Mwana wenyu ane bvudzi rakamonana risinganzwisisike here? Ngatidzidzei nezveMenkes Disease!

Wakamboona here kuti bvudzi remwana wako mudiki rinoshamisa, rakamonana sewaya, rine ruvara rwakajeka, uye rinotyoka nyore nyore? Kana kuti muviri wemwana wako unonzwa wakasununguka uye uchitonhora here? Kunyangwe izvi zviri zvinhu zvatisinganyatso tarisire, zvinogona kuva zviratidzo zvekutanga zvezvirwere zvisingawanzoitiki. Semuenzaniso, chirwere chinogona kuitika muvacheche, asi chisingataurwi zvakanyanya, chinonzi Menkes Disease. Ngatitaurei nezvazvo zvakadzama nhasi.

Chii chinonzi Menkes Disease? Zvichitaurwa zviri nyore...

Chirwere chaMenke chirwere chinokonzerwa nemajini . Zvinoreva kuti mwana anozvarwa nacho. Chinoitika apa ndechekuti muviri haugone kushandisa mhangura zvakanaka. Iye zvino ungave uchifunga kuti, "Mhangura inobatsirei?" Kutaura zvazviri, mhangura chinhu chinobatsira masisitimu mazhinji akakosha mumuviri wedu kushanda zvakanaka. Funga nezvazvo:

• Sisitimu yedu yetsinga (ndiko kuti, uropi netsinga dzinofamba mumuviri wese) dzinofanira kushanda zvakanaka.
• Simbisai mapfupa edu.
• Dai bvudzi redu neganda redu zviine hutano.
• Mitsipa yedu yeropa (kwainopinda ropa) inofanira kushanda zvakanaka.

Mhangura inokosha pane zvese izvi. Saka, sezvo muviri wemwana ane chirwere cheMenkes usingashandise mhangura iyi nemazvo, inogona kukonzera kukuvara kukuru, kunyanya kuhurongwa hwetsinga. Izvi zvinokonzera kukura kwemwana kunonoka uye muviri ushaye simba. Chinosuwisa ndechekuti, chirwere ichi chinogona kutyisidzira hupenyu .

Muchirwere ichi, vhudzi remwana rinoita serakakombama zvisinganzwisisike uye rinoita sewaya, saka vamwe vanhu vanoti "chirwere chebvudzi rakakombama."

Chinhu chakakosha ndechekuti hapasati pava nemushonga wakakwana weizvi. Zvisinei, kana kurapwa nemhangura kukatanga mukati memavhiki mana ekutanga ekuzvarwa kwemwana, zvinokwanisika kuderedza zviratidzo uye kuwedzera hupenyu hwemwana zvishoma. Saka, kuongororwa kwekutanga kwakakosha zvikuru.

Chirwere cheMenkes chakajairika zvakadii?

Pasi rose, zvaimbofungidzirwa kuti mwana mumwe chete pavana 100,000 vachangoberekwa anogona kunge aine chirwere ichi. Izvi zvinoreva kuti munhu mumwe chete pavanhu 2 nehafu vari muvanhu.

Zvisinei, chidzidzo chitsva chakaitwa muna 2020 chichishandisa data kubva kuGenome Aggregation Database chakaratidza kuti nhamba iyi inogona kunge yakakwira zvakanyanya. Saka, zvinonzi mumwe chete pavana 8,664 vechirume muUnited States chete, kana kuti vacheche vanosvika 225 pagore, anogona kunge aine chirwere ichi.

Kana nzira dzekuongorora vana vacheche dzikagadziriswa mune ramangwana, nhamba idzi dzichasimbiswa zvakare uye zvichakwanisika kuziva chirwere ichi nekukurumidza uye kutanga kurapwa.

Ndiani ane mukana mukuru wekuwana chirwere ichi?

Chirwere cheMenkes chinowanzoitika muvakomana.Ndiyo inonyanya kukanganisa. Asi inogona kukanganisa chero rudzi, chero rudzi.

Ndezvipi zviratidzo zvechirwere cheMenkes?

