Ese uzi indwara ya Koolen-de Vries? Reka tubiganireho!

Ese umwana wawe aratinda gato kurusha abandi bana mu kwicara, kuvuga, cyangwa kugenda? Ni ibisanzwe ko ababyeyi bumva bafite impungenge kandi bagahangayika iyo babonye ibintu nk'ibi. Ariko si ko gutinda kose ari ikibazo gikomeye. Ariko, ni ngombwa kumenya indwara zimwe na zimwe zidasanzwe ziterwa n'ibintu bigize imiterere y'umubiri. Urugero, Koolen-de Vries Syndrome ni indwara tutajya twumva buri munsi, ariko ni ngombwa kuyimenya. Reka tubiganireho mu buryo bworoshye, mu buryo ushobora gusobanukirwa.

Indwara ya Koolen-de Vries ni iki?

Mu magambo make, Kuhlman-de Vries Syndrome (KdVS) ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Ifitanye isano na chromosomes mu mubiri wacu. Mu by'ukuri, iterwa n'impinduka nto mu miterere ya chromosomes yacu nimero 17. Iyi ndwara ishobora gutera gutinda mu mikurire , ubumuga bwo mu mutwe, ndetse n'imiterere imwe n'imwe yo mu maso .

Ushobora kubanza kubona iyi ndwara iyo umwana wawe yicaye wenyine atinze kurusha abandi bana bo mu kigero cye, akavuga amagambo ye ya mbere nyuma, cyangwa agafata igihe kirekire kugira ngo atere intambwe ye ya mbere. Irindi zina ry'iyi ndwara ni `17q21.31 microdeletion syndrome`. Nubwo izina rishobora kumvikana nk'irigoye, reka turebe neza icyo risobanura.

Igikuru ni uko nubwo ibi bimenyetso bishobora gutandukana bitewe n'umwana, ni ikintu gikunze kugaragara muri iki kibazo ko aba bana akenshi baba bishimye kandi bafite inshuti . Ibyo ni byiza cyane. Ariko, bazakenera ubufasha bw'abaganga n'ubufasha mu buzima bwabo bwose kugira ngo bashobore guhangana n'ibindi bimenyetso.

Ni ibihe bimenyetso bishobora kugaragara muri iki kibazo?

Nubwo ibimenyetso bigaragara ku bana barwaye indwara ya Kuhlman-de Vries (KdVS) bishobora gutandukana bitewe n'umuntu ku wundi, hari ibintu bimwe na bimwe bikunze kugaragara.

Ibimenyetso bikunze kugaragara:

• Gutinda mu mikurire: Iki ni ikimenyetso gikomeye. Ibi bivuze ko ibintu nko gukurura, kwicara, kugenda no kuvuga bishobora guteba kurusha abandi bana bo mu kigero kimwe.
• Ubumuga bwo mu mutwe bworoheje kugeza ku buringanire: Bushobora gukenera igihe n'ubufasha birambuye kugira ngo umuntu yige kandi asobanukirwe ibintu bishya.
• Ijwi ry'imitsi ridafite imbaraga (hypotonia): Mu by'ukuri, imitsi yo mu mubiri ishobora kugaragara nk'aho irekuye gato kandi idafite imbaraga. Ibi bishobora gutuma bigorana gukora ingendo zimwe na zimwe.
• Indwara yo kuruka cyclic: Hari abana bashobora kuruka iminsi myinshi nta mpamvu igaragara ihari. Ibi bishobora kugaruka rimwe na rimwe.

Izindi bimenyetso bamwe mu bana bashobora kugira:

Uretse ibi bimenyetso by'ingenzi, bamwe mu bana bashobora guhura n'ibindi bibazo.

• Kugorwa no konsa ku bana bato: Kugorwa no konka no kumira ibiryo, cyane cyane mu gihe cy'ubuto, bishobora kubaho.
• Umutima, uruhago cyangwa impyiko: Hari abana bashobora kuvukana inenge zimwe na zimwe mu mutima, uruhago cyangwa impyiko.
• Scoliosis: Indwara aho umugongo ugorama ugana ku ruhande rumwe.
• Indwara z'igicuri/ Indwara zo mu mutwe : Hashobora kubaho indwara zisa n'iziterwa n'igicuri.
• Amasaya atamanuka: Indwara aho amasaya y'abahungu adamanuka neza ava mu nda ajya mu gituba.

