Kukanganiswa kweMCAD chii? Zviratidzo, Zvinokonzera, & Kurapwa

Kukanganiswa kweMCAD chirwere chisingawanzoitika chemajini umo muviri wako usingakwanisi kuputsa mafuta akati kuti kuti ave simba. Izvi zvinoitika nekuti uri kushaya kana kuti une huwandu hushoma hwe enzyme inonzi medium-chain acyl-CoA dehydrogenase, iyo inobatsira kuchinja mafuta kuti ave mafuta anogona kushandiswa nemaseli emuviri wako.

Funga nezvazvo sekunge uri kushaya danho rinokosha muitiro wekuita simba mumuviri wako. Kana usati wadya kwenguva yakareba kana kuti uri kurwara, muviri wako kazhinji unochinja kuzopisira mafuta akachengetwa kuti ave simba. Nekukanganiswa kweMCAD, sisitimu iyi yekuchengetedza haishande zvakanaka, izvo zvinogona kukonzera matambudziko akakomba kana zvisina kutarisirwa zvakanaka.

Zviratidzo zveMCAD deficiency ndeapi?

Zviratidzo zveMCAD deficiency kazhinji zvinoonekwa kana muviri wako uchida kushandisa mafuta kuti ave simba, kunyanya panguva dzisina chikafu kana kuti panguva yerufu. Zviratidzo zvizhinji zvinoonekwa muvana vaduku nevana vaduku, kunyange zvazvo zvingaoneka gare gare muhupenyu.

Heano zviratidzo zvikuru zvaunogona kuona:

• Kurara kwakanyanya kana kuoma kumuka
• Kurutsa kunoramba kuchitika
• Kushayikwa kwesimba kana kuita seune simba shoma
• Kushatirwa kana kuchinja mumafambisirwo emwoyo
• Matambudziko ekufemba kana kufema nekukurumidza
• Kuita zvikwambo mumamiriro ezvinhu akakomba
• Kurasikirwa nepfungwa kana kuita coma

Zviratidzo izvi kazhinji zvinoitika kana mwana asina kudya kwemaawa akawanda, ari kurwisa chirwere, kana kuti ari kurutsa uye asingakwanisi kuchengeta chikafu.

Mumazuva mashoma, chiratidzo chekutanga chingave sudden infant death syndrome (SIDS), ndosaka kuongororwa kwevana vachangoberekwa kwechirwere ichi kuchikosha kwazvo. Zvisinei, nekutarisirwa kwakakodzera, vana vane MCAD deficiency vanogona kurarama hupenyu hwakajairika, hune hutano.

Chii chinokonzera MCAD deficiency?

Kukanganiswa kweMCAD kunokonzerwa nekuchinja kweACADM gene, iyo inopa mirairo yekugadzira MCAD enzyme. Iwe unowana chirwere ichi kubva kuvabereki vako kuburikidza nemajini ako, zvakafanana nekuti unowana ruvara rwemaziso kana kuti kureba.

Kuti munhu ave neMCAD deficiency, anofanira kuwana ma kopi maviri egene rachinja - imwe kubva kumubereki mumwe nemumwe. Izvi zvinonzi autosomal recessive inheritance. Kana ukawana kopi imwe chete yekuchinjana, uri mutariri uye kazhinji hauzove nezviratidzo zvipi zvapi.

Kana vabereki vese vari vatariri, pane mukana we25% wekutumbuka kwese kuti mwana wavo achava neMCAD deficiency. Pane mukana we50% kuti mwana achava mutariri sevabereki, uye mukana we25% kuti havazotauri kopi dzakachinjwa zvachose.

Kuchinja kwemajini kunowanzoitika kunokonzera MCAD deficiency kunowanikwa mu1 yega yega 15,000 kusvika ku20,000 kuberekwa muvanhu vekuNorthern Europe. Mamwe marudzi ane mitengo yakasiyana, uye chirwere ichi chinogona kukanganisa vanhu vemarudzi ese.

Rini unofanira kuona chiremba nekuda kweMCAD deficiency?

Kana mwana wako akaongororwa ane MCAD deficiency kuburikidza nekuongororwa kwevana vachangoberekwa, unofanira kushanda nechikwereti che metabolic kunyange usati waona zviratidzo. Kurapwa kwakakurumidza ndiko kiyi yekudzivirira matambudziko akakomba.

