Mwana wako mudiki ane chirwere ichi chisingawanzoitiki here? (Nonketotic Hyperglycinemia - NKH) Ngatikurukurei nezveizvi

Mwana wako achangoberekwa anogara achirara here, asingafarire kuyamwisa? Kana kuti ari kunetseka kufema here? Zvakajairika kuti iwe semubereki unzwe kutya zvikuru paunoona zvinhu izvi. Dzimwe nguva, panogona kunge paine chirwere chakakomba, uye chisingawanzoitiki, chiri shure kwezviratidzo izvi. Chimwe chezvirwere zvakadaro i `(Nonketotic Hyperglycinemia)` kana `(NKH)`. Ngatitaurei nezvazvo zvakadzama uye nhasi.

Unoziva here zvinorehwa neshoko rekuti `(NKH)`?

Zvichitaurwa zviri nyore, ``Nonketotic Hyperglycinemia`` kana ``NKH`` chirwere chisingawanzoitiki chemajini . Chinoitika ndechekuti muviri wemwana wedu haugone kudzora kana kuputsa molekyuru inonzi ``glycine``` nemazvo.

Zvino ungave uchibvunza kuti chii chinonzi `(glycine)`. `(Glycine)` iamino acid `(amino acid)`. Kungofanana nezvidhinha zvinodiwa kuvaka chivako, aya maamino acid akakosha pakuvaka mapuroteni mumuviri wedu. Saka, kana muviri wemwana usingakwanise kudzora `(glycine)` nemazvo, inotanga kuungana muzvikamu zvakasiyana zvemuviri, kunyanya muuropi . Izvi zvinonzi `(hyperglycinemia)` kana huwandu hwe`(glycine)` hukawedzera zvisina kufanira. Izvi zvinogona kukonzera matambudziko makuru etsinga, coma, uye dzimwe nguva kunyange kufa mumwana.

Chikamu chezita rekuti "nonketotic" chinoreva kuti chakasiyana nezvimwe zvirwere zvinogona kukonzera kuwedzera kweglycine mumuviri. NKH inonziwo inborn error of metabolism . Idambudziko rinoitika pakuzvarwa uye rinokanganisa maitiro emamwe makemikari mumuviri asingaitike nemazvo. Rimwe zita reizvi iglycine encephalopathy.

Pane mimwe misiyano ye `(NKH)` here?

Ehe, vaongorori vanopatsanura NKH mumhando mbiri huru: yekare uye yakasiyana . Izvi zvinokonzerwa nemarudzi maviri ekuchinja mumajini. Mazita ekare uye akasiyana NKH anoreva kuti jini ripi rine mutation.

Mhando dzeClassical `(NKH)` dzakakamurwazve kuita mhando mbiri - dzakaoma uye dzakaderera . Idzi dzinorongwa zvichienderana nekuoma kwezviratidzo. Pamhando idzi , dzakaoma `(NKH)` ndiyo inonyanya kuwanikwa .

Dambudziko iri rakajairika zvakadii?

`(NKH)` chirwere chisingawanzoitiki . Pasi rose, mwana mumwe chete pavana 76,000 vanobatwa nechirwere ichi. Saka musavhunduka kana mukanzwa nezvazvo. Zvisinei, zvakakosha kuti muzive.

Ndezvipi zviratidzo zvechirwere che `(NKH)`?

Zviratidzo zvemhando dzakaoma nedzisina kusimba dze "NKH" zvinowanzotanga pakuzvarwa . Dzimwe nguva, zviratidzo zvinogona kuonekwa mukati memwedzi mishoma yekutanga yehupenyu.

Zviratidzo zvechirwere chakanyanya che `(NKH)`:

Zvinhu zvekutanga izvo vacheche vane `(NKH)` yakanyanya kurwara vangaona ndeizvi:

• Hope dzakanyanya (kuneta): Izvi zvinogona kuwedzera zvishoma nezvishoma zvoita kuti munhu anzwe kuda kurara.
• Kushaya simba kwetsandanyamaHypotonia: Mwana anogona kunzwa asina hupenyu.
• Matambudziko ekufema anotyisidzira hupenyu : Izvi zvinogona kuonekwa mumazuva ekutanga ehupenyu.

Kana ukadzivisa zviratidzo izvi zvepakutanga, unowanzoona zvinotevera:

• Kuomerwa nekunwa mukaka.
• Kumira kufema nguva nenguva (apnea).
• Kuremara kwepfungwa kwakanyanya .
• Kuoma kwetsandanyama zvisina kujairika (spasticity).
• Kubatwa nepfari kwakaoma kudzora .

Kazhinji, vana ava havakwanisi kuita zvinhu zvinoitwa pakukura kwavo, zvakaita sekukambaira, kubata chitoyi, kugara pasi, uye kunwa kubva mubhodhoro. Kunyangwe vakadzidza chimwe chinhu, hunyanzvi ihwohwo hunogona 'kudzokera shure' nekufamba kwenguva. Fungidzira kuti izvozvo zvinosuwisa sei kuvabereki.

