Tus txheej txheem ntawm ketonuria.

Hauv ib tus neeg noj qab haus huv, carbohydrates, lipids, thiab qee cov protein yog oxidized rau carbon dioxide thiab dej. Hauv qee qhov mob kabmob, tshwj xeeb nrog ntshav qab zib, insulin ntau lawm poob qis. Hauv daim siab, glycogen reserves yog txo, ntau lub cev nqaij yog nyob rau hauv lub xeev ntawm lub zog kev tshaib plab. Nyob rau cov xwm txheej no, cov txheej txheem ntawm oxidation ntawm cov protein thiab lipids hauv lub siab ua haujlwm, tab sis qhov tsis muaj glycogen ua rau lawv cov oxidation tsis tiav thiab tsub zuj zuj hauv cov ntshav ntawm cov khoom tsis muaj cov lipid thiab protein metabolism - ketone lub cev. Vim tias kev txuam nrog ketone lub cev hauv cov ntshav (ketonemia), pH ntawm cov ntshav hloov mus rau sab acid. Tus mob no yog hu ua acidosis. Cov zis ntawm cov neeg mob zoo li no muaj cov tshuaj tiv thaiv acid thiab ntxhiab tsw ntxhiab ntawm acetone.

Kev tshaib plab, kev siv cov zaub mov muaj protein ntau thiab cov khoom noj muaj roj, qhov tsis suav ntawm cov khoom noj carbohydrates los ntawm kev noj zaub mov ua rau muaj kev tsim cov ketone lub cev ntau dua thiab lawv cov zis hauv lub tso zis.

Thaum muaj hnub nyoog ntxov, ketonuria muaj ntau dua li cov neeg laus thiab tsis muaj qhov tseem ceeb hauv chaw kuaj mob. Qhov tshwm sim no yog qhov txaus siab rau tus kws kho mob hlwb nrog "mob ncauj plab" uas cuam tshuam nrog kev yuam kev ntawm zaub mov noj.

Ketonuria nyob rau lub sijhawm tom qab tau tas yog vim muaj cov protein tsis txaus vim yog raug mob.

Hauv cov laus, ketonuria tshwm sim rau cov mob ntshav qab zib hnyav thiab yog qhov tseem ceeb rau kev kuaj mob. Hauv cov menyuam yaus, nws tuaj yeem nyob nrog ntau yam kabmob, vim qhov kev ncig ntawm cov metabolism hauv cov kabmob. Yog li, txawm tias qhov ua yuam kev me me hauv cov zaub mov noj, tshwj xeeb tshaj yog nyob rau ntawm muaj cov mob sib kis, mob siab, ua haujlwm dhau, thiab lwm yam. tuaj yeem ua rau ketosis. Ketonuria thaum yau tuaj yeem pom nrog toxicosis, mob ntev lub plab zom mov, mob plab thiab lwm yam kab mob. Hauv cov menyuam mos yug tshiab, ib qho kev nce hauv cov ketones nyob rau hauv lub cev yog yuav luag ib txwm muaj los ntawm kev tsis zoo. Ketonuria, pom nyob rau hauv cov kis mob - ua npaws caws pliav, khaub thuas, tuberculous meningitis thiab intoxication, yog tus yam ntxwv thib ob, hloov mus thiab tsis muaj tus kabmob muaj txiaj ntsig zoo rau kev kuaj mob.

Ketonuria rau ntshav qab zib nthuav dav vim qhov muaj zog ketogenesis thiab ketolysis tsis txaus. Ketogenesis ntau zuj zus ua rau muaj kev nce ntxiv ntawm cov rog los ntawm cov nqaij mos adipose, txo qis hauv kev tsim ntawm oxalacetate hauv lub voj voog Krebs, thiab txo qis ntawm biosynthesis ntawm fatty acids. Hauv cov ntshav qab zib hnyav, nrog rau kev puas tsuaj rau lub raum cov ntaub so ntswg (qhov chaw rau kev rhuav tshem ketones), kev ua txhaum ntxiv ntawm ketolysis tshwm sim.

Qhov qog ntawm glucosuria nyob rau hauv muaj ketonuria tsis suav ntshav qab zib.

Nquag, ketone lub cev raug tsim nyob rau hauv tus nqi tsawg los ntawm qhov khoom kawg ntawm cov khoom noj ua kom tau cov carbohydrate thiab lipid metabolism - acetyl-CoA (C₂-bodies) los ntawm acetoacetyl-CoA thiab yuav luag tsis muaj kev cuam tshuam dab tsi.

