Koj lub cev puas tsis muaj peev xwm khaws thiab siv cov piam thaj kom zoo? Cia peb tham txog Kab Mob Glycogen Storage (GSD)!

Koj lossis koj tus menyuam puas nkees txhua lub sijhawm? Los yog koj puas qee zaum xav tias txias, hws, thiab kiv taub hau? Koj puas nkees sai sai thaum taug kev lossis ua si? Qee zaum cov no tuaj yeem yog vim muaj teeb meem me me hauv txoj kev uas peb lub cev tswj lub zog, uas yog, txoj kev uas nws siv qab zib. Hnub no peb yuav tham txog ib yam kab mob tsis tshua muaj uas txhua tus neeg tseem ceeb heev kom paub txog. Ntawd yog kab mob glycogen cia , uas kuj hu ua '(Glycogen Storage Disease)' lossis '(GSD)' luv.

Hais yooj yim xwb, lo lus "(GSD)" no txhais li cas?

Zoo, tam sim no cia peb saib seb qhov '(GSD)' no yog dab tsi. Hais yooj yim xwb, nws yog ib qho mob uas peb lub cev tsis tuaj yeem siv lossis khaws cia glycogen kom raug . Cov no yog ib hom kab mob metabolic uas tau txais los ntawm niam txiv, txhais tau tias nws tau dhau los ntawm niam txiv mus rau menyuam.

Tam sim no tej zaum koj yuav xav paub tias glycogen yog dab tsi. Glycogen yog ib txoj hauv kev rau peb lub cev khaws cov glucose, lossis qab zib, los ntawm cov khoom noj uas peb noj. Raws li koj paub, glucose yog lub roj tseem ceeb uas muab zog rau peb lub cev. Peb tau txais cov glucose no los ntawm cov khoom noj uas peb noj uas muaj cov carbohydrates. Lub cev tsis xav tau tag nrho cov glucose no ib zaug. Yog li, lub cev khaws cov glucose ntau dhau no hauv daim siab thiab cov leeg ua glycogen. Nws tuaj yeem siv tom qab thaum peb xav tau zog.

Cov txheej txheem uas peb lub cev ua glycogen los ntawm glucose hu ua glycogenesis . Ib yam li ntawd, thaum lub cev xav tau lub zog dua, cov txheej txheem uas glycogen khaws cia no raug rhuav tshem thiab ua rov qab mus ua glucose hu ua glycogenolysis . Ntau yam enzymes pab rau ob qho txheej txheem no.

Kab mob Glycogen storage disease (GSD) tshwm sim thaum ib lossis ntau cov enzymes no ploj lawm lossis tsis ua haujlwm zoo. Qhov no txhais tau tias lub cev tsis tuaj yeem siv cov glycogen uas khaws cia rau lub zog lossis tswj cov ntshav qab zib kom zoo. Qhov no tuaj yeem ua rau muaj ntau yam teeb meem, suav nrog cov ntshav qab zib qis ntau zaus (hypoglycemia) , daim siab puas tsuaj, thiab cov leeg tsis muaj zog.

Puas muaj ntau hom '(GSD)'?

Yog lawm, vim peb lub cev siv cov enzymes sib txawv los ua cov glycogen, muaj ntau hom GSD - tsawg kawg yog 19! Cov kws kho mob paub ntau txog qee hom, tab sis lawv tseem kawm txog lwm hom. GSD feem ntau cuam tshuam rau koj lub siab lossis cov leeg. Tab sis qee hom tuaj yeem ua teeb meem rau lwm qhov ntawm koj lub cev thiab.

Txhua hom GSD yog tshwm sim los ntawm qhov tsis txaus ntawm ib qho enzyme tshwj xeeb uas koom nrog kev khaws cia lossis kev rhuav tshem glycogen. Qhov no txhais tau tias cov enzyme ploj lawm lossis muaj tsawg dua. Cov kws kho mob qee zaum muab cov hom no hu ua raws li lub npe ntawm cov enzyme uas ploj lawm lossis tus kws tshawb fawb uas thawj zaug tshawb pom GSD.

Kab mob glycogen cia ntau npaum li cas?

Qhov tseeb, kab mob glycogen cia yog ib qho mob tsis tshua muaj . "(GSD)" hom I "(GSD hom I (von Gierke kab mob)"), uas yog hom mob feem ntau, tshwm sim li ib ntawm 100,000 tus menyuam yug. Yog li koj tuaj yeem pom tias qhov no tsis tshua muaj.

Cov tsos mob ntawm GSD yog dab tsi?

