Omwana wo alina obubonero buno? Ka twogere ku bulwadde bwa Jacobsen Syndrome

Olabye enkyukakyuka oba obuzibu bwonna mu nkula y’omwana wo omuto oba mu ndabika y’amaaso? Oluusi, embeera etali ya bulijjo nga Jacobsen Syndrome eyinza okuba emabega wa kino. Tofaayo, buli kimu tujja kukikuuma nga kyangu.

Obulwadde bwa Jacobsen Syndrome kye ki?

Mu ngeri ennyangu, obulwadde bwa Jacobsen Syndrome mbeera etatera kulabika nga yeekuusa ku chromosomes mu mubiri gwaffe. Obuzaale bwaffe bubeera ku chromosomes zino. Mu mbeera eno, obuzaale obuwerako bubula oba busazibwamu okuva mu kitundu kya chromosome yaffe 11. Okubeera omutuufu, obuzaale buno bubula okuva ku nkomerero y’omukono omuwanvu (q arm) ogwa chromosome eno. Eno y’ensonga lwaki era kiyitibwa 11q terminal deletion disorder.

Teebereza, singa akatundu akatono aka chromosome 11 kabula, omuwendo gw’obuzaale obukoseddwa nagwo gukendeera. Olwo obubonero buyinza okukendeera katono. Naye ekitundu ekinene bwe kiba kibula, obubonero buba bwa maanyi nnyo. Abantu abamu bwe baba n’ekitundu ekitono kyokka ekibula mu ngeri eno, kiyitibwa partial Jacobsen syndrome oba partial monosomy 11q. Monosomy (Monosomy) bwe kiba ekitundu ky’ensengekera y’obutonde (chromosome pair) bwe kibula.

Abaana abalina obulwadde bwa Jacobsen Syndrome balina okulwawo okukula , ensonga z'enneeyisa , n'ebifaananyi eby'enjawulo mu maaso . Abaana bangi nabo balina obuzibu ku mutima obuzaalibwa nabwo . Era batera okuba n’obulwadde bw’okuvaamu omusaayi obuyitibwa Paris-Trousseau syndrome.

Mu kiseera kino tewali ddagala lyonna eriwonya kino era obudde bw’okuwangaala bwawukana okusinziira ku muntu.

Bubonero ki obulaga obulwadde bwa Jacobsen Syndrome?

Obubonero bw’obulwadde bwa Jacobsen Syndrome bwawukana okusinziira ku bunene n’ekifo we waggyibwawo. Abantu bangi bafuna okulwawo mu nkulaakulana y'okwogera n'okukozesa enkola y'emirimu . Era bayinza okuba n'obuzibu mu kutegeera n'obulemu obulala mu kuyiga .

Abaana bangi abalina obulwadde bwa Jacobsen Syndrome nabo balina obuzibu mu nneeyisa . Okugeza, okweyisa mu ngeri ewalirizibwa n’okussaayo omwoyo okumala akaseera katono. Abaana bangi era bazuulibwa nga balina obulwadde obuyitibwa Attention-Deficit/Hyperactivity Disorder (ADHD) . Embeera eno era ekwatagana n'obulabe obw'okwongera okukwatibwa obulwadde bwa Autism Spectrum Disorders .

Ebifaananyi ebitongole mu maaso

Abaana abalina obulwadde bwa Jacobsen Syndrome balina ebifaananyi by’amaaso ebiwerako eby’enjawulo. Mu bino mulimu:

• Okubeera n’omutwe omunene - macrocephaly
• Ekyenyi ekisongovu olw’obutabeera bulungi mu kiwanga (trigonocephaly) .
• Amatu amatono, agateekeddwa wansi
• Amaaso agava ewala - hypertelorism
• Ebikowe by’amaaso ebigwa - ptosis
• Okubeerawo kw’ekizimba ky’olususu ku nsonda ey’omunda ey’eriiso - ebizimba eby’ekika kya epicanthal
• Omutala gw’ennyindo omugazi
• Ensonda z’akamwa ezikyuka wansi
• Omumwa ogw’okungulu omugonvu
• Akatundu akatono akasala wansi

