Omwana wo omuto alina obuzibu mu kuwulira n’ennyindo? Ka tuyige ku bulwadde bwa Pendred Syndrome!

Omwana wo omuto tawuubaala olw’amaloboozi amangi? Oba tatunula mabega ng’erinnya lye liyitibwa? Oluusi, emabega w’ebintu bino, wayinza okubaawo embeera y’obuzaale etali ya bulijjo gye tutalowoozaako wadde. Ekyo kye kiyitibwa Pendred Syndrome . Tofaayo, leero kino tugenda kukyogerako mu ngeri ennyangu, mu ngeri gy’osobola okutegeera.

Obulwadde bwa Pendred Syndrome kye ki?

Mu ngeri ennyangu, obulwadde bwa Pendred Syndrome mbeera ya buzaale etali ya bulijjo . Mu mbeera eno, omwana wo ayinza okuzaalibwa ng’alina obuzibu bw’okuwulira obw’olubeerera. Okubulwa amatu kuno kutera okukosa amatu gombi era kuyinza okweyongera okumala ekiseera. Okugatta ku ekyo, abaana n’abavubuka abakulu abalina obulwadde bwa Pendred Syndrome bayinza okulwala ekirwadde kya goiter , nga kino kye kitundu ky’omubiri ekiyitibwa thyroid gland ekigazi mu bulago. Oluusi, naye nga si bulijjo nnyo, ekizimba kino era kisobola okuleeta endwadde ya thyroid obutakola bulungi (hypothyroidism).

Teebereza engeri gye kiteekwa okuba ekizibu okuzuula nti omwana wo alina embeera eno. Naye ekisinga obukulu si kusattira . Omusawo ajja kukuyamba okuddukanya embeera eno n’okufuga obubonero bw’omwana wo nga bwe kisoboka. Era bajja kukubuulira ku byuma ebiyamba okuwulira ebisaanira omwana wo, wamu n’obukodyo bw’empuliziganya. Olwo obuzibu bw’okuwulira tebujja kuba kizibu kinene eri omwana wo obukugu mu lulimi n’okuyiga.

Bubonero ki obulaga obulwadde bwa Pendred syndrome?

Akabonero akakulu era akasinga okweyoleka mu mbeera eno kwe kubulwa okuwulira . Obunene bw’okufiirwa kuno buyinza okwawukana okusinziira ku muntu. Abaana abamu basobola okuba n‟obuzibu bw‟okuwulira obutono oba obw‟amaanyi (obutawulira). Ng’ekyokulabirako, omwana alina obuzibu bw’okuwulira obw’ekigero ayinza okuwulira abantu nga boogera naye nga tasobola kutegeera bye boogera.

Ebiseera ebisinga, obuzibu buno obw’okuwulira bubaawo ng’azaalibwa, naye oluusi buyinza okulabika ng’akyali muwere, mu buto oba n’oluvannyuma.

Obubonero bw’okubulwa okuwulira obuva ku bulwadde bwa Pendred syndrome buyinza okuli:

• Omwana omuto tawuubaala ne bw’awulira eddoboozi ery’omwanguka.
• Omwana bw’ayitiddwa amannya taddamu.
• Omwana ono tannayogera kigambo kye ekisoose mu kumpi omwaka mulamba.
• Okutandika okwogera oluvannyuma okusinga abaana abalala ab’emyaka gye gimu.
• Omwana buli kiseera akusaba "okuddamu okwogera ekyo."

Ng’oggyeeko ebizibu bino eby’okuwulira, wayinza okubaawo obubonero obulala obuwerako:

• Ensonga z’okutebenkeza ng’otambula - okugeza, okutwala akaseera okutandika okutambula. Kyokka kino tekituuka ku buli muntu era tekitera kubaawo.
• Goiter - Kino kisinga kulabibwa ng’omwana akuze katono, kwe kugamba, mu myaka gy’obuvubuka oba ng’akyali muto.
• Hypothyroidism - Eno nayo mbeera ya bbula nnyo.

Lwaki obulwadde buno obwa Pendred syndrome bubaawo?

Ekisinga okuvaako obulwadde bwa Pendred syndrome y’enkyukakyuka mu buzaale mu buzaale obuyitibwa `SLC26A4` . Ensengekera eno eyamba omubiri gwaffe okukola puloteyina eyitibwa `pendrin` . Pendrin eno ekwatagana n’okuwulira kwaffe n’enkola y’endwadde ya thyroid. Obadde okimanyi nti endwadde ya thyroid ekola obusimu obufuga engeri omubiri gwaffe gye gukozesaamu amaanyi (metabolism).

