Thaum pom tias hom kab mob twg - phenylketonuria, kuaj pom thaum lub sij hawm yug menyuam, nws yuav tsum pib kho tam sim thaum nws kuaj tau. Kev paub ntxov thiab kev kho thaum ntxov yuav ua kom tau cov txiaj ntsim zoo.
Phenylketonuria - tus kab mob no yog dab tsi?
Phenylketonuria, los yog Felling's tus kab mob, yog ib txoj kab mob loj, thawj zaug uas tau piav qhia nyob rau hauv 1934 los ntawm Norwegian tus kws tshawb fawb Felling. Tom qab ntawd, Felling nrhiav tau tshawb fawb ntawm ob peb cov menyuam uas muaj hlwb ruamqauj thiab qhia nyob rau hauv lawv lub qhov muag ntawm phenylpyruvate, qhov khoom ntawm kev ua txhaum ntawm cov amino acid phenylalanine, uas tuaj nrog zaub mov, uas tsis faib rau cov neeg mob lub cev. Phenylketonuria yog ib yam kab mob uas muaj teeb meem ntawm metabolic ntawm ib yam xwm txheej, nrhiav tau ib qho ntawm thawj.
Phenylketonuria yog hom kab ke
Tus kab mob ntsaws yog ib tug chromosomal-genetic, hereditary, kis rau cov menyuam ntawm lawv niam lawv txiv. Cov culprit rau txoj kev loj hlob ntawm pathology yog cov noob nyob rau ntawm 12 chromosome. Nws yog lub luag hauj lwm rau kev tsim cov tshuaj hepatic enzyme phenylalanine-4-hydroxylase, los ntawm kev hloov cov phenylalanine rau lwm yam khoom - tyrosine (nws yog qhov tsim nyog rau lub cev ua haujlwm).
Nws tau tsim muaj cov tshuaj phenylketonuria los ua ib qho kev zoo nkauj. Kwv yees li ntawm 2% ntawm cov neeg uas muaj cov noob qis, tab sis lawv tsis raug kev txom nyem los ntawm phenylketonuria. Tus kab mob no tsuas yog thaum leej niam thiab leej txiv sib pauv mus rau tus me nyuam, thiab qhov no tshwm sim tau nrog 25%. Yog tias phenylketonuria tau txais los ntawm kev ua kom zoo dua qub, tus poj niam yog tus heterozygous, thiab tus txiv yog homozygous rau lub cev txhua tus ntawm cov noob, ces qhov yuav tshwm sim rau cov me nyuam yuav noj qab nyob zoo ntawm cov pa roj carbon phenol roj hmab yog 50%.
Cov ntaub ntawv ntawm phenylketonuria
Xav tias leej twg muaj peev xwm tsim muaj phenylketonuria, tus kab mob zoo li cas, feem ntau nws yog ib hom kab mob ntawm cov kab mob pathology, uas tshwm sim ntawm 98% ntawm cov neeg mob. Cov kis ntxiv - cofactor phenylketonuria, tshwm sim los ntawm tetrahydrobiopterin defect vim muaj kev ua txhaum ntawm nws cov synthesis los yog restoration ntawm daim ntawv. Qhov yeeb tshuaj no ua hauj lwm raws li ib tug cofactor ntawm ib tug xov tooj ntawm cov enzymes, thiab yog tsis muaj nws, qhov uas lawv cov kev ua yeeb yam tsis paub.
Phenylketonuria - Ua rau
Tus kabmob phais yog ib yam kabmob nyob rau hauv, vim kev hloov nyob rau hauv cov noob uas ua rau tsis muaj peev xwm lossis tsis muaj phenylalanine-4-hydroxylase, muaj kev txuam nrog cov nqaij thiab cov roj ntsha physiological ntawm cov phenylalanine, thiab cov khoom ntawm nws cov khoom tsis tiav. Ib feem ntawm cov phenylalanine ntau yog hloov dua siab tshiab rau phenylketones, uas yog tso tawm hauv cov zis, uas yog dab tsi txiav txim siab lub npe ntawm tus kab mob.