Hauv cov kab mob ntshav qab zib mellitus, qhov kev sib txuam ntawm cov lipids nce nrog kev tsim cov nyiaj ntau ntawm acetyl CoA (C₂lub cev). tib lub sijhawm, vim kev ua txhaum ntawm cov metabolism hauv cov metabolism, muaj kev txo qis hauv kev tsim ntawm oxalacetate, uas C₂-bodies suav nrog hauv Krebs ncig thiab hlawv cov pa roj carbon dioxide thiab dej. Tsis tas li ntawd, vim muaj kev cuam tshuam lipid ntau dua, qhov thim rov qab biosynthesis ntawm C yog txhaws.₂lub cev mus rau hauv lub cev rog. Yog li, qhov ntau ntawm C ntau zuj zus₂-yog leej twg, uas ua rau cov khoom lag luam ntau ntawm CoA, thiab yog li ntawd acetone, acetoacetic thiab beta-hydroxybutyric acid, uas tau tawm hauv cov zis.

Ketone lub cev

Cov no yog cov khoom nruab nrab tsis zoo uas tsim thaum lub siab ua haujlwm. Feem ntau, cov roj metabolism ua kom pom cov ketone lub cev mus rau kev ua tsis zoo ntxiv.

Lub cev cov piam thaj tau pom nyob hauv lub cev rog, uas yog vim li cas ketonuria yog qhov muaj zog cov carbohydrates tsis muaj zog. Ketone lub cev yog lub chaw pabcuam hluav taws xob zoo. Hauv qhov no, txawm tias fatty acids poob qis qab lawv. Yog li no, thaum lub hlwb los yog lub siab tsis muaj phosphoric acids, lub cev tam sim ntawd tsim tawm lub cev ketone ntawm kev nrawm.

Dab tsi yog vim li cas

Ketonuria yog cov zis ntawm ketone lub cev saum toj ib txwm.

Hauv tib neeg lub cev noj qab nyob zoo, cov metabolism hauv tau zoo yog sib npaug. Dab tsi ua rau ketonuria?

• Qhov tseem ceeb ntawm cov protein thiab rog nyob hauv cov zaub mov noj. Vim tias cov zaub mov ua kom muaj protein tsawg tsawg, cov cell tsis muaj zaub mov. Tawm tsam no keeb kwm yav dhau los, ketonuria nthuav dav. Nov yog qhov kev tawm tsam ntawm lub cev mus rau qhov tsis txaus ntseeg hauv kev noj haus.

• Kev noj haus thiab kev tsim txom ntawm kev tshaib plab tuaj yeem ua rau pom ntawm ketone lub cev hauv cov zis. Yuam kev hauv kev xaiv cov zaub mov noj ua rau lub cev rog sai sai, thaum muaj pes tsawg tus enzymes nce. Ketonuria tseem yog qhov pom ntawm acetone hauv cov ntshav. Feem ntau, yog tias ib tus neeg tuag tshaib rau ntau dua rau hnub, cov ntsiab lus ntawm ketone lub cev hauv tib neeg lub cev nce siab dua ib txwm.
• Tshuaj loog rau kev phais mob.
• Mob ntshav qab zib mellitus. Hauv qhov no, ketonuria tshwm ib lub sijhawm. Ketone lub cev ib leeg tsis yog tus tsim cov kab mob. Ntawm ntshav qab zib mellitus, ib chav kawm ntxiv ntawm carbohydrates thiab insulin yog tshuaj.
• Lub cev qhuav dej. Nws tshwm sim thaum lub cev overheats lossis yog ib qho kev cuam tshuam ntawm cov ntshav qab zib.
• Kab mob siab lossis mob kis hnyav heev (piv txwv li, mob plab zaws).
• Kev tsim tawm qog ua haujlwm hauv cov hnyuv.
• Kev tsis sib haum xeeb ntawm tus kabmob.
• Lom los ntawm haus dej cawv los yog los ntawm cov tshuaj lom neeg cov tshuaj xws li phosphorus, txhuas.
• Kev puas tsuaj rau lub hauv nruab nrab lub paj hlwb, poob siab.

Nco ntsoov tias qhov hnov ​​ntxhiab tsw ntxhiab ntawm acetone thaum ua pa lossis tso zis yog lub cim kom mus ntsib kws kho mob. Nws kuj tseem yog ib qho laj thawj uas yuav hloov pauv kev ua neej thiab kev noj zaub mov zoo.

Saib xyuas cov menyuam yaus

Feem ntau cov chaw kho mob tau sab laj yog tias tus me nyuam ntuav, tsis hnov ​​ntxhiab ntawm acetone. Los yog xws li tsis hnov ​​ntxhiab tsw nyob hauv zis. Thiab txawm hais tias nws yog tus cim ntawm ketonuria, nws tsis tas yuav muaj cov tsos mob ntawm tus mob hnyav.

Feem ntau, txhua yam yog piav qhia los ntawm kev siv cov kab mob ua tsis tiav. Qhov ua rau ketonuria rau menyuam yaus yog qhov xwm txheej uas tau siv lub zog tseem ceeb. Feem ntau nws tshwm sim thaum:

• kev xav hloov pauv
• kev tawm dag zog lub cev,
• kev noj tsis txaus
• mob khaub thuas

Qhov tseeb yog tias tus me nyuam lub cev tsis muaj lub khw muag khoom loj ntawm glycogen, yog li ntawd, kev cuam tshuam ntawm cov rog feem ntau tshwm sim thiab cov cim ntawm ketonuria tau pom.