Vacheche vane chirwere cheMenkes dzimwe nguva vanogona kuzvarwa nguva isati yakwana . Vanogona kuita sevane hutano hwakanaka pakuzvarwa kwavo.

Zvisinei, zviratidzo zvekutanga zvinotanga kuoneka pazera remwedzi miviri kusvika mitatu . Izvi ndeizvi:

• Vhudzi rakakombama imhando yebvudzi rakamonana, rakamonana, uye rakatenderera. Vhudzi iri rine ruvara rwakajeka, dzimwe nguva richena kana kuti grey. Rinotyokawo zviri nyore.
• Kuderera kwetsinga dzemuviri (Hypotonia): Izvi zvinoreva kuti muviri wemwana wakaremara zvikuru. Unoita seusina hupenyu.
• Kupisa muviri kwakaderera (Hypothermia): Muviri wemwana unonzwa uchitonhora nguva dzese.
• Chiso chacho chinotaridzika sechakakotama .
• Zviratidzo zvepfari (pfari/pfari) , kureva zvirwere zvakaita sepfari.
• Kukura zvishoma nezvishoma uye kutadza kukura zvakanaka: Mwana haasi kukura zvakanaka uye haasi kuwedzera uremu .
• Kutsvuka kweganda nemaziso (jaundice).

Zviratidzo izvi hazvionekwi mucheche wese panguva imwe chete. Dzimwe nguva, kunyange zvisingawanzoitiki, zviratidzo izvi zvinogona kuonekwa pazera rehudiki kana kunyange pazera rekuyaruka.

Ndezvipi zvinetso zvinogona kuitika neMenkes Syndrome?

Menkes Syndrome chirwere chinoparadza tsinga zvishoma nezvishoma . Izvi zvinoreva kuti nekufamba kwenguva, matambudziko ekufunga anokura muuropi nepfungwa. Vana nevakuru vane chirwere ichi vanogona kuva nematambudziko akadai se:

• Matambudziko akaita sekubuda ropa muuropi (subdural hematomas) .
• Diverticulosis ikukura kwemabhegi madiki anobuda mumadziro eura kana dundira.
• Kuumbwa kwemapfupa madiki (mapfupa eWormian) mudehenya.
• Kurasikirwa nehunyanzvi hwekufambisa makumbo .
• Osteoporosis chirwere chinoita kuti mapfupa asashande zvakanaka uye asave nyore kupwanyika, zvichiita kuti zvive nyore kutyoka.
• Chirwere chekurwadza kwetsinga dzeropa .

Pane chimwe chinhu chakakosha kutaura pano. Dzimwe nguva, kana mwana achibuda ropa muuropi kana mapfupa akatyoka, vanachiremba vanogona kufungidzira kuti mwana ari kushungurudzwa. Kana uchiziva kuti mwana wako ari munzvimbo yakachengeteka, asi ari kuratidza zviratidzo izvi, taura nachiremba wako mokurukura nezvekuongororwa chirwere cheMenkes.

Chii chinonzi Occipital Horn Syndrome (OHS)?

Occipital Horn Syndrome (OHS) chirwere cheMenkes chisina kunyanya kuipa .Izvi zvinoreva kuti zviratidzo zvacho hazvina kunyanya kuipa. Zvinowanzoonekwa kana mwana ari pakati pemakore mashanu negumi.

Kuwedzera kune zviratidzo zvishoma zveMenkes Disease, vana vane OHS vanogonawo kusangana ne:

• Nyanga dzeOccipital: Idzi imhando dzakaita senyanga dzakaumbwa necalcium deposits pasi pedehenya.
• Kusagadzikana kwemuviri: Dambudziko retsinga rinokanganisa zvinhu zvakaita seBP uye kugadzikana kwemuviri.
• Mapfundo neganda zvinorerukira.
• Matambudziko madiki ane chekuita nekugona kufunga.

Chii chinokonzera chirwere cheMenkes?

