Omwana wo omuto alina obulwadde buno obutatera kulabika? (Infantile Neuroaxonal Dystrophy - INAD) Kino tukimanye!

Leero tugenda kwogera ku mbeera etali ya bulijjo abazadde bangi gye batawulirangako, naye nga ekosa abaana. Kiyitibwa `(Infantile Neuroaxonal Dystrophy)` oba `(INAD)` mu bufunze. Wadde erinnya lino liyinza okuwulikika ng’eritiisa katono, kikulu nnyo okulimanya. Kubanga bw’olaba enkyukakyuka yonna mu mwana wo omuto, olina okugenda mu basawo amagezi mu bwangu.

`(Obulwadde bw'obusimu bw'abaana abawere - INAD)` kye ki? Ka tukitegeere mu ngeri ennyangu!

Mu ngeri ennyangu, `(INAD)` bulwadde obutatera kulabika nnyo, obw’obuzaale obukosa enkola yaffe ey’obusimu. Ekibaawo mu kino kiri nti ekika ky’amasavu, ekiyitibwa `(lipids),` kizimba mu butoffaali bw’obusimu mu ngeri eteetaagisa. Kilowoozeeko ng’emiguwa egitambuza obubaka mu mibiri gyaffe. Amasavu bwe gakuŋŋaana mu waya zino, obubaka obwo tebutambula bulungi.

Kiki ekibaawo olwo?

Kino kireetera omwana okubulwa obuyinza ku binywa , obutalaba bulungi , okukaluubirirwa okwogera , n'okulemererwa okukula kw'amagezi . Ebiseera ebisinga, obubonero buno bulabika mu baana abawere (nga tebannaweza myaka 3). Kyokka oluusi obubonero buno busobola okulabika oluvannyuma katono, kwe kugamba, mu myaka gy’obuvubuka.

Buno bulwadde obubeera mu kiti kya `(lipid storage disorder).` Kwe kugamba, embeera ebaawo olw'okutereka amasavu mu mubiri. Ebyembi, n’okutuusa kati tewannabaawo ddagala lijjuvu eriwonya bulwadde buno obutta obulamu obuyitibwa `(INAD).`

`(Obuzibu mu kutereka amasavu)` kye ki?

Obuzibu bw’okutereka amasavu kibinja kya ndwadde ezibeera mu kiti ky’obuzibu obusikira mu nkyukakyuka y’emmere. Mu ngeri ennyangu, zikosa metabolism yaffe , enkola mwe tukyusa emmere gye tulya okugifuula amaanyi ne tumalawo ebisasiro mu mibiri gyaffe.

Lipids bintu bya masavu ebisangibwa mu butoffaali bwaffe naddala mu kikuta kya myelin ekibikka obusimu mu bwongo n’omugongo. Zikulu nnyo eri obusimu bwaffe . Abantu abalina obuzibu mu kutereka amasavu, amasavu gano gaterekeddwa mu mibiri gyabwe mu kifo ky’okukozesebwa obulungi.

Obuzibu mu kutereka amasavu nga INAD ndwadde ezigenda zikula . Kwe kugamba, amasavu bwe gakuŋŋaanyizibwa mu mubiri, obubonero bweyongera mpolampola.

Erinnya "Infantile Neuroaxonal Dystrophy" litegeeza ki?

Okutegeera ebigambo ebiri mu linnya lino kijja kuyamba okunnyonnyola obulwadde buno katono:

• Omwana omuwere: `(INAD)` mbeera ebeerawo nga bazaalibwa (`(obulwadde obuzaalibwa)`). Obubonero butera okulabika mu baana abawere, nga tebannaweza myaka 3.
• Neuroaxonal: Obulwadde buno bukosa axons z’obutoffaali bw’obusimu. Axons zino zitwala obubaka okuva mu bwongo okutuuka mu bitundu by’omubiri ebirala.
• Dystrophy: ``Dystrophy'' lye linnya ly'obusawo eritegeeza okunafuwa mpolampola n'okwonooneka kw'ebitundu by'omubiri, ebitundu by'omubiri, n'ebinywa.

