Omwana wo alina ebizibu bino? Ka twogere ku bulwadde bwa Barth Syndrome!

Kizibu okuteeka mu bigambo enneewulira enzito ze tuwulira ng’abazadde ng’abaana baffe abato balwadde, si bwe kiri? Naddala bwe kiba embeera etali ya bulijjo era enzibu, okutya mu mitima gyaffe kweyongera. Leero tugenda kwogera ku mbeera eno etali ya bulijjo, naye kikulu nnyo buli muntu okugimanya. Kino kiyitibwa obulwadde bwa Barth Syndrome.

Obulwadde bwa Barth Syndrome kye ki? Ka tukitegeere mu ngeri ennyangu!

Mu ngeri ennyangu, obulwadde bwa Barth embeera y’obuzaale etali ya bulijjo nnyo . Kisinga kulabibwa mu balenzi . Embeera eno esobola okukosa ebitundu ebikulu ebiwerako eby’omubiri gw’omwana. Ebikulu bye bino:

• Obusigo bw’amagumba
• Omutima
• Enkola y’abaserikale b’omubiri
• Ebinywa

Lowooza ku kino, omubiri gwaffe gulinga ekyuma ekizibu ennyo nga kirimu ebitundu bingi ebikolagana. Kale ebitundu ebikulu ebiwerako bwe bikosebwa, enkula y’omwana eya bulijjo n’obulamu bwe bisobola okukosebwa mu ngeri ezitali zimu.

Abawala tebafuna bulwadde bwa Barth syndrome?

Kino kizibu abantu bangi kye balina. Mu butuufu, emikisa gy’omuwala okulwala obulwadde bwa Barth syndrome mitono nnyo . Ebiseera ebisinga abawala abatambuza enkyukakyuka y’obuzaale ereeta obulwadde buno tebalaga bubonero. Bayitibwa "abasitula." Kino kitegeeza nti tebalina bulwadde buno, wabula basobola okuyisa obuzaale mu baana baabwe. Mu ngeri endala, omulenzi atera okusikira obulwadde buno.

Embeera eno ya bulijjo etya?

Obulwadde bwa Barth syndrome mbeera etali ya bulijjo nnyo . Okusinziira ku bibalo, embeera eno esangibwa mu baana nga omu ku buli 300,000 abazaalibwa. N’olwekyo oyinza obutawulira bingi ku nsonga eyo. Naye wadde nga tekitera kubaawo, kikulu nnyo okukimanya.

Kiki ekivaako obulwadde bwa Barth syndrome?

Ekisinga okuvaako kino kwe kukyuka mu buzaale obuyitibwa Tafazzin (TAZ) . Ensengekera eno eyitibwa TAZ esangibwa ku X chromosome. Nga bw’omanyi, X chromosome kintu ekirina kinene kye kikwata ku nkula y’omubiri.

Omu ku mirimu emikulu egy’obuzaale bwa TAZ kwe kulungamya okukola puloteyina eyeetaagibwa mitochondria , obuuma obutonotono obw’amasannyalaze munda mu butoffaali bwaffe obukola amaanyi. Mitochondria zino nazo zeenyigira mu kukula kw’amagumba.

Kale, bwe wabaawo enkyukakyuka mu ggiini ya TAZ, puloteyina gy’ekola tekola bulungi. Kino kitegeeza nti mitochondria tezirina maanyi gamala, oba "amafuta," okukola. N’ekyavaamu, ebitundu ebyetaaga amaanyi amangi —ng’omutima, ebinywa, n’abaserikale b’omubiri —tebisobola kukola bulungi. Eno y’ennyinyonnyola enkulu ey’ebiramu ku bulwadde bwa Barth syndrome.

Bubonero ki obulaga obulwadde bwa Barth syndrome?