Sezvatakambotaura, chirwere cheMenkes chirwere chemajini . Kureva kuti, chinowanikwa pakuzvarwa. Muzvikamu zviviri muzvitatu zvezviitiko, chinokonzerwa nejini risina kunaka rinobva kuna amai . Muzvikamu chimwe muzvitatu zvezviitiko, chirwere ichi chinokonzerwa nekuchinja kutsva mujini rinonzi ATP7A.

Jini rinokonzera chirwere ichi rinonzi `ATP7A`, iro rinokanganisa kugadzirwa kwepuroteni inodzora huwandu hwemhangura mumuviri wedu. Saka kana jini iri re`ATP7A` rikasashanda zvakanaka, muviri wedu haugone `kutakura` mhangura zvakanaka.

Vakomana vane mukana mukuru wekugara nhaka jini iri nekuti Menkes Syndrome chirwere chemajini chakabatana neX . Vakomana vane chromosome imwe chete yeX. Saka kana paine jini rakakanganisika pairi, chirwere chinokura. Vasikana vane machromosome maviri eX, saka kuti vakure chirwere ichi, majini ese ari maviri akakanganisika anofanira kugara nhaka.

Vanachiremba vanoongorora sei chirwere cheMenkes?

Kuti vaongorore chirwere cheMenkes, chiremba achatanga aongorora mwana. Kunyanya, vachatarisa bvudzi rakamonana uye rakamonana . Vachabvunzawo nezvezviratidzo uye nhoroondo yezveutano hwemhuri. Mwana anogonawo kuongororwa kuti aone kana aine:

• Kuongororwa kweropa: Kunotorwa sampuro yeropa kuti kuonekwe kana paine huwandu hwakaderera hwemhasuru, ceruloplasmin (puroteni inotakura mhangura), uye catecholamines, mahormone anobatsira kudzora kufamba kwetsandanyama nemanzwiro.
• Kuongororwa kweCT kana X-ray: Izvi zvinotsvaga mapfupa madiki, akakombama (mapfupa ewormian) mudehenya remwana. Izvi zvinokonzerwa nematambudziko ekubatana kwenhengo dzemuviri anokonzerwa nekushaikwa kwemhangura.
• Kuongororwa kweganda: Sampuro diki yeganda remwana inotorwa yoongororwa nemaikorosikopu kuti ione kuti muviri wemwana unoshandisa sei mhangura.
• Ultrasound: Iyi inoshandiswa kuongorora dundira. Diverticula, inova mapaketi anobuda mudundira, idambudziko rinowanzoitika reMenkes Syndrome.
• Kuongororwa kweweti: Kuongororwa uku kunoongorora huwandu hwakawanda hwemamwe maasidhi (HVA/VMA) muweti. Huwandu hwemaasidhi aya hunosiyana zvichienderana nebasa re enzyme inoenderana nemhangura.

Mwana wangu anogona kuongororwa majini echirwere cheMenkes here?

Vaongorori vachiri kuedza kutsvaga nzira itsva dzekuona chirwere cheMenkes nekukurumidza. Kuongororwa kwemajini kunotsvaga shanduko mumajini eATP7A ndeimwe nzira yekuita izvi.

Vanachiremba vanorapa sei chirwere cheMenkes?

Kuti kurapwa kubudirire, kunofanira kutanga mukati memazuva 25 kusvika 28 ekuzvarwa . Kubudirira kwekurapa kunoenderana nekuti kuchinja kuri mujini re'ATP7A' kwakaoma sei.

Vanachiremba vanopa vana vane chirwere cheMenkes mushonga wemhangura unonzi copper histidine sejekiseni repasi peganda . Chinangwa chekurapa uku ndechekuwedzera huwandu hwemhangura muropa. Zvinogonawo kubatsira kuderedza kukuvara kwetsinga, kuderedza zvirwere zvakaita sepfari, uye kuwedzera hupenyu hwemwana.

Ndingabata sei zviratidzo zvemwana wangu?

