Unoziva here nezvechirwere chisingawanzoitiki chinonzi Homocystinuria (HCU)? Ngatikurukurei nezvazvo!

Nhasi tichataura nezvechirwere chatisati tambonzwa nezvacho, asi zvakakosha kuti munhu wese azive nezvacho. Izvi zvinonzi Homocystinuria, kana kuti `(HCU)` muchidimbu. Dzimwe nguva, kana mamwe maitiro emakemikari anoitika mumuviri wedu asingafambe zvakanaka, matambudziko asingatarisirwi anogona kumuka. Ichi chimwe chezvirwere zvakadaro chinonzi `(HCU)`. Musatya, ngatitaurei nezvazvo zviri nyore.

Chii chinonzi Homocystinuria (HCU)?

Zvichitaurwa zviri nyore, `(HCU)` chirwere chisingawanzoitika mumajini . Chinoitika apa ndechekuti muviri wedu haugone kudzora amino acid `(Homocysteine)` nemazvo, ndiko kuti, haugone kuishandisa nekuibvisa. Fungidzira, chii chinoitika kana zvinhu zvisina basa zvikaungana mumuviri wedu? Saizvozvowo, `(Homocysteine)` iyi ikaungana zvisina kufanira muropa nemuweti. Kuungana uku kunogona kukonzera matambudziko makuru mumaziso, muhurongwa hwemapfupa (mapfupa edu), muhurongwa hwetsinga dzeropa (uropi nemuzongoza), uye mutsinga dzeropa (tsinga dzeropa). Zvino une mubvunzo , chii chinonzi amino acids idzi? Amino acids ndiwo maburi ekutanga emapuroteni. Kungofanana nezvidhinha zvinodiwa kuvaka chivako, amino acids anodiwa kuvaka mapuroteni mumuviri wedu. Muviri wedu unoita chikamu che`(Homocysteine)` iyi kubva kune imwe amino acid inonzi `(Methionine)`. Zvakare, kubva muzvikafu zvine mapuroteni akawanda zvatinodya, semuenzaniso, nyama, hove, nemazai, tinowana `(Methionine)` yakawanda. Kazhinji, muviri wedu unoputsa `(Methionine)` iyi woishandura kuita `(Homocysteine)`. Zvisinei, mumuviri wemunhu ane `(Homocystinuria), enzyme inodiwa kudzora `(Homocysteine)` nemazvo, kureva kuti, kuti irambe iri padanho rinodiwa uye ichinje zvimwe, inenge isipo, kana kuti haishande nemazvo. Enzyme rudzi rweprotein inokurumidza kuita makemikari mumuviri wedu. Saka kana enzyme iyi isipo, huwandu hwe`(Homocysteine)` hunowedzera.

Ndeapi marudzi makuru e homocystinuria?

Vaongorori vakapatsanura homocystinuria mumhando dzakasiyana-siyana zvichienderana nezvikonzero zvemajini. Kune mhando mbiri huru:

1. Kushaikwa kweCystathionine beta-synthase (CBS) (Classical Homocystinuria)

Iyi ndiyo mhando inonyanya kuzivikanwa ye homocystinuria. Cystathionine beta-synthase (CBS) ienzyme inobatsira kushandura homocysteine ​​\u003d kuita imwe amino acid, cysteine. Rudzi urwu rwechirwere runoitika kana gene reCBS risingabudise enzyme yeCBS yakawanda kana kuti isina, kana kana enzyme yeCBS isingashande nemazvo. Iyo enzyme yeCBS inoda vhitamini B6, inozivikanwawo sepyridoxine, kuti ishande nemazvo. Rudzi urwu runopatsanurwa zvakanyanya zvichienderana nekuti unopindura sei kune supplements dzevhitamini B6.

2. Kukanganisika kwekushandiswa kweCobalamin (cbl) mumuviri

Muviri wedu unofanirwa kushandura imwe homocysteine ​​\u003d kuita methionine. Maitiro aya anosanganisira vhitamini B12, inozivikanwawo secobalamin. Muviri wedu unopfuura nematanho akati wandei kuti ushandure homocysteine ​​\u003d kuita methionine. Homocystinuria, iyo inokonzerwa nekushaikwa kwecobalamin, inoitika kana muviri usingakwanise kupedzisa danho iri, usingagadzire enzyme chaiyo, kana kugadzira ma enzyme asina kunaka.

