Ingabe ingane yakho encane inalesi sifo esingavamile? (Nonketotic Hyperglycinemia - NKH) Ake sixoxe ngalokhu

Ingabe ingane yakho esanda kuzalwa ihlala ilele, ayinasithakazelo sokuncelisa? Noma ingabe inenkinga yokuphefumula? Kujwayelekile ngawe njengomzali ukuzizwa wesaba kakhulu uma ubona lezi zinto. Ngezinye izikhathi, kungaba nesimo esingathi sína, nesingavamile, ngemuva kwalezi zimpawu. Esinye salezi zimo yi-`(Nonketotic Hyperglycinemia)` noma `(NKH)`. Ake sixoxe ngalokhu ngokuningiliziwe nanamuhla.

Uyazi ukuthi kusho ukuthini ukuthi `(NKH)`?

Kalula nje, "i-Nonketotic Hyperglycinemia" noma "i-NKH" yisimo esingavamile kakhulu sofuzo . Okwenzekayo ukuthi umzimba womntwana wethu awukwazi ukulawula noma ukuphula kahle i-molecule ebizwa ngokuthi "i-glycine".

Manje ungase uzibuze ukuthi iyini i-`(glycine)`. I-`(Glycine)` iyi -amino acid `(amino acid)`. Njengoba nje izitini zidingeka ukwakha isakhiwo, lawa ma-amino acid abalulekile ekwakheni amaprotheni emzimbeni wethu. Ngakho-ke, lapho umzimba womntwana ungakwazi ukulawula kahle le `(glycine)`, iqala ukunqwabelana ezingxenyeni ezahlukene zomzimba, ikakhulukazi ebuchosheni . Lokhu kubizwa ngokuthi `(hyperglycinemia)` lapho izinga le-`(glycine)` landa ngokungadingekile. Lokhu kungabangela izinkinga ezinkulu zezinzwa, i-coma, futhi ngezinye izikhathi ngisho nokufa enganeni.

Ingxenye "engeyona eye-ketotic" yaleli gama ibhekisela eqinisweni lokuthi ihlukile kwezinye izifo ezingabangela ukwanda kwe-glycine emzimbeni. I-NKH ibizwa nangokuthi iphutha lokuzalwa lokuguqulwa kwe-metabolism . Yisimo esenzeka ekuzalweni futhi esithinta indlela ukusabela okuthile kwamakhemikhali emzimbeni ongenzeki ngayo kahle. Elinye igama lalokhu yi-glycine encephalopathy.

Ingabe kukhona izinhlobo ze-`(NKH)`?

Yebo, abacwaningi bahlukanisa i-NKH ngezinhlobo ezimbili eziyinhloko: i-classical kanye ne-variant . Lokhu kubangelwa izinhlobo ezimbili zezinguquko ezakhiweni zofuzo. Amagama athi i-classical kanye ne-variant i-NKH abhekisela kuliphi i-gene elinokuguqulwa.

I-Classical `(NKH)` ihlukaniswe kabili ngezinhlobo ezimbili - ezinzima nezinciphile . Lezi zihlukaniswa ngokobunzima bezimpawu. Kulezi , i-`(NKH)` enzima iyona evame kakhulu .

Sivame kangakanani lesi simo?

`(NKH)` yisifo esingavamile kakhulu . Emhlabeni wonke, cishe ingane eyodwa kwezingu-76,000 ithintwa yilesi sifo. Ngakho-ke ungakhathazeki uma uzwa ngalokhu. Kodwa-ke, kubaluleke kakhulu ukuqaphela.

Ziyini izimpawu zesifo `(NKH)`?

Izimpawu zezinhlobo ezimbili ze-"NKH" ezinzima nezincane zivame ukuqala lapho umuntu ezalwa . Ngezinye izikhathi, izimpawu zingase zivele ezinyangeni ezimbalwa zokuqala zokuphila.

