Koj tus menyuam puas nkees tas li? Nws puas muaj cov piam thaj hauv cov ntshav qis? Qhov no yuav yog vim muaj kab mob Glycogen Storage Disease (GSD)

Koj tus me nyuam puas ib txwm nkees thiab qaug zog? Koj tus menyuam puas sawv me ntsis rau ib sab thaum lwm tus menyuam yaus uas muaj hnub nyoog zoo sib xws khiav ncig thiab ua si? Los yog koj tus menyuam puas hloov daj ntseg, hws, thiab tshee hnyo thaum noj mov? Ua ib tug niam txiv, nws yog ib qho ib txwm muaj rau koj ntshai heev thaum koj pom cov no. Txawm hais tias muaj ntau yam ua rau muaj cov tsos mob zoo li no, hnub no peb yuav tham txog ib qho mob tsis tshua muaj tab sis tseem ceeb heev uas ua rau muaj cov tsos mob zoo li no. Ntawd yog Glycogen Storage Disease, lossis (GSD) luv luv.

Hais yooj yim xwb, Glycogen Storage Disease (GSD) yog dab tsi?

Zoo, cia peb nkag siab qhov no yooj yim heev. Xav txog tias peb lub cev zoo li lub tsheb. Lub tsheb xav tau roj av kom khiav tau. Ib yam li ntawd, peb lub cev xav tau lub zog los ua txhua yam no, kom khiav, dhia, xav, thiab thov Vajtswv. Lub zog tseem ceeb hauv peb lub cev yog glucose , uas yog qab zib xwb. Peb tau txais cov glucose no los ntawm cov khoom noj carbohydrate uas peb noj, xws li mov, mov ci, thiab qos yaj ywm.

Tam sim no, thaum peb noj mov, peb lub cev tau txais ntau dua glucose dua li nws xav tau rau lub zog thaum lub sijhawm ntawd. Yog li peb lub cev ntse ua dab tsi? Nws khaws cov glucose ntxiv rau kev siv tom qab. Nws zoo li khaws lub txhab nyiaj fais fab rau ntawm peb lub xov tooj. Txoj kev khaws cov glucose no hu ua glycogen . Cov glycogen no feem ntau khaws cia rau hauv peb lub siab thiab cov leeg .

Thaum peb tsis noj mov, lossis thaum peb siv zog ntau, xws li thaum lub sijhawm ua si, peb lub cev hloov cov glycogen uas khaws cia rov qab mus ua glucose thiab siv nws ua lub zog.

Nov yog tag nrho cov txheej txheem no, uas yog, hloov cov piam thaj mus ua glycogen thiab glycogen rov qab mus ua glucose, peb lub cev xav tau ib hom protein tshwj xeeb. Peb hu lawv ua enzymes . Nws zoo li muaj cov neeg ua haujlwm ua haujlwm hauv lub hoobkas.

Kab mob Glycogen Storage Disease (GSD) yog ib qho mob uas tshwm sim thaum ib lossis ntau cov enzymes no ploj lossis tsis ua haujlwm zoo hauv peb lub cev. Qhov no txhais tau tias lub cev tsis tuaj yeem khaws glycogen kom zoo lossis siv cov glycogen uas khaws cia thaum xav tau. Qhov no tuaj yeem ua rau muaj teeb meem xws li cov ntshav qab zib qis heev (hypoglycemia) thiab cov leeg tsis muaj zog.

Muaj pes tsawg hom GSD?

Yog. Raws li peb tau tham ua ntej lawm, muaj ntau hom enzymes uas koom nrog kev ua haujlwm ntawm glycogen. Yog li, muaj ntau hom GSD nyob ntawm seb txhua yam enzymes tsis txaus. Muaj ntau tshaj 19 hom tau txheeb xyuas txog tam sim no. Txawm hais tias peb tsis paub ntau txog lawv txhua tus, peb nkag siab zoo txog qee hom tseem ceeb.

Cov hom GSD no feem ntau cuam tshuam rau lub siab lossis cov leeg.. Tiamsis qee hom kuj tuaj yeem ua rau muaj teeb meem rau lwm qhov ntawm lub cev. Cov kws kho mob hu cov hom no los ntawm lub npe ntawm cov enzyme uas koom nrog lossis tus kws tshawb fawb uas thawj zaug tshawb pom tus kab mob. Ntawm cov no, feem ntau yog GSD hom I (GSD hom I), tseem hu ua kab mob von Gierke.

Cov tsos mob tseem ceeb ntawm GSD yog dab tsi? Peb yuav paub nws li cas?