Obubonero bw’obulwadde bwa Barth syndrome buyinza okwawukana okusinziira ku muntu. Ate era, obuzibu bw’obubonero buno buyinza okwawukana. Obubonero obumu obutera okulabika bwe buno:

• Emiwendo gya 3-methylglutaconic aciduria, asidi ow’obutonde, mu musulo, mu ngeri etaali ya bulijjo.
• Dilated cardiomyopathy mbeera ng’ebisenge ebya wansi eby’omutima bigaziwa, ekitegeeza nti ebinywa by’omutima binafuwa ne bigololwa. Abasawo kino bakiyita dilated cardiomyopathy .
• Obulwadde bwa bakitiriya obutera okukwatibwa . Ensonga lwaki kino kibaawo, abaserikale b’omubiri abanafu.
• Okulwawo okukula : Ayinza okuba omumpi ate nga mutono okusinga abaana abalala ab’emyaka gye gimu.
• Obunafu bw’ekinywa ky’omutima. Kino kiyitibwa obulwadde bw'emisuwa gy'omutima .
• Okukendeera kw’omuwendo gw’obutoffaali obuyitibwa neutrophils, ekika ky’obutoffaali obweru mu musaayi. Embeera eno eyitibwa neutropenia . Kino kikuleetera okukwatibwa yinfekisoni.
• Amatama agalabika obulungi.
• Obutabeera na binywa, okuwulira ng’olina obuzibu. Kino kiyitibwa hypotonia .
• Obunafu bw’ebinywa by’amagumba ebituyamba okutambuza emibiri gyaffe. Kino kiyitibwa obulwadde bw'amagumba .

Obubonero buno buyinza okulabika amangu butya?

Ebiseera ebisinga, obubonero buno bulabika ng’ozaalibwa . Kyokka mu baana abamu, obubonero buno buyinza okulabika nga wayise emyezi mitono nga bamaze okuzaalibwa. N’olwekyo, ng’abazadde, bulijjo tusaanidde okufaayo ku nkula y’omwana waffe n’obulamu bwe.

Bizibu ki ebiyinza okuva mu bulwadde bwa Barth syndrome?

Abaana abalina embeera eno bali mu bulabe bw’okufuna ebizibu eby’enjawulo omuli:

• Obuzibu mu kuliisa n'endya embi .
• Ekiddukano ekitera okubaawo.
• Okulumwa omutwe n’okulumwa omubiri.
• Ssukaali omutono mu musaayi, kwe kugamba , okukendeera kwa sukaali mu musaayi .
• Okugonza n’okunafuwa kw’amagumba, kwe kugamba obulwadde bw’amagumba .
• Okukoowa mu ngeri etaali ya bulijjo, okuwulira ng’okooye ( fatigue ).
• Obulemu mu kuyiga obutono , naddala mu masomo nga okubala.
• Okutera okubeerawo kw’amabwa mu kamwa (amabwa ga kookolo).

Ebizibu bino tebituuka ku buli muntu mu ngeri y’emu, naye okubimanya kiyinza okukuyamba okutandika amangu obujjanjabi.

Obulwadde bwa Barth syndrome buzuulibwa butya? (Okuzuula obulwadde)

Singa obubonero obusooka obw’obulwadde bwa Barth syndrome buzuulibwa nga bukyali, obujjanjabi busobola okutandika eri omwana amangu ddala nga bwe kisoboka. Kino kiyinza okuyamba okufuga okukula kw’obubonero n’okuziyiza ebizibu.

Kiyinza okwetaagisa okukeberebwa okuwerako okusobola okuzuula obulungi obulwadde. Okugeza nga:

• Okukebera okuzingiramu okutwala akatundu akatono ak’ekinywa ky’omutima oba ebitundu by’ebinywa ebirala. Kino kiyitibwa okukebera omubiri (biopsy).Ekimu kiyitibwa kino. Kino kikebera oba waliwo obulema mu mitochondria n’ebintu ebirala ebitali bya bulijjo.
• Okukebera echocardiogram okukebera enkola y’omutima.
• Okukebera obuzaale okukakasa enkyukakyuka mu buzaale ereeta obulwadde bwa Barth syndrome.
• Okukebera omusulo okuzuula asidi ow’obutonde mu musulo omungi n’obutoffaali bw’abaserikale b’omubiri (naddala neutrophils) obutono.

