Pozindikira kuti ndi mtundu wanji wa matenda - phenylketonuria, omwe amapezeka pa nthawi ya khanda, amafunika kuti ayambe kumwa mankhwala nthawi yomweyo. Kuzindikira koyamba ndi mankhwala amachititsa kuti zitheke kukwaniritsa zotsatira zabwino.
Phenylketonuria - kodi matendawa ndi chiyani?
Phenylketonuria, kapena Felling's disease, ndi matenda aakulu, omwe amayamba kufotokozedwa mu 1934 ndi wasayansi wa ku Norway wotchedwa Felling. Kenaka kutaya kunayambitsa kafukufuku wa ana angapo omwe ali ndi vuto la m'maganizo ndipo adawululidwa kuti mumapezeka mkodzo wa phenylpyruvate, womwe umagwiritsidwa ntchito chifukwa cha kuwonongeka kwa amino acid phenylalanine, yomwe imabwera ndi chakudya chomwe sichigawikana m'thupi la odwala. Phenylketonuria ndi matenda omwe amagwirizanitsidwa ndi matenda osokoneza bongo a chikhalidwe choyambirira, omwe adapeza chimodzi choyamba.
Phenylketonuria ndi mtundu wa cholowa
Kudula matenda ndi chromosomal-genetic, cholowa, kuperekedwa kwa ana kuchokera kwa makolo awo. Cholinga cha kukula kwa matenda ndi jini yomwe ili pa chromosome 12. Iye ndi amene amachititsa kupanga puloteni yotchedwa phenylalanine-4-hydroxylase, yomwe kutembenuka kwa phenylalanine ku tyrosine ina (imafunikanso kuti thupi likhale labwino).
Zinakhazikitsidwa kuti phenylketonuria imatengedwa monga khalidwe lopitirira. Pafupifupi 2 peresenti ya anthu ali ndi zinyama zopanda chilema, koma savutika ndi phenylketonuria. Matendawa amayamba pamene amayi ndi abambo amapatsira mwanayo jini, ndipo izi zingatheke ndi 25%. Ngati phenylketonuria imatengedwa ngati khalidwe lopambanitsa, mkazi ndi heterozygous, ndipo mwamuna ndi wochepetsetsa kwa chibadwa chonse cha jini, ndiye kuti mwayi woti ana adzakhala wathanzi wa phenylketonuria jini ndi 50%.
Mafomu a phenylketonuria
Poganizira amene angathe kupanga phenylketonuria, mtundu wanji wa matenda, kawirikawiri ndi mtundu wamakono wa matenda, omwe amapezeka pafupifupi 98%. Matenda otsala - cofactor phenylketonuria, omwe amachititsa vuto la tetrahydrobiopterin chifukwa chophwanya kaphatikizidwe kawo kapenanso kubwezeretsanso mawonekedwe. Izi zimagwiritsidwa ntchito monga cofactor wa michere yambiri, ndipo popanda izo, mawonetseredwe a ntchito yawo n'zosatheka.
Phenylketonuria - Zimayambitsa
Matenda othamanga ndi matenda omwe, chifukwa cha kusintha kwa geni komwe kumayambitsa kusowa kapena kuperewera kwa phenylalanine-4-hydroxylase, pali kuwonjezeka m'matumbo ndi matupi a thupi a phenylalanine, komanso zomwe zimagwiritsidwa ntchito pazitsulo zake zosakwanira. Mbali ya phenylalanine yowonjezera imasandulika ku phenylketones, yomwe imatulutsidwa mu mkodzo, chomwe chinadziwika dzina la matendawa.
Kusokonezeka kwa njira zamagetsi kumakhudza kwambiri ubongo. Pamadzimadzi ake, mankhwala amachititsa kuti thupi liwonongeke, zomwe zimapangitsa kuti mafuta asokonezeke kwambiri, kusokonezeka kwa mitsempha ya mitsempha imatha, ndipo mapangidwe a mapuloteni amatha kuchepa. Izi zimayambitsa kukhazikitsidwa kwa matenda opatsirana m'maganizo mwa mwanayo.
Phenylketonuria - zizindikiro
Pa kubadwa, mwana yemwe ali ndi matendawa amawoneka wathanzi, ndipo patapita miyezi 2-6 zizindikiro zoyamba zimapezeka. Zizindikiro za Phenylketonuria zimayamba kuonekera pamene thupi la mwana limaphatikizanso phenylalanine, yomwe imabwera ndi mkaka wa m'mawere kapena zosakaniza kuti adye chakudya. Pakhoza kukhala zizindikiro zoterezi:
- kutaya mtima kwambiri kapena nkhawa;
- kulira kopanda pake;
- chisokonezo ;
- kawirikawiri kubwereza;
- phokoso ;
- matenda ogona.
Kuwonjezera apo, makanda odwala ali ndi khungu loyera, tsitsi ndi maso kuposa anthu abwinobwino a m'banja, zomwe zimakhudzana ndi kuphwanya khungu la khansa m'thupi. Chizindikiro china chodziŵika chimene madokotala kapena makolo osamala amatha kuona ndi mtundu wa "mbewa" fungo lopangidwa ndi kutulutsa phenylalanine mu mkodzo ndi thukuta.
Mawonetseredwe am'chipatala amadziwika kwambiri pa miyezi isanu ndi umodzi, atatha kulandira chakudya choyamba chowonjezera:
- Kulephera kuyang'ana pa phunziro lirilonse;
- Kusayanjanitsika ku chirichonse chomwe chimachitika;
- kusaoneka kwa nkhope, kumwetulira;
- kunjenjemera kwa manja ndi zina zotero.