Cov tsos mob ntawm GSD yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Qhov no txhais tau tias txawm tias ob tus neeg uas muaj tib hom GSD kuj tuaj yeem muaj cov tsos mob sib txawv. GSD Hom I (hom feem ntau) feem ntau pib qhia cov tsos mob thaum tus menyuam muaj peb txog plaub lub hlis . Txawm li cas los xij, qee hom lwm yam yuav qhia cov tsos mob tom qab, qee zaum txawm tias thaum tseem hluas.

Ob qho tsos mob tseem ceeb uas pom hauv tus mob no yog cov ntshav qab zib qis (hypoglycemia) thiab/lossis qaug zog thaum lub sijhawm ua si, xws li khiav lossis dhia (tsis kam ua si).

Cov ntshav qab zib qis (hypoglycemia) yog thaum koj cov ntshav qab zib poob qis dua 70 mg / dL. Thaum qhov no tshwm sim, koj yuav muaj cov tsos mob xws li:

• Zoo li koj lub cev tshee hnyo.
• Tawm hws thiab hnov ​​txias.
• Kiv taub hau , zoo li tig taub hau.
• Xav tias tsis muaj zog thiab tsis muaj sia nyob.
• Lub plawv dhia tsis xwm yeem.
• Qee zaum, kev tshaib plab tsis tuaj yeem ua tau, thiab qee tus neeg hu qhov no "hyperphagia".
• Muaj teeb meem xav txog, tsis muaj peev xwm tsom ntsoov.
• Xav ntxhov siab thiab npau taws.
• Daim tawv nqaij daj ntseg (pallor).
• Qee zaum, yog tias cov ntshav qab zib poob qis dhau , qaug dab peg tuaj yeem tshwm sim.

Xav txog seb yog koj tus me nyuam ua si zoo thiab mam li pib tshee hnyo, tawm hws, thiab tsis hais lus tau? Koj yuav ntshai npaum li cas thaum ntawd? Qhov ntawd yog qhov hypoglycemia .

Ntxiv rau qhov no, lwm yam ntxwv xws li `(GSD)` kuj tuaj yeem pom:

• Cov leeg nqaij mob los yog cov leeg nqaij tsis muaj zog.
• Kev loj hlob qeeb thiab qhov hnyav tsis nce ntxiv rau cov menyuam yaus.
• Kev loj hlob ntawm daim siab (hepatomegaly).
• Cov leeg nqaij qis.
• Cov roj cholesterol ntau ntxiv hauv cov ntshav (hyperlipidemia).

Dab tsi ua rau muaj GSD?

Qhov ua rau muaj GSD yog kev hloov pauv caj ces los ntawm niam txiv. Cov kev hloov pauv caj ces no cuam tshuam rau kev ua haujlwm ntawm cov enzymes uas xav tau los khaws thiab siv glycogen. Ib tug menyuam tau txais cov kev hloov pauv caj ces no los ntawm lawv niam thiab txiv.

Feem ntau cov GSDs muaj tus qauv autosomal recessive inheritance. Qhov no txhais tau tias yog ib tug me nyuam muaj tus mob no, qhov kev hloov pauv ntawm cov noob caj noob ces yuav tsum tau txais los ntawm niam thiab txiv.

Txawm li cas los xij, qee hom, xws li GSD Pawg IX, muaj kev sib txuas ntawm X. Qhov no txhais tau tias qhov kev hloov pauv caj ces yog nyob ntawm koj lub X chromosome. Yog tias ib tug txiv neej (uas tsuas muaj ib lub X chromosome) muaj qhov kev hloov pauv no, nws yuav kis tus kab mob. Yog tias ib tug poj niam muaj qhov kev hloov pauv no ntawm ib lub X chromosome thiab lwm lub X chromosome noj qab nyob zoo, nws feem ntau yuav tsis qhia cov tsos mob, tab sis nws yuav yog tus nqa tus kab mob.

Kuv yuav ua li cas thiaj paub tias kuv muaj '(GSD)'?

Yuav kom paub tseeb tias koj tus menyuam puas muaj GSD, koj tus kws kho mob yuav xaj ntau qhov kev kuaj mob. Vim tias GSD yog ib yam mob uas tsis tshua muaj, nws yuav siv sijhawm me ntsis los txiav txim seb puas muaj lwm yam mob thiab nrhiav seb lawv muaj hom GSD twg. Cov kev kuaj mob no yuav suav nrog:

