Kodi mwana wanu ali ndi PKU (Phenylketonuria)? Musadandaule, tiyeni tidziwe izi mosavuta!

Chisangalalo chomwe mumamva mukamaona mwana wanu wakhanda sichingathe kufotokozedwa, sichoncho? Koma kenako, mukamva za mayeso ena omwe amachitidwa kuchipatala mwana akabadwa, mumamva mantha pang'ono komanso chidwi. Chimodzi mwa mayeso otere ndi mayeso a PKU. Mwina simunamvepo za dzinali. Koma iyi ndi mayeso ofunikira kwambiri. Lero tikulankhula za matenda osowa awa otchedwa PKU, koma ngati atapezeka msanga, amatha kulamulidwa kwathunthu ndipo mwana akhoza kukhala ndi moyo wathanzi.

Mwachidule, kodi PKU (Phenylketonuria) ndi chiyani?

PKU, kapena Phenylketonuria, ndi matenda osowa kwambiri a majini . Amabadwa kuchokera kwa makolo. Mwana amene ali ndi vutoli sangathe kugaya bwino, kapena kuswa, amino acid phenylalanine, yomwe imapezeka muzakudya zamapuloteni zomwe timadya.

Taganizirani matupi athu ngati fakitale yayikulu. Chakudya chomwe timadya ndi zinthu zopangira zomwe timayikamo. Zinthu zopangira izi zimagwiritsidwa ntchito ndi antchito ang'onoang'ono otchedwa ma enzymes kuti apange zinthu zomwe matupi athu amafunikira. Mwana yemwe ali ndi PKU amakhala ndi enzyme yapadera yotchedwa phenylalanine hydroxylase (PAH) yochepa kapena yopanda kupanga, yomwe imaphwanya phenylalanine.

Nanga chimachitika n’chiyani? Phenylalanine, yomwe imapezeka kuchokera ku mkaka wa m’mawere ndipo pambuyo pake kuchokera ku zakudya zomwe mwana amadya, imayamba kusonkhana m’magazi m’malo mochotsedwa m’thupi. Pamene kuchuluka kwa phenylalanine komwe kumasonkhana mwanjira imeneyi kukuwonjezeka, kumakhala poizoni ku ubongo wa mwana . Ngati sikuchiritsidwa, izi zitha kuwononga ubongo ndikuyambitsa mavuto aakulu monga kulemala kwa nzeru ndi kuchedwa kwa chitukuko.

Kodi zizindikiro za PKU ndi ziti?

Mwana amene ali ndi PKU amaoneka wathanzi kwambiri akangobadwa. Choncho, poyamba, sipangakhale kusintha kulikonse. Ngati sanalandire chithandizo, zizindikiro zimayamba kuonekera pakati pa miyezi itatu ndi isanu ndi umodzi. Panthawiyi, mungaone kuchedwa pang'ono pakukula kwa mwana wanu.

Mwana akafika chaka chimodzi, ngati sanalandire chithandizo, zizindikiro zotsatirazi zingayambe kuonekera.

Kodi mimba imakhudza bwanji mayi amene ali ndi PKU?

Iyi ndi mfundo yofunika kwambiri. Ngati mayi yemwe ali ndi PKU atenga mimba ndipo vuto lake la PKU silikulamuliridwa panthawiyo, likhoza kukhudza mwana m'mimba. Kuchuluka kwa phenylalanine m'magazi a mayi kukhoza kuvulaza mwana.

Izi zimawonjezera chiopsezo cha kutayika kwa mimba ndipo zingayambitsenso mavuto osiyanasiyana kwa mwana wosabadwayo.

• Matenda a mtima obadwa nawo
• Kusintha kwina kwa mawonekedwe a nkhope
• Kubadwa ndi kulemera kochepa
• Mutu wawung'ono (microcephaly)

N’chifukwa chiyani matenda a PKU amayamba? Kodi chifukwa chake n’chiyani?

Monga tafotokozera kale, PKU ndi matenda a majini. Amayambitsidwa ndi kusintha kwa majini otchedwa `PAH` m'thupi lathu. Jini iyi ya `PAH` imalangiza thupi lathu kupanga enzyme yomwe imaphwanya phenylalanine. Pakakhala kusintha kwa majini, enzyme imeneyo siipangidwa, kapena pali vuto pakupanga kwake.

Matendawa amabadwa nawo mu autosomal recessive pattern. Mwachidule, ndi motere:

Kuti mwana apeze matendawa, ayenera kulandira kopi imodzi ya jini yosinthidwa kuchokera kwa amayi ndi abambo ake . Ngati angolandira jini kuchokera kwa kholo limodzi, mwanayo sangadwale matendawa. Komabe, kholo limenelo likhoza kukhala ndi kachilomboka. Izi zikutanthauza kuti mwina sangakhale ndi zizindikiro, koma akhoza kupatsira jiniyo kwa ana awo mtsogolo.