Kale, bwe wabaawo ekizibu ku puloteyina eno eya pendrin, ensengekera mu kutu kw’omwana okw’omunda ezikwatagana n’okuwulira ziyinza obutakula bulungi . Kino kye kireeta embeera eyitibwa sensorineural hearing loss . "Sensorineural" kitegeeza nti okubulwa okuwulira kuno kwa lubeerera era kuva ku buzibu mu kutu okw'omunda kwennyini. Ebizibu bino biyinza okuli:

• Enlarged Vestibular Aqueducts (EVAs) : Emikutu gyo egy’amazzi egy’omu lubuto (vestibular aqueducts) buba buyumba butono obw’amagumba obuyunga okutu kwo okw’omunda ku kiwanga. Abantu bangi abalina emikutu gy’amazzi egya vestibular aqueducts egyagaziwa bafuna obuzibu mu kuwulira.
• A cochlea erimu "okukyuka" okutono okusinga okwa bulijjo : Cochlea kye kitundu ekisinga munda mu nkola yaffe ey'okuwulira. Kiba kizimbe ekiriko enkokola, ng’ekikuta ky’ensenene. Mu budde obutuufu erina enkyukakyuka 2 ne 3/4. Omwana alina obulwadde bwa Pendred syndrome ayinza okuba n’enkyukakyuka entono mu koyilo eno okusinga omuntu owa bulijjo. Kino nakyo kikwatagana n’okubulwa amatu.

Ate era nga bwe nnagambye emabegako, pendrin nayo ekosa engeri endwadde ya thyroid gy’ekola. Kale, bwe wabaawo obuzibu ku nseke ya thyroid, esobola okuzimba (goiter) n’etekola busimu bumala.

Obulwadde bwa Pendred syndrome busikira butya omwana?

Kino kiyinza okulabika ng’ekizibu katono okukitegeera, naye ka nkiteeke mu ngeri ennyangu. Omwana alina obulwadde bwa Pendred syndrome asikira engeri eno mu ngeri ya autosomal recessive pattern . Okay, kino kiwulikika nga kizibu katono, si bwe kiri? Mu ngeri ennyangu, kiri bwe kiti:

Omwana okusobola okulaga obubonero buno, alina okusikira kkopi bbiri ez’enkyukakyuka eno ey’obuzaale – emu okuva ku nnyina ate endala okuva ku kitaawe.

Mu mbeera eno, abazadde bombi be basitula obuzaale obukyusiddwa. Kwe kugamba, zombi zirina obuzaale bumu obukyusiddwa n’obuzaale bumu obwa bulijjo. Olw’obuzaale obwo obwa bulijjo, abazadde tebafuna bulwadde bwa Pendred syndrome. Wabula bwe bazaala omwana, emikisa nga 25% nti omwana ajja kufuna embeera eno. Kilowoozeeko ng’okufuumuula ssente bbiri zombi ne zijja waggulu emitwe.

Obulwadde bwa Pendred syndrome buzuulibwa butya?

By’olina okukola okukebera abaana abaakazaalibwa oba tebalina buzibu mu kuwuliraOkukebera okuwulira kutera kukolebwa mu malwaliro. Singa okukebera okuwulira kulaga nti omuntu tawulira bulungi, kyetaagisa okukeberebwa okulala okukakasa nti omuntu azuuliddwa. Olwo lwokka okukeberebwa okusingawo okwetongodde okukolebwa okukebera oba waliwo obulwadde bwa Pendred syndrome. Oba, bw’oteebereza nti omwana wo alina obuzibu mu kuwulira, osobola okulaba omusawo. Mu kiseera kino, kirabika ojja kulaba omusawo w’amatu (ENT) oba omukugu mu by’obuzaale .

Omusawo ajja kukubuuza ebibuuzo ebikwata ku buzibu bw’omwana wo mu kuwulira. Okugeza ddi lwe wasooka okukiraba era oba waliwo omuntu yenna mu maka go eyabadde n’obuzibu mu kuwulira emabegako. Okuva bwe kiri nti obulwadde bwa Pendred buva ku nsikirano, kisoboka okuba ng’omuntu mu maka go naye yabufuna.

