Ese umwana wawe afite iyi ndwara idasanzwe? (Infantile Neuroaxonal Dystrophy - INAD) Reka tubimenye!

Uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara ababyeyi benshi batigeze bumva, ariko ikaba ifata abana. Yitwa `(Infantile Neuroaxonal Dystrophy)` cyangwa `(INAD)` mu magambo ahinnye. Nubwo iri zina rishobora kumvikana nk'aho riteye ubwoba, ni ngombwa cyane kurimenya. Kuko niba ubonye impinduka ku mwana wawe, ugomba kwihutira gushaka inama kwa muganga.

`(Infantile Neuroaxonal Dystrophy - INAD)` ni iki? Reka tubisobanukirwe mu buryo bworoshye!

Mu magambo make, `(INAD)` ni indwara idakunze kugaragara, ikwirakwira mu mitsi yacu. Ikibaho muri ibi ni uko ubwoko bw'ibinure, byitwa `(lipide),` byirundanya mu turemangingo tw'imitsi bitari ngombwa. Tekereza nk'insinga zitwara ubutumwa mu mibiri yacu. Iyo ibinure byirundanyije muri izi nsinga, ubwo butumwa ntibugenda neza.

Hanyuma se bigenda bite?

Ibi bituma umwana atakaza ubushobozi bwo kugenzura imitsi , akabura ubushobozi bwo kureba , akagorwa no kuvuga , ndetse akabura n'iterambere ry'ubwenge . Akenshi, ibi bimenyetso bigaragara mu bwana (mbere y'imyaka 3). Ariko, rimwe na rimwe ibi bimenyetso bishobora kugaragara nyuma gato, ni ukuvuga mu bwana.

Iyi ni indwara iri mu cyiciro cya `(indwara yo kubika ibinure mu mubiri).` Ni ukuvuga indwara iterwa no kubika ibinure mu mubiri. Ikibabaje ni uko nta muti wuzuye w’iyi ndwara ishobora kwica witwa `(INAD).`

`(Indwara yo kubika ibinure mu mubiri)` ni iki?

Indwara zo kubika ibinure mu mubiri ni itsinda ry'indwara ziri mu cyiciro cy'indwara z'imikorere y'umubiri zivuka. Muri make, zigira ingaruka ku mikorere y'umubiri wacu, inzira duhinduramo ibiryo turya mo ingufu no gukuraho imyanda mu mibiri yacu.

Lipide ni ibinure biboneka mu turemangingo twacu, cyane cyane mu gice cy’imitsi gitwikiriye imitsi yo mu bwonko no mu ruti rw’umugongo. Ni ingenzi cyane ku mitsi yacu. Abantu bafite ikibazo cyo kubika ibinure bafite ibinure bibikwa mu mibiri yabo aho kubikoresha neza.

Indwara zo kubika ibinure nka INAD ni indwara zikomeza kwiyongera . Ni ukuvuga ko uko ibinure byiyongera mu mubiri, ibimenyetso bigenda birushaho kwiyongera.

Izina "Infantile Neuroaxonal Dystrophy" risobanura iki?

Gusobanukirwa amagambo ari muri iri zina bizafasha gusobanura neza indwara:

• Impinja: `(INAD)` ni indwara ibaho igihe cyo kuvuka (`(indwara yo kuvukana)`). Ibimenyetso bikunze kugaragara mu bwana, mbere y'imyaka 3.
• Neuroaxonal: Iyi ndwara ifata axons z'uturemangingo tw'imitsi. Izi axons zitwara ubutumwa buva mu bwonko bujya mu bindi bice by'umubiri.
• Dystrophy: "Dystrophy" ni ijambo ry'ubuvuzi risobanura gucika intege no gutakaza buhoro buhoro kw'ingingo, ingingo, n'imitsi.

Ni ayahe mazina yandi ya `(INAD)`?

Abaganga bamwe na bamwe bita iyi ndwara "indwara ya Seitelberger," izina ry'umuganga wasobanuye iyi ndwara bwa mbere mu myaka ya 1950. Ishobora kandi kwitwa `(PLA2G6-associated neurodegeneration)` cyangwa `(PLAN)`.