Unofanira kutsvaga kurapwa kwekukurumidza kwemishonga kana mwana wako akaita chero chimwe chezviratidzo izvi zvekutyisidzira:

• Kurara kwakanyanya kunonetsa kumumutsa
• Kurutsa kunoramba kwenguva yakareba kupfuura maawa mashoma
• Kuramba kudya kana kunwa kwemaawa akawanda
• Matambudziko ekufemba kana kushanda nesimba kuti ufembe
• Chero kuita zvikwambo
• Kurasikirwa nepfungwa kana kusapindura

Usamirira kuona kana zviratidzo zvichavandudza pachazvo. Kukanganiswa kweMCAD kunogona kukonzera metabolic crisis inoda kurapwa nekukurumidza neIV fluids ine glucose. Nguva inokosha chaizvo mumamiriro ezvinhu aya.

Unofanirawo kubata timu yako yekurapa chero nguva mwana wako ari kurwara, kunyange nechinhu chakajairika sechando kana kuti chirwere chemudumbu. Kurwara kunowedzera njodzi yematambudziko, uye chiremba wako angada kutarisa mwana wako zvakanyanya kana kuchinja maitiro avo ekudya.

Zvinhu zvinowedzera njodzi yeMCAD deficiency ndeapi?

Chinhu chikuru chinowedzera njodzi yeMCAD deficiency ndechekuva nevabereki vanotakura kuchinja kwemajini kunokonzera chirwere ichi. Sezvo iri chirwere chinogara chichigara, nhoroondo yemhuri ndicho chinhu chakakosha kufunga nezvacho.

Zvimwe zviitiko zvinogona kutanga zviratidzo mumunhu ane MCAD deficiency kare:

• Kusadya kwenguva yakareba (fasting)
• Kuva nechirwere chipi zvacho, kunyanya nefebri kana kurutsa
• Kuwedzera kumanikidzwa kwemuviri kana kushanda nesimba
• Kuonekwa nekupisa kwakanyanya
• Kutora mishonga inokanganisa metabolism

Vana vaduku nevana vaduku vari panjodzi yakakwira yematambudziko nekuti vane simba shoma uye vangasakwanisa kutaura kana vari kunzwa kusagadzikana. Metabolism yavo inokurumidza zvinoreva kuti vanogona kukura matambudziko nekukurumidza kupfuura vana vakuru kana vakuru.

Chirwere ichi chinokanganisa vanhu vemarudzi ese, kunyange zvazvo chiri chakajairika muvanhu vekuNorthern Europe, kunyanya Scandinavian, ancestry. Zvisinei, kuchinja kwemajini kunokonzera MCAD deficiency kwawanikwa muvanhu vanobva kumashure akasiyana-siyana pasi rose.

Matambudziko anogona kuitika ekukanganiswa kweMCAD ndeapi?

Kana kukanganiswa kweMCAD kusina kutarisirwa zvakanaka, kunogona kukonzera metabolic crisis, iyo iri emergency yakakomba yemishonga. Izvi zvinoitika kana muviri wako usingakwanisi kugadzira simba rakakwana uye zvinhu zvinokuvadza zvinoungana muropa rako.

Matambudziko akakomba anogona kusanganisira:

• Shuga yakaderera kwazvo yeropa (hypoglycemia)
• Kuunganidzwa kwezvinhu zvinokuvadza muropa
• Kuwedzera kwemwoyo kana kukuvara kubva kune zvinhu zvinokuvadza
• Matambudziko echiropa kana kuwedzera
• Matambudziko emwoyo
• Coma kana kurasikirwa nepfungwa
• Mumazuva mashoma, rufu kana zvisina kurapwa nekukurumidza

Mashoko akanaka ndeakuti matambudziko aya akakomba anogona kudzivirirwa nekutarisirwa kwakakodzera. Vana vazhinji vane MCAD deficiency vanotevera chirongwa chavo chekurapwa uye vanodzivirira fasting kwenguva yakareba vanoita zvakanaka uye vane kukura kwakajairika.

Vamwe vanhu vangave nemigumisiro yakapfava inoramba ichitika senge kunzwa kuneta nyore kana kusava nekutsungirira kukwana pakusiya kudya. Zvisinei, nekutarisirwa kwakakodzera uye kuchinja mararamiro, vanhu vazhinji vane MCAD deficiency vanogona kuita zviitiko zvese zvakajairika kusanganisira mitambo nemamwe mabasa emuviri.