Amannya ki amalala aga `(INAD)`?

Abasawo abamu era obulwadde buno babuyita "Seitelberger's disease," erinnya ly'omusawo eyasooka okunnyonnyola obulwadde buno mu myaka gya 1950. Era kiyinza okuyitibwa `(PLA2G6-associated neurodegeneration)` oba `(PLAN)`.

Bika ki ebikulu ebya `(INAD)`?

Infantile neuroaxonal dystrophy ye ngeri esinga okutawaanya obulwadde buno. Abasawo era bagiyita enkola ya INAD eya kalasi. Nga erinnya bwe liraga, obubonero butandikira mu buwere.

Waliwo ekika ekirala, ekiyitibwa `(atypical INAD (aNAD))`. Mu mbeera eno, obubonero bulabika ku myaka nga 4, oluusi n’oluvannyuma, mu myaka emito. Abaana bano bayinza okuba nga balwawo okwogera , oba bayinza okulabika nga balina `(autism spectrum disorder)`. Obulwadde obw’ekika kino tebutera kubeerawo.

`(INAD)` ya bulijjo etya?

Buno bulwadde bwa bbula nnyo , nga bukwata mpozzi omu ku baana omutwalo kikumi okutuuka ku bukadde bubiri.

Ensonga ki eyavaako okutondebwawo kwa `(INAD)`?

Abaana abalina `(INAD)` basikira enkyukakyuka (mutation) mu gene `(PLA2G6)` okuva mu bazadde bombi. Ensengekera eno eyamba okukola `(enzyme)` (ekika kya puloteyina) eyitibwa `(A2 phospholipase)`. `(enzyme)` eno emenya ekika ky'amasavu ekiyitibwa `(phospholipids)`. Enkyukakyuka y’amasavu bw’ekolebwa obulungi, obutoffaali bw’obusimu buba bulamu bulungi.

Mu baana abalina `(INAD)`, kino ekikyusiddwa `(PLA2G6)` gene kyonoona okukola n'enkola ya `(enzyme)` eyo. Olwo, ebintu ebyekulungirivu ebiyitibwa `(emibiri egy’enkulungo)` bitandika okuteekebwa mu busimu. Bino bitera okuteekebwa mu nkomerero z’obusimu ezikwatagana n’amaaso, ebinywa n’olususu. Ate era, ekyuma kisobola okuteekebwa mu bwongo.

Ani ali mu bulabe bw'okulwala `(INAD)`?

Obuzibu bw’obusimu bw’abaana abawere (Infantile neuroaxonal dystrophy) bulwadde bwa autosomal recessive disorder. Kino kitegeeza nti omwana okusobola okufuna obulwadde buno, abazadde bombi balina okusikira kkopi y’obuzaale bwa PLA2G6 obukyusiddwa. Olwo bazadde b’omwana be basitula obuzaale obukyusiddwa, naye tebajja kufuna bulwadde buno.

Teebereza, singa abazadde bombi baba basitula obuzaale buno obukyuse, buli mwana gwe bazaala alina emikisa gino wammanga:

>

* Waliwo emikisa 1 ku buli 4 egy’okuzaala omwana omulamu obulungi nga tosikira buzaale obukyusiddwa.

* Waliwo emikisa 1 ku buli 4 okuzaalibwa n'obulwadde `(INAD)`.

* Emikisa 1 ku buli 2 egy’obutaba na bulwadde buno, wabula okuba nga ye mutambuza w’obuzaale obukyusiddwa.

Bubonero ki obw'obulwadde bwa `(INAD)`?

Mu mbeera ya INAD eya classic, omwana wo ayinza okukula mu ngeri eya bulijjo okuva ku myezi 6 egisooka okutuuka ku myaka nga 3 egy’obukulu.. Kwe kugamba, ebintu ng’okutuula, okwekulukuunya, okutambula, n’okwogera bitandika mu ngeri eya bulijjo. Olwo mpolampola, obukugu buno bwe bayize butandika okubula . Ensonga lwaki kino kitera okubaawo kwe kwonoona ebinywa. N’ekyavaamu, obunafu bw’ebinywa (`(hypotonia)`), ekitegeeza omubiri ogugonvu, bulabibwa naddala mu kitundu ky’omugongo. Obulwadde bwe bugenda bweyongera, okukaluba kw’ebinywa (`(spasticity)`) kuyinza okubaawo.