Cev xeeb tub

Rau cuaj lub hlis ntawm cev xeeb tub, cov pojniam feem ntau yuav tsum tau kuaj cov kab mob zis. Qhov no yog qhov tsim nyog nyob rau hauv kom tsis txhob plam qhov hloov me me ntawm qhov tsis xws luag hauv lub cev rau lub sijhawm tag nrho ntawm lub cev. Qhov tseeb, txhua qhov kabmob muaj lub nra hnyav. Nws txhais li cas hais tias ketone lub cev pom muaj nyob hauv cov zis?

Feem ntau lawv cov ntsiab lus me me yog cov qauv. Qhov kev ntsuas tau yooj yim yuav dhau qhov kev sim nrawm. Koj yuav tsum txo qis ntawm txoj hlua ntsuas hauv lub qhov zis.

Qhov kev kuaj tsis zoo yog suav tias yog ib txwm thaum cev xeeb tub lossis tus naj npawb ntawm ketones yog tsawg heev. Yog tias qhov ntsuas tus nqi yog los ntawm 15 txog 160 mg / dl - qhov no ua rau muaj kev txhawj xeeb.

Thaum cev xeeb tub, ketonuria yog cov tsos mob ceeb toom. Nws pom nrog thaum ntxov toxicosis. Kev lom zem hauv lub cev, thiab chaw pib ua rau cov menyuam hauv plab muaj acetone, ua rau lub cev xeeb tub hloov mus los.

Yog tias tus poj niam cev xeeb tub muaj qhov teeb meem tshuaj hormones ntau, nws qhov kev pheej hmoo.

Kev nce qib ntawm ketones nyob rau hauv cov zis ntawm tus menyuam tshiab yog vim tsis txaus noj haus lossis zaub mov tsis raug.

Cov tsos mob ntawm Ketonuria

Yog tias qib ketones hauv lub cev tau nce siab, ces ketonuria yuav tshwm sim nws tus kheej:

• sab sab kev nkees nkees
• hnov tsw ntawm acetone los ntawm lub qhov ncauj,
• tso zis acetone tsw
• kev tsom xam yuav qhia cov qib qe ntshav dawb hauv cov ntshav,
• kev kuaj ntshav biochemical yuav qhia cov ntsiab lus tsis zoo qab zib,

Yog tias ketonuria ua rau muaj kev dhia hauv cov ntshav ntawm acetone, tom qab ntawd muaj kev daws teebmeem acetone.

Ib qho nce ntxiv rau hauv acidity hauv cov hlwb yuav ua rau mob plab hnyuv siab raum. Hauv qhov no, ib qho kev tiv thaiv tawm tsam - ntuav.

Cov tsos mob ntawm ketonuria hauv cov menyuam yaus:

• lus yws ntawm kev mob plab
• kev tsis txaus siab mob taub hau
• tus me nyuam yuav nkees, nkees,
• lus tsis txaus siab ntawm xeev siab
• ntuav
• tsa qhov kub rau 39 ° C,
• tsis kam ntawm khoom noj
• muaj ntxhiab tsw zoo li acetone
• mob siab

Puas kuaj tau ketonuria?

Tsuas yog kev tshuaj lom neeg tshuaj xyuas tuaj yeem tshawb pom qhov nce hauv qib ntawm ketone lub cev hauv lub cev. Lub chaw kuaj mob yuav tsim txoj cai tam sim ntawd ketone lub cev uas muaj nyob hauv.

Hauv cov tshuaj niaj hnub, ketonuria raug kuaj pom:

• Lange xeem,
• Kev xeem raws cai
• Qauv Lestrade,
• hloov qauv ntawm Rothera,
• cov ntawv xeem ceev ceev

Kev ntsuam xyuas sai, ntawm chav kawm, yog qhov ntau tshaj. Lawv qhov kev txiav txim yog xyuas los ntawm cov tshuaj lom neeg, qhov tshwm sim ntawm uas tau pom yuav luag tam sim ntawd. Ib qho tsuas yog muab tso rau hauv txoj kab ntsuas hauv lub tso zis lossis tso nws rau ntawm cov ntsiav tshuaj sim. Thaum muaj kev tawm tsam zoo, qhov kev ntsuam xyuas tau hloov xim. Lub ci ci ntawm cov xim tso cai rau koj los txiav txim los ntawm cov xim tshwj xeeb ntsuas txog ntau npaum li cas cov cai ntawm ketone lub cev tau dhau los.