Cov tsos mob ntawm GSD yuav txawv nyob ntawm hom kab mob thiab txawm tias ntawm cov tib neeg uas muaj tib hom kab mob. Hom GSD feem ntau, hom I, feem ntau pib tshwm sim thaum tus menyuam muaj peb txog plaub lub hlis . Txawm li cas los xij, qee hom tuaj yeem tshwm sim nrog cov tsos mob tom qab, qee zaum txawm tias thaum laus.

Ob qho tsos mob tseem ceeb thiab feem ntau yog:

1. Cov ntshav qab zib qis (hypoglycemia)

2. Nkees yooj yim thaum ua si lossis ua si (tsis kam ua si)

Cia peb saib cov tsos mob no kom meej me ntsis.

Vim li cas GSD thiaj tshwm sim? Puas yog nws yog ib yam kab mob uas tau los ntawm noob caj noob ces?

Yog, GSD yog ib yam kab mob uas tau los ntawm noob caj noob ces . Qhov no txhais tau hais tias tus kab mob no yog los ntawm kev hloov pauv hauv cov noob caj noob ces uas tau los ntawm niam txiv mus rau cov menyuam.

Feem ntau cov GSDs yog tau txais los ntawm noob caj noob ces (autosomal recessive pattern). Yog hais yooj yim xwb, qhov no txhais tau tias yog ib tug me nyuam muaj tus kab mob no, ob leeg niam txiv yuav tsum tau txais cov noob caj noob ces uas hloov pauv lawm los ntawm tus kab mob no. Yog tias cov noob caj noob ces no tau txais los ntawm ib tug niam txiv xwb, tus me nyuam yuav yog tus nqa cov kab mob no thiab yuav tsis muaj tsos mob.

Txawm li cas los xij, ob peb hom mob uas tsis tshua muaj, xws li GSD hom IX, yog tau txais los ntawm noob caj noob ces hu ua X-linked inheritance . Qhov no txhais tau hais tias cov noob caj noob ces rau tus kab mob no nyob rau ntawm X chromosome. Yog tias ib tug tub hluas tau txais cov noob caj noob ces no, nws yuav muaj cov tsos mob.

Tus kws kho mob kuaj mob li cas tiag?

Vim tias GSD yog ib yam mob uas tsis tshua muaj, nws yuav siv sijhawm ntev los kuaj mob. Tus kws kho mob yuav tsum xyuas kom meej tias tsis muaj lwm yam mob uas tshwm sim ntau. Tom qab nug txog koj tus menyuam cov tsos mob thiab kuaj koj tus menyuam, tus kws kho mob feem ntau yuav pom zoo kom kuaj ntau zaus.

Cov no yuav suav nrog:

• Kev kuaj ntshav qab zib thaum noj tshais: Xyuas cov ntshav qab zib ua ntej noj tshais. Yog tias cov ntshav qab zib qis heev, nws yuav yog ib qho cim ntawm GSD.
• Kev kuaj ntshav Ketone: Thaum lub cev siv tsis tau glucose ua lub zog, nws hlawv cov rog ua lub zog. Lub sijhawm ntawd, cov tshuaj hu ua ketones raug tsim tawm. Cov theem Ketone hauv cov ntshav yuav nce siab rau cov menyuam yaus uas muaj GSD.
• Kev kuaj xyuas cov roj cholesterol hauv cov ntshav (Lipid panel) thiab cov qib uric acid: Cov qib no feem ntau nce siab rau cov menyuam yaus uas muaj GSD.
• Kev kuaj mob siab: Cov kev kuaj no pab txiav txim siab seb lub siab puas puas lawm.
• Kev kuaj ultrasound hauv plab: Qhov no pab txiav txim siab seb lub siab puas loj dua (hepatomegaly).
• Kev kuaj noob caj noob ces: Qhov no yog txoj hauv kev zoo tshaj plaws los paub tseeb tias muaj tus kab mob. Yuav muab cov ntshav coj mus kuaj seb puas muaj kev hloov pauv hauv cov noob caj noob ces uas tsim cov enzymes ntsig txog GSD.

Muaj tej lub sij hawm, kom paub tseeb 100% tias tus mob yog dab tsi, tus kws kho mob yuav pom zoo kom muab ib daim nqaij me me ntawm daim siab lossis cov leeg nqaij mus kuaj (biopsy) .

Cov kev kho mob no yog dab tsi? Puas kho tau tag nrho?

Tu siab kawg li, tseem tsis tau muaj tshuaj kho tau GSD. Tiamsis tsis txhob txhawj.Muaj cov kev kho mob zoo heev uas tuaj yeem tswj cov tsos mob thiab pab tus menyuam kom ua neej nyob li qub. Cov txheej txheem kho mob sib txawv nyob ntawm hom kab mob.

Lub hom phiaj tseem ceeb yog tiv thaiv kom cov ntshav qab zib tsis txhob poob qis heev thiab tswj kom lawv nyob ruaj khov.

