Indwara ya Crouzon ni iki? Ese tuvuge kuri yo?

Ese wigeze ugira amatsiko cyangwa uhangayikishijwe n'imiterere y'umutwe cyangwa isura y'umwana wawe? Hari igihe, hari indwara zibaho iyo amagufwa yo mu gahanga k'umwana yivanze vuba cyane. Kimwe mu bintu bidakunze kugaragara ariko by'ingenzi ugomba kumenya ni indwara ya Crouzon. Reka tubiganireho mu buryo bworoshye ushobora gusobanukirwa.

Indwara ya Crouzon ni iki?

Muri make, indwara ya Crouzon ni indwara idakunze kugaragara mu buryo bw’uturemangingo . Ikibaho ni uko ingingo z’imitsi zihuza amagufwa yo mu gahanga k’umwana wawe, zitwa sutures, zihuza mbere y’igihe . Iyo amagufwa yo mu gahanga yivanze vuba cyane, umutwe w’umwana ntuba ufite umwanya uhagije wo gukura neza. Abaganga babyita craniosynostosis. Ibi bishobora gutuma umutwe n’isura by’umwana bisa ukundi. Crouzon syndrome ni imwe mu ndwara nyinshi zo mu gahanga zigira ingaruka ku mikurire y’agahanga n’isura by’umwana.

Ni nde ushobora kugira iyi ndwara?

Crozon syndrome ni indwara iterwa n’uturemangingo, bityo ishobora kugira ingaruka ku muntu uwo ari we wese. Iterwa n’impinduka (mutation) muri gene, bivuze ko gene idakora neza. Crozon syndrome ishobora kuragwa n’ababyeyi, cyangwa ikabaho nk’impinduka nshya muri gene.

Niba umwana wawe avukana indwara ya Crouzon syndrome, bivuze ko umwe mu babyeyi ari we wenyine ufite iyi gene yahindutse akayiha umwana. Iyi ndwara yitwa "autosomal dominant" inherent. Mama cyangwa se ufite indwara ya Crouzon syndrome afite amahirwe angana na 50%, cyangwa 50%, yo kwanduza umwana we iyo ndwara. Tekereza nk'amahirwe yo kuzunguza igiceri ugatangira gukubita umutwe.

Hari igihe, nubwo ababyeyi badafite iyi ndwara, impinduka mu buryo bwikora mu gi rya nyina cyangwa mu ntanga ya se mu gihe umwana arimo gukura, bigatera indwara ya Crozon. Muri iki gihe, si ikintu gikomoka ku babyeyi. Cyane cyane iyo se afite imyaka iri hagati ya 40 na 45, hari amahirwe menshi y’uko impinduka nshya mu ntanga ze z’intanga zishobora kubaho.

Indwara ya Crozon ikunze kugaragara gute?

Indwara ya Crozon ni indwara idakunze kugaragara cyane . Yibasira umwana umwe mu bana 60.000 bavutse. Ariko, Crozon syndrome ni yo ndwara ikunze kugaragara cyane. Indwara ya Crozon ifata abantu bagera kuri 4.8% by'indwara zose za craniosynostosis.

Ni ibihe bimenyetso by'indwara ya Crozon?

Indwara ya Crouzon igira ingaruka cyane ku buryo amagufwa y'umutwe n'amagufwa yo mu maso y'umwana wawe akura. Ibimenyetso by'iyi ndwara bishobora kuba byoroshye cyane ku bana bamwe, ndetse bikaba bikomeye gato ku bandi. Ibi bimenyetso birimo:

• Amaso aba ari kure cyane (hypertelorism).
• Isura y'amaso agaragara (proptosis). Ni nk'aho amaso yagutse.
• Amaso afite uruhu (strabismus).
• Agahanga kagaragara.
• Izuru ni rito kandi rifite ishusho nk'iy'umunwa.
• Umusaya wo hasi ntukura neza.
• Hari igihe iminwa icikagurika cyangwa ikara .

Ni izihe ngorane ibi bishobora gutera?

