwo bwoko bukunze kugaragara cyane, buboneka ku mwana umwe mu bavutse 100.000. Bityo rero urabona ukuntu ibi bidakunze kugaragara.

Ni ibihe bimenyetso bya GSD?

Ibimenyetso bya GSD bishobora gutandukana bitewe n'umuntu ku wundi. Ibi bivuze ko n'abantu babiri bafite ubwoko bumwe bwa GSD bashobora kugira ibimenyetso bitandukanye. GSD Ubwoko bwa I (ubwoko bukunze kugaragara cyane) bukunze gutangira kugaragaza ibimenyetso iyo umwana afite amezi atatu kugeza kuri ane . Ariko, bumwe mu bwoko bw'abandi bushobora kugaragaza ibimenyetso nyuma, rimwe na rimwe ndetse no mu gihe cy'ubwangavu.

Ibimenyetso bibiri by'ingenzi bigaragara muri iyi ndwara ni isukari nke mu maraso (hypoglycemia) cyangwa umunaniro mu gihe cy'imyitozo ngororamubiri, nko kwiruka cyangwa gusimbuka (kwihanganira imyitozo ngororamubiri).

Isukari nke mu maraso (hypoglycemia) ni igihe urugero rw'isukari mu maraso yawe rugabanuka ruri munsi ya 70 mg / dL. Iyo ibi bibaye, ushobora kugira ibimenyetso nk'ibi:

• Kumva umubiri wawe urimo kunyeganyega.
• Kubira ibyuya no kumva bikonje.
• Kuzungera , kumva umutwe uzunguruka.
• Kumva ufite intege nke kandi nta buzima ufite.
• Umutima utera cyane.
• Hari igihe inzara idashobora kwihanganira itera, kandi bamwe babyita "hyperphagia".
• Kugorwa no gutekereza, kudashobora kwibanda ku byo umuntu atekereza.
• Kumva mfite impungenge n'uburakari.
• Uruhu rurahinduka umutuku (umutuku).
• Hari igihe, iyo isukari mu maraso igabanutse cyane , umuntu ashobora gufatwa n'indwara zo mu mutwe.

Tekereza umwana wawe aramutse akinnye neza maze agatangira guhinda umushyitsi, kubira ibyuya, ndetse akananirwa no kuvuga? Wakumva uteye ubwoba bungana iki muri ako kanya? Ni cyo hypoglycemia ari cyo.

Uretse ibi, hari n'ibindi bintu nka `(GSD)` bishobora kugaragara:

• Kubabara imitsi cyangwa intege nke z'imitsi.
• Gukura buhoro no kwiyongera ibiro nabi mu bana.
• Kwaguka k'umwijima (hepatomegaly).
• Imitsi idafite umuvuduko mwinshi.
• Kolesteroli yiyongera mu maraso (hyperlipidemia).

Ni iki gitera GSD?

Impamvu nyamukuru itera GSD ni impinduka za genetiki zikomoka ku nkomoko y'uturemangingo . Izi mpinduka za genetiki zigira ingaruka ku mikorere ya enzymes zikenewe kugira ngo glycogen ibikwe kandi ikoreshwe. Umwana akura izi mpinduka za genetiki kuri nyina na se.

Inyinshi mu ndwara za GSD zifite uburyo bwo kubyara umwana buzwi nka autosomal recessive inheritance pattern. Ibi bivuze ko kugira ngo umwana agire iyi ndwara, itandukaniro ry’uturemangingo rigomba kuragwa na nyina na se.

Ariko, hari ubwoko bumwe na bumwe, nka GSD Group IX, bufite X-linked inheritance . Ibi bivuze ko ihinduka ry’uturemangingo riri kuri chromosome X yawe. Niba umugabo (ufite chromosome X imwe gusa) afite iyi mpinduka, azarwara iyi ndwara. Iyo umugore afite iyi mpinduka kuri chromosome X imwe n’indi chromosome X ikaba nzima, ubusanzwe nta bimenyetso azagaragaza, ariko ashobora kuba ari we utwara iyi ndwara.

Namenya nte ko mfite `(GSD)`?