Imyitwarire n'imico y'umwana

Abana barwaye indwara ya Koolen-de Vries bakunze kubonwa nk'abishimye cyane kandi b'inshuti . Bakunda gusabana cyane. Ariko, rimwe na rimwe bashobora no kugira indwara nko kudasobanukirwa neza/kubura imbaraga nyinshi (ADHD) cyangwa indwara z'imitsi n'imyitwarire nk'indwara ya Autism Spectrum Disorder .

Ibintu byihariye bishobora kugaragara ku maso y'abana bafite indwara ya Koolen-de Vries

Abana bafite iyi ndwara bashobora kuba bafite imiterere yihariye mu maso. Ariko ibuka ko kuba ufite imwe cyangwa ebyiri muri izi myitwarire bitavuze ko ufite iyi ndwara. Ibi bigomba kwemezwa na muganga.

• Isura ndende
• Agahanga kanini
• Izuru rimeze nk'iry'ipera
• Ijisho rimanuka (ptosis)
• Amatwi manini, agaragara
• Ishusho y'inyuma y'amaso igaragara hejuru
• Uruhu rutwikiriye impande z'imbere z'amaso (epicanthal folds)

Ibi bimenyetso ntibigaragara kimwe kuri buri mwana. Hari abana bashobora kugira byinshi muri ibi bimenyetso, abandi bakaba bafite bike.

Niki gitera Syndrome ya Koolen-de Vries?

Noneho reka turebe icyateye iyi ndwara. Koolen-de Vries Syndrome iterwa no guhinduka cyangwa gusiba burundu kwa gene `KANSL1` iri kuri chromosome 17.

Tekereza nawe, buri karemangingo mu mubiri wacu gafite chromosomes. Izi chromosomes zitwara genes zigena byose kuva ku kuntu tugaragara kugeza ku miterere yacu. Ubusanzwe, dufite kopi ebyiri za buri chromosome, imwe iva kuri mama wacu n'indi iva kuri data.

Kuva ku bana barwaye syndrome ya Kuhlman-de Vries (KdVS)Abenshi (hafi 95%) bafite kopi ya gene ya `KANSL1` ibura kuri chromosome yabo nimero 17. Ibi byitwa `microdeletion` , bivuze ko igice gito cyane cya gene kibura. Abasigaye bake bafite gene ya `KANSL1`, ariko ifite itandukaniro ribuza gene gukora neza.

Uruhare rwa gene ya `KANSL1`

Iyi gene ya `KANSL1` ni ingenzi cyane. Kuko ikora poroteyine ifasha kugenzura uburyo izindi gene zikora. Ibi bibaho iyo umuntu ahinduye ikintu cyitwa `chromatin` . `Chromatin` ni uruvange rwa poroteyine na `DNA` . Ibi nibyo bituma `DNA` ishyirwa muri chromosomes. Bityo rero urashobora kubona akamaro ka gene ya `KANSL1` mu iterambere n'imikorere myiza y'ibice bitandukanye n'imikorere y'umubiri wacu.

Ese iyi ndwara ni iy'uruhererekane? (Umurage)

Indwara ya Cullen-de Vries (KdVS) ni indwara ishobora kuragwa nk '"ifite imbaraga za autosomal" . Mu magambo make, iyo umwana azunguye iyi nkomoko y'uturemangingo tw'umubiri ku mubyeyi umwe gusa, umwana ashobora kugira iyi ndwara. Iterwa n'ihinduka rimwe cyangwa gusibangana kwa genetiki muri buri turemangingo.

Ariko, si ko buri gihe biba ari ikintu gituruka ku babyeyi. Hari igihe iyo ndwara ishobora kubaho ku buryo butunguranye, de novo. Ibi bivuze ko nta muntu n'umwe mu muryango wigeze agira iyo ndwara mbere, kandi impinduka mu miterere y'uturemangingo zishobora kubaho bwa mbere mu gihe cy'imikurire y'uturemangingo tw'imyororokere y'umwana, cyangwa mu ntangiriro z'uruhinja. Kubwibyo, birashoboka ko umwana ayikura nubwo nta muntu n'umwe mu muryango wigeze agira iyo ndwara.

Ni gute abaganga basuzuma iyi ndwara?

Niba ukeka ko umwana wawe afite iyi ndwara, ikintu cya mbere muganga azakora ni ukumusuzuma witonze akakubaza ibimenyetso. Ibi bizagufasha gusobanukirwa neza imikurire n'imyitwarire y'umwana wawe.