Izimpawu zesimo esibi kakhulu se-`(NKH)`:

Izinto zokuqala izingane ezine-`(NKH)` ezinzima ezingase ziqaphele yilezi:

• Ukozela ngokweqile (ukudinwa): Lokhu kunganda kancane kancane futhi kuqhubekele ekubeni yi-coma.
• Ubuthakathaka bemisiphaI-Hypotonia: Ingane ingase izizwe ingaphili.
• Ubunzima bokuphefumula obusongela impilo : Lokhu kungabonakala ezinsukwini zokuqala zokuphila.

Uma ugwema lezi zimpawu zokuqala, uzovame ukubona okulandelayo:

• Ubunzima bokuphuza ubisi.
• Ukuyeka ukuphefumula ngezikhathi ezithile (i-apnea).
• Ukukhubazeka okukhulu kwengqondo .
• Ukuqina kwemisipha okungavamile (ukuqaqamba).
• Ukuquleka okunzima ukukulawula .

Ngokuvamile, laba bantwana abakwazi ukwenza izinyathelo ezijwayelekile zokukhula, njengokukhasa, ukubamba ithoyizi, ukuhlala phansi, nokuphuza ebhodleleni. Ngisho noma befunda okuthile, lawo makhono 'angabuyela emuva' ngokuhamba kwesikhathi. Cabanga ukuthi lokho kudabukisa kangakanani kubazali.

Izici ze-Attenuated NKH:

Izimpawu ze-NKH encane azinzima kangako kuneze-NKH enzima, kodwa zivame ukufana. Izingane ezine-NKH encane zivame ukufinyelela izigaba zazo zokukhula, kodwa amakhono azo angahluka kakhulu . Intuthuko ingase ibambezeleke, kodwa izingane eziningi ekugcineni zifunda ukuhamba nokukhuluma nabanye. Ezinye izingane ziba nokuxhuzula, kodwa lokhu kuvame ukuba lula futhi kuyalapheka. Ngaphezu kwalokho, izimpawu ezifana nokunyakaza okungazikhetheli (chorea), ukuqina kwemisipha (spasticity), kanye nokusebenza ngokweqile (hyperactivity) nazo zingabonakala.

Yini ebangela ukuba izingane zikhule `(NKH)`?

Imbangela eyinhloko yalokhu izinguquko ezakhiweni zofuzo, noma eziguqukweni . Ikakhulukazi, cishe ama-80% eziguli abangelwa izinguquko ezakhiweni zofuzo ezibizwa ngokuthi `(GLDC)`. Ezinye zibangelwa izinguquko ezakhiweni zofuzo ezibizwa ngokuthi `(AMT)`.

Lezi zakhi zofuzo ze-`(GLDC)` kanye ne-`(AMT)` ziyala umzimba wethu ukuthi wenze `(ama-enzyme)` athile. Lawa `(ama-enzyme)` asebenza ndawonye njengeqembu. Leli qembu libizwa ngokuthi `( uhlelo lokuqhekeka kwe -glycine)`. Lokhu okwenzayo ukuthi uma singadingi `(glycine)`, liyihlukanisa ibe yizingxenye ezincane. Lapho inani le-`(Glycine)` landa, liphazamisa ukusebenza kobuchopho.

Ngakho-ke, uma kukhona uguquko kunoma yiliphi lala ma-gene amabili, kuba nzima ngemizimba yethu ukuphula i-glycine. Ezinye izinguquko zinciphisa ukusebenza kwalolu hlelo lokuqhekeka kwe-glycine, kanti ezinye ziyaluqeda ngokuphelele. Uma lolu hlelo lungasebenzi kahle, i-glycine eyengeziwe iyanda ezithweni zomntwana, ikakhulukazi ebuchosheni. Ososayensi abakakazi kahle ukuthi lokhu kuphazamiseka kunomthelela kanjani ezimpawini ze-NKH.

Lesi sifo ``(NKH)`` sizuzwe njengefa ``ngephethini yokubuyisa i-autosomal``. Lokhu kusho ukuthi womabili amakhophi esakhi sofuzo esiseleni ngasinye kumele abe nokuguqulwa. Ngokuvamile, bobabili abazali bemvelo bomuntu one-``(NKH)`` banekhophi eyodwa yalesi sakhi sofuzo esiguquliwe, kodwa ababi nezimpawu.

Odokotela basithola kanjani isifo `(NKH)`?

