Koj puas paub txog tus kab mob caj ces tsis tshua muaj hu ua Homocystinuria (HCU)? Cia peb tham txog nws!

Niaj hnub no peb yuav tham txog ib yam mob uas peb tsis tau hnov ​​​​dua li, tab sis nws yog ib qho tseem ceeb heev rau txhua tus kom paub txog. Qhov no hu ua Homocystinuria, lossis luv luv '(HCU)'. Qee zaum, thaum qee cov txheej txheem tshuaj lom neeg uas tshwm sim hauv peb lub cev tsis mus zoo, cov teeb meem tsis tau xav txog tuaj yeem tshwm sim. Qhov no yog ib qho mob zoo li no hu ua '(HCU)'. Tsis txhob ntshai, cia peb tham txog qhov no yooj yim.

Homocystinuria (HCU) yog dab tsi?

Hais yooj yim xwb, '(HCU)' yog ib yam kab mob caj ces uas tsis tshua muaj . Qhov uas tshwm sim hauv qhov no yog tias peb lub cev tsis tuaj yeem tswj tau cov amino acid '(Homocysteine)' kom zoo, uas yog, nws tsis tuaj yeem siv thiab tshem tawm nws. Xav txog, yuav ua li cas yog tias cov khoom tsis muaj txiaj ntsig sib sau ua ke hauv peb lub cev? Ib yam li ntawd, '(Homocysteine)' no sib sau ua ke tsis tsim nyog hauv cov ntshav thiab zis. Qhov kev sib sau ua ke no tuaj yeem ua rau muaj teeb meem loj hauv qhov muag, lub cev pob txha (peb lub cev pob txha), lub paj hlwb hauv nruab nrab (lub hlwb thiab tus txha caj qaum), thiab lub cev hlab ntsha (cov hlab ntsha). Tam sim no koj muaj ib lo lus nug , cov amino acids no yog dab tsi? Cov amino acids yog cov khoom siv tseem ceeb ntawm cov protein. Ib yam li cov cib uas xav tau los tsim lub tsev, cov amino acids yog qhov xav tau los tsim cov protein hauv peb lub cev. Peb lub cev ua ib feem ntawm '(Homocysteine)' no los ntawm lwm cov amino acid hu ua '(Methionine)'. Tsis tas li ntawd, los ntawm cov khoom noj muaj protein ntau uas peb noj, piv txwv li, nqaij, ntses, thiab qe, peb tau txais ntau '(Methionine)'. Feem ntau, peb lub cev zom cov '(Methionine)' no thiab hloov nws mus ua '(Homocysteine)'. Txawm li cas los xij, hauv lub cev ntawm ib tus neeg uas muaj '(Homocystinuria), ib qho enzyme uas xav tau los tswj qhov '(Homocysteine)' no kom zoo, uas yog, kom nws nyob rau theem uas xav tau thiab hloov qhov seem, ploj lawm, lossis nws tsis ua haujlwm kom zoo. Ib qho enzyme yog ib hom protein uas ua kom cov tshuaj lom neeg hauv peb lub cev sai dua. Yog li thaum cov enzyme no ploj lawm, qib ntawm '(Homocysteine)' nce ntxiv.

Cov hom mob homocystinuria tseem ceeb yog dab tsi?

Cov kws tshawb fawb tau faib homocystinuria ua ntau hom raws li cov laj thawj caj ces. Muaj ob hom tseem ceeb:

1. Tsis muaj Cystathionine beta-synthase (CBS) txaus (Classical Homocystinuria)

Qhov no yog hom homocystinuria uas feem ntau pom . Cystathionine beta-synthase (CBS) yog ib qho enzyme uas pab hloov homocysteine ​​​​​​mus rau lwm cov amino acid, cysteine. Hom kab mob no tshwm sim thaum lub CBS gene tsim cov enzyme CBS tsawg dhau lossis tsis muaj, lossis thaum lub CBS enzyme tsis ua haujlwm zoo. Lub CBS enzyme xav tau vitamin B6, tseem hu ua pyridoxine, kom ua haujlwm zoo. Hom no raug faib ntxiv raws li koj teb zoo li cas rau cov tshuaj vitamin B6.

