Mob ntshav qab zib mellitus MODY: cov tsos mob thiab kho kab mob

Lub xyoo pua 21st yog xyoo pua ntawm cov cuab yeej tshiab thiab kev tsim txuj ci, nrog rau lub xyoo pua cov kab mob tshiab.

Tib neeg lub cev tshwj xeeb hauv nws cov qauv, tab sis nws kuj tseem ua rau poob thiab yuam kev.

Nyob rau hauv kev cuam tshuam ntawm ntau yam chiv keeb thiab mutagens, tib neeg genome tuaj yeem hloov kho, uas ua rau muaj tus kab mob caj ces.

Mob ntshav qab zib yog ib tus ntawm cov.

Mob ntshav qab zib li cas yog modi

Ntshav qab zib mellitus yog qhov ua txhaum nyob rau hauv endocrine system, lub hauv paus ntawm kev ua tiav / ib feem ntawm cov insulin tsis txaus hauv tib neeg lub cev. Qhov no nyeg ua rau cuam tshuam nyob rau hauv tag nrho cov metabolism. Ntawm txhua qhov kev cuam tshuam ntawm cov tshuaj endocrine, nws siv 1 qhov chaw. Raws li qhov ua rau ploj tuag - 3rd qhov chaw.

Yog li, muaj ntau qeb:

• insulin tiv thaiv lossis hom ntshav qab zib hom 1,
• non-insulin dependant lossis hom ntshav qab zib hom 2,
• Mob ntshav qab zib thaum cev xeeb tub (cev xeeb tub).

Nws kuj muaj ntau hom:

• pancreatic beta cell noob hloov,
• endocrinopathies,
• kis tau
• Mob ntshav qab zib los ntawm tshuaj lom neeg thiab tshuaj.

MODY yog ib hom mob ntshav qab zib uas muaj tsawg tshaj plaws nyob rau lub sijhawm txij 0 txog 25 xyoo. Qhov tshwm sim ntawm cov pej xeem dav dav yog kwv yees li 2%, thiab hauv cov menyuam yaus - 4,5%.

MODY (kev paub qab hau-ntawm kev teeb tsa ntshav qab zib ntawm cov tub ntxhais hluas) cov lus zoo li "cov neeg mob ntshav qab zib rau cov neeg hluas." Nws kis tau los ntawm kev sib raug zoo neej, Dais lub autosomal hom kev coj zoo (tub thiab ntxhais puav leej cuam tshuam tib yam). Kev ua tsis zoo tshwm sim hauv cov neeg nqa khoom ntawm cov ntaub ntawv ntsig txog, vim yog vim li cas lub hom phiaj ntawm lub tsev me hloov pauv, hu ua haujlwm ntawm beta hlwb.

Beta cell tsim cov tshuaj insulin, uas yog siv los ua cov piam thaj rau kev tawm suab. Nws, nyeg, ua haujlwm ua lub zog hluav taws xob rau lub cev. Nrog MODY, qhov sib lawv liag yog cuam tshuam thiab cov ntshav qab zib hauv tus menyuam nce siab.

Kev faib tawm

Txog hnub tim, cov kws tshawb nrhiav tau txheeb 13 qhov tshwm sim ntawm MODI ntshav qab zib. Lawv sib haum rau kev hloov hauv 13 genotypes uas ua rau tus kab mob no.

Hauv 90% ntawm tus neeg mob, tsuas yog 2 hom pom:

• MODY2 - ib qho kev tsis txaus ntseeg hauv cov qog glucokinase,
• MODY3 - ib qho kev tsis xws luag hauv cov gene rau qhov muaj feem nuclear ntawm hepatocytes 1a.

Cov foos foos tseem tshuav tsuas yog 8-10% ntawm rooj plaub.

