Ese umwana wawe afite iyi ndwara idasanzwe? (Nonketotic Hyperglycinemia - NKH) Reka tuvuge kuri ibi

Ese umwana wawe uvutse ahora asinzira, adashishikajwe no konsa? Cyangwa afite ikibazo cyo guhumeka? Ni ibisanzwe ko wowe nk'umubyeyi wumva ufite ubwoba bwinshi iyo ubonye ibi bintu. Hari igihe hashobora kubaho ikibazo gikomeye, kandi kidasanzwe, inyuma y'ibi bimenyetso. Imwe muri izo ndwara ni `(Nonketotic Hyperglycinemia)` cyangwa `(NKH)`. Reka tubiganireho birambuye kandi byoroheje uyu munsi.

Uzi icyo `(NKH)` bisobanura?

Mu magambo make, ``Nonketotic Hyperglycinemia`` cyangwa ``NKH`` ni indwara idakunze kugaragara mu buryo bw'uturemangingo . Icyaba ari uko umubiri w'umwana wacu udashobora kugenzura cyangwa gusenya neza molekile yitwa ``glycine``.

Noneho ushobora kuba uri kwibaza icyo `(glycine)` ari cyo. `(Glycine)` ni aside amine` (aside amine)`. Nk'uko amatafari akenewe kugira ngo hubakwe inyubako, izi aside amine ni ingenzi kugira ngo hubakwe poroteyine mu mubiri wacu. Rero, iyo umubiri w'umwana udashobora kugenzura neza iyi `(glycine)`, itangira kwirundanya mu bice bitandukanye by'umubiri, cyane cyane mu bwonko . Ibi byitwa `(hyperglycinemia)` iyo urugero rwa `(glycine)` rwiyongereye bitari ngombwa. Ibi bishobora gutera ibibazo bikomeye by'imitsi, koma, ndetse rimwe na rimwe ndetse n'urupfu ku mwana.

Igice cy'izina "kidakora neza" kivuga ko gitandukanye n'izindi ndwara zishobora gutuma glycine yiyongera mu mubiri. NKH yitwa kandi ikosa ryo mu mubiri mu mikorere y'umubiri . Ni indwara ibaho mu gihe cyo kuvuka kandi ikagira ingaruka ku buryo imikorere imwe n'imwe y'ibinyabutabire mu mubiri idakora neza. Irindi zina ni glycine encephalopathy.

Ese hari ubwoko bwa `(NKH)`?

Yego, abashakashatsi bagabanya NKH mu moko abiri y'ingenzi: classical na variant . Ibi biterwa n'ubwoko bubiri bw'impinduka mu ngirabuzimafatizo. Amazina classical na variant NKH yerekeza kuri ngirabuzimafatizo ifite impinduka.

Ubwoko bwa kera bwa `(NKH)` bugabanyijemo ubwoko bubiri - bukomeye n'ubudakomeye . Ubu bwoko bushyirwa mu byiciro hakurikijwe uburemere bw'ibimenyetso. Muri ubwo bwoko , `(NKH)` ikomeye ni yo ikunze kugaragara cyane .

Iyi ndwara ikunze kugaragara gute?

`(NKH)` ni indwara idakunze kugaragara . Ku isi yose, hafi umwana umwe mu bana 76.000 arwara iyi ndwara. Bityo rero ntugahangayike iyo wumvise ibi. Ariko, ni ngombwa cyane kubimenya.

Ni ibihe bimenyetso by'indwara ya `(NKH)`?

Ibimenyetso by'ubwoko bwa "NKH" bukabije n'ubuto buto akenshi bitangira umwana akivuka . Hari igihe ibimenyetso bishobora kugaragara mu mezi make ya mbere y'ubuzima bwe.

Ibimenyetso by'indwara ikomeye ya `(NKH)`:

Ibintu bya mbere abana bafite `(NKH)` ikomeye bashobora kubona ni ibi bikurikira:

• Gusinzira cyane (ubunebwe): Ibi bishobora kwiyongera buhoro buhoro bikagera kuri koma.
• Intege nke z'imitsiHypotonia: Umwana ashobora kumva nta buzima afite.
• Ingorane zo guhumeka zishyira ubuzima mu kaga : Ibi bigaragara mu minsi ya mbere y'ubuzima.