Zozindikirika ndizozosawonongeka kwa thupi: ukulu wa mutu waung'ono, nsagwada yamtundu wapamwamba, lag mu kukula. Ana odwala pambuyo pake ayamba kugwira mitu yawo, kukwawa, kukhala pansi, kudzuka. Udindo wapadera pa malo wokhalapo ndiwowonjezera - wotsogola "wolowa," ndi mikono nthawi zonse yokhotakhota pamakona, ndi miyendo pamabondo. Ndili ndi zaka zitatu, ngati mankhwalawa asanayambe, zizindikirozo zikukula.
Phenylketonuria - Kuzindikira
Phenylketonuria mwa ana nthawi zambiri amawonekera kuchipatala cha amayi omwe amamwalira, chomwe chimalola kuyamba mankhwala nthawi ndikuteteza chitukuko cha zotsatira zosasinthika. Pakapita masiku 4-5 atabadwa, makanda amatenga magazi m'mimba yopanda kanthu kuti azindikire matenda aakulu a chibadwa, pakati pawo - phenylketonuria. Ngati kachidutswa ka chipatala chakumayi chikachitika kale, kufotokozera kwachitika po polyclinic pamalo okhalamo masiku 10 oyambirira a moyo.
Popeza kuti nthawi zambiri, pali zotsatira zolakwika, matendawa sakhala atakhazikitsidwa motsatira zotsatira za kafukufuku woyamba. Pofuna kutsimikizira za matenda omwe alipo, maphunziro ena angapo amaperekedwa, mwa iwo:
- urinalysis kwa kudziwika kwa phenylpyruvate;
- kuchuluka kwa phenylalanine ndi tyrosine mu plasma;
- kuyesa ntchito yowonongeka ya enzyme;
- electroencephalography komanso kujambula kwa ubongo wa ubongo.
Mthendayi ya chibadwa yomwe imayambitsa kukula kwa matenda angawonekere mu mwana wakhanda pamene akudwala matenda opatsirana pogonana. Kuti muchite izi, zitsanzo za maselo ochokera ku villus chorion kapena amniotic madzi amasankhidwa, kenako DNA ikuyesedwa. Ndikoyenera kuti phunziroli m'mabanja likhale ndi chiopsezo chachikulu, kuphatikizapo, ngati alipo kale ndi phenylketonuria.
Phenylketonuria - mankhwala
Pamene phenylketonuria imapezeka kwa ana obadwa kumene, madokotala otchuka monga geneticist, dokotala wa ana, katswiri wa zamagulu, katswiri wa zakudya ayenera kusamalira odwala. Iwo amene amadziwa, phenylketonuria - ndi mtundu wanji wa matenda, zidzakhala zomveka chifukwa chake chithandizo chake ndi kutsatira chakudya ndi chiletso cha phenylalanine. Kuonjezera apo, mankhwala, kupaka minofu, physiotherapy, njira zamaganizo ndi zachiphunzitso zogwirizanitsa mwanayo, kukonzekera kuphunzira, zimaperekedwa.
Phenylketonuria - zakudya
Mukapeza "phenylketonuria", chakudya cha mwana chimaperekedwa mwamsanga. Kuchokera pa zakudya, zakudya zopangidwa ndi mapuloteni (nyama, nsomba, mkaka, nyemba, mtedza ndi zina) zimachotsedwa. Kufunika kwa mapuloteni kumaperekedwa chifukwa cha zakudya zosafunika ndi zakudya zina ndi berlofen - semisynthetic protein hydrolyzate, yopanda phenylalanine (Tetrafen, Lofenalak, Nofelan). Odwala amatenga mkate wopanda mapuloteni, pasitala, tirigu, mousses ndi zina zotero. Kuyamwitsa kumachitika pokhapokha.
Kudalira kwambiri chakudya ndi kuyang'anitsitsa kachitidwe ka phenylalanine m'magazi m'zaka 14-15 za moyo woyamba kumalepheretsa kukula kwa maganizo olakwika. Kenaka zakudyazo zimakula kwambiri, koma akatswiri ambiri amalimbikitsa anthu kuti azidya chakudya chapadera. Mtundu wa cofactor wa phenylketonuria sutetezedwa ndi zakudya, koma umakonzedwa kokha ndi kayendedwe ka tetrahydrobiopterin.
Phenylketonuria - mankhwala ochizira
Chithandizo cha Phenylketonuria kwa ana chimaperekanso kudya kwa mankhwala ena monga:
- nootropics ( Piracetam , Cerebrolysin);
- mavitamini a gulu B;
- mineral complexes;
- mankhwala osokoneza mavitamini (ATP, Riboxin );
- mankhwala osokoneza bongo (Trental, Pentoxifylline).
Phenylketonuria - kufotokoza kwa moyo ndi matenda
Makolo omwe amadziwa nokha mtundu wa matenda a chibadwa - phenylketonuria, m'masiku amakono amapatsidwa mpata wokulera mwana wathanzi, ngati mutatsatira malangizo onse achipatala. Pamene mankhwala oyenera sapezeka, phenylketonuria akudandaula ndizokhumudwitsa: odwala amakhala ndi zaka pafupifupi 30 ali ndi vuto lalikulu la matenda komanso matenda osiyanasiyana.