2. Kev puas tsuaj ntawm Cobalamin (cbl) metabolism

Peb lub cev xav tau hloov qee yam ntawm homocysteine ​​​​rov qab mus rau hauv methionine. Cov txheej txheem no suav nrog vitamin B12, tseem hu ua cobalamin. Peb lub cev mus dhau ntau kauj ruam los hloov homocysteine ​​​​rov qab mus rau hauv methionine. Homocystinuria, uas yog tshwm sim los ntawm qhov tsis txaus hauv cobalamin, tshwm sim thaum lub cev tsis tuaj yeem ua tiav kauj ruam no, tsis ua cov enzyme kom raug, lossis tsim cov enzymes tsis zoo.

Qhov txawv ntawm homocystinuria thiab Marfan syndrome yog dab tsi?

Marfan syndrome yog ib qho mob caj ces tsis tshua muaj uas cuam tshuam rau cov nqaij sib txuas thoob plaws lub cev. Ntau cov tsos mob ntawm tus kab mob no zoo ib yam li cov tsos mob ntawm homocystinuria. Piv txwv li, ceg ntev, ntiv tes ntev, nyias, ectopia lentis, thiab myopia. Txawm li cas los xij, Marfan syndrome yog tshwm sim los ntawm kev hloov pauv hauv Fibrillin-1 (FBN1) gene. Cov neeg uas muaj Marfan syndrome muaj cov homocysteine ​​​​thiab methionine ib txwm muaj.

Leej twg raug tus mob no ntau tshaj? Nws tshwm sim ntau npaum li cas?

Homocystinuria yog tshwm sim los ntawm kev hloov pauv caj ces. Yog li txhua tus neeg tuaj yeem muaj nws. Txawm li cas los xij, qee qhov kev tshawb fawb tau qhia tias qhov mob no cuam tshuam rau cov neeg hauv qee lub tebchaws ntau dua li lwm tus. Cov tebchaws no yog:

• Ireland
• Tebchaws Norway
• Lub teb chaws Yelemees
• Qatar

Homocystinuria yog ib yam kab mob uas tsis tshua muaj los ntawm noob caj noob ces . Hom kab mob no feem ntau tshwm sim rau ib tus neeg ntawm 200,000 thiab ib tus neeg ntawm 335,000 tus neeg thoob ntiaj teb. Qhov ntawd tsis tshua muaj.

Cov tsos mob ntawm homocystinuria yog dab tsi?

Cov tsos mob ntawm '(Homocystinuria)' sib txawv nyob ntawm hom koj muaj. Feem ntau lawv pib tshwm sim hauv ob peb xyoos thawj zaug ntawm lub neej. Txawm li cas los xij, qee tus neeg yuav tsis muaj tsos mob txog thaum laus. Hom '(Homocystinuria)' feem ntau cuam tshuam rau cov kab mob no:

• Qhov muag
• Cov pob txha caj qaum
• Lub paj hlwb nruab nrab
• Cov hlab ntsha hauv lub cev

Cov tsos mob ntawm '(Homocystinuria)' muaj xws li:

Cov tsos mob cuam tshuam rau lub qhov muag:

• Lub lens ntawm lub qhov muag txav tawm ntawm nws qhov chaw ib txwm (ectopia lentis). Qhov no tuaj yeem ua rau pom kev tsis meej .
• Kev pom kev tsis zoo (myopia) hnyav heev , uas txhais tau tias pom tsis deb.