• MODY1 - ib qho kev tsis sib haum xeeb ntawm cov gene rau lub zog nuclear ntawm hepatocytes 4a,
• MODY4 - ib qho kev tsis xws luag hauv cov gene ntawm kev tsim tawm yam 1 ntawm cov kua dej,
• MODY5 - ib qho kev tsis xws luag hauv cov gene rau lub zog nuclear ntawm hepatocytes 1b,
• MODYX.

Tab sis muaj lwm cov noob uas cov kws tshawb fawb tseem tsis tau paub meej.

Symptomatology

Mody ntshav qab zib hauv tus menyuam raug kuaj pom ntau dua los ntawm lub caij nyoog, txij li ntawm cov duab hauv chaw kuaj mob yog muaj ntau yam sib txawv. Ua ntej tshaj plaws, nws zoo sib xws rau cov tsos mob ntawm hom 1 thiab ntshav qab zib hom 2. Tus kab mob no yuav tsis tshwm sim ntev los yog tsim kev kub ntxhov ua insulin-mob ntshav qab zib mellitus.

Glucokinase yog ib qho isoenzyme ntawm daim siab.

• piam thaj kev hloov pauv thiab hloov dua siab rau cov piam thaj-6-phosphate nyob rau hauv pancreatic beta hlwb thiab mob siab hepatocytes (thaum muaj ntau dua cov piam thaj),
• tswj cov tshuaj insulin tso tawm.

Txog 80 ntau kev sib hloov ntawm cov glucokinase cov noob tau piav qhia hauv cov ntawv nyeem scientific. Raws li qhov tshwm sim, cov enzyme kev ua si tsawg dua. Kev siv tsis txaus ntawm cov piam thaj tshwm sim, yog li ntawd, cov piam thaj nce siab.

• tib qhov tshwm sim hauv ob leeg ntxhais thiab tub,
• kev siv ceev ceev hyperglycemia txog 8.0 mmol / l,
• glycosylated hemoglobin nyob rau nruab nrab 6.5%,
• asymptomatic chav kawm - feem ntau kuaj pom lub sijhawm kuaj mob,
• cov kev mob nyhav (retinopathy, proteinuria) - tsis tshua muaj,
• tej zaum ua zuj zus thaum lub hnub nyoog laus dua,
• feem ntau tsis tas yuav muaj tshuaj insulin.

Hepatocyte Qhov Tseeb Txog Nuclear 1a yog protein qhia hauv hepatocytes, islets ntawm Langerhans, thiab lub raum. Tus txheej txheem ntawm kev hloov pauv hauv cov menyuam yaus uas muaj ntshav qab zib modi3 tsis paub. Pancreatic beta-cell ua haujlwm tsis zoo hloov zuj zus thiab cov tshuaj insulin zais tsis muaj peev xwm. Qhov no raug pom nyob rau hauv lub raum - qhov rov qab nqus ntawm qabzib thiab amino acids txo qis.

Nws sai sai nws ua tau nws tus kheej:

• nce qabzib rau cov lej siab,
• nquag loj heev- thiab muaj teeb meem microvascular,
• tsis muaj rog
• tsis zoo li lub sijhawm,
• yam li mob ntshav qab zib hom 1,
• nquag tswj hwm cov kua dej.

Hepatocyte nuclear factor 4a yog cov khoom muaj protein nyob hauv daim siab, tus kabmob ua paug, lub raum thiab hnyuv. Hom no zoo ib yam li mody3, tab sis tsis hloov pauv lub raum. Keeb kwm muaj tsawg, tab sis yog mob hnyav. Feem ntau tshwm sim tom qab 10 xyoo ntawm lub hnub nyoog.

Lub hauv paus ntsiab lus ntawm insulin1 yog koom nrog hauv kev txhim kho ntawm lub txiav. Tus xwm txheej me me heev. Txheeb xyuas tus kab mob hauv cov menyuam yug tshiab vim tsis muaj kev hloov khoom nruab nrog. Qhov nruab nrab ntawm kev muaj sia nyob ntawm cov menyuam no tseem tsis tau paub.