Kukanganiswa kweMCAD kunogona kudzivirirwa sei?

Sezvo kukanganiswa kweMCAD kuri chirwere chemajini chaunoberekwa nacho, chirwere pachacho hachigone kudzivirirwa. Zvisinei, matambudziko akakomba anogona kudzivirirwa nekutarisirwa kwakakodzera nekutarisirwa.

Nzira dzakanakisa dzekudzivirira dzinoenderana nekuzvidzivirira kubva kune zvinhu zvinogona kukonzera metabolic crises. Izvi zvinoreva kuchengeta maitiro ekudya akajairika uye kusamborega nguva refu pasina chikafu, kunyanya panguva yerufu kana kuti kushushikana.

Kune mhuri dzinenge dzichida kuva nevana, genetic counseling inogona kukubatsira kunzwisisa njodzi dzako kana uri mutariri wekuchinja kwemajini kunokonzera MCAD deficiency. Kuongororwa kwevana vachiri mudumbu kuripo kana vabereki vese vachizivikanwa sevatariri.

Zvirongwa zvekuongororwa kwevana vachangoberekwa munyika dzakawanda zvinoongorora kukanganiswa kweMCAD, izvo zvinoita kuti kuzivikanwa nekurapwa pakutanga kusati kwaonekwa zviratidzo. Kuonekwa kwakakurumidza kwakavandudza zvikuru migumisiro ye vana vane chirwere ichi.

Kukanganiswa kweMCAD kunoziviswa sei?

Kazhinji kazhinji kukanganiswa kweMCAD kunoziviswa kuburikidza nekuongororwa kwevana vachangoberekwa, iyo inongorora sampuli duku yeropa inotorwa kubva pahuro remwana wako mukati memazuva mashomanana ekutanga ehupenyu. Kuongororwa uku kunogona kuona chirwere ichi usati waona chero zviratidzo.

Kana kuongororwa kwevana vachangoberekwa kuchiratidza kukanganiswa kweMCAD, chiremba wako achaodha bvunzo dzimwe kuti aone kuti chirwere chacho chiripo here. Izvi kazhinji zvinosanganisira kuyeresa zvinhu zvakati kuti muropa nemukati memwana wako zvinoungana kana MCAD enzyme isingashande zvakanaka.

Genetic testing inogonawo kusimbisa chirwere nekuona kuchinja kweACADM gene. Bvunzo iyi inogona kuona kuchinja kwemajini kunokonzera chirwere uye inogona kubatsira pakuronga mhuri kana kusimbisa chirwere mumamiriro ezvinhu asingazivikanwi.

Mumazuva mashoma, vanachiremba vangangodzidza kukanganiswa kweMCAD gare gare muhudiki kana mwana akaita zviratidzo panguva yerufu kana kuti asina kudya kwenguva yakareba. Bvunzo dzekuongorora dziri dzimwe chete, asi kuva nezviratidzo kunoita kuti kuongororwa kuve nekukurumidza.

Kurapwa kweMCAD deficiency chii?

Kurapwa kukuru kweMCAD deficiency kunotarisa pakudzivirira muviri wako kuti usade kuputsa mafuta kuti ave simba. Izvi zvinowanikwa kunyanya kuburikidza nekutarisira kudya uye kudzivirira nguva refu pasina chikafu.

Chirongwa chako chekurapwa chichazowanzo sanganisira:

• Kudya kwakawanda, kazhinji kazhinji kudya uye zvokudya zviduku kuchengetedza shuga yeropa
• Kudzivirira fasting kwemaawa anopfuura 8-12 (mashoma evana vaduku)
• Kudya kwakaderera mafuta uye kwakakwirira mucarbohydrates
• Mafomula chaiwo emishonga kana zvinowedzerwa kana zvakakurudzirwa
• Zvirongwa zvekuita zvinhu zvekukurumidza panguva yerufu

Panguva yerufu kana nguva dzisingakwanisi kudya zvakanaka, kurapwa kunova kwakanyanya. Chiremba wako angakurudzira kupa zvinwiwa zvine glucose kana kuti, mumamiriro ezvinhu akakomba, kuenda kuchipatara kuti upe IV fluids ine glucose.