Nekuti hapasati pave nemushonga weMenkes Disease, vanachiremba vanonyanya kutarisa pakugadzirisa zviratidzo. Chikwata chekurapa chinorapa mwana wenyu chinogona kuita zvinhu zvakaita se:

• Kunyora mishonga yekuderedza pfari.
• Kudya kwemukati zvinoreva kupa mwana chikafu kuburikidza nechubhu kuti awane zvinovaka muviri zviri nani.
• Kukurudzira kurapwa kwemuviri kana kurapwa kwebasa .
• Kunyora mishonga yekurwadziwa .

Remangwana revanhu vane chirwere cheMenkes rakaita sei?

Kana kurapwa kusati kwatanga nekukurumidza, vana vane chirwere cheMenkes vanowanzo rarama makore asingasviki matatu .

Kunyangwe kana kurapwa kuchinge kwaitika, zviratidzo zveMenkes Disease zvinogona kuwedzera nekufamba kwenguva. Kunyange vakomana vane chirwere ichi vanorapwa vanogona kurarama kwemakore gumi kana pasi.

Chirwere cheMenkes chinogona kudzivirirwa here?

Zvinosuwisa kuti chirwere cheMenkes hachigone kudzivirirwa . Kana uine nhengo yemhuri kana mwana ane chirwere ichi, zvakakosha kutaura nachiremba uye kuwana mazano ezvemajini .

Usati wabata pamuviri, unogona kuongororwa majini (Genetic testing / DNA test) kuti uone kana uine jini rinokonzera Menkes Disease. Ruzivo urwu runogona kukubatsira pakuronga mhuri.

Unofanira kuona chiremba rini nezveMenkes Disease?

Kana uchifunga kuti mwana wako ane zviratidzo zveMenkes Disease, enda kuna chiremba nekukasika . Kuonekwa nekukurumidza kunogona kuvandudza hupenyu hwevana vane chirwere ichi.

Nekuti chirwere cheMenkes chinogara nhaka kuburikidza neX-chromosome, vakadzi vanogona kuongororwa DNA kuti vaone kana vaine jini rinokonzera chirwere ichi. Zvakanaka kutaura nachiremba wako nezvemajini ekurapa usati wava nevana.

Kana mwana wako aine chirwere cheMenkes, taura nachiremba wako nezvenzira dzakanakisisa dzekugadzirisa zviratidzo uye kuvandudza hupenyu hwako. Kunyange zvazvo pasina mushonga weMenkes Disease, vanachiremba vari kushanda nesimba kuti vawane nzira itsva dzekuongorora nekurapa chirwere chacho. Uyewo, kubatana nemapoka ekutsigira vabereki vane vana vane chirwere cheMenkes inzira yakanaka yekugovana zvakaitika uye kuwana nyaradzo.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakanaka, ngatipfupisei zvimwe zvezvinhu zvaunofanira kurangarira kubva pane zvatataura nezvazvo:

• Chirwere cheMenkes chirwere chemajini chinoita kuti muviri usashandise mhangura nemazvo.
• Izvi zvinowanzoitika muvakomana .
• Kana bvudzi remwana wako richikombama nenzira isingawanzoitiki, rava neruvara rwakajeka, risina kusimba, kana kuti rava kunonoka kukura, tsvaga rubatsiro rwechiremba nekukasika.
• Zvakakosha zvikuru kuongorora chirwere ichi uye kutanga kurapwa nekukurumidza . Zviri nani kana kurapwa kwatanga mukati memavhiki mana ekutanga ekuzvarwa.
• Kunyange hazvo pasina mushonga wakakwana, kune mishonga yekudzora zviratidzo uye kuwedzera hupenyu hwechirwere .
• Kana uine nhoroondo yemhuri yezvirwere izvi, kuchenjera kutsvaga mazano ezvemajini .

Ndinovimba ruzivo urwu ruchakubatsira. Kana usina chokwadi, hazvisati zvanyanya kunonoka kutaura nachiremba.

` Chirwere cheMenkes, Mhangura, Zvirwere zvemajini, Zvirwere zvevana, Sisitimu yetsinga, Vhudzi rakakombama, ATP7A