Ndeupi musiyano uripo pakati pe homocystinuria ne Marfan syndrome?

Marfan syndrome chirwere chisingawanzoitiki chinokanganisa nhengo dzemuviri wese. Zviratidzo zvakawanda zvechirwere ichi zvakafanana nehomocystinuria. Semuenzaniso, makumbo marefu, minwe mirefu, yakatetepa, ectopia lentis, uye myopia. Zvisinei, Marfan syndrome inokonzerwa nekuchinja kwejini reFibrillin-1 (FBN1). Vanhu vane Marfan syndrome vane huwandu hwakajairwa hwehomocysteine ​​​​nemethionine.

Ndiani anonyanya kubatwa nechirwere ichi? Chinowanzoitika sei?

Homocystinuria inokonzerwa nekuchinja kwemajini. Saka chero ani zvake anogona kuiwana. Zvisinei, zvimwe zvidzidzo zvakaratidza kuti chirwere ichi chinokanganisa vanhu mune dzimwe nyika kupfuura dzimwe. Nyika idzi ndeidzi:

• Ayarendi
• Noweyi
• Jerimani
• Kwata

Homocystinuria chirwere chisingawanzoitiki chine majini . Chirwere ichi chinowanzoonekwa nevanhu vari pakati pe200,000 ne335,000 pasi rose. Izvozvo hazviwanzoitiki.

Ndezvipi zviratidzo zve homocystinuria?

Zviratidzo zve `(Homocystinuria)` zvinosiyana zvichienderana nerudzi rwechirwere chaunacho. Zvinowanzotanga kuoneka mumakore mashoma ekutanga ehupenyu. Zvisinei, vamwe vanhu vanogona kusava nezviratidzo kusvika vakura. Rudzi rwakajairika rwe `(Homocystinuria)` runowanzo kanganisa masystem aya:

• Maziso
• Sisitimu yemafupa
• Sisitimu yetsinga yepakati
• Sisitimu yetsinga dzeropa

Zviratidzo zve `(Homocystinuria)` zvinogona kusanganisira:

Zviratidzo zvinokanganisa maziso:

• Lenzi yeziso inobuda panzvimbo yayo yakajairika (ectopia lentis). Izvi zvinogona kukonzera kutadza kuona zvakanaka .
• Kusaona zvakanaka (myopia), zvinoreva kusakwanisa kuona kure.

Zviratidzo zvinokanganisa skeletal system:

• Kuratidza kukura kwakanyanya .
• Kureba kwemaoko, makumbo, neminwe zvisina kujairika.
• Mabvi anokotama mukati uye mabvi anogovana pamwe chete kana makumbo akatwasuka (izvi zvinonziwo "mabvi anogogodza").
• Chipfuva chacho chakanyura mukati kana kuti chakabuda mberi.
• Kukombama kwemusana (scoliosis).
• Vanhu vane homocystinuria vari panjodzi yekubatwa ne osteoporosis .

Zviratidzo zvinokanganisa tsinga huru:

• Kunonoka kukura . Izvi zvinoreva kusaratidza kukura kwepfungwa kana kwemuviri kwakakodzera zera.
• Matambudziko ekudzidza.

Zviratidzo zvinokanganisa hurongwa hwemwoyo:

• Kuwanda kwenjodzi yekugwamba kweropa. Kugwamba kweropa uku kunogona kukonzera zvirwere zvine njodzi zvakaita sestroke kana pulmonary embolism.

Ndezvipi zvikonzero zve homocystinuria?

Mhando dzakawanda dzehomocystinuria dzinokonzerwa nekuchinja kwemajini, kana kuti kuchinja kwemajini, mumajini akasiyana-siyana.