Cov tsos mob cuam tshuam rau lub cev pob txha:

• Qhia txog kev loj hlob ntau dhau .
• Kev ntev ntawm caj npab, ceg, thiab ntiv tes tsis zoo li qub.
• Cov hauv caug khoov rau sab hauv thiab cov hauv caug sib tsoo ua ke thaum ob txhais ceg ncaj (qhov no kuj hu ua "knock knocks").
• Lub hauv siab poob rau hauv los yog tawm mus rau pem hauv ntej.
• Kev nkhaus ntawm tus txha nqaj qaum (scoliosis).
• Cov neeg uas muaj homocystinuria kuj muaj feem yuav mob pob txha .

Cov tsos mob cuam tshuam rau lub paj hlwb hauv nruab nrab:

• Kev loj hlob qeeb . Qhov no txhais tau tias tsis qhia txog kev loj hlob ntawm lub hlwb lossis lub cev uas tsim nyog rau lub hnub nyoog.
• Kev kawm nyuaj.

Cov tsos mob cuam tshuam rau lub plawv thiab cov hlab ntsha:

• Muaj feem yuav ntshav txhaws ntau ntxiv. Cov ntshav txhaws no tuaj yeem ua rau muaj mob txaus ntshai xws li mob stroke lossis mob pulmonary embolism.

Cov ua rau muaj homocystinuria yog dab tsi?

Ntau hom homocystinuria yog tshwm sim los ntawm kev hloov pauv caj ces, lossis kev hloov pauv, hauv ntau hom noob.

Cov ua rau muaj noob caj noob ces

Hom `(Homocystinuria)` uas feem ntau tshwm sim yog los ntawm kev hloov pauv hauv `(CBS)` gene. Cov `(CBS)` gene no qhia peb lub cev yuav ua li cas los tsim ib qho enzyme hu ua `(Cystathionine beta-synthase)`. Cov enzyme no yog lub luag haujlwm rau txoj kev tshuaj uas hloov `(Homocysteine)` acid mus rau `(Methionine)`. `(Homocystinuria)` kuj tseem tuaj yeem tshwm sim los ntawm kev hloov pauv hauv cov genes `(MTHFR)`, `(MTR)`, `(MTRR)` thiab `(MMADHC)`. Tag nrho cov genes no yog lub luag haujlwm rau kev hloov `(Homocysteine)` acid mus rau `(Methionine). Yog tias ib qho ntawm cov genes no muaj kev hloov pauv, cov enzyme cuam tshuam tsis ua haujlwm zoo. Tom qab ntawd `(Homocysteine)` pib sib sau ua ke hauv lub cev. Txawm li cas los xij, cov kws tshawb fawb tseem tsis tau paub meej tias vim li cas cov homocysteine ​​​​ntau ua rau muaj cov tsos mob ntawm homocystinuria. Koj tau txais homocystinuria hauv tus qauv autosomal recessive. Qhov no txhais tau tias koj tsuas yog yuav tau txais tus kab mob no yog tias koj niam koj txiv ob leeg, uas feem ntau tsis muaj tsos mob, xa cov noob caj noob ces uas cuam tshuam rau koj.

Puas yog homocystinuria tshwm sim los ntawm qhov tsis txaus vitamin?

Yog, homocystinuria kuj tseem tuaj yeem tshwm sim vim yog cov laj thawj tsis yog los ntawm noob caj noob ces. Qhov mob no kuj tseem tuaj yeem tshwm sim los ntawm qhov tsis txaus vitamin B6, vitamin B9 (folate), lossis vitamin B12 (cobalamin) hnyav .

Yuav kuaj mob homocystinuria li cas?

