Ese umwana wawe afite ibibazo mu magufwa no mu ngingo? - Reka twige kuri Spondyloepiphyseal Dysplasia Congenita (SEDC)

Ese muganga yakubwiye ko umwana wawe afite impinduka nto mu magufwa no mu ngingo igihe yavukaga? Cyangwa wabonye ko umwana wawe ari mugufi kurusha abandi bana, cyangwa ko hari ikintu gitandukanye n’uko agenda? Wenda ndetse n’ibibazo byo kutabona neza. Ni ibisanzwe kumva ufite ubwoba iyo wumvise ibi bintu. Ariko ntugahangayike. Uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara cyane ishobora gutera ibi bimenyetso, yitwa Spondyloepiphyseal Dysplasia Congenita, cyangwa SEDC mu magambo ahinnye.

Ese koko iyi SEDC imeze ite?

Muri make, SEDC ni indwara idakunze kugaragara mu buryo bw'uturemangingo . Igira ingaruka ku mikurire y'amagufwa y'umwana wawe, ingingo ze, ndetse rimwe na rimwe n'amaso. Icy'ingenzi ni uko izi ngaruka zitangirira mu nda kandi ibimenyetso bikagaragara igihe avuka . Niyo mpamvu yitwa "congenita," bivuze "kuva avutse."

Abana bafite SEDC bakunze kugaragaza ibi bikurikira:

• Ingingo zitari zihagaze neza mu mugongo, mu kibuno no mu mavi.
• Indwara yo kubura amagufwa mu ruhu ni indwara igira ingaruka ku mikurire y'umwana muri rusange.
• Ni ngufi ugereranije n'uburebure busanzwe , cyane cyane mu gituza, mu ijosi no mu maguru.
• Ubumuga bwo kutabona no kutumva .

Iyi ndwara yitwa andi mazina menshi, urugero:

• SED congenita (SED congenita)
• SED, ubwoko bw'amavuko
• SEDc
• Spondyloepiphyseal dysplasia, ubwoko bw'indwara yavutse

Ibi bikunze kugaragara cyane ku buryo bibaho ku bana bavutse ari 1 gusa mu bana 100.000 . Ibyo ni gake cyane. Kuri ubu hari abarwayi 175 gusa bagaragaye ku isi yose.

Ni irihe tandukaniro riri hagati ya SEDC na SEDT?

Kimwe na SEDC, hari indi ndwara yitwa Spondyloepiphyseal Dysplasia Tarda (SEDT) . Nubwo byombi bisa, hari itandukaniro rito.

"Congenita" bisobanura "igihe cyo kuvuka", "Tarda" bivuga "gutinda". Ni ukuvuga:

• Ibimenyetso bya SEDT bikunze kugaragara hagati y'imyaka 6 na 8. Ariko, SEDC igaragara igihe umuntu avutse.
• SEDT igira ingaruka ku bahungu gusa , ariko SEDC ishobora kugira ingaruka ku bahungu n'abakobwa kimwe.
• Abantu bafite SEDC bafite ibyago byo gucika kw'ijisho ry'umura, ariko muri rusange ibi byago biba bike muri SEDT.

Impamvu ya SEDC ni iyihe?

Impamvu nyamukuru ya SEDC ni impinduka muri gene `COL2A1` . Iyi gene `COL2A1` niyo ishinzwe gukora kolajeni yo mu bwoko bwa kabiri mu mubiri wacu.Bifasha gukora poroteyine yitwa kolajeni. Kolajeni ni ingenzi mu kubaka ingirabuzimafatizo mu mubiri wacu. Ni yo ituma ingirabuzimafatizo zacu zikomera kandi zikagira ishusho.

Kolajeni yo mu bwoko bwa kabiri iboneka cyane cyane muri karitsiye no mu kintu cyitwa vitreous . Cartilage ni urugingo rukomeye ariko rworoshye ruboneka ahantu nko mu ngingo zacu no mu matwi. Vitreous ni ikintu kimeze nk'umusemburo kiboneka mu mboni z'amaso yacu. Niba rero iyi kolajeni idakozwe neza, ushobora kwiyumvisha uburyo yagira ingaruka ku magufwa yacu, ingingo n'amaso.

Akenshi, SEDC iterwa n'impinduka nshya ya gene (de novo mutation) . Ibi bivuze ko nta muntu n'umwe mu muryango wigeze agira iyi ndwara mbere. "De novo mutation" ibaho iyo intanga n'igi bihuye. Igira ingaruka kuri uwo mwana gusa, ntabwo bigira ingaruka ku bavandimwe b'uwo mwana.

Ariko, rimwe na rimwe iyi mihindagurikire y’uturemangingo twa 'COL2A1' ishobora kuragwa n'umwe mu babyeyi.

Ni ibihe bimenyetso bya SEDC?

Ibimenyetso bya SEDC bishobora gutandukana cyane bitewe n'umuntu ku wundi . Hari abantu bashobora kugira ibimenyetso byinshi, abandi bakaba bafite bike.