Bino bye bigezo ebiyamba okuzuula obulwadde bwa Pendred syndrome:

• Okukebera okuwulira : Mu bino mulimu okukebera nga Otoacoustic Emissions (OAE) ne Auditory Brainstem Response (ABR) . Bino bitunuulira enkola y’okutu okw’omunda n’amakubo g’okuwulira. Omwana bw’agenda akula, okukeberebwa okulala kuyinza okukolebwa okulaba oba obuzibu bw’okuwulira bukyuka.
• Imaging scans : CT scan oba MRI scan ekolebwa okunoonya ebizimbe ebitali bya bulijjo mu kutu okw’omunda. Okugeza, sikaani zino zisobola okunoonya emikutu gy’amazzi egya vestibular aqueducts egyagaziye (EVAs) oba cochlea etali ya bulijjo.
• Okukebera obuzaale : Okukebera omusaayi okukebera oba waliwo enkyukakyuka y’obuzaale bwa SLC26A4 kuyinza okukakasa okuzuula obulwadde buno.

Omwana wo bw’aba alina obulwadde bwa goiter, ayinza n’okulaba omusawo w’endwadde z’omu lubuto okukebera oba alina obuzibu mu thyroid.

Obulwadde bwa Pendred syndrome bujjanjabwa butya?

Mu butuufu, tewali ddagala liwonya bulwadde bwa Pendred syndrome n’okutuusa kati . Kyokka, waliwo engeri nnyingi ez’okuddukanya embeera eno. Obujjanjabi businziira ku bintu bingi, gamba ng’ebintu ebitali bya bulijjo ebibeera mu kutu kw’omwana okw’omunda n’engeri okubulwa okuwulira gye kuli okw’amaanyi.

Enkola z’obujjanjabi bw’obulwadde bwa Pendred syndrome:

• Enkola y‟okusomesa n‟empuliziganya: Omwana yeetaaga okuyambibwa okuyiga engeri endala ez‟okuwuliziganya n‟okukolagana n‟abalala, so si kuwulira kwokka. Ng’ekyokulabirako, ebintu ng’olulimi lwa bakiggala.
• Ebyuma ebiyamba okuwulira : Ebyuma ebiyamba okuwulira oba ekintu ekiteekebwa mu matu okuyamba omwana wo okuwulira obulungi.Yee, kiyinza okwetaagisa. Ebyuma bino biwa obuyambi obw’amaanyi, waakiri omwana atandika okuwulira amaloboozi. Omusawo w’amatu n’omukugu mu by’amatu, ennyindo n’emimiro bakolera wamu okuteesa ku tekinologiya w’okuwulira asinga okusaanira omwana.
• Obujjanjabi bwa thyroid : Singa omwana wo aba n’ekibumba ekitali kya maanyi (hypothyroidism), ayinza okwetaaga okumira empeke z’obusimu bwa thyroid (thyroid supplements). Singa ekizimba kiba kinene nnyo, kiyinza okwetaagisa okulongoosebwa (thyroidectomy).

Omwana wange bw’aba alina obulwadde bwa Pendred syndrome, kiki kye nsuubira?

Mu mbeera ezisinga ez’obulwadde bwa Pendred syndrome , okubulwa amatu kweyongera mpolampola (okubulwa amatu okugenda mu maaso) . Abaana abamu bayinza okubulwa ddala okuwulira kwabwe okumala ekiseera. Kyokka, obuzibu bwa kino bwawukana okusinziira ku muntu. Abaana bangi bakozesa obuuma obuyamba okuwulira oba ebyuma ebiteekebwa mu matu okusobola okutuuka ku kuwulira okumpi okwa bulijjo n’okubeera obulungi. Ttiimu y’abasawo b’omwana wo ejja kukuwa amagezi ku bujjanjabi obusinga obulungi okuyamba omwana wo okuwulira.

Ekisinga obukulu kwe kuzuula embeera eno n’otandika okujjanjaba amangu ddala nga bwe kisoboka. Mu ngeri eno, omwana asobola okuyiga engeri y’okuwuliziganya n’abalala n’okukulaakulana n’abaana abalala ab’emyaka gye.

Obulwadde bwa Pendred syndrome bulwadde bwa bulamu bwonna. Kyokka tekitegeeza nti omwana tajja kusobola kutegeera balala oba okwogera ebirowoozo byabwe.