Hauv cov teb chaws zoo li Tebchaws Meskas, kev kuaj mob rau cov menyuam mos siv los kuaj mob rau ntau yam mob metabolic, suav nrog homocystinuria. Kev kuaj mob homocysteine ​​ntsuas cov homocysteine ​​thiab methionine hauv koj tus menyuam cov ntshav. Yog tias cov txiaj ntsig ntawm kev kuaj mob zoo, qhia tias qhov mob yuav muaj, koj tus menyuam tus kws kho mob yuav xaj kev kuaj ntxiv kom paub meej cov txiaj ntsig. Txawm li cas los xij, cov kev kuaj mob rau cov menyuam mos no tsis yog qhov tseeb 100%. Qee zaum lawv yuav tsis tuaj yeem kuaj pom qee yam mob. Yog li ntawd, qee tus neeg raug kuaj pom tias muaj homocystinuria tom qab cov tsos mob tshwm sim. Txawm hais tias ntau cov tsos mob tshwm sim thaum yau lossis thaum yau, qee zaum lawv tuaj yeem tshwm sim thaum laus. Yog tias koj muaj cov tsos mob ntawm '(Homocystinuria)', koj tus kws kho mob yuav xaj '(Homocysteine ​​​​kev kuaj mob)' los lees paub qhov mob. Yog tias cov txiaj ntsig qhia tias koj muaj '(classical homocystinuria)' (uas yog, '(CBS)' tsis txaus), koj tus kws kho mob yuav xaj lwm qhov kev kuaj mob kom paub seb koj muaj hom twg. Qhov no hu ua '(vitamin B6 kev sib tw)' . Kev kuaj mob no nrhiav seb koj teb li cas rau cov tshuaj vitamin B6. Koj tus kws kho mob mam li tsim tau txoj kev kho mob uas zoo rau koj. `(Classical homocystinuria)` muaj peev xwm muab faib ua raws li nram no:

• Cov Vitamin B6 teb tau: Koj lub cev ua tau txaus cov enzyme "(CBS)", yog li vitamin B6 tuaj yeem pab cov enzyme ntawd ua haujlwm kom raug.
• Ib nrab teb rau cov vitamin B6: Koj lub cev ua qee qhov ntawm cov enzyme "(CBS)", yog li vitamin B6 yuav pab tau ib nrab.
• Vitamin B6-tsis teb: Koj lub cev tsis ua txaus ntawm cov enzyme "(CBS)", yog li vitamin B6 yuav tsis pab tau cov enzyme.

Kev kuaj noob caj noob ces tuaj yeem nrhiav tau kev hloov pauv hauv cov noob caj noob ces uas ua rau muaj homocystinuria. Txawm li cas los xij, cov kws kho mob feem ntau tsis siv cov no vim tias kev kuaj homocysteine ​​​​ib leeg tuaj yeem kuaj mob.

Cov kev kho mob rau homocystinuria yog dab tsi?

Kev kho mob rau homocystinuria suav nrog kev tswj cov qib ntawm homocysteine ​​​​hauv koj cov ntshav thiab tswj koj cov tsos mob. Kev kho mob feem ntau suav nrog kev noj cov tshuaj vitamin B6. Yog tias koj muaj hom uas teb rau vitamin B6 (classical homocystinuria), cov tshuaj vitamin B6 yuav txaus los txo thiab tswj koj cov qib homocysteine. Txawm li cas los xij, yog tias koj muaj hom uas tsis teb lossis ib nrab teb rau vitamin B6 (classical homocystinuria), cov tshuaj vitamin B6 ib leeg yuav tsis txaus. Koj yuav xav tau cov kev xaiv kho mob ntxiv. Cov no yuav suav nrog:

• Cov tshuaj '(Betaine)' (Betaine) los yog '(Cystadane): '(Betaine)' pab txo cov '( Homocysteine )' hauv koj cov ntshav.
• Kev noj zaub mov tshwj xeeb rau '(Homocystinuria): Koj yuav tsum ua raws li kev noj zaub mov uas txwv cov khoom noj uas muaj protein thiab '(Methionine)'.
• Cov tshuaj ntxiv: Yog tias koj muaj lwm hom homocystinuria, koj kuj tseem yuav tsum tau noj cov tshuaj folate ( vitamin B9 ) lossis cobalamin ( vitamin B12 ).