Thoob Ntiaj Teb Cov Kab Mob

Kev Ntsuas Xyuas Cov Neeg Thoob Ntiaj Teb ntawm Kab Mob thiab Cov Teeb Meem Kev Noj Qab Nyob Zoo (ICD) yog cov lus qhia siv los ntawm cov ntaub ntawv uas tuaj yeem sib piv thoob ntiaj teb. Nrog nws cov kev pab, ntau txoj kev rau kev suav daws yog kev sib koom ua ke. Cov kab mob ntawm tus kabmob raug muab khaws cia thiab cais. Txhua txhua kaum xyoo, IBC tau tshuaj xyuas los ntawm lub luag haujlwm ntawm Lub Koom Haum Ntiaj Teb Kev Noj Qab Haus Huv. Txhawm rau txheeb cais thiab txheeb xyuas tag nrho cov txiaj ntsig ntawm cov txiaj ntsig tau los ntawm qhov pom ntawm cov cais, nws tau muab txhais ua alphanumeric cov lis dej num. Hauv kev ua haujlwm zoo li no, tsim ICD yog siv. Niaj hnub no nws sib raug rau ICD-10. Nws muaj 22 chav kawm (ntu).

Raws li cov ntawv qhia ICD, ketonuria muaj qhov chaws R82.4.

Ketonuria Kev Tiv Thaiv thiab Kev Noj Kev Haus

Txog kev tiv thaiv ketonuria, nws yog qhov tsim nyog:

• noj haus zoo
• ua lub neej noj qab nyob zoo:

- ntau li ntau tau nyob hauv huab cua ntshiab,

- Qoj ib ce muaj zog

- Tsis txhob pib mob cov kab mob mus ntev.

Hauv ib qho mob ntev xws li mob ntshav qab zib, kws kho mob tawm tswv yim zoo. Qee lub sij hawm, nws yog ib qhov tsim nyog yuav tau coj los piav qhia.

Qhov tshwm sim zoo qhia tau tias pathology hauv lub cev. Ua tib zoo mloog ntawm lub teeb liab! Kev thov rov mus rau tom tsev kho mob sai sai yuav ua rau lub cev rov qab zoo li qub. Tsis tas tawm ntawm cov pluas noj uas kws kho mob sau tseg, koj tuaj yeem kho kom rov zoo tuaj.

Ketonuria qauv noj haus:

• tsis txhob noj zaub mov uas muaj protein thiab roj ntau,
• kev noj haus tas li
• haus dej ntau thiab dej qab zib daws teeb meem (nrog ntshav qab zib - insulin).

Cov zaub mov yuav tsum muaj: hau nqaij nyuj thiab luav, ntau yam zaub kua zaub, muaj cov rog rog tsawg. Cov khoom ua siv muaj txiaj ntsig yam tsis muaj butter, zaub thiab txiv hmab txiv ntoo. Nws raug nquahu kom haus dej ntau, kua txiv hmab txiv ntoo, hauv compotes.

Tsis suav los ntawm ntawv qhia zaub mov:

• cov rog ua haujlwm
• ntsim tsiaj
• qab zib
• txiv qaub
• tsawb
• nceb
• cov khoom noj ceev.

Tsom ntsoov rau kev kho mob

Ketonuria yuav tsum tsis txhob kho ua ib tus kab mob cais. Nws tsuas yog kev rau txim xwb. Nws yog ib qho tsim nyog yuav tau tshem tawm cov laj thawj uas ua rau nws. Ua ntej tshaj, yuav tsum tau kuaj tag nrho. Qhov tseeb ntawm kev kuaj mob thiab kev tsim ua kom muaj ketonuria tuaj yeem lav kho tau zoo.

Cov kws kho mob muab qee cov lus qhia:

• Yog tias koj rog dhau, koj yuav tsum npaj lub sijhawm yoo mov ib hnub dhau ib zaug.
• Yog tias qhov kev txheeb xyuas tau pom tias nce hauv cov ketones tso zis ntau lawm, yuav cov kev ntsuam xyuas los siv rau tom tsev.

• Cov zis yuav tsum ntim rau kev txheeb xyuas tsis pub dhau plaub teev ua ntej xa khoom.
• Tus menyuam tuaj yeem yuav haus cawv nrog haus dej alkaline txhua 10-15 feeb hauv qhov me me. Ua kom hluav ncaig hluav taws xob, enterosgel yuav pab ua kom lub plab zom mov.
• Nrog rau ntuav tuaj tom qab, nws yog ib qho tsim nyog los noj ib feem ntawm haus. Hu rau lub tsheb tos neeg mob.

Yuav kho ketonuria li cas, muaj cov lus qhia hauv tshuaj ntsuab.

1. Nrog kev ntuav heev, haus dej hauv dej, ua kua txiv hmab txiv ntoo qhuav, kua dej qabzib. Ib lub rooj nyob rau hauv kaum feeb.
2. Muab tso quav hauv tsev. Ua ntej, dej nyob ntawm chav sov, tom qab ntawd sov, mus rau qhov twg ib me nyuam diav ntawm dej qab zib ntxiv.
3. Haus dej: yaj 2 tbsp hauv 1 liv dej. zib ntab, nchuav kua txiv ntawm ib lub txiv qaub. Haus 1 tbsp. txhua 15 feeb.
4. Daim ntawv qhia rau cov dej qab zib tov: yaj tawm 1 me me ntawm dej qab zib hauv 250 ml dej. Haus 1 tsp. txhua 10 feeb.
5. Noj decoctions ntawm soothing tshuaj ntsuab.
6. Txhawm rau kom tshem tawm cov co toxins tawm ntawm lub cev, noj me ntsis los ntawm. Nws yog qhov zoo dua rau noj tsuas yog keej.