Hunhu hweAttenuated NKH:

Zviratidzo zveNKH isina kusimba zvakanyanya pane zveNKH yakaoma, asi zvinowanzofanana. Vana vane NKH isina kusimba vanowanzosvika padanho ravo rekukura, asi kugona kwavo kunogona kusiyana zvakanyanya . Kukura kunogona kunonoka, asi vana vazhinji vanozopedzisira vadzidza kufamba nekutaura nevamwe. Vamwe vana vane pfari, asi izvi zvinowanzova zvishoma uye zvinorapika. Pamusoro pezvo, zviratidzo zvakaita sekufamba-famba kusingatarisirwi (chorea), kuomarara kwetsandanyama (spasticity), uye kusagadzikana zvakanyanya (hyperactivity) zvinogonawo kuonekwa.

Chii chinokonzera kuti vacheche vakure `(NKH)`?

Chikonzero chikuru cheizvi kuchinja kwemajini, kana kuti kuchinja kwemajini . Zvikuru sei, vanhu vanosvika 80% vanokonzerwa nekuchinja kwemajini kunonzi `(GLDC)`. Vamwe vese vanokonzerwa nekuchinja kwemajini kunonzi `(AMT)`.

Majini aya e`(GLDC)` ne`(AMT)` anorayira muviri wedu kuti ugadzire `(enzymes)`. Aya `(enzymes)` anoshanda pamwe chete seboka. Boka iri rinonzi `(glycine cleavage system )`. Izvi zvinoita kuti kana tisingade `(glycine)`, riipatsanure kuita zvidimbu zvidiki. Kana huwandu hwe`(Glycine)` hukawedzera, hunokanganisa mashandiro ehuropi.

Saka, kana paine shanduko mune chero yemajini maviri aya, zvinova zvakaoma kuti miviri yedu iparadze glycine. Mamwe machinjiko anoderedza mashandiro eiyi glycine cleavage system, nepo mamwe achiibvisa zvachose. Kana iyi system isingashande nemazvo, glycine yakawedzerwa inoungana munhengo dzemwana, kunyanya uropi. Masayendisiti achiri kusaziva kuti kusarongeka uku kunobatsira sei kuzviratidzo zveNKH.

Chirwere ichi ``(NKH)`` chinogara nhaka mu``autosomal recessive pattern``. Izvi zvinoreva kuti makopi ese ari maviri ejini musero rega rega anofanira kunge aine mutation. Kazhinji, vabereki vese vemunhu ane ``(NKH)`` vane kopi imwe chete yejini iri rakachinja, asi havaratidzi zviratidzo.

Vanachiremba vanoongorora sei chirwere che `(NKH)`?

Kuti aongorore `(NKH)`, chiremba wemwana wako achatanga aita bvunzo yemuviri uye onyatsoongorora zviratidzo. Zvadaro,

• Huwandu hwe `(glycine)` mu cerebrospinal fluid (`(Cerebral Spinal Fluid - CSF)`) uye plasma yeropa `(plasma)` hunoedzwa. Kana basa re`(enzyme)` rataurwa pamusoro apa raderera, huwandu hwe`(glycine)` mu`(CSF)` uye plasma hunowedzera. Uyewo, chiyero chiri pakati pehuwandu hwe`(glycine)` mu`(CSF)` uye huwandu hwe`(glycine)` muplasma chinowedzerawo.
• Kuongororwa kweuropi neMRI kunobatsirawo zvikuru, sezvo kuchigona kuratidza maitiro chaiwo ekuchinja muuropi hwevacheche vane NKH.
• Kuongororwa kwemajini kunogonawo kutarisa shanduko dziri mune rimwe remajini maviri anokonzera NKH.
• Kashoma, chidimbu chidiki chechiropa chinogona kutorwa kuti chiongororwe (biopsy yechiropa) kuti chisimbiswe chirwere chacho.

Ndezvipi zvinorapwa zve `(NKH)`?

Nekuti vacheche vane `(Nonketotic Hyperglycinemia)` vanowanzo kurwara zvakanyanya, vanofanirwa kurapwa mu`(Neonatal Intensive Care Unit - NICU)` . Mu`(NICU)`, mwana wako achawana rubatsiro rwepamusoro uye kurapwa.

Zvinosuwisa kuti parizvino hapana mushonga we `(NKH)` yakakomba . Zvisinei, kune vacheche vane mhando dzisina kusimba dze `(NKH)`, mamwe marapirwo anogona kubatsira. Marapirwo aya anofanira kupiwa nekukurumidza uye nechisimba kuti anyatsobudirira.

Kurapa uku kunogona kuitwa kwega kana pamwe chete:

• Mishonga inoderedza huwandu hwe `(glycine)` mumuviri wemwana (semuenzaniso `(sodium benzoate)` ).
• Mishonga inoshanda inopesana nekushanda kwe `(glycine)` mune mamwe masero etsinga (semuenzaniso `(ketamine)` kana `(dextromethorphan)` ).

Kudzora pfari kwakakoshawo zvikuru. Kupfari kunogona kuoma kudzora nemishonga yakajairika. Kuti urapwe zvakanaka, ungangoda kusanganisa mishonga yakati wandei, uye mimwe mishonga, yakaita sevalproic acid, ingangoda kudzivirirwa. Kudya ketogenic kunogonawo kubatsira kudzora pfari.