Hepatocyte nuclear yam 1b - nyob hauv ntau lub plab hnyuv siab raum thiab cuam tshuam kev loj hlob ntawm cov plab hnyuv siab raum txawm tias nyob hauv utero.

Nrog kev puas tsuaj, kev hloov pauv ntawm noob, hloov twb pom hauv tus menyuam mos:

• txo lub cev hnyav
• pancreatic cell tuag,
• kev ua haujlwm ntawm chaw mos.

Lwm hom ntshav qab zib modi muaj qhov zoo sib xws, tab sis qee yam hom tuaj yeem paub qhov txawv tsuas yog los ntawm kev tshawb fawb caj ces.

Kev kuaj mob

Kev kuaj pom tseeb tseeb cuam tshuam rau kev xaiv tshuaj ntawm tus kws kho mob. Feem ntau, hom 1 lossis ntshav qab zib hom 2 tau kuaj tau yam tsis muaj kev txhawj xeeb dab tsi ntxiv. Cov ntsiab kev kuaj mob:

• lub hnub nyoog 10-45 xyoo,
• cov ntaub ntawv sau npe ntawm cov piam thaj ntau hauv 1st, 2nd tiam,
• tsis tas yuav muaj cov tshuaj insulin nrog cov kab mob ntev li 3 xyoos,
• tsis muaj qhov hnyav dua,
• qhov taw qhia ib txwm ntawm cov protein C-peptide hauv cov ntshav,
• pancreatic antibody deficiency,
• qhov kev tsis tuaj ntawm ketoacidosis nrog ntse tsa.

Txoj Kev Kuaj Cov Neeg Mob:

• xyuas tag nrho ntawm anamnesis thiab kev tsis txaus siab, kos ib tsob ntoo hauv tsev neeg, nws yog qhov ua tau los kuaj xyuas cov txheeb ze,
• glycemic txheej xwm thiab yoo mov qab zib,
• kawm txog kua ncauj lub ncauj,
• qhov tsim ntawm glycated hemoglobin,
• biochemical tsom xam cov ntshav (tag nrho CTF, triglycerides, AST, ALT, urea, uric acid, thiab lwm yam),
• Ultrasound ntawm plab,
• hluav taws xob hluav taws xob
• kev tshuaj ntsuam genetic molecular,
• sab laj nrog ib tus kws kho qhov muag, kws kho paj hlwb, kws phais neeg, kev paub kho mob.

Cov kev kuaj mob zaum kawg yog tsim los ntawm kev kuaj cov noob keeb kwm.

Kev kuaj noob yog ua tiav los ntawm polymerase saw cov tshuaj tiv thaiv (PCR). Ntshav tau txais los ntawm tus menyuam, tom qab ntawv cov noob tsim nyog yuav raug cais nyob hauv tsev kuaj sim txhawm rau kuaj kev hloov pauv. Cov txheej txheem raug cai thiab sai, ntev ntawm 3 txog 10 hnub.

Qhov kab mob pathology no qhia tau nws tus kheej hauv cov hnub nyoog sib txawv, yog li txoj kev kho yuav tsum kho kom zoo (piv txwv li, thaum tiav nkauj tiav nraug). Puas muaj kev kho tus mob ntshav qab zib modi? Ua ntej tshaj plaws, kev tawm dag zog txhua lub sijhawm thiab kev noj zaub mov kom lub cev sib npaug yog raug raws cov cai. Qee lub sij hawm qhov no txaus thiab ua rau tag nrho cov nyiaj them.

Lub ntsiab ntawm cov zaub mov thiab lawv cov kev kub siab niaj hnub:

• protein 10-20%,
• rog tsawg dua 30%,
• carbohydrates 55-60%,
• cov cholesterol ua kom qis dua 300 mg / hnub,
• fiber ntau 40 g / hnub
• cov lus ntsev tsawg dua 3 g / hnub.