Kev kho yog nyob ntawm tus neeg tus yam ntxwv ntawm lub cev. Nws yuav tsum raug tswj hwm nruj los ntawm tus kws kho mob tuaj koom.

76. Quav roj. Txoj kev nkag, siv thiab tawm ntawm lub cev. Ntshav cov roj. Cholesterol biosynthesis, nws cov theem. Kev cai ntawm synthesis.

Cov roj (cholesterol) yog cov tshuaj steroid tshwj xeeb rau cov tsiaj muaj sia. Nws yog synthesized nyob rau hauv ntau cov tib neeg cov ntaub so ntswg, tab sis qhov chaw loj ntawm synthesis yog daim siab. Hauv lub siab, ntau dua 50% ntawm cov roj cholesterol yog sib dhos, hauv txoj hnyuv - 15-20%, cov roj uas seem yog muab cov kua hluavtaws ua kom tawv nqaij, adrenal cortex, thiab gonads. Li ntawm 1 g ntawm cov roj (cholesterol) yog muab tso ua ke ib hnub hauv lub cev, 300-500 mg yog noj nrog zaub mov (Daim duab 8-65). Cov roj (cholesterol) ua ntau txoj haujlwm: nws yog ib feem ntawm tag nrho cov cell thiab cuam tshuam rau lawv lub zog, ua haujlwm ua cov pib hauv kev coj los ua ke ntawm cov kua tsib kua qaub thiab cov tshuaj hormones steroid. Cov tswvcuab hauv cov txheej txheem metabolic ntawm cov roj (synthesis) tseem hloov mus rau ubiquinone, uas yog cov pa ntawm cov pa ua pa thiab dolichol, uas koom nrog hauv cov synthesis ntawm glycoproteins. Vim nws cov pab pawg hydroxyl, cov roj (cholesterol) tuaj yeem tsim cov esters nrog cov roj ntsha. Etherified cov roj cholesterol ua kom txaus ntseeg nyob rau hauv cov ntshav thiab khaws cia hauv cov ntshav me me hauv qee hom hlwb uas siv nws ua cov txheej txheem rau cov synthesis ntawm lwm cov tshuaj. Cov roj (cholesterol) thiab nws cov esters yog hydrophobic lwg me me, yog li lawv thauj los ntawm ntshav tsuas yog ua ib feem ntawm ntau hom tshuaj sib txawv. Kev sib pauv pauv hauv cov roj (cholesterol) yog ib qho nyuaj heev - tsuas yog rau nws cov kev sib txuas, txog 100 qhov sib txuas ua ke yog qhov tsim nyog. Hauv tag nrho, txog 300 cov protein sib txawv koom nrog hauv cov roj (metabolism metabolism). Kev tsis sib haum ntawm cov roj metabolism ua rau ib qho ntawm cov kabmob uas muaj kabmob tshaj plaws - atherosclerosis. Kev tuag ntawm cov kev mob tshwm sim ntawm atherosclerosis (myocardial infarction, mob stroke) ua rau cov qauv hauv lub neej no. Atherosclerosis yog "tus kabmob polygenic", i.e. ntau ntau yam koom nrog hauv nws txoj kev txhim kho, qhov tseem ceeb tshaj plaws ntawm cov muaj keeb. Kev txuam nrog cov roj (cholesterol) hauv lub cev ua rau txoj kev loj hlob ntawm lwm qhov muaj feem - mob gallstone.

A. Cov tshuaj los ntawm cov roj (cholesterol) thiab nws cov kev cai

Kev hloov ua haujlwm cov roj (cholesterol) ua rau muaj qhov tshwm sim hauv cytosol ntawm cov hlwb. Qhov no yog ib qho ntawm cov kev coj noj coj ua ntev tshaj plaws hauv tib neeg lub cev.

Phenylketonuria

Phenylketonuria - ib qhov kev ua txhaum los ntawm cov amino acid metabolism vim tsis muaj daim siab enzymes muab kev koom tes hauv cov metabolism hauv phenylalanine rau tyrosine. Cov tsos mob thaum ntxov ntawm phenylketonuria yog ntuav, qaug zog lossis ua hyperactivity, tsis hnov ​​tsw ntawm pwm los ntawm zis thiab tawv nqaij, ncua kev txhim kho psychomotor, cov kev qhia qeeb dhau los muaj xws li oligophrenia, lub cev kev loj hlob qeeb, pov tseg, eczematous hloov pauv tawv nqaij, thiab lwm yam. tom qab kuaj mob suav nrog kev sim cov tshuaj molecular, kev txiav txim siab ntawm ntshav phenylalanine concentration, zis tsom biochemical, EEG, thiab MRI ntawm lub paj hlwb. Kev kho ntawm phenylketonuria yog ua raws li kev noj zaub mov tshwj xeeb.