Ntegeera ntya oba omwana wange yeetaaga okukeberebwa obulwadde bwa Barth syndrome?

Singa omwana wo aba n’obubonero bw’okulwawo okukula n’obubonero obukwatagana n’okunafuwa kw’ebinywa by’omutima (cardiomyopathy) , era ng’abasawo tebasobola kuzuula kizibu kitegeerekeka bulungi, bayinza okukuwa amagezi okukebera obulwadde bwa Barth syndrome. Obubonero bw’obulwadde bw’emisuwa gy’omutima buyinza okuli okuziyira, omutima obutakuba bulungi ( arrhythmia ), n’okuwulira eddoboozi ly’omutima eritali lya bulijjo ( heart murmur ).

Bujjanjabi ki obuweebwa obulwadde bwa Barth syndrome?

Kino kye kizibu ekisinga obunene abantu bangi kye balina. Mu butuufu, tewali ddagala lyonna eriwonya obulwadde bwa Barth syndrome n’okutuusa kati . Naye teweeraliikiriranga. Ekigendererwa ekikulu eky'obujjanjabi kwe kuziyiza n'okujjanjaba ebizibu ebivaamu . Kino kiyamba okukuuma omutindo gw’obulamu bw’omwana nga bwe kisoboka. Omwana ayinza okwetaaga obujjanjabi nga:

• Eddagala eritta obuwuka eriwonya yinfekisoni.
• Eddagala eriyamba okukola obutoffaali obweru.
• Eddagala erifuga ebizibu by’omutima. Eby’okulabirako mulimu eddagala eriziyiza ACE, eddagala erifulumya amazzi, n’ery’okuziyiza omusaayi (beta-blockers) .
• Obujjanjabi bw‟omubiri n‟obujjanjabi bw‟emirimu okusobola okugumira obulungi okusoomoozebwa kw‟enkula y‟omubiri.
• Mu mbeera z’omutima okulemererwa ennyo, omutima guyinza n’okukyetaagisa.

Ekisinga obukulu kwe kuwa obujjanjabi buno bwonna okusinziira ku magezi g’abasawo era mu ngeri esaanira buli mwana.

Kiki ekirala ekikulu okumanya ku bujjanjabi bw’obulwadde bwa Barth syndrome?

Kikulu okwekebejjebwa buli kiseera okulondoola engeri omwana gy’akwatamu obujjanjabi. Ebyetaago by’okulabirira omwana wo biyinza okukyuka oluvannyuma lw’ekiseera. Okukeberebwa kuno buli kiseera kwanguyiza okukyusa obujjanjabi nga tebunnabaawo bizibu.

Okukebera kuno era kuliko n’okukebera omusaayi (lab tests) okukebera enkola y’abaserikale b’omubiri. Singa omuwendo gwa neutrophil guba mutono, eddagala eritta obuwuka liyinza okuweebwa okuziyiza okukwatibwa obuwuka.

Obulwadde bwa Barth syndrome busobola okuziyizibwa?

Obulwadde bwa Barth syndrome mbeera ya buzaale . Kino kitegeeza nti busikira. N’olwekyo omwana alina obulwadde bwa Barth syndrome ajja kubufuna obulamu bwe bwonna.