Abaana abalina INAD nabo bayinza okufuna obubonero nga:

• `(Ataxia)` (ebizibu mu bbalansi n'okukwasaganya entambula) .
• Okukaluubirirwa okumira (dysphagia) .
• Obuzibu mu kuwulira
• Obutasobola kukwata mutwe nga gugoloddwa, obutasobola kufuga mutwe
• Okufiirwa okujjukira n’amagezi, ekiyinza okukulaakulana okutuuka ku bulwadde bw’okubulwa amagezi
• Okukonziba
• Okukaluubirirwa okwogera olw’obunafu bw’ebinywa (dysarthria) .
• Ebizibu ebirala eby’amaaso, gamba ng’okuzimba amaaso, okunyiga amaaso (nystagmus), oba obutalaba bulungi

Abalongo abalina INAD nabo bayinza okuba n’ebintu ebimu eby’enjawulo mu maaso ebirabika nga bazaalibwa:

• Amaaso agasalagana (strabismus) .
• Amatu amanene, agateekeddwa wansi
• Ekyenyi ekifulumye
• Ennyindo oba ekirevu ekitono

Obulwadde bwa `(INAD)` buzuulibwa butya?

Singa omuntu mu maka go alina obulwadde buno, okukeberebwa nga tannazaalibwa kuyinza okuzuula oba omwana asikira enkyukakyuka eno. Ekigezo ekiyitibwa Chorionic Villus Sampling (CVS) kiggya obutoffaali mu nnabaana ne kikebera oba waliwo enkyukakyuka mu buzaale.

Bino bye bigezo ebikolebwa ku baana abawere, abaana n’abantu abakulu:

• Okukebera omusaayi okunoonya obuzaale obukyusiddwa `(PLA2G6)`. Okukebera kuno okw’obuzaale kusobola okuzuula abaana 8 ku 10 abalina `(INAD).`
• Okukebera ``Electroencephalogram - EEG`` okunoonya okukonziba.
• MRI scan okulaba enkyukakyuka mu bwongo.
• Ebigezo nga electromyogram (EMG) ebipima emirimu gy’obusimu.
• Okukebera omubiri (biopsy) kwe kukebera okutwala akatundu akatono ak’olususu oba obusimu. Kino kikolebwa okukebera oba waliwo emibiri gya spheroid mu axons.

Obulwadde bwa Infantile Neuroaxonal Dystrophy (INAD) bujjanjabwa butya?

Ebyembi, tewali ddagala lya Infantile Neuroaxonal Dystrophy. Obujjanjabi obuliwo kati essira balitadde ku kufuga bubonero n’okuyamba omwana okubeera nga yeeyagaza nga bwe kisoboka. Obujjanjabi buno mulimu:

• Eddagala eriweweeza ku kuzimba
• Tubu y’okuliisa (endya y’omu lubuto) .
• Eddagala okuwummuza ebinywa ebinywezeddwa
• Eddagala eriweweeza ku bulumi
• Obujjanjabi bw’omubiri n’enyimirira entuufu okuwanirira omutwe gw’omwana n’ebinywa ebinafu
• Eddagala eriweweeza ku bulwadde

Bujjanjabi ki obupya obukoleddwa ku `(INAD)`?

Abakugu mu by’obujjanjabi bakola okunoonyereza n’okugezesa mu malwaliro okunoonya engeri empya ez’okukomya okusaasaana kw’obulwadde buno era nga kiyinzika okubuwonya. Obujjanjabi obugenda mu maaso mu kiseera kino mulimu:

• Obujjanjabi bw’okukyusa enziyiza (okuwa enziyiza ebula ebweru) .
• `(Obujjanjabi bw'obuzaale)` (Obujjanjabi bw'obuzaale)

Obulwadde `(INAD)` busobola okuziyizibwa?