Ukuze axilonge `(NKH)`, udokotela wengane yakho uzoqala enze ukuhlolwa ngokomzimba bese ebheka izimpawu ngokucophelela. Bese,

• Izinga le-`(glycine)` ku-cerebrospinal fluid (`(Cerebral Spinal Fluid - CSF)`) kanye ne-plasma yegazi`(plasma)` liyahlolwa. Lapho umsebenzi we-`(enzyme)` eshiwo ngenhla wehla, izinga le-`(glycine)` ku-`(CSF)` kanye ne-plasma liyakhuphuka. Futhi, isilinganiso phakathi kwezinga le-`(glycine)` ku-`(CSF)` kanye nezinga le-`(glycine)` ku-plasma naso siyakhula.
• Ukuskena kobuchopho nge-MRI nakho kuyasiza kakhulu, njengoba kungabonisa iphethini ethile yezinguquko ebuchosheni bezingane ezine-NKH.
• Ukuhlolwa kwezakhi zofuzo kungahlola nokuguquka kwezakhi zofuzo kwenye yezakhi zofuzo ezimbili ezibangela i-NKH.
• Akuvamile kakhulu ukuthi kuthathwe ingxenye encane yesibindi ukuze ihlolwe (i-liver biopsy) ukuqinisekisa ukuxilongwa.

Yiziphi izindlela zokwelapha `(NKH)`?

Ngenxa yokuthi izingane ezine-`(Nonketotic Hyperglycinemia)` zivame ukugula kakhulu, zidinga ukwelashwa `(Iyunithi Yokunakekelwa Okujulile Kwezingane Ezisanda Kuzalwa - NICU)` . Ku-`(NICU)`, ingane yakho izothola ukunakekelwa nokwelashwa okusezingeni eliphezulu.

Ngeshwa, okwamanje alikho ikhambi le-`(NKH)` elibi kakhulu . Kodwa-ke, ezinganeni ezinezinhlobo ze-`(NKH)` ezithambile, ezinye izindlela zokwelapha zingaba usizo. Lezi zindlela zokwelapha kudingeka zinikezwe kusenesikhathi futhi ngobudlova ukuze ziphumelele kakhulu.

Lezi zindlela zokwelapha zinganikezwa zodwa noma zihlanganiswe ndawonye:

• Imithi ehlisa izinga le-`(glycine)` emzimbeni wengane (isb. `(sodium benzoate)` ).
• Izidakamizwa ezisebenza ngokumelene nomsebenzi we-`(glycine)` kumaseli athile ezinzwa (isb. `(ketamine)` noma `(dextromethorphan)` ).

Ukulawula ukuxhuzula nakho kubaluleke kakhulu. Ukuxhuzula kungaba nzima ukukulawula ngemithi ejwayelekile. Ukuze uthole ukwelashwa okuphumelelayo, kungadingeka uhlanganise imithi eminingana, kanti eminye imithi, njenge- valproic acid, kungadingeka igwenywe. Ukudla okune-ketogenic kungasiza futhi ekulawuleni ukuxhuzula.

Ukwelashwa kwezinye izimpawu ze-`(NKH)`:

• Umoya womoya osebenza ngomshini.
• Ipayipi elifakwa esiswini ukuze linikeze ukudla (ipayipi le-gastrostomy).
• Ukwelashwa ngokomzimba.
• Ukungenelela kusenesikhathi kanye nokusekelwa okwengeziwe.

Uma ungakwazi, buza udokotela wakho mayelana nethuba lokubamba iqhaza ocwaningweni lwezokwelapha .

Ingakanani impilo yomuntu one-`(NKH)`?

Kunzima ukusho ukuthi umuntu one-NKH angaphila isikhathi esingakanani. Lokhu kungenxa yokuthi kunezinhlobo eziningi zofuzo ezishintshashintshayo futhi ubukhulu besifo buyahlukahluka kakhulu. Kodwa-ke, i-Foundation for Nonketotic Hyperglycinemia ilinganisela ukuthi u-80% wezingane ezinesifo azisindi esikhathini sokuzalwa (inyanga yokuqala yokuphila) . Ngisho noma zisinda esikhathini sokuzalwa, izingane eziningi ezine-NKH enzima aziphili ngaphezu kweminyaka emi-5. Ithimba lezokwelapha lengane yakho lizokwazi ukukunikeza umbono ongcono ngalokhu. Thembela olwazini lwabo kanye nokusekelwa kwabo. Ngiyaqonda ukuthi kunzima kangakanani ukuzwa lokhu.