Ni ubuhe bwoko bw'ingenzi bwa `(INAD)`?

Indwara ya neuroaxonal dystrophy y'abana bato ni yo ikunze kugaragara cyane muri iyi ndwara. Abaganga banayita ubwoko bwa INAD busanzwe. Nk'uko izina ribigaragaza, ibimenyetso bitangira mu bwana.

Hari ubundi bwoko bw'indwara, bwitwa `(INAD idasanzwe (aNAD))`. Muri iki gihe, ibimenyetso bigaragara ku myaka 4, rimwe na rimwe ndetse no nyuma yaho, mu gihe cy'ubukure. Aba bana bashobora kugira ikibazo cyo kuvuga nabi , cyangwa bakagaragara nk'abafite `(indwara ya autism spectrum)`. Ubu bwoko bw'indwara ntibukunze kugaragara cyane.

Ni gute `(INAD)` ikunze kugaragara?

Iyi ni indwara idakunze kugaragara cyane , ishobora gufata umwana umwe mu bana ibihumbi ijana kugeza kuri miliyoni ebyiri.

Ni iyihe mpamvu yatumye habaho `(INAD)`?

Abana bafite `(INAD)` bakura impinduka (mutation) muri gene `(PLA2G6)` bivuye ku babyeyi bombi. Iyi gene ifasha gukora `(enzyme)` (ubwoko bwa poroteyine) yitwa `(A2 phospholipase)`. Iyi `(enzyme)` igabanya ubwoko bw'ibinure yitwa `(phospholipide)`. Iyo metabolism y'ibinure ikozwe neza, uturemangingo tw'imitsi tuba dufite ubuzima bwiza.

Ku bana bafite `(INAD)`, iyi gene yahinduwe ya `(PLA2G6)` ibangamira ikorwa n'imikorere y'iyo `(enzyme)`. Hanyuma, ibintu by'uruziga byitwa `(imibiri ifite spheroid)` bitangira kwinjizwa mu mitsi. Ibi bikunze kwinjizwa mu mpera z'imitsi ihuza amaso, imitsi n'uruhu. Nanone, icyuma gishobora kwinjizwa mu bwonko.

Ni nde uri mu kaga ko kurwara `(INAD)`?

Indwara ya neuroaxonal dystrophy y'abana ni indwara iterwa no kurwara indwara ya autosomal recessive. Ibi bivuze ko kugira ngo umwana agire iyi ndwara, ababyeyi bombi bagomba kubyara kopi ya gene ya PLA2G6 yahinduwe. Ababyeyi b'umwana ni bo batwara gene yahinduwe, ariko ntibazayirwara.

Tekereza, niba ababyeyi bombi ari bo batwara iyi gene yahinduwe, buri mwana bafite afite amahirwe akurikira:

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* Hari amahirwe 1 kuri 4 yo kubyara umwana muzima utarazwe gene yahinduwe.

* Hari amahirwe 1 kuri 4 yo kuvukana iyi ndwara `(INAD)`.

* Hari amahirwe 1 kuri 2 yo kutagira iyi ndwara, ariko ikaba ari yo itwara gene yahinduwe.

Ni ibihe bimenyetso by'indwara ya `(INAD)`?

Mu gihe cya INAD, umwana wawe ashobora gukura neza kuva mu mezi 6 ya mbere kugeza ku myaka 3.. Ni ukuvuga ko ibintu nko kwicara, kunyara, kugenda no kuvuga bitangira bisanzwe. Hanyuma, buhoro buhoro, ubwo buhanga bwigishijwe butangira gutakaza . Impamvu yabyo akenshi ni ugutakaza imitsi. Kubera iyo mpamvu, intege nke z'imitsi (`(hypotonia)`), bivuze umubiri urembye, zigaragara, cyane cyane mu gice cy'umubiri. Uko indwara ikomeza, imitsi irakomera (`(spasticity)`) ishobora kubaho.