Ibintu by'ingenzi bigaragara ku mubiri ni ibi bikurikira:

• Igituza, ijosi, n'amaguru ni bigufi kurusha ibindi.
• Kuba ari mugufi , uburebure buri hagati ya metero 0.91 na 1.2 mu gihe umuntu akuze.
• Igituza kinini, gifite ishusho nk'iy'umunwa . Igufwa ry'igituza cyangwa imbavu bishobora kugaragara.
• Ikirenge cy'ikirenge . Ariko, ingano n'imiterere y'amaboko n'ibirenge bishobora kuba bisanzwe.
• Uburyo butandukanye bwo kugorama k'umugongo . Urugero, hashobora kubaho indwara nko kugorama k'uruhande (Scoliosis), kugorama k'inyuma (Kyphosis), kugorama k'imbere (Lordosis), cyangwa uruvange rw'ibi.
• Impinduka zimwe na zimwe mu maso , nko kwaguka kw'amaso, kugorama kw'amagufwa y'amataya, cyangwa kumera nk'aho umunwa upfutse .
• Uruti rw'umugongo ruragorama cyangwa ntirugire aho ruhagarara .
• Guhinduranya ingingo z'ikibuno cyangwa ivi imbere .

Hariho kandi ingaruka mbi zishobora guterwa n'ibi bibazo byo gukura:

• Indwara ya rubagimpande .
• Kugorwa no kugenda no kwimuka .
• Kubura amatwi .
• Kubabara kw'ingingo, ububabare, no gucika kw'ingingo .
• Sciatica ni indwara itera ububabare mu mugongo wo hasi, mu matako no mu mugongo w'amaguru bitewe no gukanda imitsi.
• Kugorwa no guhumeka bitewe n'ibibazo byo gukura kw'igituza cyangwa imbavu.
• Ibibazo byo kutabona neza , cyane cyane kutareba hafi cyane no gucika kw'ijisho .
• Mu gihe ugenda n'amaguruKugenda mu mazi cyangwa gufata igihe kirekire wiga kugenda.
• Kugabanuka k'imitsi (Hypotonia) .

Icy'ingenzi ni uko abantu bafite ubumuga bwo mu mutwe (SEDC) baba bafite iterambere ryiza mu bwenge. Ibi bivuze ko ubumuga bwo mu mutwe budakunze kugaragara. Ariko, intambwe z'iterambere ry'umubiri nko kwicara no kugenda zishobora kutagerwaho mu myaka ikwiye.

Ni gute wamenya uko SEDC ihagaze?

Umuganga ashobora gusuzuma SEDC yitonze areba ibimenyetso by'umubiri w'umwana n'ibyavuye mu bizamini bikurikira:

• Gupima imiterere y'uturemangingo - Ibi bishobora kwemeza neza niba hari impinduka mu ngirabuzimafatizo ya `COL2A1`.
• Imirasire ya X y'igikanka cyose.
• Ibindi bizamini byo gufata amashusho, nka CT scans (Computed Tomography scans) na MRI (Magnetic Resonance Imaging) .

Ese hari uburyo bwo kuvura SEDC? Ese ishobora kuvurwa?

Ikibabaje ni uko nta muti wa SEDC uraboneka kugeza ubu . Ariko ntugire ikibazo. Dore bimwe mu bintu ushobora kwitega mu buvuzi:

• Kugenzura no kugabanya ibimenyetso byawe .
• Niba bishoboka, gukosora ubumuga bw'amagufwa binyuze mu kubagwa .
• Kwirinda ingorane nko gukomereka no kutabona neza.
• Kunoza imbaraga zawe no kugenda neza .

Ni ubuhe buryo bwo kuvura buhari kuri SEDC?

Uburyo bwo kuvura butangwa buratandukanye bitewe n'umuntu ku giti cye , bitewe n'ibibazo runaka ufite n'uburemere bwabyo.

Ugomba gukurikiranwa buri gihe n'abaganga . Muri ubu buryo, niba hari ikibazo kivutse, gishobora kumenyekana no kuvurwa vuba. Itsinda ry'abaganga bawe rishobora kuba ririmo inzobere nka:

• Abajyanama mu by'imiterere y'umubiri
• Abaganga b'amaso - Abavura indwara z'amaso.
• Abaganga b'amagufwa - inzobere mu kubaga amagufwa n'ingingo .
• Abavuzi b'umubiri - abantu bafasha kongera imbaraga, kugenda no kugenda.
• Abaganga bavura indwara z'amagufwa, imitsi n'ingingo, nka rubagimpande.

Izi ni zo ngamba zishoboka:

• Ibikoresho bifasha mu kugenda neza, nk'ibishyigikizo by'amaguru.
• Indorerwamo zo gukosora ubumuga bwo kutabona.
• Imiti yo kugabanya ububabare bw'ingingo.
• Ubuvuzi bw'umubiri .
• Kubagwa kugira ngo hakosorwe ubumuga bw'umugongo.
• Ibindi bibazo by'ingingo, urugero nko kubagwa ingingo zisimbura izindi .
• Kubagwa kugira ngo hakosorwe uburyo retinal degradation ihinduka.
• Uburyo bwo kuvura kugira ngo byorohere guhumeka.