• Kev kuaj ntshav qab zib thaum sawv ntxov: Yog tias koj cov ntshav qab zib qis tom qab koj tsis tau noj dab tsi thaum sawv ntxov, nws yuav yog ib qho cim ntawm GSD.
• Kev kuaj ntshav ketone: Thaum lub cev siv tsis tau glucose, nws hlawv cov rog kom muaj zog. Qhov no tsim cov tshuaj hu ua ketones. Cov menyuam yaus uas muaj GSD feem ntau muaj tus mob ketosis (ketones ntau ntxiv hauv cov ntshav).
• Vaj huam sib luag metabolic yooj yim: Qhov no tuaj yeem muab lub tswv yim ntawm tus menyuam txoj kev noj qab haus huv tag nrho.
• Vaj huam sib luag lipid: Qhov no kuj tseem ceeb vim tias cov roj cholesterol ntau (hyperlipidemia) yog ib qho uas pom ntau hauv GSD.
• Kev kuaj mob siab: Cov no tuaj yeem kuaj xyuas kev noj qab haus huv ntawm koj tus menyuam lub siab. Yog tias muaj qhov tsis zoo li qub, nws yuav yog ib qho cim ntawm GSD.
• Kev Kuaj Zis: Kev kuaj zis tuaj yeem kuaj xyuas cov qib creatinine (uas qhia txog kev ua haujlwm ntawm lub raum) thiab cov qib uric acid. GSD feem ntau qhia tau tias muaj cov qib uric acid ntau (hyperuricemia) .
• Kev kuaj ultrasound hauv plab: Qhov no tuaj yeem kuaj xyuas seb tus menyuam lub siab puas loj dua.
• Kev kuaj noob caj noob ces: Qhov no kuaj xyuas seb puas muaj teeb meem nrog cov noob caj noob ces uas cuam tshuam nrog ntau yam enzymes.

Txawm hais tias muaj cov kev kuaj noob caj noob ces tshwj xeeb los txheeb xyuas ntau hom GSD, qee zaum koj tus menyuam tus kws kho mob yuav pom zoo kom ua qhov biopsy , uas yog siv ib daim nqaij me me los ntawm lub siab lossis cov leeg, los paub meej tias yog tus kab mob.

Yuav kho GSD li cas?

Tu siab kawg li, tsis muaj kev kho rau tus kab mob glycogen storage. Kev kho mob feem ntau yog tsom rau kev tswj cov tsos mob. Cov kev xaiv kho mob sib txawv nyob ntawm hom GSD uas koj muaj. Nov yog qee cov piv txwv ntawm cov kev xaiv kho mob:

• Tiv thaiv kom cov ntshav qab zib qis: Kev muab cov hmoov pob kws tsis tau siav lossis cov khoom noj khoom haus zoo sib xws rau lub sijhawm thiab hauv qhov ntau thiab tsawg yuav pab kom cov ntshav qab zib ruaj khov. Cov hmoov pob kws yog cov carbohydrate nyuaj me ntsis rau lub cev zom. Yog li ntawd, nws tuaj yeem tswj cov ntshav qab zib rau lub sijhawm ntev dua li cov carbohydrates pom hauv cov khoom noj ib txwm muaj. Tam sim no muaj cov khoom lag luam zoo dua uas nyob hauv lub cev ntev dua. Qhov no kuj tseem yuav tshem tawm qhov xav tau sawv thaum nruab hmo los pub koj tus dev.
• Kev Kho Mob Ntshav Qab Zib Qis: Yog tias koj cov ntshav qab zib poob qis vim yog GSD , koj yuav tsum kho nws tam sim ntawd nrog cov carbohydrates. Txwv tsis pub, qhov hypoglycemia tuaj yeem hnyav zuj zus thiab ua rau muaj teeb meem xws li qaug dab peg thiab tsis nco qab.
• Tswj cov roj cholesterol siab: Ib pawg tshuaj hu ua statins pab tswj cov roj cholesterol.
• Tswj cov uric acid ntau: Cov tshuaj allopurinol pab txo cov uric acid ntau hauv lub cev.

Qee hom GSD (piv txwv li, GSD hom II) tuaj yeem kho tau nrog kev kho enzyme replacement therapy (ERT) . Qhov no feem ntau yog muab los ua IV infusion. Kev tshawb fawb tseem tab tom ua mus kom pom tias ERT puas siv tau rau lwm hom GSD.

Yog tias lub siab raug puas tsuaj loj heev vim yog GSD, tej zaum yuav tsum tau hloov siab .

Puas tiv thaiv tau kab mob glycogen cia?

Vim tias cov kab mob glycogen cia yog cov kab mob caj ces (uas tau txais los ntawm noob caj ces), peb tsis muaj dab tsi ua tau los tiv thaiv lawv.

Yog tias ib tug neeg hauv koj tsev neeg muaj GSD, thiab koj xav muaj menyuam, nws yog ib lub tswv yim zoo los nrhiav kev pab tswv yim txog kev hloov pauv caj ces kom paub seb koj puas yog tus nqa cov kev hloov pauv caj ces no.

Tus neeg uas muaj tus kab mob '(GSD') muaj mob zoo li cas?

