Omwana wo omuto alina obulwadde buno obutatera kulabika? (Nonketotic Hyperglycinemia - NKH) Ka twogere ku nsonga eno

Omwana wo eyaakazaalibwa bulijjo yeebase, nga tayagala kuyonsa? Oba alina obuzibu mu kussa? Kya bulijjo ggwe ng’omuzadde okutya ennyo ng’olaba ebintu bino. Oluusi, wayinza okubaawo embeera ey’amaanyi, era etali ya bulijjo, emabega w’obubonero buno. Embeera emu ng’ezo ye `(Nonketotic Hyperglycinemia)` oba `(NKH)`. Ka twogere ku nsonga eno mu bujjuvu era mu ngeri ennyangu leero.

Omanyi `(NKH)` kye kitegeeza?

Mu ngeri ennyangu, ``Nonketotic Hyperglycinemia`` oba ``NKH`` mbeera ya buzaale etali ya bulijjo nnyo . Ekibaawo omubiri gw'omwana waffe tegusobola kufuga bulungi oba okumenya molekyu eyitibwa ``glycine``.

Kati oyinza okuba nga weebuuza nti `(glycine)` kye ki. `(Glycine)` ye amino asidi `(amino asidi)`. Nga amatoffaali bwe geetaagisa okuzimba ekizimbe, amino asidi zino zeetaagisa nnyo okuzimba obutoffaali mu mubiri gwaffe. Kale, omubiri gw’omwana bwe gutasobola kufuga bulungi `(glycine)` eno, gutandika okukuŋŋaanyizibwa mu bitundu by’omubiri eby’enjawulo naddala mu bwongo . Kino kiyitibwa `(hyperglycinemia)` nga omutindo gwa `(glycine)` gweyongera mu ngeri eteetaagisa. Kino kiyinza okuvaako obuzibu obw’amaanyi mu busimu, okugwa mu kkoma, n’oluusi n’okufa mu mwana.

Ekitundu ky'erinnya lino "nonketotic" kitegeeza nti lya njawulo ku ndwadde endala eziyinza okuleeta okweyongera kwa glycine mu mubiri. NKH era eyitibwa ensobi ey'obuzaale ey'okukyusakyusa ebiriisa mu mubiri . Embeera ebeerawo ng’azaalibwa era ekosa engeri enkola z’eddagala ezimu mu mubiri gye zitabeerawo bulungi. Erinnya eddala eriyitibwa kino ye glycine encephalopathy.

Waliwo enjawulo yonna eya `(NKH)`?

Yee, abanoonyereza bagabanyaamu NKH mu bika bibiri ebikulu: classical ne variant . Kino kiva ku nkyukakyuka ez’ebika bibiri mu buzaale. Amannya classical ne variant NKH gategeeza gene ki erimu enkyukakyuka.

Classical `(NKH)` eyongera okugabanyizibwamu ebika bibiri - eby'amaanyi n'ebikendedde . Bino biba bisengekeddwa okusinziira ku buzibu bw’obubonero. Ku bino , `(NKH)` ey'amaanyi y'esinga okubeerawo .

Embeera eno ya bulijjo etya?

`(NKH)` bulwadde obutatera kulabika nnyo . Mu nsi yonna, abaana nga omu ku buli 76,000 akwatibwa obulwadde buno. Kale totya ng’owulira ku nsonga eno. Kyokka, kikulu nnyo okubeera n’obwegendereza.

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

Obubonero bw'ebika byombi eby'amaanyi n'ebitono ebya ``NKH'' bitera okutandika ng'ozaalibwa . Oluusi, obubonero buyinza okulabika mu myezi egisooka egy’obulamu.

Obubonero bw'embeera ya `(NKH)` ey'amaanyi:

Ebintu abalongo abalina `(NKH)` ez'amaanyi bye bayinza okusooka okwetegereza bye bino:

• Okwebaka okuyitiridde (okukoowa): Kino kiyinza okweyongera mpolampola ne kigenda mu kkoma.
• Obunafu bw’ebinywaHypotonia: Omwana ayinza okuwulira nga talina bulamu.
• Obuzibu mu kussa obuteeka obulamu mu matigga : Kino kiyinza okulabibwa mu nnaku z’obulamu ezisooka.