Ebintu ebirala ebirimu

Ebintu ebirala ebiwerako osobola okubiraba:

• Obulema bw’omutima obuzaalibwa nabwo
• Obuzibu mu kuliisa
• Okulwawo okukula nga tonnazaalibwa n’oluvannyuma lw’okuzaalibwa
• Obuwanvu obumpi
• Okukwatibwa yinfekisoni za sinus n’amatu enfunda eziwera
• Obutabeera bulungi mu nkola y’okugaaya emmere, ensigo n’ebitundu by’ekyama

Abantu bangi abalina obulwadde bwa Jacobsen Syndrome nabo balina obuzibu bw’okuvaamu omusaayi obuyitibwa Paris-Trousseau syndrome . Kino kikosa obutoffaali bw’omwana wo . Platelets kika kya butoffaali obuyamba omusaayi okuzimba. Olw’obulwadde bwa Paris-Trousseau, omwana ali mu bulabe bw’okuvaamu omusaayi mu ngeri etaali ya bulijjo obulamu bwe bwonna, era ayinza okunyiga amangu.

Biki ebivaako obulwadde bwa Jacobsen Syndrome?

Obulwadde bwa Jacobsen Syndrome bulwadde bwa chromosomes . Nga bw’omanyi, chromosomes bye bintu ebirimu amawulire gaffe ag’obuzaale (genes). Obuzaale buno bwe busalawo engeri omubiri gwaffe gye gulina okukula n’okukola. Mu budde obwabulijjo, mu mubiri gw’omuntu mubaamu ebitundu 22 eby’ensengekera z’obutonde (chromosomes) ezirina ennamba, nga kwogasse n’ensengekera z’ekikula ekimu (sex chromosomes). Buli chromosome erina omukono omumpi (p arm) n’omukono omuwanvu (q arm).

Mu bantu abamu, obuzaale obuwerako ku nkomerero y’omukono omuwanvu (q) ogwa chromosome 11 busazibwamu. Ekitundu ekirala ekya chromosome 11 mu budde obutuufu kiba tekifudde. Kino kye kivaako obulwadde bwa Jacobsen Syndrome. Sayizi y’okusazaamu gy’ekoma okuba ennene, obubonero gye bukoma okuba obw’amaanyi. Okusinziira ku bunene bw’okuggyibwako, ekitundu kino kiyinza okubaamu obuzaale okuva ku 170 okutuuka ku busukka mu 340. Ensengekera z’obuzaale eziri mu kitundu kino ze zivunaanyizibwa ku nkula entuufu ey’omutima gwaffe, obwongo, ne mu maaso.

Kino kifuga oba kidda emabega?

Dominant oba recessive kitegeeza engeri gy’ofunamu obuzaale bwo okuva mu bazadde bo.

Naye,Emirundi egisinga, obulwadde bwa Jacobsen Syndrome si bwa nsikirano. Kwe kugamba, tekisikira kuva mu bazadde. Kisinga kuva ku nsobi etali ya bulijjo mu kugabanya obutoffaali mu kiseera ky’okukula kw’embuto, ekivaamu okufiirwa ekitundu kya chromosome. Abazadde tebalina kye bayinza kukola kubuziyiza, era tewali kye bayinza kukola kubuziyiza. Abantu abalina obulwadde bwa Jacobsen Syndrome batera obutaba na byafaayo bya maka ku mbeera eno. Kyokka akakwakkulizo kano basobola okubuyisa mu baana baabwe.

Si bulijjo nnyo, abantu abalina obulwadde bwa Jacobsen Syndrome basobola okusikira embeera eno okuva ku muzadde atalina bubonero. Kino kibaawo ng'omuzadde alina ekintu ekizibu eky'obuzaale ekiyitibwa balanced translocation . Mu ngeri ennyangu, ekitundu kya chromosome 11 n’ekitundu kya chromosome endala biwanyisiganya ebifo. Kino tekikendeeza ku buzaale, n’olwekyo abazadde tebalaga bubonero. Kyokka, chromosomes zino bwe ziyisibwa, abaana bayinza okuba n’obutakwatagana.