Kurapa kwezvimwe zviratidzo zve `(NKH)`:

• Kufefetera kwemuchina.
• Chubhu inopinzwa mudumbu kuti ipe chikafu (gastrostomy tube).
• Kurapa muviri.
• Kupindira nekukurumidza uye rutsigiro rwakawedzerwa.

Kana uchikwanisa, bvunza chiremba wako nezve mukana wekutora chikamu mukuyedzwa kwekiriniki .

Munhu ane `(NKH)` anorarama kwenguva yakareba sei?

Zvakaoma kutaura kuti munhu ane NKH anogona kurarama kwenguva yakareba sei. Izvi zvinodaro nekuti kune majini akasiyana-siyana uye kuoma kwechirwere ichi kunosiyana zvikuru. Zvisinei, Foundation for Nonketotic Hyperglycinemia inofungidzira kuti 80% yevana vane chirwere ichi havararami nguva yekuzvarwa (mwedzi wekutanga wehupenyu) . Kunyangwe vakararama nguva yekuzvarwa, vana vazhinji vane NKH yakanyanya havararami kupfuura makore mashanu. Chikwata chevanachiremba chemwana wenyu chichakwanisa kukupai pfungwa iri nani yeizvi. Vimbai neruzivo rwavo nerutsigiro rwavo. Ndinonzwisisa kuti zvakaoma sei kunzwa izvi.

Chirwere ichi chinogona kudzivirirwa here?

Kwete. (NKH) chirwere chemajini uye hachigone kudzivirirwa . Kana uchinetseka kuti mwana wako anogona kugara nhaka chirwere ichi, zvakanaka kutaura nenyanzvi yezvemajini usati waronga kubata pamuviri.

Ndinofanira kuenda nemwana wangu kuna chiremba riini?

Kana mwana wako achangoberekwa achiratidza kuneta zvakanyanya kana kuti asingade kuyamwisa , unofanira kumuendesa kuna chiremba wevana nekukasika. Chiremba anogonawo kukutumira kuchipatara kuti unorapwa nekukurumidza. Chero chikonzero chezviratidzo izvi, zvakakosha kuti umuongorore nekukasika.

Mibvunzo ipi yandinofanira kubvunza chiremba wemwana wangu?

Kana mwana wako aine `(NKH)`, ungada kubvunza mibvunzo iyi:

• Chii chakaita kuti pave nekuumbwa kwe `(NKH)`?
• Mwana wangu ane rudzii rwe `(NKH)`?
• Ndedzipi nzira dzekurapa dzamunokurudzira?
• Pane here bvunzo dzinogona kufanotaura kuoma kwechirwere ichi?
• Mwana wangu anogona kufambira mberi kusvika papi panyaya yekukura (kufamba, kutaura, njere)?
• Mwana wangu achafanira kunwa mushonga kweupenyu hwake hwese here?
• Vana vangu vemangwana vanogonawo kukura `(NKH)` here?
• Unogona kukurudzira boka rekutsigira here?

Kana mwana wako akaonekwa kuti ane Nonketotic Hyperglycinemia (NKH), nhau dzinogona kukushamisa uye kukuvhiringa. Zvinogona kuva zvakaoma kuziva kuti mwana wako ane chirwere chisingawanzoitiki chine mishonga mishoma. Kana zvichibvira, tsvaga boka rekutsigira mhuri dzine vana vane NKH. Kutaura nevamwe vakambosangana nezvinhu zvakafanana newe kunogona kukupa simba uye kukubatsira kutsungirira. Yeuka, timu yevanachiremba yemwana wako iripo kuti ikutsigire nhanho imwe neimwe yenzira.

## Zvinhu Zvakakosha Kuyeuka (Meseji Yekuenda Nayo Kumba)

• (NKH) chirwere chisingawanzoitiki uye chakakomba chemajini .
• Izvi zvinokonzera kuti kemikari inonzi ``glycine'' iungane mumuviri wemwana, kunyanya muuropi .
• Zviratidzo zvinowanzotanga pakuzvarwa uye zvinogona kusanganisira kurara zvakanyanya, kunetseka kudya, kunetseka kufema, uye pfari.
• Dambudziko guru re `(NKH)`Kunyange hazvo pasina mushonga, kune mamwe marapirwo asina kunyanya kuoma.
• Kana mwana wako aine zviratidzo izvi, zvakakosha kutsvaga rubatsiro rwechiremba nekukasika .
• Hausi wega uri parwendo urwu. Tsvaga rubatsiro kubva kuchikwata chako chekurapa nemapoka ekutsigira . Simba rako repfungwa rakakoshawo zvikuru.

Ndinovimba ruzivo urwu ruchakubatsira. Chinhu chinonyanya kukosha munguva dzino dzakaoma ndechekuramba wakasimba.

` Nonsetotic Hyperglycinemia, NKH, Glycine, Zvirwere zveMajini, Zvirwere zveVana, Matambudziko eHuropi, Zvirwere zveMetabolic