Ingabe lesi sifo singavinjelwa?

Cha. (I-NKH) yisimo sofuzo futhi asinakuvinjelwa . Uma ukhathazekile ngokuthi ingane yakho ingase ithole lesi simo njengefa, kuwumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo ngaphambi kokuhlela ukukhulelwa.

Kufanele ngiyise nini ingane yami kudokotela?

Uma ingane yakho esanda kuzalwa ibonisa ukudinwa ngokweqile noma ingenaso isifiso sokuncelisa , kufanele uyiyise kudokotela wezingane ngokushesha. Udokotela angase futhi akuthumele emnyangweni wezimo eziphuthumayo wesibhedlela ukuze uthole ukwelashwa okusheshayo. Kungakhathaliseki ukuthi iyini imbangela yalezi zimpawu, kubalulekile ukuyihlola ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Uma ingane yakho ine-`(NKH)`, ungase ufune ukubuza le mibuzo:

• Iyini imbangela yokwakheka kwe-`(NKH)`?
• Yiluphi uhlobo lwe-`(NKH)` ingane yami enalo?
• Yiziphi izindlela zokwelapha ozincomayo?
• Ingabe kukhona ukuhlolwa okungabikezela ubucayi balesi sifo?
• Ingane yami ingathuthuka kangakanani ngokwentuthuko (ukuhamba, ukukhuluma, ukuhlakanipha)?
• Ingabe ingane yami kuzodingeka iphuze imithi impilo yayo yonke?
• Ingabe izingane zami zesikhathi esizayo nazo zingaba `(NKH)`?
• Ungancoma iqembu lokusekelana?

Uma ingane yakho itholakala ine-Nonketotic Hyperglycinemia (NKH), izindaba zingaba yinto eshaqisayo futhi ebangela ukudideka. Kungaba yinto exakile ukuzwa ukuthi ingane yakho inesifo esingavamile esingelashwa kakhulu. Uma kungenzeka, thola iqembu lokusekela imindeni yezingane ezine-NKH. Ukukhuluma nabanye abaye badlula ezintweni ezifanayo nawe kungakunika amandla futhi kukusize ubhekane nazo. Khumbula, ithimba lezokwelapha lengane yakho likhona ukukusekela kuzo zonke izinyathelo zendlela.

## Izinto Ezibalulekile Okufanele Uzikhumbule (Umyalezo Ofanele Uwuthathe Uhambe Nawe Ekhaya)

• (NKH) yisifo esingavamile kakhulu nesiyingozi kakhulu esibangelwa izakhi zofuzo .
• Lokhu kubangela ukuthi ikhemikhali ebizwa ngokuthi "i-glycine" iqoqeke emzimbeni wengane, ikakhulukazi ebuchosheni .
• Izimpawu zivame ukuqala lapho umntwana ezalwa futhi zingabandakanya ukozela ngokweqile, ubunzima bokudla, ubunzima bokuphefumula, kanye nokuxhuzula.
• Isimo esibucayi `(NKH)`Nakuba kungekho ukwelashwa, kunezindlela zokwelapha ezithambile.
• Uma ingane yakho inalezi zimpawu, kubalulekile ukufuna iseluleko sikadokotela ngokushesha .
• Awuwedwa kulolu hambo. Thola usizo eqenjini lakho lezokwelapha kanye namaqembu okusekela . Amandla akho engqondo nawo abaluleke kakhulu.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Into ebaluleke kakhulu kulezi zikhathi ezinzima ukuhlala uqinile.

I- Non-ketotic Hyperglycinemia, i-NKH, i-Glycine, Izifo Zofuzo, Izifo Zobuntwana, Izinkinga Zezinzwa, Amaphutha E-Metabolic