Kodi madokotala amazindikira bwanji PKU?

Kuzindikira PKU kwakhala kosavuta tsopano chifukwa cha kuyezetsa ana akhanda.

Pakati pa maola 24 ndi 72 mwana wanu atabadwa, dokotala kapena namwino kuchipatala adzabaya chidendene cha mwana wanu ndi singano yaying'ono ndikusonkhanitsa madontho ochepa a magazi pa khadi lapadera. Izi zimatchedwa 'kuyesa kwa chidendene.' Chitsanzo cha magazi ichi chimagwiritsidwa ntchito poyesa kuchuluka kwa phenylalanine m'magazi a mwana wanu.

Ngati kuchuluka kwa phenylalanine m'magazi kuli kokwera, mayeso ena a magazi ndi mkodzo amachitidwa kuti atsimikizire matendawa. Nthawi zina, mayeso a majini amatha kuchitika kuti adziwe kusintha kwa majini komwe kumayambitsa matendawa.

Kodi mankhwala a PKU ndi otani?

Palibe mankhwala a PKU. Komabe, vutoli lingathe kuchiritsidwa bwino moyo wonse . Zizindikiro zimatha kubwereranso ngati chithandizo chayimitsidwa. Chithandizo chachikulu ndi zakudya zapadera komanso nthawi zina mankhwala.

1. Zakudya zapadera zomwe zili ndi phenylalanine yochepa

Ichi ndiye gawo lofunika kwambiri komanso lalikulu la kasamalidwe ka PKU.Munthu amene ali ndi PKU ayenera kutsatira zakudya zochepa za phenylalanine kwa moyo wake wonse.

Popeza phenylalanine ndi gawo la mapuloteni, zakudya zokhala ndi mapuloteni ambiri ziyenera kuchepetsedwa .

• Nyama, nsomba, nkhuku
• Mazira
• Mkaka ndi zinthu za mkaka (yogati, tchizi)
• Mbewu monga lentils ndi nandolo
• Zogulitsa za soya
• Mtedza

Komabe, popeza thupi limafunika kuchuluka kwa mapuloteni kuti likule, muyenera kulankhula ndi katswiri wa zakudya kuti adziwe kuchuluka kwa mapuloteni omwe mungadye. Adzapanga dongosolo la chakudya chopatsa thanzi lomwe liyenera mwana/munthu amene ali ndi PKU.

Makanda obadwa kumene omwe ali ndi PKU ayenera kuyambitsidwa ndi njira yapadera yomwe ilibe phenylalanine nthawi yomweyo.

2. Mankhwala

Kwa odwala ena a PKU, mankhwala angathandize kuwonjezera pa zakudya. Mankhwalawa ayenera kugwiritsidwa ntchito pokhapokha ngati dokotala wawalangiza.

• Sapropterin dihydrochloride (Kuvan®): Mankhwalawa amathandiza odwala ena kuswa phenylalanine m'thupi. Komabe, muyenera kupitiriza kutsatira zakudya zina mukamamwa mankhwalawa.
• Pegvaliase (Palynziq®): Iyi ndi katemera wovomerezeka kwa odwala akuluakulu. Imapatsa thupi enzyme yomwe imaphwanya phenylalanine.

Kodi n'zotheka kukhala ndi moyo wabwinobwino ndi PKU?

Inde, ndi zoonadi! Ngakhale kuti PKU ndi matenda omwe munthu amakhala nawo kwa moyo wake wonse, ngati atapezeka msanga ndikuthandizidwa bwino, zotsatira zake pa thanzi zitha kuchepetsedwa.

Kutsatira zakudya zopanda mapuloteni ambiri kwa moyo wanu wonse kungakhale kovuta nthawi zina. Koma simuli nokha. Dokotala wanu komanso katswiri wa zakudya nthawi zonse amakhalapo kuti akuthandizeni. Komanso, kulowa m'magulu othandizira ndi anthu ena omwe ali ndi PKU kungakuthandizeni kugawana zomwe mwakumana nazo ndikupeza mphamvu.

Mwina munawonapo mabotolo a zakumwa za 'zakudya' ndi mapaketi a chingamu okhala ndi mawu ochenjeza akuti "Phenylketonurics: Ili ndi phenylalanine." Izi ndi kudziwitsa anthu omwe ali ndi PKU kuti mankhwalawa ali ndi aspartame, yomwe ili ndi phenylalanine.

Ngati inu kapena banja lanu mukuvutika maganizo ndi matenda anu a PKU, musazengereze kulankhula ndi mlangizi wa zaumoyo wamaganizo . Thanzi la maganizo ndi lofunika mofanana ndi thanzi la thupi.