Kugira ngo amenye neza niba umwana wawe afite GSD, muganga w'umwana wawe ashobora gutegeka ko apimwa inshuro nyinshi. Kubera ko GSD ari indwara idakunze kugaragara, bishobora gufata igihe kugira ngo hamenyekane izindi ndwara no kumenya neza ubwoko bwa GSD afite. Ibi bizamini bishobora kuba birimo:

• Isuzuma ry'isukari mu maraso ritabanje kwiyiriza ubusa: Niba igipimo cy'isukari mu maraso yawe kiri hasi nyuma yo kutarya ikintu na kimwe mu gitondo, bishobora kuba ikimenyetso cy'indwara ya GSD.
• Isuzuma ry'amaraso ya Ketone: Iyo umubiri udashobora gukoresha isukari, utwika ibinure kugira ngo ubone ingufu. Ibi bitanga ibintu byitwa ketone. Abana barwaye GSD bakunze kugira ikibazo cya ketosis (ubwiyongere bwa ketone mu maraso).
• Itsinda ry'ibanze rya metabolism: Ibi bishobora gutanga igitekerezo cy'ubuzima bw'umwana muri rusange.
• Igipimo cy'ibinure: Ibi kandi ni ingenzi kuko cholesterol nyinshi (hyperlipidemia) ikunze kugaragara muri GSD.
• Ibizamini by'imikorere y'umwijima: Ibi bishobora kugenzura ubuzima bw'umwijima w'umwana wawe. Iyo hari ibitagenda neza, bishobora kuba ikimenyetso cya GSD.
• Gusesengura inkari: Gusesengura inkari bishobora kugenzura urugero rwa creatinine (bigaragaza imikorere y'impyiko) n'urugero rwa aside urike. GSD ikunze kugaragaza urugero rwinshi rwa aside urike (hyperuricemia) .
• Ultrasound yo mu nda: Ibi bishobora kugenzura niba umwijima w'umwana wariyongereye.
• Gupima imiterere y'uturemangingo: Ibi bireba ibibazo bya gene bifitanye isano na enzymes zitandukanye.

Nubwo hari ibizamini byihariye bya genetiki kugira ngo hamenyekane ubwoko bwinshi bwa GSD, hari igihe muganga w'umwana wawe ashobora kukugira inama yo kumupima , bigasaba gufata agace gato k'umubiri mu mwijima cyangwa mu mitsi, kugira ngo byemezwe ko ari indwara.

Indwara ya GSD ivurwa ite?

Ikibabaje ni uko nta muti uhari wo kuvura indwara yo kubika glycogen. Ubuvuzi bugamije ahanini kugenzura ibimenyetso. Uburyo bwo kuvura buratandukanye bitewe n'ubwoko bwa GSD ufite. Dore ingero zimwe na zimwe z'uburyo bwo kuvura:

• Kwirinda isukari nkeya mu maraso: Gutanga ibinyampeke bitatetse cyangwa inyongeramusaruro isa n’iyi ku gihe gikwiye no ku rugero rukwiye bishobora gufasha kugumana urugero rw’isukari mu maraso rudahinduka. Igitagangurirwa cy’ibigori ni karubohidrati igoye umubiri kuyisya. Kubwibyo, ishobora kugenzura urugero rw’isukari mu maraso igihe kirekire kuruta karubohidrati ziboneka mu biribwa bisanzwe. Ubu hari ikindi kintu cyiza kurushaho gicuruzwa kiguma mu mubiri igihe kirekire. Ibi bizakuraho kandi gukenera kubyuka mu gicuku kugira ngo ugaburire imbwa yawe.
• Kuvura isukari nke mu maraso: Niba isukari yawe mu maraso igabanutse bitewe na GSD , ugomba kuyivura vuba ukoresheje karubohidrati. Bitabaye ibyo, hypoglycemia ishobora kwiyongera igatera ingorane nko gukubita no kugwa muri koma.
• Kugenzura cholesterol nyinshi: Ubwoko bw'imiti yitwa statins bufasha mu kugenzura urugero rwa cholesterol.
• Kugenzura urugero ruri hejuru rw'aside urike: Umuti wa allopurinol ufasha kugabanya ikorwa rya aside urike mu mubiri.

Ubwoko bumwe na bumwe bwa GSD (urugero, GSD type II) bushobora kuvurwa hakoreshejwe uburyo bwo gusimbuza enzymes (ERT) . Ubusanzwe ibi bitangwa nk'inyongera mu miyoboro ya IV. Ubushakashatsi buracyakomeje kugira ngo harebwe niba ERT ishobora gukoreshwa ku bundi bwoko bwa GSD.

Iyo umwijima wangiritse cyane bitewe na GSD, bishobora kuba ngombwa ko uterwa umwijima .

Ese indwara yo kubika glycogen ishobora kwirindwa?

Kubera ko indwara zo kubika glycogen ari indwara zikomoka ku ngirabuzimafatizo (urubyaro), nta kintu na kimwe twakora ngo tuzirinde.