Zvikonzero zvemajini

Rudzi rwakajairika rwe`(Homocystinuria)` runokonzerwa nekuchinja kwejini re`(CBS)`. Iri jini re`(CBS)` rinoudza muviri wedu maitiro ekugadzira enzyme inonzi `(Cystathionine beta-synthase)`. Iyi enzyme ndiyo inotungamira nzira yemakemikari inoshandura `(Homocysteine)` acid kuita `(Methionine)`. `(Homocystinuria)` inogonawo kukonzerwa nekuchinja kwemajini `(MTHFR)`, `(MTR)`, `(MTRR)` uye `(MMADHC)`. Majini ese aya ane basa rekushandura `(Homocysteine)` acid kuita `(Methionine). Kana chero majini aya aine kuchinja, enzyme yakakodzera haishande nemazvo. Ipapo `(Homocysteine)` inotanga kuungana mumuviri. Zvisinei, vaongorori vachiri kusaziva zvizere kuti nei huwandu hwakawanda hwehomocysteine ​​​​huchikonzera zviratidzo zvehomocystinuria. Unogara nhaka homocystinuria mu autosomal recessive pattern. Izvi zvinoreva kuti uchangogara nhaka chirwere ichi kana vabereki vako vese, avo vasingawanzo ratidza zviratidzo, vakakupa majini ane chirwere ichi.

Homocystinuria inogona kukonzerwa nekushaikwa kwemavhitamini here?

Ehe, homocystinuria inogonawo kuitika nekuda kwezvikonzero zvisiri zvemajini. Dambudziko iri rinogonawo kukonzerwa nekushaikwa kwakanyanya kwevhitamini B6, vhitamini B9 (folate), kana vhitamini B12 (cobalamin).

Homocystinuria inoonekwa sei?

Munyika dzakadai seUnited States, bvunzo dzekuongorora vacheche dzinoshandiswa kuongorora mamiriro akasiyana-siyana emuviri, kusanganisira homocystinuria. Kuongororwa kwehomocysteine ​​​​kunoyera huwandu hwehomocysteine ​​​​nemethionine muropa remwana wako. Kana mhinduro dzebvunzo dziine chokwadi, zvichiratidza kuti chirwere chacho chingave chiripo, chiremba wemwana wako anoraira mimwe miedzo yekusimbisa mhedzisiro. Zvisinei, bvunzo idzi dzevacheche hadzisi nguva dzose dzakarurama 100%. Dzimwe nguva dzinogona kusakwanisa kuona mamwe mamiriro ezvinhu. Nokudaro, vamwe vanhu vanoonekwa vaine homocystinuria mushure mekunge zviratidzo zvaonekwa. Kunyangwe zviratidzo zvakawanda zvichionekwa muhucheche kana muhudiki, dzimwe nguva zvinogona kuonekwa muhukuru. Kana uine zviratidzo zve `(Homocystinuria)`, chiremba wako anoraira `(Homocysteiniria ​​test)` kusimbisa chirwere chacho. Kana mhinduro dzichiratidza kuti une `(classical homocystinuria)` (ndiko kuti, `(CBS)` kushomeka), chiremba wako anoraira imwe bvunzo kuti aone kuti une rudzii rwechirwere. Izvi zvinonzi `(vitamin B6 challenge)` . Kuongororwa uku kunoona kuti unopindura sei kune supplements dzevhitamini B6. Chiremba wako anogona kugadzira hurongwa hwakakodzera hwekurapa kwako. `(Classical homocystinuria)` inogona kurongwa seizvi:

• Inoshanda neVitamin B6: Muviri wako unogadzira enzyme yakakwana ``(CBS)'', saka vitamin B6 inogona kubatsira enzyme iyoyo kushanda nemazvo.
• Inoshanda zvishoma muvhitamini B6: Muviri wako unogadzira imwe enzyme inonzi ``(CBS)'', saka vhitamini B6 inogona kubatsira zvishoma.
• Vhitamini B6-isina mhinduro: Muviri wako haugadziri enzyme yakakwana ``(CBS)'', saka vhitamini B6 haingangobatsiri enzyme.

Kuongororwa kwemajini kunogona kuona shanduko mumajini anokonzera homocystinuria. Zvisinei, vanachiremba havawanzoshandisa izvi nekuti bvunzo yehomocysteine ​​​​yega ndiyo inogona kuona chirwere chacho.

Ndeipi mishonga yekurapa homocystinuria?