Hauv feem ntau hom GSD, kev kuaj mob thaum ntxov thiab kev tswj hwm kom zoo tuaj yeem txhim kho tus neeg mob txoj kev kwv yees. Txawm li cas los xij, qee hom GSD nyuaj dua rau kev tswj hwm. Koj tus kws kho mob tuaj yeem muab lub tswv yim zoo dua rau koj txog yam yuav tshwm sim.

Cov teeb meem uas yuav tshwm sim ntawm GSD yog dab tsi?

GSD tuaj yeem ua rau muaj ntau yam teeb meem. Nws nyob ntawm:

• Nyob rau ntawm hom `(GSD)`.
• Yog tias kev kuaj mob qeeb.
• Tus kab mob, yog tias tsis tswj hwm kom zoo, yuav txuas ntxiv mus.

Piv txwv li, qee qhov teeb meem uas tshwm sim vim tsis tau kho "(GSD)" Pawg I yog:

• Cov pob txha ceev txo qis, pob txha tawg yooj yim, thiab osteoporosis .
• Kev laus zuj zus qeeb.
• Mob pob qij txha.
• Kab mob raum.
• Mob ntshav siab hauv lub ntsws.
• Cov qog nqaij hlav ntawm lub siab uas tsis yog mob qog noj ntshav (hepatic adenomas).
• Cov poj niam uas muaj mob polycystic ovary syndrome (PCOS).
• Kev mob ntawm lub txiav (pancreatitis).
• Cov ntshav qab zib qis ntau zaus tuaj yeem cuam tshuam rau kev ua haujlwm ntawm lub hlwb.

Lub neej ntawm ib tug neeg uas muaj '(GSD)' yog dab tsi?

Lub neej ntev ntawm ib tug neeg uas muaj tus kab mob glycogen storage disease (GSD) txawv nyob ntawm hom kab mob, kuaj pom tus kab mob thaum ntxov npaum li cas, thiab tswj tau zoo npaum li cas. Qee hom kab mob tuaj yeem ua rau tuag taus thaum tseem yau, thaum lwm hom kab mob tuaj yeem ua rau lub neej ntev li qub. Koj tus kws kho mob tuaj yeem muab cov lus qhia zoo tshaj plaws rau koj txog qhov no.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj lossis koj tus menyuam muaj cov leeg nqaij tsis muaj zog lossis cov tsos mob ntawm cov ntshav qab zib qis tas li, mus ntsib kws kho mob tam sim ntawd.

Cov kab mob glycogen khaws cia yog cov mob tsis tshua muaj thiab nyuaj. Yog li, yog tias ua tau, nws yog qhov zoo tshaj plaws los nrhiav tus kws kho mob uas paub txog tus kab mob no thiab yuav kho nws li cas. Pab neeg kho mob ntawm koj tus menyuam yuav nrog koj txhua kauj ruam ntawm txoj kev los pab koj txiav txim siab txog kev kho mob zoo tshaj plaws rau lawv.

Cov Lus Qhia Txog Kev Nqa Mus Tsev:

Yog li ntawd, kuv vam tias koj tam sim no nkag siab zoo dua txog yam peb tau tham txog, Glycogen Storage Disease (GSD). Txawm hais tias qhov no yog ib qho teeb meem nyuaj me ntsis, nws yog ib qho tseem ceeb heev uas yuav tsum nco ntsoov cov ntsiab lus tseem ceeb.

Nco ntsoov: GSD yog ib pawg kab mob tsis tshua muaj, uas tau txais los ntawm noob caj ces uas ua rau lub cev tsis siv glycogen (peb lub cev khaws cov suab thaj kom raug).

• Cov tsos mob tseem ceeb: Cov ntshav qab zib qis ntau zaus (hypoglycemia) thiab qaug zog sai thaum lub sijhawm ua si.
• Ua rau: Cov enzyme tsis txaus los ntawm kev hloov pauv caj ces.
• Kev kuaj mob: Kev kuaj ntshav, kev kuaj zis, kev siv ultrasound, kev kuaj noob caj noob ces, thiab tej zaum yuav kuaj ib qho nqaij los ntawm lub cev.
• Kev Kho Mob: Kev tswj cov tsos mob yog qhov tseem ceeb. Kev noj zaub mov (tshwj xeeb yog hmoov pob kws), tshuaj yog tias tsim nyog, thiab kev kho mob hloov enzyme (ERT) rau qee hom.
• Qhov tseem ceeb tshaj plaws: Kev kuaj mob thaum ntxov thiab kev tswj hwm kom zoo yuav pab tau koj ua neej nyob zoo li qub. Yog tias koj muaj cov tsos mob, tsis txhob ncua sijhawm nrhiav kev pab kho mob.

Peb vam tias cov ntaub ntawv no yuav pab tau koj. Nyob zoo!