Uretse impinduka ku mubiri ziterwa na Crouzon syndrome, umwana wawe ashobora guhura n'ingorane zimwe na zimwe. Ni ngombwa kandi kumenya ibi bikurikira:

• Ibibazo byo kureba: Uburyo amaso ahagaze cyangwa igitutu cyiyongera mu gahanga bishobora kugira ingaruka ku buryo amaso ahagaze.
• Ibibazo by'amenyo: Bitewe n'uburyo urwasaya rukura, ibibazo ku buryo amenyo yinjira n'uko ahagaze bishobora kubaho.
• Kubura amatwi: Kubura amatwi bishobora guterwa n'ingaruka z'imiterere iri imbere mu gutwi.
• Guhumeka nabi: Impinduka mu mazuru no mu muhogo zishobora gutuma guhumeka bigorana, cyane cyane mu gihe usinziriye.
• Hydrocephalus: Iyi ni indwara aho amazi akikije ubwonko (CSF) yiyongera kandi yongera umuvuduko mu gahanga.
• Ni gake cyane, ubumuga bwo mu mutwe: Nubwo ubwenge busanzwe ari ubusanzwe, bamwe mu bana bashobora kugira ubumuga bwo kwiga.

Ni iki gitera indwara ya Crozon?

Impamvu nyamukuru itera Crouzon syndrome ni impinduka mu miterere y’uturemangingo (mutation) muri gene yitwa `FGFR2` . Muri make, iyi gene ya `FGFR2` itegeka umubiri wacu gukora poroteyine yihariye. Iyo poroteyine yitwa `(fibroblast growth factor receptor)`. Akamaro k'iyi poroteyine ni ugufasha uturemangingo tw'umwana tutarakura guhinduka uturemangingo tw'amagufwa mu gihe akiri mu nda ya nyina.

Ariko, iyo gene ya FGFR2 igize impinduka, poroteyine ya FGFR2 irakora cyane. Hanyuma, utwo turemangingo tudakuze dutangira guhinduka uturemangingo tw'amagufwa . Ingaruka zabyo ni uko amagufwa y'agahanga k'umwana ahura mbere y'igihe.

Indwara ya Crozon ipimwa ite?

Iyi ndwara ikunze kumenyekana iyo umwana wawe avutse, iyo abaganga bamusuzumye. Muganga azasuzuma umwana neza . Umutwe n'isura by'umwana bishobora kuba bifite imiterere yavuzwe haruguru yo mu maso, bishobora kuba bigaragaza indwara ya Crouzon. Muganga azakubaza kandi niba hari umuntu wo mu muryango wawe wigeze kugira iyi ndwara.

Ni ibihe bipimo bikorwa kugira ngo byemezwe ko indwara yanduye?

Muganga ashobora gukora ibindi bizamini byinshi kugira ngo yemeze ko afite indwara ya Crouzon. Iby'ingenzi ni ibi bikurikira:

• Gupima CT (Computed Tomography - CT scan): Ibi bishobora gufata amashusho y’imiterere y’umubiri w’umwana mu buryo butandukanye. Ibi bifasha kubona ibintu nk’uburyo amagufwa y’agahanga ateye n’imiterere y’ubwonko.
• Gupima MRI (Magnetic Resonance Imaging - MRI scan): Ibi bishobora kandi gufata amashusho arambuye y'ingingo n'imitsi by'umwana. Ibi ni ingenzi kugira ngo umuntu asobanukirwe neza ubwonko n'izindi ngingo zoroshye.
• Gupima imiterere y’uturemangingo: Ibi bizamini by’uturemangingo bishobora kumenya neza niba hari impinduka mu ngirabuzimafatizo ya FGFR2 yavuzwe haruguru zitera indwara ya Crouzon.

Indwara ya Crozon ivurwa ite?

Umwana wawe azavurwa n'itsinda ry'abaganga n'abakozi bo mu rwego rw'ubuzima bafite imyitozo yihariye ku ndwara zo mu mutwe . Ni nk'ikipe ya Cricket. Buri muntu afite inshingano ze, ariko buri wese akorera hamwe kugira ngo agere ku musaruro mwiza ku mwana wawe. Iri tsinda rishobora kuba rigizwe na:

• Muganga w'abana w'umwana wawe.
• Umuganga w’indwara z’ubwonko .
• Umuganga w’inzobere mu kubaga pulasitiki (plastic surgeon) .
• Inzobere mu kuvura amenyo .
• Umujyanama mu by'imiterere y'umubiri .
• Umukozi ushinzwe imibereho myiza y'abaturage .
• Inzobere mu matwi, amazuru n'umuhogo (umuganga w'indwara z'uruhu - otolaryngologist)
• Umuganga w'amatwi .
• Inzobere mu by'amaso .