Kurapa homocystinuria kunosanganisira kudzora huwandu hwehomocysteine ​​​​muropa rako uye kudzora zviratidzo zvako. Kurapa kunowanzo sanganisira kutora ma supplements evhitamini B6. Kana uine mhando inopindura kuvhitamini B6 (classical homocystinuria), ma supplements evhitamini B6 anogona kukwana kuderedza uye kudzora huwandu hwehomocysteine ​​​​yako. Zvisinei, kana uine mhando isingapindure kana isingapindure zvishoma kuvhitamini B6 (classical homocystinuria), ma supplements evhitamini B6 chete angasakwani. Ungangoda dzimwe nzira dzekurapa. Izvi zvinogona kusanganisira:

• Mushonga we `(Betaine)` (Betaine) kana `(Cystadane): `(Betaine)` unobatsira kuderedza huwandu hwe `( Homocysteine )` muropa rako.
• Kudya kwakakosha kwe `(Homocystinuria)`: Uchafanirwa kutevedzera kudya kunorambidza kudya zvine mapuroteni ne `(Methionine)`.
• Zvimwe zvinowedzerwa: Kana uine imwe mhando ye homocystinuria, ungangodawo kutora folate ( vitamin B9 ) kana cobalamin ( vitamin B12 ).

Chinhu chinonyanya kukosha ndechekuti kurapwa uku kunofanira kuenderera mberi kwehupenyu hwese . Ndipo chete paunogona kudzora huwandu hwehomocysteine ​​​​yako, kuderedza matambudziko, uye kurarama hupenyu hune hutano.

Unogona kurarama kwenguva yakareba sei uine homocystinuria?

Kana zvikaonekwa nekukurumidza uye zvikarapwa zvakanaka muhupenyu hwese, vana vazhinji vane Homocystinuria vanogona kutarisira kurarama hupenyu hwakanaka uye hwakajairika . Saka, kuongororwa nekukurumidza uye kuramba uchirapwa kwakakosha zvikuru.

Homocystinuria inogona kudzivirirwa here?

Nekuti chirwere chemajini, homocystinuria haigone kudzivirirwa. Zvisinei, kana uine pamuviri kana kuronga kuva nemwana mune ramangwana, zvakakosha kutaura nenyanzvi yezvemajini. Kupa mazano ezvemajini kunogona kukubatsira kunzwisisa njodzi yako yekuva nemwana ane homocystinuria. Zvakajairika kunzwa wakaremerwa paunoona kuti iwe kana mwana wako ane chirwere chemajini. Tora nguva yekudzidza zvese zvaunogona nezve homocystinuria. Wobva watsvaga chiremba anonyatsonzwisisa chirwere chako. Kushanda nenyanzvi yezvekudya kunogona kukupa simba rekutonga. Nekuzvipa simba neruzivo nezviwanikwa, unogona kuwana mhedzisiro yakanaka kwazvo.

Chekupedzisira, chinhu chinonyanya kukosha (Mharidzo Yekuenda Kumba)

Zvakanaka, saka ndinotarisira kuti ikozvino wava kunzwisisa zviri nani zvatanga tichitaura nezvazvo (Homocystinuria). Heano mamwe mashoko akakosha ekurangarira:

• Chii chinonzi `(Homocystinuria)`?Chirwere chisingawanzoitiki, asi chinogona kunge chakakomba chemajini.
• Chinoitika apa ndechekuti muviri haugone kudzora kemikari inonzi ``Homocysteine'' zvakanaka, uye inoungana mumuviri.
• Izvi zvinogona kukonzera matambudziko mumaziso, mumafupa, mutsinga dzeropa, uye mutsinga dzeropa .
• Chinhu chakakosha kuziva chirwere ichi nekukurumidza uye kuwana kurapwa kwakakodzera muhupenyu hwako hwese . Kana ukadaro, unogona kurarama hupenyu hwakajairika.
• Vhitamini B6, kudya kwakakosha, uye mimwe mishonga ndiyo mishonga mikuru yekurapa izvi.
• Kana muine mimwe mibvunzo nezveizvi, kana kana paine mumwe munhu mumhuri yenyu ane zviratidzo izvi, iva nechokwadi chekutsvaga rubatsiro rwechiremba.

Usatya, nzira yakanakisisa yekugadzirisa chero dambudziko rehutano ndeyekuziva zvakawanda nezvaro. Homocystinuria, zvirwere zvemajini, homocysteine, amino acids, vhitamini B6, vhitamini B12, methionine