Iyo wirinze ibimenyetso bya mbere, akenshi uzabona ibi bikurikira:

• Kugorwa no kunywa amata.
• Guhagarika guhumeka rimwe na rimwe (apnea).
• Ubumuga bukomeye bwo mu mutwe .
• Kugorama kw'imitsi kudasanzwe (spasticity).
• Indwara zo mu mutwe zigoye kuzigenzura .

Akenshi, aba bana ntibashobora gukora ibikorwa bisanzwe byo gukura, nko gukurura, gufata igikinisho, kwicara, no kunywa mu icupa. Nubwo hari icyo bize, ubwo buhanga bushobora 'gusubira inyuma' uko igihe kigenda. Tekereza ukuntu ibyo bibabaje ababyeyi.

Ibiranga NKH yagabanutse:

Ibimenyetso bya NKH yoroheje ntibikomeye cyane ugereranyije n’ibya NKH ikomeye, ariko akenshi bisa. Abana bafite NKH yoroheje bakunze kugera ku ntambwe zabo z'iterambere, ariko ubushobozi bwabo bushobora gutandukana cyane . Gukura bishobora gutinda, ariko abana benshi amaherezo biga kugenda no kuvugana n'abandi. Hari abana bagira ibibyimba, ariko akenshi biba byoroheje kandi bivurwa. Byongeye kandi, ibimenyetso nko kwimuka nta bushake (chorea), gukomera kw'imitsi (spasticity), no gukora cyane (hyperactivity) nabyo bishobora kugaragara.

Ni iki gituma abana bakura `(NKH)`?

Impamvu nyamukuru ibitera ni impinduka mu ngirabuzimafatizo, cyangwa impinduka mu miterere . By'umwihariko, hafi 80% by'abarwayi baterwa n'impinduka mu ngirabuzimafatizo yitwa `(GLDC)`. Izindi ziterwa n'impinduka mu ngirabuzimafatizo yitwa `(AMT)`.

Izi jeni za `(GLDC)` na `(AMT)` zigisha umubiri wacu gukora `(enzymes)` runaka. Izi `(enzymes)` zikorana nk'itsinda. Iri tsinda ryitwa `( système cleavage ya glycine)`. Icyo ibi bikora ni uko iyo tudakeneye `(glycine)`, igabanyamo ibice bito. Iyo ingano ya `(Glycine)` yiyongera, ibangamira imikorere y'ubwonko.

Rero, iyo habayeho impinduka muri buri jeni muri izi ebyiri, biragorana ko imibiri yacu ihinduranya glycine. Impinduka zimwe na zimwe zigabanya imikorere y'iyi sisitemu yo gucikamo glycine, mu gihe izindi ziyikuraho burundu. Iyo iyi sisitemu idakora neza, glycine yiyongera mu ngingo z'umwana, cyane cyane ubwonko. Abahanga mu bya siyansi ntibaramenya neza uburyo ibi bintu bidasanzwe bigira uruhare mu bimenyetso bya NKH.

Indwara ``(NKH)`` iragwa mu buryo bwa ``autosomal recessive pattern``. Ibi bivuze ko kopi zombi za gene muri buri selile zigomba kuba zifite mutation. Ubusanzwe, ababyeyi bombi b'umuntu ufite ``(NKH)`` baba bafite kopi imwe y'iyi gene yahindutse, ariko ntibagaragaza ibimenyetso.

Ni gute abaganga basuzuma indwara ya `(NKH)`?