Qhov cuam tshuam ntawm metabolic dab cuam tshuam feem ntau lub hlwb. Rau nws cov ntaub so ntswg, ua rau muaj kev mob toxic, cov txheej txheem ntawm cov roj metabolism hauv kev cuam tshuam, cuam tshuam ntawm cov hlab ntsha fibers tsis, thiab tsim los ntawm cov neurotransmitters decreases. Yog li ntawd pib lub tso tawm ntawm cov tswv yim ntawm kev puas hlwb ntawm tus me nyuam.
Phenylketonuria - cov tsos mob
Thaum yug tus menyuam, tus menyuam uas muaj tus kab mob no zoo nkaus li noj qab nyob zoo, thiab tsuas yog tom qab 2-6 hli thawj zaug pom tshwm sim. Cov tshuaj Phenylketonuria pib tshwm sim thaum tus me nyuam lub cev tau tshwm sim phenylalanine, uas tuaj nrog mis niam los yog cov khoom noj sib xyaw rau kev pub mis. Tej zaum yuav tsis muaj cov tsos mob tshwj xeeb:
- ntau dhau ntawm qaug zog lossis ntxhov siab;
- causeless cries;
- npau suav dystonia ;
- nquag hloov kho;
- kev sib ceg ;
- pw tsaug zog.
Tsis tas li ntawd, cov me nyuam muaj mob muaj zog dua cov tawv nqaij, plaub hau thiab qhov muag tshaj cov neeg noj qab nyob zoo ntawm tsev neeg, uas yog cuam tshuam nrog kev ua txhaum ntawm cov kab mob pigment melanin hauv lub cev. Lwm qhov kev tshuaj ntsuam xyuas pom tias cov kws kho mob lossis cov niam txiv uas tuaj yeem tuaj yeem lees paub yog ib hom "nas" tsis hnov tsw los ntawm kev tso tawm phenylalanine hauv zis thiab hws.
Cov kev mob tshwm sim tuaj yeem hais ntau tshaj li ntawm rau lub hlis tom qab, tom qab qhia txog thawj qhov kev noj mov ua tiav:
- tsis muaj peev xwm ua ntsej muag rau tib neeg kev kawm;
- kev tsis txaus siab rau txhua yam uas tshwm sim;
- tsis muaj ntsej muag ntawm lub ntsej muag, luag nyav;
- tremor ntawm txhais tes thiab li ntawd.
Kev ceeb toom kuj yog kev txawv txav ntawm lub cev: lub me me loj, lub puab tsaig sab nraud, lub lag luam loj hlob. Cov me nyuam mob tom qab pib tuav lawv lub taub hau, nkag, zaum, sawv. Ib txoj hauj lwm tshwj xeeb hauv txoj hauj lwm zaum yog - tus "tub ntsej muag" qhov ncauj, nrog cov npab tas li ntawm lub luj tshib, thiab ob txhais ceg ntawm lub hauv caug. Thaum muaj hnub nyoog peb xyoos, yog tias tsis tau pib kho, qhov kev mob tshwm sim loj tuaj.
Phenylketonuria - Kev kuaj mob
Phenylketonuria hauv cov me nyuam feem ntau kuaj tau hauv lub tsev kho mob, uas tso cai rau pib kho mob raws sij hawm thiab tiv thaiv kom tsis txhob muaj kev tsim txom. Thaum 4-5 hnub tom qab yug tus me nyuam, cov me nyuam noj cov quav hniav hauv lub plab kom paub meej txog qee cov kev mob loj heev, ntawm lawv - phenylketonuria. Yog tias Extract los ntawm lub tsev kho mob me nyuam yug ua ntej lawm, qhov kev ntsuam xyuas tau ua nyob hauv tsev kho mob nyob ntawm qhov chaw nyob ntawm thawj 10 hnub ntawm lub neej.
Vim tias tsis tshua muaj tshwm sim, muaj cov kev ntsuam xyuas tsis raug, qhov kev ntsuam xyuas yog tsis tau tsim raws li cov txiaj ntsig ntawm qhov kev ntsuam xyuas thawj zaug. Kom paub meej tias tus kab mob uas twb muaj lawm, muaj ntau txoj kev tshawb fawb, ntawm cov uas:
- tso zis rau qhov kuaj pom phenylpyruvate;
- kev txiav txim siab ntawm phenylalanine thiab tyrosine hauv plasma;
- kev txiav txim siab ntawm kev ua haujlwm hepatic enzyme;
- electroencephalography thiab magnetic resonance imaging ntawm lub hlwb.