Kubaga (kubaga)

Uburyo bw'ingenzi bwo kuvura indwara ya Crouzon ni ukubaga . Ubu buryo bwo kubaga bukorwa n'umuganga w'imitsi. Biteganijwe ko ubu buryo buzaba:

• Gutanga umwanya ukwiye w'ubwonko bw'umwana bukura .
• Kugabanya umuvuduko utari ngombwa imbere mu gahanga.
• Kunoza imiterere n'imiterere y'umutwe w'umwana ku rugero runaka .

Hari igihe biba ngombwa ko habaho kubagwa inshuro zirenze imwe, bitewe n'uko umwana ameze.

Ubuvuzi bw'ingofero

Ariko, si abana bose bakeneye kubagwa . Niba umwana wawe afite ubwoko bworoheje bwa Crouzon syndrome, muganga ashobora kukugira inama yo kumuvura ingofero.Bishobora kwitabwaho. Ikibaho muri ibi ni uko umwana ahabwa ingofero yabugenewe yo kwa muganga. Iyi ngofero igenda ikosora imiterere y'agahanga k'umwana uko igihe kigenda gihita.

Ni gute wakwitwara mu gihe ibimenyetso bihari?

Uretse kuvura, itsinda ry’abaganga b’umwana wawe rishobora kukugira inama y’ubundi buryo butandukanye bwo kuvura bugamije kunoza ubuzima bw’umwana wawe.

• Ubuvuzi bw'imibanire y'abantu: Abavuzi b'imibanire y'abantu (akenshi abakozi b'imibereho myiza y'abaturage) baguha wowe, umwana wawe, n'abandi bagize umuryango ubufasha bw'imibanire bakeneye. Ubwo bufasha ni ingenzi cyane iyo uhanganye n'ibibazo nk'ibi.
• Ubujyanama ku bijyanye n'imiterere y'umubiri: Abajyanama ku bijyanye n'imiterere y'umubiri bashobora kwemeza ko umwana wawe arwaye, ndetse bakakugira inama ku bijyanye n'iyo ndwara, icyo wakwitega mu gihe kiri imbere, n'uko ishobora kugira ingaruka ku bandi bagize umuryango.
• Ubuvuzi bw'umubiri: Abavuzi b'umubiri bafasha gukomeza imitsi n'imitsi y'umwana no gutanga imyitozo ngororamubiri kugira ngo bongere ubushobozi bwo koroherwa n'umubiri.
• Ubuvuzi bw'akazi: Abavuzi b'akazi bafasha guteza imbere ubuhanga bw'umwana bwo gufata ibintu bito (urugero: gufata ibintu bito), kubona ibintu, gutekereza neza, no gutunganya ibyumviro.
• Ubuvuzi bw'imivugire: Abavuzi b'imivugire bafasha abantu gukemura ibibazo byo kuvuga, ururimi, itumanaho, ndetse no kugaburira no kumira.

Ese ibyago byo kubyara umwana urwaye indwara ya Croson bishobora kugabanuka?

Kubera ko indwara ya Crozon iterwa n’impinduka mu buryo budasanzwe mu miterere y’uturemangingo, nta buryo na bumwe bwo kuyikumira . Ishobora no kubaho ku buryo butunguranye.

Igikuru ni ukumenya ko iki atari ikintu wakoze cyangwa utakoze mbere cyangwa mu gihe utwite.

Ariko, niba umubyeyi ufite indwara ya Croson ashaka kubuza umwana we kurwara iyi ndwara, ashobora gukoresha ikoranabuhanga rya "in vitro fertilization" (IVF) hamwe no gupima intanga ngore . Aho niho hari amahirwe yo guhitamo intanga ngore zizima no kuzishyira mu mura.

Niba utegereje umwana mu gihe kizaza, cyane cyane niba ufite indwara ya Crouzon cyangwa niba hari umuntu wo mu muryango wawe ufite iyo ndwara , ni byiza kuganira na muganga wawe ku bijyanye no gupima imiterere y’umubiri. Gupima imiterere y’umubiri bishobora gusuzuma ibyago byo kubyara umwana ufite iyo ndwara y’umubiri.

Ni iki nakwitega mu gihe umwana wanjye arwaye indwara ya Crouzon?

Ejo hazaza hazaba hameze hate ku mwana urwaye indwara ya Croson?Biterwa n'uburyo isuzuma ryihuse rikorwa n'uburyo ubuvuzi bugenda neza. Umwana wawe azakenera kwitabwaho byihuse no gukurikiranwa n'abaganga buri gihe (gukurikiranwa).