Singa ggwe ne munno mwembi mulina enkyukakyuka y’obuzaale ereeta INAD (kwe kugamba, bwe muba nga mwembi muli basitula), musobola okusisinkana omukugu mu kubudaabuda obuzaale ne boogera ku ngeri y’okugitangira okuyisibwa mu baana bo. Enkola emu eyitibwa Preimplantation Genetic Diagnosis (PGD). Mu kino, embuto ezitondebwa nga ziyita mu IVF (in vitro fertilization) zisunsulwa ne ziteekebwa mu nnabaana.

Biki ebisuubirwa mu biseera eby'omu maaso eri omwana alina `(INAD)`?

Omwana alina `(INAD)` ayinza okulabika ng'omwana addamu nnyo era ali bulindaala mu myaka egisooka. Naye obulwadde bwe bugenda bweyongera, oyinza okukiraba nti okulaba kw’omwana, okwogera, obusobozi bw’okukolagana n’abalala bikendeera mpolampola. Obulwadde buno era busobola okukosa enkola y'okussa . Kino kiyinza okuvaako endwadde z’okussa nga `(pneumonia)`. Abaana abasinga abalina `(INAD)` bafa nga tebannaweza myaka 10 .

Abaana abalina ekika ekitali kya bulijjo (aNAD) batandika okufuna obubonero wakati w’emyaka 7 ne 12. Wadde nga bawangaala okusinga abaana abalina ekika ekya bulijjo (INAD), n’obulamu bwabwe bukendeera.

Okulabirira omwana alina obulwadde obw'amaanyi bwe butyo kizibu nnyo mu birowoozo ne mu mubiri . Era oli mu bulabe bw’okufuna ebizibu nga situleesi n’okwennyamira. N’olwekyo, kakasa nti osaba obuyambi, weefunira obudde, era fuba okufuna essanyu mu bintu ebitonotono ebikuleetera essanyu n’ab’omu maka go .

Ddi lw’osaanidde okulaba omusawo?

Laba omusawo singa omwana wo alina obubonero buno:

• Obuzibu mu bbalansi, okutambula oba okutambula
• Okukaluubirirwa okussa
• Okunafuwa kw’ebinywa oba okunyiganyiga
• Okukaluubirirwa okwogera oba okumira
• Obuzibu mu kulaba oba okuwulira

Bibuuzo ki by’osaanidde okubuuza omusawo wo?

Kirungi okubuuza omusawo wo ku bintu nga:

• Omwana wange alina kika ki ekya `(INAD)`?
• Bujjanjabi ki obuyinza okuyamba?
• Kiki kye tuyinza okukola awaka okukendeeza ku bubonero?
• Baani abakugu mu by’obujjanjabi be tusaanidde okusisinkana?
• Ab’omu maka gange abalala basaanidde okukeberebwa oba tebalina nkyukakyuka eno ey’obuzaale?
• Bizibu ki bye nnina okwegendereza?

N’ekisembayo, by’olina okujjukira (Obubaka bw’okutwala awaka) .

Okuzuula nti omwana wo alina obulwadde obutawona nga Infantile Neuroaxonal Dystrophy (INAD) kikyusa obulamu. Obuzibu buno obw’okutereka amasavu bukosa obusobozi bw’omwana wo okutambula, okulaba, okulya n’okwogera. Wadde ng’obubonero busobola okuddukanyizibwa n’omwana wo n’asobola okweyagaza, n’okutuusa kati tewali ddagala ddagala . Kyokka, okunoonyereza okupya n’okugezesa mu malwaliro bigenda mu maaso . Bw’oba ​​olina enkyukakyuka ereeta INAD (a carrier), yogerako n’omusawo wo ku ngeri gy’oyinza okukendeeza ku bulabe bw’okugiyisa mu milembe egijja. Togendangako wekka, funa obuyambi bwe weetaaga .

` INAD, infantile neuroaxonal dystrophy, lipid storage disorder, obuzibu mu buzaale, obulwadde obutatera kulabika, obulamu bw’abaana, okuvunda kw’obusimu, endwadde z’obuzaale, endwadde ezitatera kulabika, obulamu bw’abaana