Hanyuma, kugira ngo hemezwe neza iki kibazo, hakenewe ibizamini by’uturemangingo. Bitewe n’ubwoko bw’impinduka mu turemangingo, ubwoko bw’ibizamini bikorwa bushobora gutandukana.

• Microarray ya Chromosome: Iki kizamini gishobora kumenya niba igice cya chromosome kibuze. Ibi bifasha kumenya 'microdeletion' twavuze mbere.
• Gukurikirana imiterere y'uturemangingo: Ibi bishobora kubona itandukaniro rito riri muri gene ya KANSL1 ubwayo.

Kubera ko abana bose barwaye indwara ya Kuhlman-de Vries (KdVS) atari bo bafite ibimenyetso bimwe, abaganga bashobora kubagira inama yo gukorerwa ibizamini by'inyongera kugira ngo basobanukirwe neza ikibazo cy'umwana. Urugero:

• Isuzuma ry'iterambere: Iri suzuma urwego rw'iterambere ry'umwana n'ubuhanga bwe.
• Echocardiogram: Isuzuma imikorere n'imiterere y'umutima.
• Isuzuma ry'ibiryo: Ibi bizareba ingorane zose zijyanye no kurya cyangwa kunywa.
• Ultrasound y'impyiko: Isuzuma ibibazo byose biri mu mpyiko.
• Isuzuma rya Magnetic Resonance Imaging (MRI): Rifata amashusho arambuye y'ingingo z'imbere, nk'ubwonko.
• Imirasire ya X: Gushaka ibibazo by'amagufwa, nka scoliosis.

Si buri wese ugomba gukora ibi bizamini byose. Abaganga nibo bagena ibizamini byo gukora bakurikije ibimenyetso by'umwana n'ibyo akeneye.

Ni ubuhe buryo bwo kuvura indwara ya Koolen-de Vries?

Kugeza ubu nta muti uhari wa Koolen-de Vries Syndrome. Ibi biterwa nuko ari indwara iterwa n'uturemangingo. Ariko, hari uburyo butandukanye bwo kuvura no kuvura bushobora gufasha umwana guhangana n'ibimenyetso bye, kunoza ubuzima bwe, no kumufasha gukura neza. Ubu buryo bwo kuvura bujyanye n'ibyo umwana akeneye.

Uburyo bwo kuvura

Abaganga bakunze gutanga inama ku buryo butandukanye bwo kuvura:

• Ubuvuzi bw'akazi: Ibi bifasha umwana kugira ubumenyi bwiza mu mikorere y'umubiri (urugero: gukanda, kwandika) n'ubumenyi bw'imikoreshereze y'umubiri (urugero: kwiruka no gusimbuka) bukenewe kugira ngo akore imirimo ya buri munsi.
• Ubuvuzi bw'umubiri: Umuvuzi w'umubiri afasha gukomeza imitsi y'umwana, kunoza uburinganire, no koroshya ingendo nko kugenda. Ibi ni ingenzi cyane ku bana bafite indwara yitwa "hypotonia."
• Ubuvuzi bw'imivugire: Ibi bifasha mu gukemura ingorane zo kuvuga no kugaragaza ibitekerezo. Abavuzi b'imivugire bakoresha uburyo butandukanye nk'amashusho, ururimi rw'amarenga, n'ibikoresho byo kuvuga.

Ubundi buryo bwo kuvura n'uburyo bwo kuvura

Bitewe n'ibimenyetso by'umwana, hashobora gukenerwa ubundi buryo bwo kuvura:

• Imiti igabanya ubukana bw'indwara zo mu mutwe: Abana bafite indwara zo mu mutwe bagomba guhabwa imiti yo kubarinda.
• Gushyiramo umuyoboro w'ifunguro ku bibazo by'imirire: Abana bafite ingorane zo kumira cyangwa konka ibiryo n'ibinyobwa bashobora gukenera gushyirwamo umuyoboro w'ifunguro binyuze mu mazuru cyangwa mu nda mu buryo butaziguye mu gifu kugira ngo bahabwe intungamubiri zikenewe.
• Kubagwa: Kubagwa bishobora kuba ngombwa ku ndwara nka scoliosis cyangwa uduheri two mu nda.

Ishuri n'inkunga

Abana bashobora gukenera ubufasha butandukanye mu bijyanye no kwiga. Hari abana bakora neza mu mashuri asanzwe, abandi bagakenera ubufasha bwihariye mu burezi . Ni ingenzi cyane gushyiraho ahantu ho kwigira hajyanye n'ubushobozi n'ibyo umwana akeneye.