Tab sis nrog qhov kev mob nyhav zuj zus thiab ntau qhov teeb meem, hloov kev kho mob ntxiv.

Nrog MODY2, cov tshuaj txo cov ntshav qab zib tsis yog kws kho mob, vim tias cov nyhuv yog sib npaug rau 0. Qhov kev xav tau rau cov tshuaj insulin tsawg thiab nws tau tawm los thaum pom tus kabmob. Muaj zaub mov txaus thiab ua kis las.

Nrog MODY3, thawj cov tshuaj kab yog sulfonylurea (Amaryl, Diabeton). Nrog lub hnub nyoog lossis cov teeb meem, qhov kev xav tau rau cov tshuaj insulin tau tshwm sim.

Cov seem uas yuav tsum tau muaj kev saib xyuas los ntawm kws kho mob. Cov kev kho mob tseem ceeb yog nrog insulin thiab sulfonylurea. Nws yog ib qho tseem ceeb kom xaiv cov tshuaj uas yog thiab tiv thaiv cov teeb meem.

Kuj tseem nrov yog yoga, ua pa ua pa, tshuaj ib txwm.

Thaum tsis muaj kev kho kom zoo, qhov muaj teeb meem zoo li no muaj peev xwm ua tau:

• txo kev tiv thaiv,
• cov ntaub ntawv kis hnyav,
• poob siab thiab cov leeg mob
• ntxiv lawm tshob nyob rau hauv cov poj niam, impotence nyob rau hauv cov txiv neej,
• anomalies hauv kev txhim kho kabmob,
• kev koom tes hauv cov txheej txheem ntshav qab zib ntawm lub qhov muag, ob lub raum, mob siab,
• kev txhim kho mob ntshav qab zib tsis xeev plab.

Txhawm rau kom zam dhau qhov no, txhua tus niam txiv raug yuam kom ua tus nquag thiab tam sim nrog tus kws tshaj lij.

Cov Lus Pom Zoo

Yog tias kev kuaj mob hauv tus kab mob MODI raug kuaj pom, ces cov cai hauv qab no yuav tsum raug pom:

• mus ntsib tus kws tshuaj endocrinologist 1 zaug / ib nrab xyoo,
• kuaj glycated hemoglobin 1 sijhawm / ib nrab ntawm ib xyoos,
• cov kev kuaj ntsuas hauv 1 zaug / xyoo,
• siv sij hawm tiv thaiv hauv tsev kho mob 1 zaug / xyoo,
• npaj sijhawm mus tom tsev khomob yam tsis muaj ntshav khov nyob rau thawm hnub thiab / lossis cov cim ntshav qab zib.

Ua raws li cov lus qhia no yuav pab tiv thaiv ntshav qab zib.

MODY mob ntshav qab zib yog dab tsi

MODY mob ntshav qab zib yog ib pawg kev mob tshwm sim ntawm tus kabmob autosomal ua rau tib lub cev hloov pauv uas ua rau muaj qhov tsis zoo ntawm cov txiav thiab cuam tshuam nrog kev siv cov piam thaj hauv cov ntshav los ntawm cov leeg nqaij ntawm lub cev. Feem ntau, tus kabmob kis tau nws tus kheej thaum tiav nkauj tiav nraug. Muaj cov version uas 50% kev mob ntshav qab zib hauv nruab siab yog ib qho ntawm ntau yam ntawm MODI.

Thawj thawj ntawm cov kab mob pathology no tau kuaj pom thawj zaug xyoo 1974, thiab tsuas yog nyob rau nruab nrab xyoo 90, ua tsaug rau kev nce qib hauv cov noob caj noob ces thiab muaj peev xwm kis tau cov kev kuaj keeb kwm ntawm lub ntsej muag, qhia meej txog tus kab mob no tau ua.

Niaj hnub no 13 ntau yam ntawm MODY tau paub. Txhua tus muaj nws ib qho chaw hauv ib cheeb tsam ntawm lub cev tsis xws luag.