Singa weewala obubonero buno obusooka, ebiseera ebisinga ojja kulaba bino wammanga:

• Okukaluubirirwa okunywa amata.
• Okulekera awo okussa (apnea).
• Obulemu obw'amaanyi mu magezi .
• Okukaluba kw’ebinywa mu ngeri etaali ya bulijjo (okusannyalala).
• Okukonziba okuzibu okufuga .

Ebiseera ebisinga, abaana bano tebasobola kukola bintu bya bulijjo mu nkula, gamba ng’okuseeyeeya, okukwata akazannyo, okutuula, n’okunywa mu ccupa. Ne bwe babaako kye bayize, obukugu obwo busobola `okudda emabega` okumala ekiseera. Teeberezaamu engeri ekyo gye kinnyamizaamu abazadde.

Ebifaananyi bya Attenuated NKH:

Obubonero bwa NKH obutono tebuba bwa maanyi nnyo okusinga obwa NKH obw’amaanyi, naye butera okufaanagana. Abaana abalina NKH etali ya maanyi batera okutuuka ku nkula yaabwe, naye obusobozi bwabwe buyinza okwawukana ennyo . Enkula eyinza okulwawo, naye abaana abasinga obungi batuuka ekiseera ne bayiga okutambula n’okwogera n’abalala. Abaana abamu baba n’okukonziba, naye bino ebiseera ebisinga biba bitono ate nga bisobola okujjanjabibwa. Okugatta ku ekyo, obubonero ng’okutambula mu ngeri etali ya kyeyagalire (chorea), okukaluba kw’ebinywa (okusannyalala), n’okukola ennyo (okukola ennyo) nabyo biyinza okulabibwa.

Kiki ekivaako abalongo okukula `(NKH)`?

Ekisinga okuvaako kino y’enkyukakyuka mu buzaale oba enkyukakyuka mu buzaale . Okusingira ddala, abalwadde nga 80% bava ku nkyukakyuka mu buzaale obuyitibwa `(GLDC)`. Ebisigadde biva ku nkyukakyuka mu ggiini eyitibwa `(AMT)`.

Ensengekera zino eza `(GLDC)` ne `(AMT)` zilagira omubiri gwaffe okukola `(enzymes)` ezimu. `(enzymes)` zino zikolera wamu nga ekibinja. Ekibinja kino kiyitibwa `( enkola y’okukutula glycine )`. Kino kye kikola nti bwe tetwetaaga `(glycine)`, kigimenyamu obutundutundu obutonotono. Omuwendo gwa `(Glycine)` bwe gweyongera, gutaataaganya enkola y'obwongo.

Kale, singa wabaawo enkyukakyuka mu bumu ku buzaale buno obubiri, kifuuka kizibu emibiri gyaffe okumenya glycine. Enkyukakyuka ezimu zikendeeza ku nkola y’enkola eno ey’okukutula glycine, ate endala zigimalawo ddala. Enkola eno bw’etakola bulungi, glycine ow’enjawulo azimba mu bitundu by’omwana naddala mu bwongo. Bannasayansi n’okutuusa kati tebamanyi bulungi ngeri buno obutali bwa bulijjo gye buviirako obubonero bwa NKH.

Obulwadde ``(NKH)`` busikira mu ``autosomal recessive pattern.`` Kino kitegeeza nti kkopi zombi ez'obuzaale mu buli katoffaali zirina okuba n'enkyukakyuka. Ebiseera ebisinga, abazadde bombi abazaala omuntu alina ``(NKH)`` balina kkopi emu ey'obuzaale buno obukyusiddwa, naye tebafuna bubonero.

Abasawo bazuula batya obulwadde bwa `(NKH)`?