Abana barwaye INAD bashobora kandi kugira ibimenyetso nk'ibi:

• `(Ataxia)` (ibibazo byo kuringaniza no guhuza ibikorwa)
• Kugorwa no kumira (dysphagia)
• Ubumuga bwo kutumva
• Kudashobora gufata umutwe ugororotse, kudashobora kugenzura umutwe
• Gutakaza ubwenge n'ubwenge, bishobora gutera indwara yo kwibagirwa
• Indwara zo mu mutwe
• Kugorwa no kuvuga bitewe n'intege nke z'imitsi (dysarthria)
• Izindi ngorane z'amaso, nka strabismus, guhindagura kw'amaso (nystagmus), cyangwa kutabona neza

Abana barwaye INAD bashobora kandi kugira imiterere yihariye mu maso igaragara igihe bavutse:

• Amaso afite uruhu (strabismus)
• Amatwi manini kandi magufi
• Agahanga kagaragara
• Izuru rito cyangwa akananwa

Indwara ya `(INAD)` ipimwa ite?

Niba hari umuntu wo mu muryango wawe ufite iyi ndwara, ikizamini cyo gupima mbere yo kubyara gishobora kumenya niba umwana yarazwe iyi mihindagurikire. Ikizamini cyitwa Chorionic Villus Sampling (CVS) gifata uturemangingo mu nyababyeyi hanyuma kikagenzura ihinduka ry’uturemangingo.

Ibi ni byo bizamini bikorerwa ku mpinja, abana, n'abantu bakuru:

• Ikizamini cy'amaraso gishakisha gene ya `(PLA2G6)` yahinduwe. Iki kizamini cy'imiterere y'umubiri gishobora kugaragaza abana 8 kuri 10 bafite `(INAD).`
• Ikizamini cya ``Electroencephalogram - EEG``` kugira ngo harebwe niba hari ibisebe.
• Isuzuma rya MRI kugira ngo harebwe impinduka mu bwonko.
• Ibizamini nka electromyogram (EMG) bipima imikorere y'imitsi.
• Isuzuma rya biopsy ni ikizamini gifata agace gato k'uruhu cyangwa uturemangingo tw'imitsi. Ibi bikorwa kugira ngo harebwe niba hari imibiri y'ibice by'umusemburo mu mitsi.

Infantile Neuroaxonal Dystrophy (INAD) ivurwa ite?

Ikibabaje ni uko nta muti uhari wo kuvura indwara y’ubwonko mu bana bato. Ubu buryo bwo kuvura bwibanda ku kugenzura ibimenyetso no gufasha umwana kumva amerewe neza uko bishoboka kose. Ubu buryo bukubiyemo:

• Imiti igabanya ububabare
• Umuyoboro wo kugaburira (indyo yo mu mutima)
• Umuti wo kuruhuka imitsi ikaze
• Imiti igabanya ububabare
• Ubuvuzi bw'umubiri n'imiterere ikwiye kugira ngo bifashe umutwe w'umwana n'imitsi ye idakomeye
• Imiti igabanya ububabare

Ni ubuhe buryo bushya bwo kuvura `(INAD)`?

Impuguke mu by'ubuvuzi zirimo gukora ubushakashatsi n'igerageza ry'ubuvuzi kugira ngo haboneke uburyo bushya bwo guhagarika ikwirakwira ry'iyi ndwara no kuyikiza. Ubu buryo bwo kuvura burimo gukorwa burimo:

• Uburyo bwo gusimbuza enzyme (butanga enzyme idahagije hanze)
• `(Ubuvuzi bw'uturemangingo)` (Ubuvuzi bw'uturemangingo)

Ese indwara `(INAD)` ishobora kwirindwa?