Cov ntaub ntawv dav dav

Phenylketonuria (Felling's disease, phenylpyruvic oligophrenia) yog cov kab mob ua tsis taus haujlwm, caj ces txiav txim siab los ntawm kev ua kom tsis muaj zog hydroxylation ntawm phenylalanine, kev sib txuam ntawm cov amino acids thiab nws cov metabolites hauv lub nruab nrog cev thiab cov nqaij mos, tom qab ntawd ua rau muaj kev puas tsuaj loj rau hauv nruab nrab lub paj hlwb. Phenylketonuria tau xub piav los ntawm A. Felling hauv xyoo 1934; nws tshwm sim nrog cov zaus ntawm 1 rooj plaub ntawm 10,000 tus menyuam yug tshiab. Hauv lub sijhawm neonatal, phenylketonuria tsis muaj kev kuaj mob hauv lub cev, txawm li cas los xij, kev noj cov phenylalanine nrog zaub mov ua rau muaj qhov tsos mob ntawm tus kabmob hauv thawj ib nrab ntawm lub neej, thiab tom qab ntawd ua rau muaj kev loj hlob loj ntawm cov menyuam. Tias yog vim li cas qhov kev kuaj pom ua ntej ntawm phenylketonuria hauv cov menyuam yug tshiab yog cov haujlwm tseem ceeb tshaj plaws ntawm neonatology, tsiaj txhu thiab noob caj noob ces.

Cov Ua Phenylketonuria

Phenylketonuria yog ib qho kev rov ua qub txeeg qub teg autosomal tsis zoo. Qhov no txhais tau hais tias rau kev txhim kho kev soj ntsuam kev kho mob ntawm phenylketonuria, tus me nyuam yuav tsum tau txais ib daim ntawv theej ntawm cov gene los ntawm leej niam thiab leej txiv, uas yog cov xeeb ntxwv muaj cov kab mob sib txuas ntawm cov noob qes.

Feem ntau, kev loj hlob ntawm phenylketonuria yog tshwm sim los ntawm kev hloov pauv hauv cov gene encoding phenylalanine-4-hydroxylase enzyme nyob ntawm caj npab ntev ntawm chromosome 12 (locus 12q22-q24.1). Qhov no thiaj li hu ua classical hom I phenylketonuria, suav txog 98% ntawm txhua tus neeg ntawm tus mob. Hyperphenylalaninemia tuaj yeem ncav cuag 30 mg% thiab siab dua. Yog tias tsis kho, hom phenylketonuria no txawv nrog kev ploj kev tuag.

Ntxiv nrog rau daim ntawv classical, atypical phenylketonuria yog qhov txawv txav, ua raws tib cov tsos mob hauv tsev kho mob, tab sis tsis zoo rau kev kho los ntawm kev kho kev noj haus. Cov no suav nrog phenylketonuria hom II (dehydroterterin reductase deficiency), phenylketonuria hom III (tetrahydrobiopterin deficiency) thiab lwm yam, ntau yam tsis tshua muaj.

Qhov tshwm sim ntawm kev yug menyuam nrog phenylketonuria nce nrog kev sib yuav.

Pathogenesis ntawm phenylketonuria

Daim foos ntawm phenylketonuria ua raws li kev tsis txaus ntawm phenylalanine-4-hydroxylase enzyme koom nrog kev hloov pauv ntawm phenylalanine rau tyrosine hauv hepatocyte mitochondria. Nyob rau hauv lem, tyrosine derivative tyramine yog qhov pib cov khoom siv rau cov khoom sib txuas ntawm catecholamines (adrenaline thiab norepinephrine), thiab diiodotyrosine rau kev tsim cov thyroxine. Ib qho ntxiv, kev tsim cov melanin xim yog qhov tshwm sim ntawm phenylalanine metabolism.

Cov kab mob tsis haum xeeb ntawm phenylalayin-4-hydroxylase enzyme hauv phenylketonuria ua rau kev ua txhaum ntawm oxidation ntawm phenylalanine los ntawm cov khoom noj, uas ua rau nws cov concentration hauv cov ntshav (phenylalaninemia) thiab cerebrospinal kua ntau ntxiv, thiab qib tyrosine poob qis. Kev siv cov phenylalanine ntau dhau yog raug tshem tawm los ntawm kev tso zis tawm ntxiv ntawm nws cov metabolites - phenylpyruvic acid, phenylmilactic thiab phenylacetic acid.

Kev cuam tshuam ntawm cov amino acid metabolism yog nrog kev ua kom tsis muaj zog myelination ntawm cov hlab ntaws, txo qis ntawm kev tsim cov neurotransmitters (dopamine, serotonin, thiab lwm yam), uas ua rau muaj kab mob pathogenetic ntawm lub hlwb ruamqauj thiab kev vam meej dementia.