Qhov tseem ceeb tshaj plaws yog tias kev kho mob no yuav tsum tau ua mus tas li . Tsuas yog thaum ntawd koj thiaj li tswj tau koj cov homocysteine, txo cov teeb meem, thiab ua neej noj qab nyob zoo.

Koj yuav muaj sia nyob ntev npaum li cas nrog homocystinuria?

Yog tias kuaj pom thaum ntxov thiab kho kom zoo thoob plaws lub neej, feem ntau cov menyuam yaus uas muaj Homocystinuria tuaj yeem cia siab tias yuav muaj lub neej zoo li qub thiab noj qab nyob zoo . Yog li ntawd, kev kuaj pom thaum ntxov thiab kev kho mob txuas ntxiv mus yog qhov tseem ceeb heev.

Puas tiv thaiv tau homocystinuria?

Vim tias nws yog ib qho mob caj ces, homocystinuria tsis tuaj yeem tiv thaiv tau. Txawm li cas los xij, yog tias koj cev xeeb tub lossis npaj yuav muaj menyuam yav tom ntej, nws tsim nyog tham nrog tus kws pab tswv yim txog caj ces. Kev pab tswv yim txog caj ces tuaj yeem pab koj nkag siab txog koj qhov kev pheej hmoo ntawm kev muaj menyuam nrog homocystinuria. Nws yog ib qho ib txwm muaj kev xav tias ntxhov siab thaum koj pom tias koj lossis koj tus menyuam muaj mob caj ces. Siv sijhawm los kawm txhua yam koj ua tau txog homocystinuria. Tom qab ntawd, nrhiav tus kws kho mob uas nkag siab tag nrho koj tus mob. Kev ua haujlwm nrog tus kws tshwj xeeb txog kev zom zaub mov tuaj yeem muab kev tswj hwm rau koj. Los ntawm kev txhawb nqa koj tus kheej nrog cov ntaub ntawv thiab cov peev txheej, koj tuaj yeem ua tiav qhov tshwm sim zoo tshaj plaws.

Thaum kawg, qhov tseem ceeb tshaj plaws (Cov Lus Qhia Coj Mus Tsev)

Zoo, yog li kuv vam tias koj tam sim no nkag siab zoo dua txog yam peb tau tham txog (Homocystinuria). Nov yog qee yam tseem ceeb uas yuav tsum nco ntsoov:

• Homocystinuria (Homocystinuria) yog dab tsi?Ib yam kab mob caj ces uas tsis tshua muaj, tab sis tej zaum yuav ua rau muaj teeb meem loj.
• Qhov tshwm sim hauv qhov no yog tias lub cev tsis tuaj yeem tswj tau cov tshuaj hu ua "Homocysteine," thiab nws khaws cia rau hauv lub cev.
• Qhov no tuaj yeem ua rau muaj teeb meem nrog lub qhov muag, pob txha, lub paj hlwb, thiab cov hlab ntsha .
• Qhov tseem ceeb tshaj plaws yog kom paub txog tus kab mob thaum ntxov thiab tau txais kev kho mob kom zoo thoob plaws hauv koj lub neej . Yog tias koj ua li ntawd, koj tuaj yeem ua neej nyob li qub.
• Vitamin B6, kev noj zaub mov tshwj xeeb, thiab qee cov tshuaj yog cov kev kho mob tseem ceeb rau qhov no.
• Yog tias koj muaj lus nug ntxiv txog qhov no, lossis yog tias leej twg hauv koj tsev neeg muaj cov tsos mob no, nco ntsoov nrhiav kev pab kho mob.

Tsis txhob ntshai, txoj hauv kev zoo tshaj plaws los daws teeb meem kev kho mob yog kom paub zoo txog nws. Homocystinuria, cov kab mob caj ces, homocysteine, amino acids, vitamin B6, vitamin B12, methionine