Biki ebiyinza okuvaako akabi?

Obulwadde bwa Jacobsen Syndrome bulwadde bwa buzaale obusobola okukwata omuntu yenna. Okunoonyereza okumu kuzudde nti kikwata abawala emirundi mingi katono.

Abasawo kino bakizuula batya?

Omusawo ayinza okusobola okuzuula obulwadde bwa Jacobsen Syndrome ng’oli lubuto. Singa okukebera eddoboozi nga tonnazaala kireeta okweraliikirira kwonna, omusawo ayinza okukuwa amagezi okwongera okukeberebwa. Okukebera obuzaale obutera okukolebwa nga tebannazaala mulimu:

• Non-invasive prenatal testing (NIPT): Kino kizingiramu okuggya akatundu akatono ku DNA y’omwana wo okuva mu sampuli y’omusaayi gwo n’okukebera oba tewali buzibu bwonna mu muwendo gwa chromosomes.
• Chorionic villus sampling (CVS): Omusawo akozesa empiso okuggya sampuli y’obutoffaali okuva mu nnabaana.
• Amniocentesis: Omusawo akozesa empiso okutwala sampuli y’amazzi g’omu lubuto mu nnabaana.

Oluvannyuma lw’okuzaalibwa omwana, omusawo w’omwana asobola okuzuula obulwadde bwa Jacobsen Syndrome ng’akola okukebera obuzaale . Mu kukebera kuno okw’obuzaale, omusawo akwata sampuli y’omusaayi gw’omwana n’agutunuulira ng’ali mu microscope. Zisiiga amabala ku chromosomes eziri mu sampuli, eziringa barcode. Kino kiyinza okunoonya chromosomes ezimenyese, obuzaale obubula. Ebiseera ebisinga, ekitundu ekimenyese kiba ku chromosome 11. Kyokka, kyetaagisa okwongera okukebera obuzaale okuzuula ekifo ekituufu we kimenyese.

Ekigezo ekirala ye Microarray Comparative Genomic Hybridization (Array CGH).. Oluusi enkyukakyuka entonotono ennyo mu chromosomes, entono ennyo ezitasobola kulabibwa wansi wa microscope, zisobola okuleeta Jacobsen Syndrome. Wano abasawo we bakola okukebera kuno okwa Array CGH. Kino kiraga enkyukakyuka entonotono ennyo mu DNA mu chromosomes zonna ez’omwana. Kisobola okuzuula oba DNA ekoppiddwa, etaataaganyizibwa oba ebula.

Obulwadde bwa Jacobsen Syndrome bujjanjabwa butya?

Tewali ddagala eriwonya obulwadde bwa Jacobsen Syndrome. Obujjanjabi okusinga essira liteekebwa ku:

• Okuddukanya obubonero bw’omwana wo
• Okumuyamba okutuuka ku misomo gye egy’enkulaakulana
• Okwewala ebizibu by’obulamu

Ku balongo abazibuwalirwa okulya, abasawo bayinza okukuwa amagezi okukozesa ekyuma ekiyitibwa gastrostomy tube (G-tube) . Tubu eno eteekebwa butereevu mu lubuto lw’omwana okutuusa emmere. Okulongoosa okuyitibwa fundoplication kuyinza okutereeza ekizibu ku vvaalu eri wansi w’omumwa gwa nnabaana.

Omwana wo ayinza okwetaaga okulongoosebwa okulala. Ng’ekyokulabirako, okulongoosa okutereeza ebizibu by’omutwe n’amaaso, gamba ng’obulwadde bwa trigonocephaly . Era kiyinza okwetaagisa okulongoosebwa okutereeza obuzibu mu kulaba oba amaaso. Ate era kiyinza okwetaagisa okulongoosebwa okutereeza obulema bw’amagumba, omutima, n’ebirala.

Omusawo w’omwana wo ayinza okukuwa eddagala erimu ku bizibu by’omutima ebimu. Ng’ekyokulabirako, antiarrhythmics . Lino ddagala eriyamba okuziyiza oba okutereeza ennyimba z’omutima ezitali za bulijjo. Bayinza n'okuwandiika eddagala eriweweeza ku musulo . Lino ddagala eriyamba okuggya amazzi agasukkiridde mu mubiri.