Cov tsos mob ntawm phenylketonuria

Cov menyuam mos yug tshiab uas muaj phenylketonuria tsis muaj kev kuaj mob ntawm tus kabmob. Feem ntau, qhov tshwm sim ntawm phenylketonuria hauv cov menyuam yaus tshwm sim thaum muaj hnub nyoog 2-6 hlis. Nrog rau thaum pib ntawm kev pub mis, cov protein ntawm cov kua mis lossis nws hloov pauv pib nkag mus rau tus menyuam lub cev, uas ua rau kev txhim kho ntawm thawj zaug, tsis muaj cov tsos mob tshwj xeeb - qaug zog, qee zaum ntxhov siab thiab hyper excitability, regurgitation, mob leeg, mob hlwb syndrome. Ib qho ntawm cov kab mob pathognomonic thaum ntxov ntawm phenylketonuria yog ntuav tsis tu ncua, uas feem ntau ua rau pom tseeb tias yog qhov tseeb ntawm pyloric stenosis.

Los txog rau lub sijhawm ib nrab ntawm lub xyoo, tus menyuam poob qis hauv psychomotor txoj kev txhim kho tau pom muaj. Tus me nyuam ua tsis tshua muaj siab tawv, muaj kev tsis taus, tsis nco qab tus neeg hlub, tsis txhob sim zaum thiab sawv ntawm nws ko taw. Qhov txawv txav ntawm cov zis thiab tawm hws ua rau tus yam ntxwv "nas" tsw (tsis hnov ​​tsw ntawm pwm) tuaj ntawm lub cev. Feem ntau muaj tev ntawm daim tawv nqaij, dermatitis, eczema, scleroderma.

Hauv cov menyuam yaus muaj phenylketonuria uas tsis tau txais kev kho mob, microcephaly, prognathia, tom qab (tom qab 1.5 xyoo) teething, enamel hypoplasia raug kuaj pom. Kev ncua sij hawm hauv kev hais lus tau sau tseg, thiab los ntawm 3-4 xyoo tob tob oligophrenia (idiocy) thiab yuav luag tiav kev hais lus tau pom.

Cov menyuam yaus uas muaj phenylketonuria muaj lub cev tsis ua haujlwm, ntau lub plawv tsis zoo los ntawm lub siab, ua kom lub cev tsis ua haujlwm (tawm hws, acrocyanosis, mob ntshav ncig), thiab raug mob los ntawm cem quav. Phenotypic cov yam ntxwv ntawm cov menyuam yaus raug kev puas tsuaj los ntawm phenylketonuria suav nrog lub teeb tawv nqaij, qhov muag thiab plaub hau. Tus menyuam muaj phenylketonuria yog tus cwj pwm tshwj xeeb ntawm tus "kws txiav caj dab" (sab caj npab thiab sab hauv qab los khoov rau ntawm cov pob qij txha), tes tshee tshee, ib txoj hlab ntaws, mincing gait, thiab hyperkinesis.

Cov kev mob tshwm sim ntawm cov hom II phenylketonuria yog tus cwj pwm mob hlwb qeeb qeeb, ntxiv kev txob taus, qaug dab peg, mob leeg tetraparesis, thiab leeg mob hyperreflexia. Qhov hloov zuj zus ntawm tus kabmob tuaj yeem ua rau tus menyuam tuag 2 lossis 3 xyoos.

Thaum phenylketonuri hom III txhim kho triad ntawm cov cim: microcephaly, oligophrenia, spastic tetraparesis.

Kev kuaj mob ntawm phenylketonuria

Tam sim no, kev kuaj mob ntawm phenylketonuria (nrog rau galactosemia, mob ntshav qab zib ntawm lub ntsws, mob adrenogenital syndrome thiab cystic fibrosis) yog ib feem ntawm kev kuaj mob neonatal rau txhua tus menyuam yug tshiab.

Kev ntsuam xyuas yog ua tiav ntawm 3-5 hnub ntawm lub neej ntawm ib hnub thiab 7 hnub ntawm lub neej ntawm cov menyuam yaus ua ntej yug los ntawm kev kuaj ntshav ntawm capillary rau ntawm daim ntawv tshwj xeeb. Yog tias kuaj pom hyperphenylalanemia, muaj ntau tshaj li 2.2 mg% ntawm tus menyuam raug xa mus rau kev kuaj mob rau cov tsiaj txhu hauv lub cev rau kev rov kuaj mob.

Txhawm rau kom paub tseeb tias kev kuaj mob phenylketonuria, kev saib xyuas cov phenylalanine thiab tyrosine hauv cov ntshav tau tshawb xyuas, qhov kev ua haujlwm ntawm hepatic enzymes (phenylalanine hydroxylase) yog txiav txim siab, kev kuaj biochemical tso zis (kev txiav txim siab ketonic acids), metabolites ntawm catecholamines nyob rau hauv cov zis, thiab lwm yam yog ua tiav.