Cov tsiaj ntawv luv los piav qhia qhov tsis zoo uas zais qhov chaw ntawm hepatocytes, insulin lwg me me thiab ntu ntawm tes ua lub luag haujlwm rau neurogenic sib txawv, nrog rau kev hloov cov hlwb lawv tus kheej thiab lawv cov tshuaj yeeb dej caw.

Qhov kawg ntawm daim ntawv, ntshav qab zib MODY 13 yog qhov tshwm sim los ntawm kev hloov caj ces hauv ATP-khi cov kab ntawv: hauv thaj av ntawm tsev neeg C (CFTR / MRP) lossis hauv nws cov tswv cuab 8 (ABCC8).

Rau cov ntaub ntawv. Cov kws tshawb fawb yeej paub tseeb tias qhov no tsis yog tag nrho cov tsis xws luag, vim tias cov mob ntshav qab zib rau cov menyuam yaus uas tseem niaj hnub raug kuaj pom, uas tau tshwm sim "mob me" rau hauv cov laus, tsis txhob qhia qhov tsis xws li saum toj no thaum dhau qhov kev kuaj keeb kwm, thiab tsis tuaj yeem yog tus thawj thiab tsis yog ob hom pathology, lossis rau daim foos ib nrab ntawm Lada.

Cov chaw kho mob tshwm sim

Yog tias peb sib piv cov ntshav qab zib MODI nrog insulin-tiv thaiv ntshav qab zib mellitus hom 1 lossis ntshav qab zib hom 2, tom qab ntawd nws cov chav kawm tshwm sim zoo thiab maj mam, thiab ntawm no yog vim li cas:

• Tsis zoo li DM1, thaum cov naj npawb ntawm cov hlwb ua cov kua dej tsim nyog rau insulin tsim nyog rau cov piam thaj muaj peev xwm tas li, qhov no txhais tau hais tias kev sib txuas ntawm cov tshuaj insulin nws tus kheej kuj raug txo qis, nrog MODI ntshav qab zib muaj pes tsawg lub hlwb nrog "tawg" noob yog tas li
• kev kho mob tsis yog ntawm DM 2 ua rau ua rau muaj kev cuam tshuam ntawm hyperglycemia thiab cov nqaij leeg muaj zog tiv thaiv kab mob ntawm cov tshuaj insulin, uas los ntawm txoj kev tau tsim nyob rau hauv qhov pib hauv ib qho nyiaj, thiab tsuas yog nrog cov chav kawm ntev mus rau tus kab mob ua rau nws txo, nws cov ntshav qab zib MODI, suav nrog hauv "muaj hnub nyoog" cov neeg mob, ua txhaum kev tso ntshav qab zib tsawg heev thiab feem ntau tsis ua rau hloov lub cev nyhav, nqhis dej heev, nquag tso zis thiab tso zis.

Kom paub tseeb, thiab tsis txawm 100%, hom mob twg yog MODI ntshav qab zib hauv menyuam yaus lossis hom ntshav qab zib 1, tus kws kho mob tsuas yog tomqab kuaj kev kuaj mob caj ces.

Qhov taw qhia rau qhov kev kawm no, nws tus nqi tseem yog qhov muaj qhov pom tseeb (30 000 rubles), cov no yog MODI cov tsos mob ntshav qab zib:

