Phenylketonuria chirwere chinoratidzirwa neiyo isiri-assimilation (kana isiri-metabolism) ye phenylalanine.

Phenylalanine inokosha amino asidhi ine basa rakakosha muhurongwa hwekutya nekusimudzira iyo gland yegland. Iyi amino acid haina kugadzirwa nemuviri uye saka inofanira kupihwa by chikafu. Chokwadi, phenylalanine ndeimwe yezvinhu zvekudya zvese zvakapfuma mumapuroteni emhuka nemuriwo mavambo: nyama, hove, zai, soy, mukaka, chizi, nezvimwe.

Icho chirwere chisingawanzoitika uye chirwere chinobata vese vasikana nevakomana, pasina kunyanya kufungidzira.

Kana chirwere ichi chikaonekwa kusati kwanyanya kurapwa nekukurumidza, kuunganidzwa kwechinhu ichi kunogona kuitika mumuviri uye kunyanya muhurongwa hwetsinga. Zvakawandisa phenylalanine muhuropi huri kusimukira zvine chepfu.

Iyo yakawandisa phenylalanine iripo mumuviri inobviswa neiyo renal system uye nekudaro inowanikwa mumurini weti, muchimiro che phenylketones. (2)

MuFrance, phenylalanine yekuongorora bvunzo inoenderana pakuberekwa: Guthrie bvunzo.

Kuwanda (huwandu hwevanhu vane chirwere muhuwandu panguva yakapihwa), zvinoenderana nenyika iri kusangana uye inogona kusiyana pakati pe1 / 25 ne000 / 1.

MuFrance, kuwanda kwe phenylketonuria ndeye 1 / 17. (000)

Ichi chirwere chinorapwa nechikafu chakaderera mumapuroteni kudzikisa huwandu hwe phenylalanine mumuviri wemurwere uye kudzora kukuvara kwehuropi.

Kurapa kwekutanga kwechirwere kunowanzo dzivirira kukura kwezviratidzo.

Uye zvakare, kurapwa kwakanonoka kunotungamira mukuunganidzwa kwemamorekuru aya muuropi kune mhedzisiro: (3)

- kudzidza matambudziko;

- maitiro ekuzvibata;

- pfari chirwere;

- eczema.

Mafomu matatu echirwere akaratidzirwa mushure mekuongororwa kweropa pakuzvarwa: (2)

- chaiyo phenylketonuria: ine phenylalaninemia (mwero we phenylalanine muropa) inopfuura 20 mg / dl (kana 1 μmol / l);

- atypical phenylketonuria: ine nhanho iri pakati pe10 kusvika 20 mg / dl (kana 600-1 µmol / l);

- Permanent zvine mwero hyperphenylalaninemia (HMP) uko phenylalaninemia iri pasi pe10 mg / dl (kana 600 μmol / l). Ichi chimiro chechirwere hachisi chakakomba uye chinongoda kutariswa kuri nyore kuitira kudzivirira chero kuwedzeredza.

Kuongorora kwakarongeka pakuzvarwa kunoita kuti zvikwanisike, mune dzakawanda zviitiko, kudzikisira kutaridzika kwechiratidzo chechirwere.

Mushonga wechirwere ichi unobva pane chikafu chisina mapuroteni uye kuongorora phenylalaninemia inobatsirawo kudzivirira kuunganidzwa kwe phenylalanine mumuviri uye kunyanya muuropi. (2)

Muchiitiko chekuti kuongororwa kwechecheche kusati kwaitwa, zviratidzo zve phenylketonuria zvinoonekwa nekukurumidza mushure mekuzvarwa uye zvinogona kunge zvakatonyanya kuoma zvichienderana nemhando yechirwere.

Zviratidzo izvi zvinozivikanwa ne:

- kunonoka mukukura kwepfungwa kwemwana;

- kunonoka kukura;

- Microcephaly (saizi diki saizi);

- kugwinha nokudengenyeka;

- eczema;

- kurutsa;

- hunhu kusagadzikana (kusagadzikana);

- mota kusagadzikana.

Muchiitiko chehyperphenylalaninemia, shanduko mugene inonamira co-factor yekushandura phenylalanine kuva tyrosine (co-factor BHA) inogoneka. Kukanganiswa uku mukugadzirwa kwe tyrosine kunotungamira ku:

- ganda rakanaka;

- bvudzi rakanaka.

Phenylalanine chirwere chakagarwa nhaka. Izvo zvinoguma ne autosomal yakawandisa nhaka. Iyi nzira yekutapurirana ine chekuita nemota (isiri-yechiroma chromosome) uye kudzokorodza kunogumisira kudikanwa kwenyaya yekuti ive nemaviri emakopi eakachinjika allele kuitira kuti ikure iyo inorwara phenotype. (4)

Kwakatangira chirwere ndiko kushandurwa kwePAH gene (12q22-q24.2). Iri geni rinotora enzyme inobvumira hydrolysis (kuparadzwa kwechinhu nemvura): phenylalanine hydroxylase.