Kev tshawb nrhiav caj ces hauv phenylketonuria tuaj yeem kuaj pom txawm tias lub sijhawm cev xeeb tub thaum lub sijhawm kuaj mob tsis tseem ceeb ntawm me nyuam hauv plab (chorionbiopsy, amniocentesis, cordocentesis).

Kev kuaj mob sib txawv ntawm phenylketonuria yog kwv nrog kev mob plab yug me nyuam hauv cov menyuam tshiab, kev kis mob rau cov ntshav, thiab lwm yam kev mob ntawm cov amino acids.

Kev Kho Mob Phenylketonuria

Lub hauv paus tseem ceeb hauv kev kho phenylketonuria yog kev noj haus uas txwv tsis pub kom muaj protein ntau hauv lub cev. Kev kho mob raug pom zoo kom pib ntawm phenylalanine concentration> 6 mg%. Cov khoom sib xyaw tshwj xeeb tau tsim rau cov menyuam mos-Afenilak, Lofenilak, rau cov menyuam muaj hnub nyoog tshaj 1 xyoos - Tetrafen, Phenyl-dawb, ntau dua 8 xyoo - Maxamum-XP thiab lwm yam. Lub hauv paus ntawm kev noj zaub mov yog cov zaub mov muaj protein tsawg - txiv hmab txiv ntoo, zaub, kua txiv, protein hydrolysates thiab amino acid sib tov. Cov. Kev nthuav dav ntawm kev noj haus muaj peev xwm ua tau tom qab 18 xyoo nyob rau hauv kev sib txuas nrog kev nce ntxiv hauv kam rau ua rau phenylalanine. Raws li txoj cai lij choj hauv Lavxias, kev muab khoom noj khoom haus kho mob rau cov neeg raug kev txom nyem los ntawm phenylketonuria yuav tsum pub dawb.

Cov neeg mob tau sau tshuaj kom tsawg ntawm cov tshuaj sib txuas, vitamins ntawm pab pawg B, thiab lwm yam, raws li kev taw qhia - cov tshuaj nootropic, tshuaj anticonvulsants. Hauv txoj kev kho nyuaj ntawm phenylketonuria, kev zaws zaws, kev tawm dag zog, thiab acupuncture yog siv dav.

Cov menyuam yaus raug kev txom nyem los ntawm phenylketonuria nyob hauv kev saib xyuas ntawm ib tus kws kho mob hauv nroog thiab neuropsychiatrist, thiab feem ntau xav tau kev pab ntawm tus kws kho hais lus thiab tus kws kho. Kev saib xyuas zoo ntawm cov xwm txheej neuropsychic ntawm cov menyuam yaus, kev saib xyuas ntawm theem ntawm phenylalanine hauv cov ntshav thiab electroencephalogram ntsuas yog qhov tsim nyog.

Atypical cov ntaub ntawv ntawm phenylketonuria uas tsis yog cov khoom noj zoo rau kev noj zaub mov noj yuav tsum tau teem sijhawm kho mob hepatoprotectors, anticonvulsants, hloov kho nrog levodopa, 5-hydroxytryptophan.

Kev kwv yees thiab kev tiv thaiv phenylketonuria

Ua qhov kev ntsuam xyuas loj rau phenylketonuria hauv lub sijhawm neonatal tso cai rau koj los npaj kev noj zaub mov thaum ntxov thiab tiv thaiv kev puas tsuaj rau mob hlwb ntau, ua rau lub siab ua haujlwm tsis zoo. Nrog rau kev teem sijhawm ntxov ntawm kev tshem tawm kev noj haus rau cov kab mob phenylketonuria, qhov tshwm sim rau kev loj hlob ntawm cov menyuam yaus yog qhov zoo. Nrog kev kho thaum lig, kev hais kwv txhiaj rau txoj kev loj hlob tsis zoo.

Kev tiv thaiv kev cuam tshuam ntawm phenylketonuria muaj nyob rau hauv kev kuaj mob ntau ntawm cov me nyuam yug tshiab, kev muab tshuaj thaum ntxov thiab ua raws li cov khoom noj khoom haus ntev ntev.

Txhawm rau ntsuas qhov kev pheej hmoo ntawm kev yug menyuam nrog phenylketonuria, kev qhia tswv yim caj yuav tsum tau muab rau cov khub niam txiv uas twb muaj menyuam muaj mob, nyob hauv qhov tsis sib raug zoo, thiab muaj cov txheeb ze nrog tus kabmob no. Cov poj niam muaj phenylketonuria uas tab tom npaj lub cev xeeb tub yuav tsum ua raws li kev noj zaub mov nruj ua ntej xeeb tub thiab thaum cev xeeb tub kom tsis suav nrog kev nce qib ntawm phenylalanine thiab nws cov metabolites thiab cuam tshuam ntawm kev loj hlob ntawm cov me nyuam hauv plab tsis muaj mob. Txoj kev pheej hmoo ntawm kev muaj menyuam yaus nrog phenylketonuria hauv cov niam txiv nqa lub cev tsis zoo yog 1: 4.