Nov yog qee txoj kev kho mob:

1. Pub mis tsis tu ncua: Tshwj xeeb tshaj yog cov menyuam yaus, lawv sim ua kom lawv cov ntshav qab zib ruaj khov los ntawm kev pub rau lawv txhua ob peb teev.

2. Siv Cov Hmoov Pob Kws Tsis Tau Ua Noj: Qhov no yog ib txoj kev kho mob tseem ceeb heev uas siv rau kev tswj hwm GSD. Hmoov pob kws yog cov carbohydrate nyuaj uas peb lub cev nyuaj rau zom. Yog li ntawd, thaum me ntsis hmoov pob kws yaj rau hauv dej thiab haus, nws maj mam tso cov glucose rau hauv cov ntshav. Qhov no tuaj yeem ua rau cov ntshav qab zib ruaj khov rau ob peb teev. Txoj kev no pab tau zoo heev rau kev tiv thaiv cov ntshav qab zib qis tshwj xeeb tshaj yog thaum hmo ntuj .

3. Kho cov tsos mob ntawm hypoglycemia tam sim ntawd: Thaum cov tsos mob ntawm hypoglycemia tshwm sim, yuav tsum muab cov ntsiav tshuaj glucose lossis dej qab zib kom rov qab tau cov ntshav qab zib sai sai. Kev ncua qhov no tuaj yeem ua rau muaj cov mob hnyav xws li qaug dab peg.

4. Kev Kho Mob Rau Lwm Yam Teeb Meem: Rau cov mob xws li cov roj cholesterol ntau (hyperlipidemia) thiab cov uric acid ntau (hyperuricemia), tus kws kho mob yuav sau ntawv kom noj cov tshuaj tsim nyog (piv txwv li allopurinol, statins).

5. Kev Kho Mob Hloov Enzyme (ERT): Rau qee hom GSD, xws li tus kab mob Pompe, muaj kev kho mob uas hloov cov enzyme uas ploj lawm los ntawm kev txhaj tshuaj IV. Qhov no tseem tab tom kawm.

6. Kev Hloov Siab: Yog tias lub siab raug puas tsuaj loj heev vim yog GSD, kev hloov siab yuav tsum yog qhov kawg.

Thaum muaj tus mob no, yuav muaj teeb meem dab tsi tshwm sim?

Yog tias tus kab mob no tsis raug kuaj pom thaum ntxov thiab tswj hwm kom zoo, ntau yam teeb meem yuav tshwm sim. Cov no kuj sib txawv nyob ntawm hom kab mob. Piv txwv li, tsis tau kho GSD hom I tuaj yeem ua rau muaj teeb meem xws li:

• Cov pob txha tsis muaj zog thiab yooj yim tawg (osteoporosis)
• Kev laus qeeb
• Mob pob qij txha
• Kab mob raum
• Cov qog nqaij hlav hauv siab uas tsis yog mob qog noj ntshav (hepatic adenomas)
• Kab mob Polycystic Ovary Syndrome (PCOS)
• Cov ntshav qab zib qis ntau zaus tuaj yeem cuam tshuam rau kev ua haujlwm ntawm lub hlwb.

Tiam sis nco ntsoov, ntau yam teeb meem no tuaj yeem tiv thaiv tau los ntawm kev kuaj mob thaum ntxov, kev kho mob kom zoo, thiab kev tswj hwm.

Lub neej cia siab ntawm ib tus neeg uas muaj GSD yog dab tsi?

Qhov no nyob ntawm seb yog hom kab mob dab tsi, kuaj pom thaum twg, thiab tswj tau zoo npaum li cas. Qee hom kab mob hnyav tuaj yeem ua rau tuag taus thaum tseem yau. Tab sis feem ntau hom kab mob, yog tias kho kom zoo, yuav ua rau koj muaj sia nyob li qub. Koj tus kws kho mob yuav muab tau cov lus piav qhia zoo tshaj plaws rau koj txog koj tus menyuam tus mob.

Thaum twg peb yuav tsum mus ntsib kws kho mob?

Yog tias koj tus menyuam pheej muaj cov tsos mob ntawm cov ntshav qab zib qis uas peb tau tham ua ntej (tshee hnyo, tawm hws, ntsej muag daj ntseg), lossis yog tias koj xav tias koj tus menyuam tsis loj hlob zoo lossis muaj cov leeg tsis muaj zog, nco ntsoov mus ntsib kws kho mob menyuam yaus.

Vim tias GSD yog ib qho mob nyuaj, nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev kho mob los ntawm ib tus kws kho mob uas muaj kev paub tshwj xeeb hauv qhov no. Pab neeg kho mob ntawm koj tus menyuam yuav txhawb nqa koj txhua txoj kev uas ua tau thaum lub sijhawm no.