Kugira ngo apime `(NKH)`, muganga w'umwana wawe azabanza kumukorera isuzuma ry'umubiri hanyuma arebe neza ibimenyetso. Hanyuma,

• Urugero rwa `(glycine)` mu mazi yo mu bwonko (`(Cel Spinal Fluid - CSF)`) na `(plasma)` mu maraso `rurapimwa. Iyo imikorere ya `(enzyme)` yavuzwe haruguru igabanutse, urugero rwa `(glycine)` muri `(CSF)` na plasma ruriyongera. Nanone, igipimo kiri hagati y'urugero rwa `(glycine)` muri `(CSF)` n'urugero rwa `(glycine)` mu maraso nacyo kiriyongera.
• Gupima ubwonko hakoreshejwe MRI nabyo ni ingirakamaro cyane, kuko bishobora kugaragaza imiterere yihariye y'impinduka mu bwonko bw'abana bafite NKH.
• Gupima imiterere y’uturemangingo bishobora kandi gusuzuma impinduka muri imwe muri jeni ebyiri zitera NKH.
• Ni gake cyane, agace gato k'umwijima gashobora gufatwa ngo gasuzumwe (biopsy y'umwijima) kugira ngo hemezwe ko ari indwara.

Ni ubuhe buryo bwo kuvura `(NKH)`?

Kubera ko abana bafite `(Nonketotic Hyperglycinemia)` bakunze kurwara cyane, bagomba kuvurirwa muri `(Inzu y'Abana Bakiri Bato - NICU)` . Muri `(NICU)`, umwana wawe azahabwa ubuvuzi n'ubuvuzi bwo ku rwego rwo hejuru.

Ikibabaje ni uko nta muti uhari kuri ubu wo kuvura indwara ikomeye ya `(NKH)` . Ariko, ku bana bafite ubwoko bworoheje bwa `(NKH)`, hari uburyo bwo kuvura bushobora kuba ingirakamaro. Ubu buryo bwo kuvura bugomba gutangwa hakiri kare kandi mu buryo bukomeye kugira ngo bugire ingaruka nziza.

Ubu buryo bwo kuvura bushobora gutangwa bwonyine cyangwa buri hamwe:

• Imiti igabanya urugero rwa `(glycine)` mu mubiri w'umwana (urugero: `(sodium benzoate)` ).
• Imiti irwanya imikorere ya `(glycine)` mu turemangingo tumwe na tumwe tw'imitsi (urugero: `(ketamine)` cyangwa `(dextromethorphan)` ).

Kugenzura indwara zo mu mutwe nabyo ni ingenzi cyane. Indwara zo mu mutwe zishobora kugorana kuzirwanya ukoresheje imiti isanzwe. Kugira ngo uvurwe neza, ushobora gukenera guhuza imiti myinshi, kandi imiti imwe na imwe, nka aside valproic, ishobora gukenera kwirindwa. Indyo ya ketogenic nayo ishobora gufasha mu kurwanya indwara zo mu mutwe.

Uburyo bwo kuvura ibindi bimenyetso bya `(NKH)`:

• Guhumeka hakoreshejwe ikoranabuhanga.
• Umuyoboro winjizwa mu gifu kugira ngo utange ibiryo (umuyoboro wa gastrostomy).
• Ubuvuzi bw'umubiri.
• Gutabara hakiri kare n'ubufasha bw'inyongera.

Niba bishoboka, baza muganga wawe niba bishoboka ko wakwitabira igerageza rya muganga .

Ni iki kiranga igihe cyo kubaho cy'umuntu ufite `(NKH)`?

Biragoye kuvuga neza igihe umuntu urwaye NKH ashobora kubaho. Ibi biterwa nuko hari impinduka nyinshi zitandukanye mu miterere y'uturemangingo kandi uburemere bw'iyi ndwara buratandukanye cyane. Ariko, Ikigo gishinzwe kurwanya indwara ya hyperglycinemia kitaragera ku bana bavutse (Fondation for Nonketotic Hyperglycinemia) kivuga ko 80% by'abana barwaye iyi ndwara batabasha kubaho mu gihe cy'impinja (ukwezi kwa mbere k'ubuzima) . Nubwo babasha kubaho mu gihe cy'impinja, abana benshi bafite NKH ikomeye ntibabaho barengeje imyaka 5. Itsinda ry'abaganga b'umwana wawe rizashobora kuguha igitekerezo cyiza kuri ibi. Ishingikirize ku buhanga bwabo n'ubufasha bwabo. Ndumva ukuntu bigoye kubyumva.