Ni iki cyizere cy'ubuzima bw'abantu barwaye Koolen-de Vries Syndrome?

Abashakashatsi ntibashobora kwemeza neza uko imyaka y'ubuzima bw'abantu bafite iyi ndwara ihagaze. Kubera ko idakunze kubaho cyane, haracyari ubushakashatsi buke bw'igihe kirekire kuri yo. Ariko, hashingiwe ku makuru agezweho, muri rusange abantu bafite iyi ndwara bazakomeza kubaho kugeza bakuze .

Ni iki nakwitega mu gihe umwana wanjye afite indwara ya Kuhl-de Vries (KdVS)?

Ubuzima bw'abana barwaye indwara ya Koolen-de Vries bushobora gutandukana cyane bitewe n'uburemere bw'ibimenyetso byabo. Umwana wawe ashobora gukenera kubonana n'abaganga batandukanye no kujya kwa muganga kenshi. Ubuvuzi n'imiti bishobora kuba igice kinini cy'ubuzima bwe. Nanone, bamwe mu bana bafite iyi ndwara bashobora kudakenera kubonana n'abaganga cyangwa guhabwa ubuvuzi kenshi nk'abandi.

Igikuru ni ukwibuka ko utari wenyine. Abaganga n'abavuzi b'umwana wawe bari kumwe nawe mu ntambwe zose.

Ushobora gufasha umwana wawe kubona ubufasha akeneye ku ishuri. Ibi bishobora kuba birimo amasomo yihariye cyangwa umwarimu . Vugana n'abarimu b'umwana wawe n'abayobozi b'ishuri kugira ngo bamufashe kubona ibikoresho akeneye. Urugero, niba umwana wawe afite ikibazo cyo kuvuga, menya neza ko akorana n'umuganga w'indwara zo kuvuga.

Abantu bakuru barwaye indwara ya Kuhlman-de Vries Syndrome (KdVS) bakunze kugorwa no kubaho mu bwigunge. Iki ni ikintu kigomba gusuzumwa hamwe n'ababitaho ndetse n'abaganga, bitewe n'imimerere ya buri muntu.

Iyo umenye ko umwana wawe afite Kuhlman-de Vries Syndrome (KdVS), ni ibisanzwe kumva amarangamutima atandukanye, harimo agahinda, guhangayika, ndetse wenda n'uburakari. Ntabwo byoroshye guhangana n'ayo marangamutima. Ariko, ndashaka kukwibutsa ko utari wenyine. Abaganga b'umwana wawe, abaforomo, n'abavuzi bazagufasha muri uru rugendo. Kuva ku gusuzuma indwara kugeza ku kuvurwa, biyemeje kugufasha gucunga indwara y'umwana wawe no gufasha umwana wawe kubaho neza.

Amaherezo, ubutumwa bwo kujyana mu rugo

• Koolen-de Vries Syndrome ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Iterwa n'impinduka mu ngirabuzimafatizo ya `KANSL1` kuri chromosome 17.
• Kudindira mu mikurire, ubumuga bwo mu mutwe, n'imiterere yihariye mu maso ni bimwe mu bimenyetso by'ingenzi by'iyi ndwara.
• Aba bana akenshi baba bishimye kandi b'inshuti .
• Nubwo nta muti wihariye uhari, hari uburyo butandukanye bwo kuvura no kuvura ibimenyetso no kunoza ubuzima .
• Kumenya umwana hakiri kare no kumugiraho ingaruka zikenewe ni ingenzi cyane mu mikurire ye.
• Niba umwana wawe afite iyi ndwara, icy'ingenzi ni ugukurikiza inama za muganga, kumuvura neza, no kumugaragariza urukundo n'ubufasha bihagije .
• Kwinjira mu matsinda y’abaterankunga ku babyeyi b’abana bafite ibi bibazo nabyo bishobora kuba isoko ikomeye y’imbaraga. Ntukigere utinya kubaza abaganga bawe ibibazo byawe n’impungenge zawe.

Twizeye ko aya makuru yagufashije gusobanukirwa neza indwara ya Koolen-de Vries.

Indwara za Cullen -De Vries, Indwara z'uturemangingo, Gutinda k'imikurire, Ubumuga bwo mu mutwe, Gene ya KANSL1, Chromosome 17, Ubuzima bw'Umwana