Iyo geni rakachinjika saka rinokonzeresa kudzikiswa kwezviitiko zve phenylalanine hydroxylase uye nekudaro phenylalanine kubva kuchikafu haigadziriswe nemuviri. Iwo mwero weiyi amino acid muropa rechinhu chakakanganisika saka inowedzerwa. Kutevera kuwedzera kweuwandu hwe phenylalanine mumuviri, kuchengetwa kwayo kunoitika mune dzakasiyana nhengo uye / kana matishu, kunyanya muuropi. (4)

Dzimwe shanduko dzakaratidzirwa muhukama nechirwere. Uku ndiko kugadziridzwa padanho remageneti anonamira BHA (co-factor yekushandurwa kwe phenylalanine kuita tyrosine) uye kunyanya kunetseka chimiro chehyperphenylalaninemia. (1)

Izvo zvinhu zvine njodzi zvinosanganisirwa nechirwere ndezvemajini. Muchokwadi, kutapudzwa kwechirwere ichi kunoitika kuburikidza neye autosomal recessive kuchinjisa. Either, kuti kuvapo kwemaviri alleles akachinjirwa kune geni kunofanirwa kuve kuri mumunhu kuti ave nechirwere.

Mupfungwa iyi, mubereki wega wega wemunhu anorwara anofanirwa kuve nekopi yeiyo yakachinjika geni. Nekuti iri fomu inodzokorodza, vabereki vane kopi imwe chete yeiyo yakachinjika geni havaratidze zviratidzo zvechirwere. Zvakangodaro, ivo vanodikanwa, inosvika makumi mashanu muzana yega yega, kune yega yega kuendesa yakachinjika geni kumwana. Kana baba namai vemwana vakatumira rimwe geni rakachinjika, nyaya yacho ichave iine maeleles maviri akachinjika uye vozogadzira iyo phenotype inorwara. (50)

Kuongororwa kwe phenylketonuria kunonyanya kuitwa kuburikidza nechirongwa chekuzvarwa kwekuzvarwa: kurongeka kwevana vachangozvarwa. Iyi ndiyo bvunzo yeGuthrie.

 Muedzo uyu unofungidzirwa kuva wakanaka kana huwandu hwe phenylalanine muropa hwakakura kupfuura 3 mg / dl (kana 180 µmol / l). Muchirevo chekuwedzeredza phenylalaninemia, yechipiri kuongororwa kweropa kunoitwa mune yakasarudzika nzvimbo kuratidza kana kwete kuvapo kwe phenylketonuria. Kana iyo nhanho ye phenylalanine ichiri yakakura kudarika 3 mg / dl panguva yechipiri chipimo uye hapana chimwe chirwere chingangove chakakonzereswa chakaonekwa, kuongororwa kwacho kunoitwa. (2)

Kuongororwa kwechirwere ichi kunofanirwa kusiyaniswa neicho kushomeka kweBH4. Chokwadi, iyo yekupedzisira inonyanya kuratidza hunhu hwe hyperphenylalaninemia uye inoda kungori nyore kuongorora. Nepo kucherechedzwa kwekuvapo kwe phenylketonuria mune izvo zvinoda kurapwa kwakakosha uye yakaderera mapuroteni chikafu. (1)

Mushonga wekutanga we phenylketonuria saka kudya kwakaderera mu phenylalanine, kureva kuderedzwa kwekudya kweprotein kudya. Ichi chakaderera mapuroteni chikafu chinofanirwa kuitiswa nekukurumidza kana achangoberekwa kuongororwa. Inofanira kuteverwa muhupenyu hwese uye inogona kuve yakanyanya kana kushomeka zvichienderana nenyaya yacho uye nemhando yechirwere. (2)

Pamusoro peichi chikafu chakapedzwa mu phenylalanine, sapropterin dihydrochloride inogona kupihwa kumurwere kuitira kuti kudya kwake kushome zvakanyanya, kana kunyangwe kuti chikafu chake chinoramba chakajairika. (2)

Uye zvakare, zvekuwedzera zvekudya zvakapfuma muamino acids (kusasanganisira phenylalanine), mavitamini uye mamineral anogona kukurudzirwa kuitira kudzoreredza kusaenzana mune izvi zvinwiwa nekuda kwechikafu ichi. (3)

Kushandiswa kweaspartame (yakagadzirwa sweetener inoshandiswa muzvigadzirwa zvakawanda zvakadai sezvinwiwa zvemaindasitiri, kugadzirira kwezvokudya, nezvimwewo) zvinofanira kudziviswa zvachose kune vanhu vane phenylketonuria. Muchokwadi, kana yangobatwa, aspartame inoshandurwa mumuviri kuita phenylalanine. Mupfungwa iyi, inowedzera njodzi yekuunganidzwa kweiyi molecule mumuviri uye njodzi yekuve chepfu kune inorwara. Aspartame inowanikwawo mumishonga yakawanda, kunyanya kutariswa kubva kuvarwere kunodiwa pakutora mamwe mishonga.

Panyaya yekudzivirira, sezvo kutapurirana kwechirwere ichi kuri nhaka, mhuri dzakabatwa nechirwere ichi dzinogona kuwana rubatsiro nemajini.

Kufungidzira kwakasiyana zvichienderana nemurwere uye chimiro chechirwere.