Ariko, iyo ubuvuzi butangiye hakiri kare, umwana wawe ashobora kubaho ubuzima busanzwe. Nubwo hashobora kubaho gutinda gukura, abantu benshi barwaye indwara ya Croson bafite ubwenge busanzwe. Bityo rero ni ngombwa gukomeza kugira icyizere.

Ni irihe tandukaniro riri hagati ya Crozon syndrome, Apert syndrome, na Pfeiffer syndrome?

Bishobora gutera urujijo kumva aya mazina, ariko ni byiza kumenya itandukaniro rito riri hagati yayo.

• Apert Syndrome: Kimwe na Crouzon syndrome, Apert syndrome ni indwara aho amagufwa y'agahanga ahurira hamwe (craniosynostosis) bitewe n'impinduka mu ngirabuzimafatizo ya FGFR2. Ariko, Apert syndrome ubusanzwe ntabwo ikabije cyane nka Crouzon syndrome. Uretse imiterere y'indwara yo mu mutwe ya Crouzon syndrome, abana bafite Apert syndrome bashobora kuba bafite intoki n'amano bifatanye cyangwa bifite uruziga. Intoki zishobora kuba ngufi, kandi ikirenge kinini n'ikirenge kinini bishobora kuba binini kandi bigari. Ubumuga bwo mu mutwe nabwo bukunze kugaragara muri Apert syndrome kurusha muri Crouzon syndrome.

• Indwara ya Pfeiffer: Iyi ni indwara yitwa craniosynostosis, iterwa n'impinduka mu ngirabuzimafatizo ya FGFR2 (ndetse na FGFR1). Hari ubwoko butatu bw'ingenzi bwa Pfeiffer syndrome, buri bumwe bufite ubukana butandukanye. Abana bafite Pfeiffer syndrome nabo bafite imiterere y'umutwe n'isura ya Crouzon syndrome. Byongeye kandi, intoki ngufi, nini n'amano ni ikimenyetso cyihariye. Mu bwoko bwa 2 na 3 bwa Pfeiffer syndrome, imiterere y'umutwe n'isura irushaho gukomera. Ibibazo byo mu mutwe no mu bwonko nabyo bikunze kugaragara muri ubwo bwoko.

Kumva ko umwana wawe afite indwara idakunze kugaragara mu buryo bw'uturemangingo bishobora kugutera ubwoba no kugutera ubwoba. Ibyo ni ibisanzwe.

Ariko, ikintu cy'ingenzi cyo kwibuka ni uko indwara ya Crouzon atari indwara ishyira ubuzima mu kaga cyangwa ngo ihitane.

Itsinda ry'abaganga b'inzobere rizakorana nawe n'umwana wawe kugira ngo ritange umusaruro mwiza ushoboka. Iyo indwara igaragaye hakiri kare kandi ikavurwa neza, umwana wawe ashobora kubaho ubuzima busanzwe kandi bufite ubuzima bwiza.

Ubutumwa bwa nyuma bwo kujyana mu rugo

Noneho rero, dore bimwe mu bintu by'ingenzi ugomba kwibuka mu byo twavuze:

• Indwara ya Crouzon ni indwara idakunze kugaragara mu buryo bw’uturemangingo irangwa no kwivanga kw’amagufwa y’agahanga k’umwana vuba.
• IbiBishobora kuragwa n'ababyeyi cyangwa bigaterwa n'impinduka mu buryo butunguranye mu miterere y'umubiri.
• Ibi bigaragarira mu maso hihariye nko kureba kure, amaso agaragara, n'agahanga k'imbere.
• Gusuzuma indwara bikorwa binyuze mu gusuzuma umubiri, gupima, no gupima imiterere y'umubiri .
• Kubaga ni bwo buryo bw'ingenzi bwo kuvura, ariko rimwe na rimwe ubuvuzi bw'ingofero nabwo burakoreshwa.
• Inkunga y'itsinda ry'abaganga b'inzobere ndetse n'ubuvuzi butandukanye ni ingenzi cyane kugira ngo ubuzima bw'umwana burusheho kuba bwiza.
• Ibi si ikosa ryawe, ni ikindi kintu gusa.
• Iyo umwana asuzumwe hakiri kare kandi agahabwa ubuvuzi, ashobora kubaho ubuzima busanzwe kandi akenshi afite ubwenge busanzwe.

Ndizera ko aya makuru azagufasha. Niba ufite ikibazo cyangwa impungenge, ntugatinye kuvugana na muganga.

Indwara ya Crozon , indwara z'uturemangingo, ibihumyo, indwara z'abana, kubagwa, ubumuga bwo mu maso, gene ya FGFR2