Vanhu vazhinji vane MCAD deficiency vanoshanda nechikwata chinosanganisira metabolic specialist, dietitian anoziva nezvechirwere ichi, uye pediatrician wavo wenguva dzose. Nzira iyi yekubatana inobatsira kuve nechokwadi chekuti zvese zvekutarisira zvakarongeka uye kuti une rutsigiro kana mibvunzo ikamuka.

Nekurapwa kwakakodzera, vana vane MCAD deficiency kazhinji vanokura uye vanokura zvakanaka uye vanogona kuita zviitiko zvese zvevana. Kiyi ndeyekuramba uine maitiro ekudya uye kugadzirira nguva yerufu kana kushushikana.

Maitiro ekutarisira MCAD deficiency pamba?

Kutarisira MCAD deficiency pamba kunotarisa pakuchengetedza maitiro ekudya akajairika uye kugadzirira mamiriro anogona kutanga zviratidzo. Chinangwa ndechekuchengetedza shuga yeropa remwana wako yakagadzikana uye kudzivirira kudiwa kwemuviri wavo kuputsa mafuta kuti ave simba.

Maitiro ako ezuva nezuva anofanira kusanganisira kupa kudya nezvokudya zviduku maawa ese 3-4 zuva rose, uye kusamborega mwana wako achienda kupfuura maawa 8-12 asina kudya (nguva pfupi yevana vaduku). Chengeta zvokudya zviri nyore kudya, zvine carbohydrate zvakagadzirira.

Kana mwana wako ari kurwara, zvinokosha chaizvo kutarisa kudya kwavo nekunwa kwavo. Papa zvishoma, zvinwiwa zvine glucose kana vasina kukwanisa kuchengeta chikafu chakaoma. Bata timu yako yekurapa pakutanga kwechirwere chero chipi zvacho kuti uwane mazano.

Chengeta zvinhu zvekukurumidza zvakagadzirira nguva dzose, kusanganisira glucose gels, sports drinks, kana mamwe masosi ekukurumidza eshuga. Ita shuwa kuti varapi, vadzidzisi, nehama vanoziva nezvechirwere ichi uye vanoziva zvekuita kana mwana wako akaita zvakaipa.

Funga nezvekutora medical alert bracelet yemwana wako inoratidza chirwere chavo. Izvi zvinogona kuva ruzivo rwakakosha kune vanopindura kune emergency kana mwana wako achida kurapwa kwekukurumidza.

Unofanira kugadzirira sei kuenda kuchiremba?

Usati waenda kuchiremba, nyora chero zviratidzo kana zvinokunetsa zvawaona, kunyange zvingaita zviduku. Sanganisira ruzivo rwekuti zviratidzo zvakazoitika riini uye mwana wako aiitei kana kuti aidya chii panguva iyoyo.

Uya nebhuku rekuverenga rekudya rinoratidza maitiro ekudya emwana wako kwevhiki yapfuura. Izvi zvinobatsira chiremba wako kunzwisisa kuti chirongwa chekurapwa chazvino chinoshanda zvakanaka here uye kana kuchinja kupi kudiwa.

Gadzira rondedzero yemibvunzo yaunoda kubvunza. Izvi zvingasanganisira zvinokunetsa nezvekukura uye kukura, mibvunzo yekutarisira chirwere panguva yekufamba, kana kuti kufunga nezvemabasa emwana wako anogona kuita zvakanaka.

Kana mwana wako ari kurwara munguva pfupi yapfuura kana kuti ane chero zviitiko zvinokunetsa, nyora zvakadzama zvinosanganisira zvakazoitika, kwenguva yakareba yakatora, uye zvawakaita kubatsira. Ruzivo urwu runobatsira chiremba wako kuona kuti chirongwa chako chekukurumidza chinoshanda zvakanaka here.

Ita shuwa kuti uunze mishonga yese yazvino nezvinowedzerwa zvinotorwa nemwana wako, pamwe chete nemigumisiro ye bvunzo dzapfuura kana marekodhi kubva kune vamwe vanachiremba. Kuva neruzivo rwakakwana kunobatsira chiremba wako kupa kurapwa kwakanakisa.

Chii chinonyanya kukosha nezveMCAD deficiency?

Kukanganiswa kweMCAD kuri chirwere chemajini chinogona kutarisirwa chinokanganisa maitiro emuviri wako ekushandisa mafuta kuti ave simba. Kunyange zvazvo zvinoda kutarisirwa nekutarisirwa nguva dzose, vana vazhinji vane chirwere ichi vanogona kurarama hupenyu hwakajairika, hune hutano nekutarisirwa kwakakodzera.