Abasawo bayinza okukuwa amagezi okukozesa endabirwamu ezitereeza, lenzi, oba okulongoosebwa eri amaaso agatali ga bulijjo.

Abasawo bayinza okuteekebwamu omusaayi oba okuteekebwamu obutoffaali obuyitibwa platelet okujjanjaba ebizibu ebiva mu bulwadde bwa Paris-Trousseau syndrome . Era bayinza okukuwa eddagala eriyitibwa desmopressin , eriyamba omusaayi gwo okuzimba.

Omwana wo mazima ddala ajja kutuuka ku nkulaakulana ye mu kiseera ekimu. Kyokka, okuyingira mu nsonga nga bukyali kiyinza okubayamba okutuuka ku busobozi bwabwe bwonna. Omusawo w’omwana wo ayinza okukugamba bino wammanga:

• Okusomesa mu ngeri ey’enjawulo ey’okutereeza
• Obujjanjabi bw’omubiri
• Obujjanjabi bw’okwogera

Kiki kye nsuubira singa omwana wange alina obulwadde bwa Jacobsen Syndrome?

Obulamu bw’abantu abalina obulwadde bwa Jacobsen Syndrome bwawukana okusinziira ku buzibu bw’obubonero bwabwe. Olw’embeera z’omutima ez’amaanyi n’obuzibu bw’okuzimba omusaayi, abaana nga 20% abalina obulwadde bwa Jacobsen Syndrome bafa nga tebannaweza myaka 2.

Wabula abaana bangi abalina obulwadde bwa Jacobsen Syndrome basimattuse okutuuka mu bukulu. Abantu abakulu abalina embeera eno basobola okubeera mu bulamu obw’essanyu, obumatiza nga balina obwetwaze obw’enjawulo.

Obulwadde bwa Jacobsen Syndrome busobola okuziyizibwa?

Olw’okuba embeera ya buzaale, obulwadde bwa Jacobsen Syndrome tebusobola kuziyizibwa. Bw’oba ​​oli lubuto oba ng’oteekateeka okufuna olubuto, buuza omusawo wo ku kubuulirira ku buzaale . Omukugu mu kubuulirira ku buzaale asobola okukuyamba okutegeera akabi akali mu kuzaala omwana alina obulwadde bwa Jacobsen Syndrome.

Okuzuula nti omwana wo alina obulwadde bwa Jacobsen Syndrome kiyinza okukutiisa. Tosattira, wabula funa obudde oyige bingi nga bw’osobola ku ngeri omwana wo gy’azuddemu obulwadde. Bwe kiba kisoboka, fuba okunoonya omusawo ategeera embeera y’omwana wo. Asobola okuwa omwana wo obujjanjabi obusinga obulungi.

Okusobola okukuyamba okugumira obulwadde bw’omwana wo, tunuulira ebibinja ebiyamba omwana wo . Abalala ababadde mu mbeera y’emu nga ggwe basobola okukuwa okumanya n’amaanyi bye weetaaga okuyamba omwana wo.

Obubaka Obutwala Awaka

Obulwadde bwa Jacobsen Syndrome mbeera etali ya bulijjo era eyinza okuba enzibu, naye jjukira nti toli wekka.

• Kino kiva ku nkyukakyuka y’obuzaale (random genetic mutation) , so si nsobi ya bazadde.
• Okuzuula amangu n‟okuyingira mu nsonga kikulu nnyo okutumbula omutindo gw‟obulamu bw‟omwana.
• Noonya obuyambi okuva mu basawo abakugu, abajjanjabi, n’ababuulirira .
• Amaanyi n‟obumanyirivu ebifunibwa okuva mu bibiina ebiwagira n‟abazadde abalala bya muwendo nnyo.
• Buli mwana wa njawulo. Omwana wo muyise n’okwagala n’obugumiikiriza okusinziira ku busobozi bwe n’obwetaavu bwe.

Bw’oba ​​olina ekibuuzo ekirala kyonna ku nsonga eno, tolwawo kwogera na musawo wo.

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