Ubuzima buzaba bumeze bute muri SEDC?

Ubuzima bwo kugira SEDC buratandukanye cyane bitewe n'ibimenyetso n'ubukana bwabyo.

Iyi ndwara ishobora kugira ingaruka zikomeye ku kugenda kwawe no ku bushobozi bwawe bwo gukora imyitozo ngororamubiri. Abantu benshi bashobora gukenera kuvurwa no kubagwa ubuzima bwabo bwose.

Ariko, ikintu cyiza ni uko abantu bafite SEDC bagira iterambere risanzwe mu bwenge kandi bakabasha kubaho ubuzima busanzwe .

Ese hari uburyo bwo gukumira SEDC?

Ikibabaje ni uko nta buryo bwo kwirinda SEDC kuko ari genetike. Kumenya ko imiryango imwe ifite `COL2A1` mutation bishobora gutuma batekereza kabiri ku kubyara cyangwa bagashaka inama ku genetike.

Ni gute wita ku muntu ufite SEDC (wowe ubwawe cyangwa umwana wawe)?

Niba wowe cyangwa umwana wawe afite SEDC, ni ngombwa cyane gukurikiza izi nama kugira ngo wihanganire iyi ndwara:

• Shaka abaganga bawe ku gihe, witabire ibizamini byose n'inama zo gukurikirana .
• Irinde siporo ikorerwa ku mubiri , cyane cyane ibikorwa bishobora gutera imvune ku mutwe no mu ijosi, kuko ingingo zidakora neza kandi zishobora gukomereka byoroshye.
• Witondere cyane mu gihe uhabwa ikinya . Bwira abaganga bawe bose ko ufite SEDC, kuko zimwe mu miterere y'umubiri wawe zishobora guteza ingorane mu gihe cyo kubagwa.
• Gerageza gushaka umujyanama cyangwa winjire mu itsinda rigufasha guhangana n'iki kibazo. Ibi bizagufasha kwigira ku byo abandi bahuye na byo kandi bigufashe kumva ko utari wenyine.

Ni iki kindi wifuza kubaza muganga wawe kuri SEDC?

Niba wowe cyangwa umwana wawe musanzwe murwaye SEDC, ni byiza kubaza abaganga banyu ibi bibazo:

• Ni ibihe bice by'umubiri wanjye SEDC igiraho ingaruka ?
• Ni bande bahanga ngomba kubonana nabo?
• Ni kangahe nkwiye kuza gukora ibizamini byo gukurikirana no kubonana n'abaganga ?
• Ni ubuhe buryo bwo kuvura nkeneye ?
• Ese gusinziriza nta kibazo kuri njye ?
• Ese iki kibazo gishobora kuragwa n'abana banjye ?
• Ese abandi bagize umuryango wacu nabo bagomba gupimwa imiterere y’uturemangingo ?
• Ese hari amatsinda y'ubufasha uzi ashobora kugufasha guhangana n'iki kibazo?

Ni ibisanzwe kumva ufite ubwoba no guhangayika iyo umenye ko umwana wawe afite ikibazo cy’uturemangingo gisaba kuvurwa. Ariko ibuka ko itsinda ry’abaganga ririho kugira ngo rigufashe. Binyuze muri bo, ushobora kandi kubona amatsinda y’abaterankunga aho ushobora gusangiza abandi bafite iki kibazo kidasanzwe cy’uturemangingo.

Ibintu by'ingenzi cyane ugomba kwibuka

Noneho, ukurikije ibyo twavuze kuri SEDC, ibi ni ibintu by'ingenzi ugomba kwibuka:

• SEDC ni indwara idakunze kugaragara cyane, ivukanwa mu buryo bw'uturemangingo .
• Ibi bigira ingaruka cyane cyane ku magufwa, ingingo, ndetse rimwe na rimwe n'amaso .
• Nubwo nta muti wuzuye uhari, hari uburyo butandukanye bwo kuvura bukoreshwa mu kurwanya ibimenyetso no kunoza ubuzima .
• Iterambere ry'ubwenge ni ibisanzwe , kandi ubuzima busanzwe bushobora kwitegwa.
• Gucungwa neza bishobora kugerwaho hakoreshejwe uburyo bukwiye bwo kuvura, ubuvuzi bw'umubiri, ndetse nibiba ngombwa no kubagwa .
• Ntabwo uri wenyine. Ushobora kubona ubufasha bw'abaganga n'amatsinda y'abaterankunga .

Ndizera ko aya makuru azagufasha. Niba ufite ikibazo icyo ari cyo cyose, ntutindiganye kubaza muganga wawe.

` spondyloepiphyseal dysplasia congenita, SEDC, indwara za gene, iterambere ry'amagufwa, ibibazo by'ingingo, uburebure bugufi, kolajeni, gene ya COL2A1