Chinhu chakakosha kukurangarira ndechekuti kudzivirira matambudziko kunobudirira kwazvo. Nekuchengetedza maitiro ekudya akajairika, kudzivirira fasting kwenguva yakareba, uye kuva nechirongwa chakanaka chekutarisira chirwere, matambudziko akakomba anogona kudzivirirwa nguva dzose.

Kuongororwa kwakakurumidza kuburikidza nekuongororwa kwevana vachangoberekwa kwakavandudza zvikuru migumisiro ye vana vane MCAD deficiency. Kana mwana wako akaongororwa, kushanda nechikwata chako chekurapa uye kutevera chirongwa chekurapwa kunoita kuti mwana wako ave nemukana wakanaka wekukura kwakajairika, kukura, uye kuita zviitiko zvese zvevana.

Rangarira kuti kuva neMCAD deficiency hakusi kusimbisa ramangwana remwana wako. Neruzivo, kugadzirira, nekurapwa kwakanaka kwemishonga, vana vane chirwere ichi kazhinji vanoita zvakanaka sevavakidzani vavo kuchikoro, mitambo, nezvimwe zvese zveupenyu.

Mibvunzo inowanzo bvunzwa nezveMCAD deficiency

Vana vane MCAD deficiency vanogona kutamba mitambo uye kuva vane simba here?

Hongu, vana vane MCAD deficiency vanogona kuita mitambo nemabasa emuviri senge vamwe vana. Kiyi ndeyekuve nechokwadi chekuti vanodya zvakanaka usati watanga uye panguva yebasa rarefu uye vanoramba vakanyorova. Ungada kupa zvokudya zvakawanda panguva yekurovedza kwenguva refu kana makwikwi, uye vadzidzisi vanofanira kuziva nezvechirwere chemwanakomana wako nechirongwa chekukurumidza.

Mwana wangu achakura here MCAD deficiency?

Kwete, MCAD deficiency chirwere chemajini chehupenyu hwose chisingaperi. Zvisinei, sezvo vana vakura, vanowanzova nani pakutarisira chirwere chavo uye vangave nemashoma ezviitiko zvinokunetsa. Vakuru vane MCAD deficiency kazhinji vanoda kutarisirwa kushoma kupfuura vana vaduku, asi vanofanira kudzivirira fasting kwenguva yakareba uye kuchengetedza tsika dzakanaka dzekudya.

Ndinofanira kuitei kana mwana wangu akarutsa uye asingakwanisi kuchengeta chikafu?

Kana mwana wako akarutsa uye asingakwanisi kuchengeta chikafu, iyi ndiyo mamiriro ezvinhu anogona kuva akakomba anoda kutarisirwa nekukurumidza. Edza kupa zvishoma, zvinwiwa zvine glucose senge sports drinks kana kuti zvinwiwa zvakajeka. Bata timu yako yekurapa nekukurumidza kuti uwane mazano, uye usamborega kuenda kuchipatara kana mwana wako akaita hope, akaramba achirutsa, kana kuti akaita zvimwe zviratidzo zvinokunetsa.

Kukanganiswa kweMCAD kuchakanganisa sei kukura kwemwana wangu nekukura?

Nekutarisirwa kwakakodzera, MCAD deficiency kazhinji haikanganisi kukura kwakajairika nekukura. Vana vanotevera chirongwa chavo chekurapwa uye vanodzivirira metabolic crises kazhinji vanosvika kune zvese zvikamu zvavo zvekuvandudza panguva yakatarwa uye vanokura pamwero wakajairika. Kuongororwa nguva dzose nechikwata chako chekurapa kucharamba kuchitarisa kufambira mberi kwemwana wako uye kuve nechokwadi chekuti zvese zviri munzira.

Vabereki vese vanogona kuongororwa kuti vaone kana vari vatariri here?

Hongu, genetic testing iripo kuti ione kana vabereki vari vatariri vekuchinja kwemajini kunokonzera MCAD deficiency. Kuongororwa uku kunokurudzirwa zvikuru kana uine nhoroondo yemhuri yechirwere ichi kana kuti uri kuronga kuva nevana uye uchida kunzwisisa njodzi dzako. Genetic counselor inogona kukubatsira kunzwisisa maitiro ekuongorora uye kuti migumisiro inorevei kumhuri yako.