Okuzuula `(NKH)`, omusawo w'omwana wo ajja kusooka kukeberebwa mubiri era atunuulire nnyo obubonero. Awo,

• Omutindo gwa `(glycine)` mu mazzi g'omugongo (`(Cerebral Spinal Fluid - CSF)`) ne plasma y'omusaayi `(plasma)` gukeberebwa. Emirimu gya `(enzyme)` eyogeddwako waggulu bwe gikendeera, omutindo gwa `(glycine)` mu `(CSF)` ne plasma gweyongera. Era, omugerageranyo wakati w’omutindo gwa `(glycine)` mu `(CSF)` n’omutindo gwa `(glycine)` mu plasma nagwo gweyongera.
• MRI scan y’obwongo nayo ya mugaso nnyo, kubanga esobola okulaga enkola entongole ey’enkyukakyuka mu bwongo bw’abalongo abalina NKH.
• Okukebera obuzaale nakyo kisobola okukebera enkyukakyuka mu emu ku buzaale obubiri obuleeta NKH.
• Tekitera nnyo, akatundu akatono ak’ekibumba kayinza okutwalibwa okukeberebwa (liver biopsy) okukakasa nti kizuuliddwa.

Bujjanjabi ki obwa `(NKH)`?

Olw’okuba abalongo abalina `(Nonketotic Hyperglycinemia)` batera okuba nga balwadde nnyo, beetaaga okujjanjabibwa mu `(Neonatal Intensive Care Unit - NICU)` . Mu `(NICU)`, omwana wo ajja kufuna okulabirirwa n'obujjanjabi obw'omutindo ogwa waggulu.

Ebyembi, mu kiseera kino tewali ddagala lya `(NKH)` ery'amaanyi . Wabula ku balongo abalina ebika bya `(NKH)` ebitonotono, obujjanjabi obumu buyinza okuyamba. Obujjanjabi buno bwetaaga okuweebwa nga bukyali era mu ngeri ey’obukambwe okusobola okusinga okukola obulungi.

Obujjanjabi buno osobola okubuweebwa bwokka oba nga bugatta wamu:

• Eddagala erikendeeza ku muwendo gwa `(glycine)` mu mubiri gw'omwana (e.g. `(sodium benzoate)` ).
• Eddagala erikola ku kikolwa kya `(glycine)` mu butoffaali bw'obusimu obumu (e.g. `(ketamine)` oba `(dextromethorphan)` ).

Okufuga okukonziba nakyo kikulu nnyo. Okukonziba kuyinza okuba okuzibu okufuga n’eddagala erya bulijjo. Obujjanjabi obulungi, kiyinza okwetaagisa okugatta eddagala eriwerako, era eddagala erimu, gamba nga valproic acid, kiyinza okwetaagisa okwewala. Endya ya ketogenic nayo esobola okuyamba okufuga okukonziba.

Obujjanjabi bw'obubonero obulala obwa `(NKH)`:

• Okuyingiza empewo mu byuma.
• Tubu eyingizibwa mu lubuto okusobola okufuna emmere (gastrostomy tube).
• Obujjanjabi bw’omubiri.
• Okuyingira mu nsonga nga bukyali n‟obuyambi obw‟enjawulo.

Bw’oba ​​osobola, buuza omusawo wo ku ngeri y’okwetaba mu kugezesebwa okw’obujjanjabi .

Obulamu bw'omuntu alina `(NKH)` buliwa?

Kizibu okwogera ebbanga ddala omuntu alina NKH ly’asobola okuwangaala. Kino kiri bwe kityo kubanga waliwo enkyukakyuka nnyingi ez’enjawulo mu buzaale era obuzibu bw’obulwadde buno bwawukana nnyo. Wabula ekitongole kya Foundation for Nonketotic Hyperglycinemia kiteebereza nti abaana 80% abalina obulwadde buno tebawangaala mu kiseera ky’okuzaalibwa (omwezi ogusooka mu bulamu) . Ne bwe banaawona mu kiseera ky’okuzaalibwa, abaana bangi abalina NKH ey’amaanyi tebawangaala nga basukka myaka 5. Ttiimu y’abasawo b’omwana wo ejja kusobola okukuwa endowooza ennungi ku kino. Weesigamye ku bukugu bwabwe n’obuwagizi bwabwe. Ntegedde engeri gye kiteekwa okuba ekizibu okuwulira kino.