Wabula bw’oba ​​olowooza ku ky’okutandikawo amaka, oba ng’osuubira omwana omulala, ate ng’omuntu mu maka go alina obulwadde bwa Barth syndrome (ebyafaayo by’amaka), okukebera obuzaale kuyinza okukuyamba ennyo. Okukebera kuno kuyinza okukutegeeza oba ggwe ne munno muli basitula enkyukakyuka y’obuzaale bwa TAZ. Bw’oba ​​oli musitula, osobola okusisinkana omukugu mu kubuulirira ku buzaale ne bateesa ku mikisa gy’okuzaala omwana alina obulwadde bwa Barth syndrome.

Abantu abalina obulwadde bwa Barth syndrome bawangaala ki?

Edda obulamu bw’abaana abalina embeera eno bwabanga bumpi nnyo. Baatera okufa nga bawere olw’obuzibu bw’omutima. Kyokka, olw’okuzuula amangu obulwadde n’okujjanjabibwa obulungi, kati abalwadde bawangaala . Olw’enkulaakulana mu sayansi, kati abantu bangi bawangaala okutuuka mu myaka gyabwe egy’obukulu 40, era oluusi n’okusingawo. Waliwo n’essuubi nti obujjanjabi obupya bujja kuzuulibwa mu biseera eby’omu maaso.

Okubeera n’obulwadde bwa Barth syndrome kiri kitya?

Obulwadde bwa Barth syndrome busobola okukosa enkula y’omwana. Abaana bangi bazaalibwa nga bato era bayinza okuba nga bampi.

Obunafu bw’ebinywa n’ebizibu ebirala biyinza okuvaako okulwawo okukula kw’omubiri. Ng’ekyokulabirako, bayinza okuba nga bazibuwalirwa okwekulukuunya, okutambula, n’okukuuma bbalansi. Era bayinza okuwulira nga bakooye mangu naddala nga bamaze okukola emirimu gy’omubiri.

Kyokka, obulwadde bwa Barth tebutera kukosa magezi ga mwana . Kyokka, wayinza okubaawo okusoomoozebwa okutonotono mu kugonjoola ebizibu by’okubala oba okutegeera ensonga ezimu. N’olwekyo, abaana ng’abo beetaaga okufaayo n’okuyambibwa mu ngeri ey’enjawulo.

Nnyinza ntya okuyamba omwana wange okuddukanya ebizibu by’omutima ebiva ku bulwadde bwa Barth syndrome?

Okugoberera obulamu obulungi kiyinza okukendeeza ku situleesi eri ku mutima gw’omwana okutuuka ku ddaala eritali limu.

• Okuwa emmere ennungi .
• Kkomya ku mazzi ng’omusawo bw’akulagidde.
• Kubiriza okukola emirimu gy'omubiri egy'amaanyi . Kyokka era kikulu nnyo okubawa obudde bungi okuwummulamu oluvannyuma lw’okukola emirimu egyo. Lowooza ku bintu ng’okutambula akaseera katono oba omuzannyo ogw’empola.

N’ekisembayo, obubaka obutwala awaka

Obulwadde bwa Barth Syndrome bulwadde bwa buzaale obukosa omutima, abaserikale b’omubiri, ebinywa n’ebirala. Businga kukwata ku balenzi. Obubonero buyinza okulabika ng’azaalibwa oba nga wayiseewo akaseera katono. Wadde ng’obuzibu bw’omutima busobola okukendeeza ku bulamu bw’abaana abalina obulwadde bwa Barth Syndrome, kino tekikyali bwe kityo.

Wadde nga tewali ddagala lya njawulo eriwonya kino, okuzuula amangu n’okujjanjabibwa obulungi kiyinza okukendeeza ku bulabe bw’ebizibu n’okutumbula omutindo gw’obulamu.

N’olwekyo, bw’oba ​​oteebereza nti omwana wo alina obubonero buno, totya, era funa amagezi okuva eri omusawo omukugu mu bwangu. Kubanga buli sikonda eba ya mugaso.

` Barth syndrome, endwadde z’obuzaale, endwadde z’abaana, endwadde z’omutima, abaserikale b’omubiri, obunafu bw’ebinywa, TAZ gene