Niba wowe n'umukunzi wawe mwembi mufite ihinduka ry'uturemangingo ritera INAD (ni ukuvuga niba mwembi mufite ubwandu), mushobora guhura n'umujyanama mu by'uturemangingo kugira ngo muganire ku buryo bwo kwirinda ko byakwirakwira ku bana banyu. Uburyo bumwe bwitwa Preimplantation Genetic Diagnosis (PGD). Muri ibi, intanga ziremwa binyuze muri IVF (in vitro fertilization) ziratoranywa hanyuma zigashyirwa mu mura.

Ni ibihe byiringiro by'ejo hazaza ku mwana ufite `(INAD)`?

Umwana ufite `(INAD)` ashobora kugaragara nk'umwana witabira cyane kandi uhora yitonze mu myaka mike ya mbere. Ariko uko indwara ikomeza kwiyongera, ushobora kubona ko ubushobozi bw'umwana bwo kureba, kuvuga, ubushobozi bwo gukora imitsi ye, n'ubushobozi bwo gukorana n'abandi bugenda bugabanuka buhoro buhoro. Iyi ndwara ishobora no kugira ingaruka ku buryo bw'ubuhumekero . Ibi bishobora gutera indwara zo mu myanya y'ubuhumekero nka `(pneumonia)`. Abana benshi bafite `(INAD)` bapfa batarageza ku myaka 10 .

Abana bafite ubwoko budasanzwe bwa ADA batangira kugaragaza ibimenyetso hagati y'imyaka 7 na 12. Nubwo baramba kurusha abana bafite ubwoko busanzwe bwa ADA, igihe cyabo cyo kubaho nacyo kiragabanuka.

Kwita ku mwana ufite indwara ikomeye nk'iyo birasaba imbaraga zo mu mutwe no ku mubiri . Ufite kandi ibyago byo kugira ibibazo nk'imihangayiko no kwiheba. Rero, menya neza ko wasaba ubufasha, ufata umwanya wawe, kandi ugerageze kwishimira utuntu duto dutuma ugira ibyishimo hamwe n'umuryango wawe .

Ni ryari ukwiye kujya kwa muganga?

Shaka muganga niba umwana wawe afite kimwe muri ibi bimenyetso:

• Ibibazo byo kuringaniza, kugenda, cyangwa kugenda
• Guhumeka bigoranye
• Kunanirwa kw'imitsi cyangwa kunyaragurika
• Kugorwa no kuvuga cyangwa kumira
• Ibibazo byo kureba cyangwa kumva

Ni ibihe bibazo ugomba kubaza muganga wawe?

Ni byiza kubaza muganga wawe ibintu nk'ibi:

• Ni ubuhe bwoko bwa `(INAD)` umwana wanjye afite?
• Ni ubuhe buryo bwo kuvura bwafasha?
• Ni iki twakora mu rugo kugira ngo tugabanye ibimenyetso?
• Ni bande baganga tugomba guhura nabo?
• Ese abandi bo mu muryango wanjye bagomba gupimwa iyi mihindagurikire y’uturemangingo?
• Ni izihe ngorane ngomba kwitondera?

Amaherezo, icyo ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Kumenya ko umwana wawe afite indwara idakira nka Infantile Neuroaxonal Dystrophy (INAD) ni ikintu gihindura ubuzima bwe. Iyi ndwara yo kubika ibinure mu mubiri igira ingaruka ku bushobozi bw'umwana wawe bwo kugenda, kubona, kurya no kuvuga. Nubwo ibimenyetso bishobora gukemurwa kandi umwana wawe agashobora kumererwa neza, nta muti uraboneka . Ariko, ubushakashatsi bushya n'igeragezwa ry'ubuvuzi ririmo gukorwa . Niba ufite ihinduka ritera INAD (umurwayi), vugana na muganga wawe ku buryo bwo kugabanya ibyago byo kuyitera ku babyeyi be. Ntukigere ubyikorera wenyine, shaka ubufasha ukeneye .

INAD , indwara yo mu bwonko bw'incuke, indwara yo kubika ibinure mu mubiri, indwara y'uturemangingo, indwara zidasanzwe, ubuzima bw'umwana, kwangirika kw'imitsi, indwara z'uturemangingo, indwara zidasanzwe, ubuzima bw'umwana