Ib qho tshuaj tua kab mob uas ua rau txoj kev loj hlob ntawm tus kabmob no tuaj yeem kuaj tau nyob rau hauv lub fetus thaum lub caij tus poj niam cev xeeb tub. Ua li no, cov qog ntawm cov qoob loo los ntawm villus chorion los yog amniotic kua raug xaiv, thiab tom qab ntawd DNA ntsuam. Nws raug pom zoo hais tias txoj kev tshawb fawb hauv cov tsev neeg muaj qhov muaj feem muaj mob morbidity, nrog rau, yog tias twb muaj menyuam nrog phenylketonuria.
Phenylketonuria - kev kho mob
Thaum kuaj pom muaj phenylketonuria hauv cov me nyuam mos, cov kws kho mob ntawm cov kws kho mob tshwj xeeb yog cov kws kho mob, kws kho plab, kws kho mob paj hlwb, tus kws qhia noj haus yuav tsum tau saib xyuas tus neeg muaj mob. Cov neeg paub, phenylketonuria - hom kab mob dab tsi, nws yuav paub tseeb vim li cas nws txoj kev kho mob yog ua raws li kev noj haus nrog kev txwv ntawm phenylalanine. Tsis tas li ntawd, kev noj tshuaj, kev zom, kev siv lub cev, kev xav ntawm lub hlwb thiab kev coj tus cwj pwm ntawm tus me nyuam, kev npaj rau kev kawm, raug sau tseg.
Phenylketonuria - noj haus
Thaum kuaj pom tias "phenylketonuria", kev noj haus rau ib tug me nyuam raug hais sai li sai tau. Los ntawm kev noj haus, cov khoom noj muaj protein ntau (nqaij, ntses, khoom noj siv mis, khoom qab zib, ceev thiab lwm tus) tsis suav. Qhov yuav tsum tau rau cov proteins uas tau them los ntawm cov khoom noj tshwj xeeb mixtures thiab lwm yam khoom nrog berlofen - semisynthetic protein hydrolyzate, ua devoid of phenylalanine (Tetrafen, Lofenalak, Nofelan). Cov neeg mob tau noj cov mov tsis muaj protein ntau, pasta, cereals, mousses thiab lwm yam. Kev pub niam mis yog ua los ntawm kev siv tshuaj tsawg.
Ntsig ua raws li kev noj haus nrog kev saib xyuas cov ntsiab lus ntawm phenylalanine nyob rau hauv cov ntshav thaum thawj 14-15 xyoo ntawm lub neej tiv thaiv kev loj hlob ntawm kev puas siab puas ntsws. Tom qab ntawd kev noj haus yog me ntsis txhab, tab sis ntau tus kws txawj pom zoo kom ua neej nyob ua ke ntawm kev noj haus tshwj xeeb. Tus cofactor daim ntawv ntawm phenylketonuria tsis raug kho los ntawm kev noj haus, tab sis yog kho tsuas yog los ntawm kev tswj hwm ntawm tetrahydrobiopterin npaj.
Phenylketonuria - tshuaj rau kev kho mob
Kev kho cov tshuaj hauv plab menyuam hauv plab kuj tseem yuav pab kom tau txais qee yam tshuaj, xws li:
- nootropics ( Piracetam , Cerebrolysin);
- vitamins ntawm pab pawg B;
- mineral complexes;
- tshuaj rau kev txhim kho cov nqaij mos metabolism (ATP, Riboxin );
- yeeb tshuaj uas txhim kho microcirculation (Txoj Kev, Pentoxifylline).
Phenylketonuria - kev mob rau lub neej thiab kab mob
Cov niam txiv uas paub txog hom kab mob caj ces - phenylketonuria, hauv cov caij nyoog niaj hnub raug muab lub sijhawm rau tus menyuam noj qab nyob zoo, yog tias koj ua raws li tag nrho cov ntawv kho mob. Thaum tsis muaj kev kho mob zoo lawm, tus mob phenylketonuria yog tu siab: cov neeg mob nyob txog 30 xyoo uas muaj kev puas hlwb loj heev thiab ntau yam kev ua haujlwm.