Nnalabirira ntya omwana wange?

Omwana wo bw’aba alina obulwadde bwa Pendred syndrome, kikulu okumukuuma obutafuna buvune ku mutwe, ng’omwana omulala yenna . Okugeza, okwambala enkoofiira ng’ovuga ddigi kiyinza okuyamba okukendeeza ku bulabe bw’okubulwa amatu mu bwangu olw’obuvune ku mutwe mu kabenje. Ebintu ebitonotono nga bino bisobola okuleeta enjawulo nnene.

Ddi lwe nnina okulaba omusawo?

Ka tuteeke ku bbali oba ekivaako bulwadde bwa Pendred oba kirala. Bw’olaba enkyukakyuka oba obuzibu bwonna mu kuwulira kw’omwana wo, mazima ddala wandibadde olaba omusawo. Kubanga gy’okoma okuzuulibwa amangu, gy’okoma okuddukanya amangu obuzibu bw’okuwulira n’otandika obujjanjabi. Ekyo kikulu nnyo mu biseera by’omwana eby’omu maaso.

Bibuuzo ki bye nnina okubuuza omusawo w’omwana wange?

Bw’ogenda okulaba omusawo, beera mwetegefu okubuuza ebibuuzo nga bino:

• Ani agenda okubeera ku ttiimu y’abasawo ejjanjaba omwana wange? (e.g. omusawo w’amatu, omusawo w’amatu, omusawo w’obuzaale)
• Bubonero ki obulaga nti okuwulira kw’omwana wange kweyongera okusajjuka?
• Bujjanjabi ki bw’oyinza okukozesa?
• Enteekateeka ki gy’oteesa ku bujjanjabi?
• Biki ebirala ebiyinza okwonoona okuwulira kw’omwana wange? (e.g. amaloboozi amangi, emizannyo egimu)
• Bikozesebwa ki ebiriwo okuyamba abaana n‟abazadde okugumira obuzibu bw‟okuwulira mu buto? (e.g., empeereza y‟okubuulirira, ebibiina ebiwagira)

Omwana alina obulwadde bwa Pendred syndrome, ayinza okubulwa obusobozi bw’okuwulira amaloboozi agamuyamba okukwatagana n’ebintu ebimwetoolodde. Kyokka kino tekitegeeza nti omwana alina okwewala enkolagana zino emirembe gyonna. Ebikozesebwa mu kuwulira bisobola okuyamba ennyo abaana bangi abalina embeera eno. Okuyiga obukugu mu mpuliziganya ng’akyali muto kiyinza okuyamba omwana wo okubeera n’abantu abalala, ne bw’aba alemeddwa okuwulira atya. Ttiimu y’ebyobulamu by’omwana wo ejja kusobola okwogera naawe ku mitendera ggwe n’ab’omu maka go gye muyinza okuyitamu okuyamba omwana wo. Mugume, si ggwe wekka!

Ebintu ebikulu by'olina okujjukira (Take-Home Message)

• Obulwadde bwa Pendred Syndrome mbeera ya buzaale okusinga ereeta okubulwa amatu n’oluusi otitis media.
• Okuzuula amangu n’okujjanjaba kikulu nnyo. Kino kiyinza okutumbula ennyo omutindo gw’obulamu bw’omwana.
• Wadde nga tewali ddagala, waliwo engeri y’okubuddukanyaamu. Mu bino mulimu obuuma obuyamba okuwulira, obujjanjabi bw’okwogera, era bwe kiba kyetaagisa, obujjanjabi bwa thyroid.
• Kikulu nnyo okuwa omwana okwagala, okumuwagira, n’okumuzzaamu amaanyi. Nga ogoberera amagezi g’abasawo, yamba omwana okubeera n’obulamu obwa bulijjo era obw’essanyu.
• Kuuma omwana wo obutafuna buvune ku mutwe. Kino kijja kukendeeza ku mikisa gy’okubulwa okuwulira okweyongera.

Bw’oba ​​olina ekibuuzo ekirala kyonna ku nsonga eno, totya kwogera na musawo wo. Bulijjo beetegefu okukuyamba.

` Pendred syndrome, obutawulira bulungi, tonsillitis, endwadde z'obuzaale, obulamu bw'abaana, obuuma obuyamba okuwulira, thyroid