Ese iyi ndwara ishobora kwirindwa?

Oya (NKH) ni indwara iterwa n'uturemangingo kandi ntishobora kwirindwa . Niba ufite impungenge ko umwana wawe ashobora kurwara iyi ndwara, ni byiza kubanza kuvugana n'umujyanama mu by'uturemangingo mbere yo guteganya gutwita.

Ni ryari nkwiye kujyana umwana wanjye kwa muganga?

Niba umwana wawe uvutse agaragaza umunaniro ukabije cyangwa adashishikajwe no konsa , ugomba kumujyana kwa muganga w'abana ako kanya. Muganga ashobora no kukwohereza mu ishami ryita ku buzima bwihutirwa ry'ibitaro kugira ngo avurwe vuba. Icyaba gitera ibi bimenyetso, ni ngombwa ko ahita asuzumwa.

Ni ibihe bibazo ngomba kubaza muganga w'umwana wanjye?

Niba umwana wawe afite `(NKH)`, ushobora kwibaza ibi bibazo:

• Ni iyihe mpamvu yatumye habaho `(NKH)`?
• Ni ubuhe bwoko bwa `(NKH)` umwana wanjye afite?
• Ni ubuhe buryo bwo kuvura usaba?
• Ese hari ibizamini bishobora guhanura ubukana bw'iyi ndwara?
• Ni mu rugero rungana iki umwana wanjye ashobora gutera imbere mu mikurire ye (kugenda, kuvuga, ubwenge)?
• Ese umwana wanjye azagomba gufata imiti ubuzima bwe bwose?
• Ese abana banjye b'ejo hazaza nabo bashobora kugira `(NKH)`?
• Ese ushobora gutanga inama ku itsinda rishinzwe ubufasha?

Iyo umwana wawe asanzwe afite ikibazo cya Nonketotic Hyperglycinemia (NKH), amakuru ashobora gutera urujijo no gutera urujijo. Bishobora kuba bigoye kumenya ko umwana wawe afite indwara idakunze kugaragara kandi idakunze kuvurwa. Niba bishoboka, shaka itsinda rishinzwe gufasha imiryango y'abana bafite NKH. Kuganira n'abandi bahuye n'ibintu nk'ibyo ushobora guhura na byo bishobora kuguha imbaraga no kugufasha guhangana nabyo. Wibuke ko itsinda ry'abaganga b'umwana wawe rihari kugira ngo rigufashe muri buri ntambwe.

## Ibintu by'ingenzi ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

• (NKH) ni indwara idakunze kugaragara cyane kandi ikomeye iterwa n'uturemangingo .
• Ibi bituma chemical yitwa "glycine" yirundanya mu mubiri w'umwana, cyane cyane mu bwonko .
• Ibimenyetso bikunze gutangirira ku mwana akivuka bishobora kuba birimo gusinzira cyane, kugorwa no kurya, guhumeka nabi no gucika intege.
• Indwara ikomeye ya `(NKH)`Nubwo nta muti uhari, hari uburyo bwo kuvura bworoheje.
• Niba umwana wawe afite ibi bimenyetso, ni ngombwa ko uhita ushakira inama kwa muganga .
• Ntabwo uri wenyine muri uru rugendo. Shaka ubufasha ku ikipe yawe y'abaganga n'amatsinda y'abaterankunga . Imbaraga zawe zo mu mutwe nazo ni ingenzi cyane.

Ndizera ko aya makuru azagufasha. Ikintu cy'ingenzi muri ibi bihe bigoye ni ugukomeza gukomera.

` Indwara za hyperglycinemia zidasanzwe, NKH, Glycine, Indwara za Genetic, Indwara z'abana, Indwara z'imitsi, Ubusembwa bwa metabolisme