Obulwadde buno busobola okuziyizibwa?

Nedda (NKH) mbeera ya buzaale era tesobola kuziyizibwa . Bw’oba ​​weeraliikirira nti omwana wo ayinza okusikira embeera eno, kirungi n’oyogera n’omukugu mu kubuulirira ku buzaale nga tonnateekateeka kufuna lubuto.

Ddi lwe nnina okutwala omwana wange ew’omusawo?

Omwana wo eyaakazaalibwa bw’aba alaga obukoowu obuyitiridde oba nga tayagala kuyonsa , olina okumutwala ew’omusawo w’abaana amangu ago. Omusawo ayinza n’okukusindika mu kitongole ky’abalwadde ab’amangu mu ddwaaliro okufuna obujjanjabi obw’amangu. Ka kibeere ki ekivaako obubonero buno, kikulu okubukebera amangu ddala.

Bibuuzo ki bye nnina okubuuza omusawo w’omwana wange?

Omwana wo bw'aba alina `(NKH)`, oyinza okwagala okubuuza ebibuuzo bino:

• Ensonga ki evuddeko okutondebwawo kwa `(NKH)`?
• Omwana wange alina nkyukakyuka ki eya `(NKH)`?
• Bujjanjabi ki bw’okuwa amagezi?
• Waliwo okukebera kwonna okuyinza okulagula obuzibu bw’obulwadde buno?
• Omwana wange asobola okukulaakulana okutuuka wa mu nkula (okutambula, okwogera, amagezi)?
• Omwana wange anaaba alina okumira eddagala obulamu bwe bwonna?
• Abaana bange ab'omu maaso nabo basobola okukulaakulanya `(NKH)`?
• Osobola okuteesa ku kibiina ekiwagira?

Omwana wo bw’azuulibwa ng’alina obulwadde bwa Nonketotic Hyperglycinemia (NKH), amawulire ago gayinza okukuwuniikiriza n’okutabula. Kiyinza okukuzitoowerera okukimanya nti omwana wo alina embeera etali ya bulijjo ng’alina obujjanjabi butono. Bwe kiba kisoboka, funa ekibiina ekiyamba amaka g‟abaana abalina NKH. Bw’oyogera n’abalala abayise mu bintu bye bimu nga ggwe osobola, kiyinza okukuwa amaanyi n’okukuyamba okugumira embeera eyo. Jjukira nti ttiimu y’abasawo omwana wo eriwo okukuwagira buli ddaala ly’ogendako.

## Ebintu Ebikulu by'olina Okujjukira (Obubaka Obutwala Awaka)

• (NKH) bulwadde obutatera kulabika nnyo, obw’amaanyi obuva ku buzaale .
• Kino kireetera eddagala eriyitibwa ``glycine'' okukuŋŋaanyizibwa mu mubiri gw'omwana naddala mu bwongo .
• Obubonero butera okutandika ng’azaalibwa era buyinza okuli okwebaka ennyo, okukaluubirirwa okulya, okukaluubirirwa okussa n’okukonziba.
• Embeera ya `(NKH)` ey'amaanyiWadde nga tewali ddagala liwonya, waliwo obujjanjabi obumu obutono.
• Omwana wo bw’aba alina obubonero buno, kyetaagisa okugenda amangu ew’omusawo .
• Si ggwe wekka mu lugendo luno. Funa obuyambi okuva mu ttiimu yo ey'abasawo n'ebibiina ebiwagira . Amaanyi go ag’ebirowoozo nago makulu nnyo.

Nsuubira nti amawulire gano gakuyamba. Ekisinga obukulu mu biseera bino ebizibu kwe kusigala ng’oli mugumu.

` Nonketotic Hyperglycinemia, NKH, Glycine, Endwadde z’obuzaale, Endwadde z’abaana, Obuzibu mu busimu, Obulema mu nkyukakyuka y’emmere