Niba hari umuntu wo mu muryango wawe ufite GSD, kandi ukaba urimo gutekereza kubyara umwana, ni byiza gushaka inama ku bijyanye n’imiterere y’umubiri kugira ngo umenye niba nawe uri umuntu ufite iyi ndwara.

Ubuzima bw'umuntu urwaye `(GSD)` bumeze bute?

Mu bwoko bwinshi bwa GSD, gusuzuma indwara hakiri kare no kuyifata neza bishobora gutuma umurwayi arushaho kuba mwiza. Ariko, hari ubwoko bwa GSD bugoye kuyifata. Muganga wawe ashobora kuguha igitekerezo cyiza cy'icyo wakwitega.

Ni izihe ngorane zishobora guterwa na GSD?

GSD ishobora gutera ingorane zitandukanye. Biterwa na:

• Ku bwoko bwa `(GSD)`.
• Iyo indwara itinze kumenyekana.
• Iyo ndwara, nidafatwa neza, izakomeza.

Urugero, zimwe mu ngorane zishobora guterwa n'icyiciro cya mbere cya ``(GSD)`` kitavuwe ni izi:

• Kugabanuka k'ubucucike bw'amagufwa, kuvunika byoroshye, no kuvunika kw'amagufwa .
• Gutinda mu bugimbi.
• Gute.
• Indwara y'impyiko.
• Umuvuduko ukabije w'amaraso mu bihaha.
• Ibibyimba by'umwijima bitari kanseri (adenomas z'umwijima).
• Abagore bafite indwara ya polycystic ovary syndrome (PCOS).
• Kubyimba kwa pancreatitis (Pancreatite).
• Isukari nke mu maraso ikunze kugabanuka ishobora kugira ingaruka ku mikorere y'ubwonko.

Ni iyihe mirango y'ubuzima bw'umuntu ufite `(GSD)`?

Imyaka umuntu abayeho arwaye indwara yo kubika glycogen (GSD) iratandukanye bitewe n'ubwoko bwayo, uburyo yamenyekanye kare, n'uburyo ifatwa neza. Hari ubwoko bushobora kwica umuntu akiri umwana, mu gihe ubundi bushobora gutuma aramba. Muganga wawe ashobora kuguha inama nziza kuri ibi.

Ni ryari ngomba kujya kwa muganga?

Niba wowe cyangwa umwana wawe mufite intege nke z'imitsi cyangwa ibimenyetso bidashira by'isukari nke mu maraso, hita ubonana na muganga.

Indwara zo kubika glycogen ni indwara zidakunze kugaragara kandi zigoye. Rero, niba bishoboka, ni byiza gushaka umuganga uzi neza iyi ndwara n'uburyo bwo kuyivura. Itsinda ry'abaganga b'umwana wawe rizaba riri kumwe nawe mu ntambwe zose kugira ngo rigufashe guhitamo uburyo bwiza bwo kuvura.

Ubutumwa bwo kujyana mu rugo:

Rero, ndizera ko ubu usobanukiwe neza icyo twavuzeho, Glycogen Storage Disease (GSD). Nubwo iyi ari ingingo igoye, ni ngombwa cyane kwibuka ingingo z'ingenzi.

Wibuke: GSD ni itsinda ry'indwara zidasanzwe, zivukanwa zituma umubiri udakoresha neza glycogen (ububiko bw'isukari bw'umubiri wacu).

• Ibimenyetso by'ingenzi: Isukari igabanuka mu maraso kenshi (hypoglycemia) no kunanirwa cyane mu gihe cy'imyitozo ngororamubiri.
• Impamvu: Kubura kwa enzymes guterwa n'impinduka mu ngirabuzimafatizo.
• Gusuzuma: Gupima amaraso, gupima inkari, gukoresha ikoranabuhanga rya ultrasound, gupima imiterere y'umubiri, ndetse wenda no gupima umubiri.
• Uburyo bwo kuvura: Kugenzura ibimenyetso ni ingenzi. Indyo (cyane cyane ibinyampeke by'ingano), imiti nibiba ngombwa, hamwe n'ubuvuzi bwo gusimbuza enzymes (ERT) kuri bimwe mu bwoko.
• Igikuru cyane: Gusuzuma indwara hakiri kare no kuyifata neza bishobora kugufasha kubaho ubuzima busanzwe. Niba ufite ibimenyetso, ntutinde gushaka inama kwa muganga.

Twizeye ko aya makuru azaba ingirakamaro kuri wewe. Komeza ugire ubuzima bwiza!