• nrog kev ua kom paub tus kab mob, thiab yav tom ntej, tsis muaj lub ntsej muag ntse hauv cov ntshav qab zib, thiab qhov tseem ceeb tshaj plaws, kev saib xyuas ntawm ketone lub cev (cov khoom lag luam tawg ntawm cov rog thiab qee cov amino acids) hauv cov ntshav tsis nce siab, thiab lawv tsis pom muaj nyob hauv urinalysis,
• kev soj ntsuam cov ntshav ntshav rau lub siab ntawm C-peptides qhia tau tias koj mus tau li cas,
• glycated hemoglobin nyob rau hauv cov ntshav cov ntshav yog nyob hauv qhov ntau ntawm 6.5-8%, thiab cov ntshav ceev ceev cov ntshav qab zib tsis dhau 8,5 mmol / l,
• tsis muaj cov cim ntawm kev puas tsuaj autoimmunepaub tseeb los ntawm qhov tsis muaj ntawm cov tshuaj tiv thaiv rau pancreatic beta hlwb,
• Zib ntab qab zib mob ntshav qab zib tshwm sim tsis tsuas yog hauv thawj 6 lub hlis tom qab qhov pib ntawm tus kab mob, tab sis kuj tom qab, thiab pheej hais dua, thaum lub sijhawm decompensation tsis tuaj,
• txawm tias ib qho me me ntawm cov tshuaj insulin ua rau ib qho kev hloov kho ruaj khovuas tuaj yeem ntev txog 10-14 lub hlis.

Cov tswv yim kho mob

Txawm hais tias MODI mob ntshav qab zib hauv menyuam yaus lossis tus neeg hluas hloov zuj zus qeeb, kev ua haujlwm ntawm kev ua haujlwm hauv nruab nrog thiab lub xeev ntawm cov kab ke hauv lub cev tseem muaj qhov tsis taus, thiab qhov tsis muaj kev kho yuav ua rau tus mob vias tsis zoo thiab mus rau theem loj ntawm T1DM lossis T2DM.

Kev noj zaub mov zoo thiab kev tawm dag zog ib ce yeej yog qhov yuav tsum tau ua los ntawm kev kho ib hom ntshav qab zib

Cov txheej txheem kev kho mob rau tus mob ntshav qab zib MODI yog tib yam li cov lus qhia rau tus mob ntshav qab zib hom 2, tab sis nrog cov thim rov qab ntawm kev hloov pauv:

• thaum pib - cov tshuaj insulin raug muab tso tseg thiab qhov zoo tshaj plaws ntawm cov tshuaj uas muaj suab thaj, qhov kev tawm dag zog lub cev txhua hnub raug xaiv, kev ntsuas raug coj los qhia meej txog qhov yuav tsum tau txwv tsis pub muaj cov ua kom tsis qab rog,
• tom qab ntawd muaj qhov tshem tawm maj mam txo cov ntshav qab zib cov tshuaj thiab kho ntxiv ntawm lub cev,
• nws yog qhov ua tau los tswj cov piam thaj hauv ntshav ntshav nws yuav txaus tsuas yog xaiv cov kev cai zoo thiab hom kev ua haujlwm, tab sis nrog kev txwv cov khoom qab zib nrog cov tshuaj tom qab "kev so tawm tsam" ntawm cov khoom qab zib.

Rau ib daim ntawv. Qhov tshwj tsis yog MODY 4 thiab 5. Lawv txoj kev kho mob yog tib yam nrog kev tswj hwm cov neeg mob uas muaj ntshav qab zib hom 1. Rau tag nrho lwm yam ntawm MODI DM, insulin jab rov pib dua yog tias npaj los tswj cov ntshav qab zib nrog kev sib xyaw ntawm cov tshuaj uas muaj suab thaj + kev noj zaub mov noj + kev tawm dag zog tsis tau coj cov txiaj ntsig tsim nyog.

Cov yam ntxwv zoo ntawm SD MODI

Nov yog cov lus qhia luv luv ntawm ntau yam ntawm MODY nrog qhov qhia tau ntawm ib txoj kev tshwj xeeb los tswj cov ntshav qabzib, ntxiv rau qhov kev pom tus kheej cov zaub mov tsis muaj carb thiab cov kev tawm dag zog tshwj xeeb.

Lub rooj siv cov ntawv luv luv SSP - txo suab thaj.

Thiab nyob rau hauv xaus ntawm tsab xov xwm, peb xav kom muab tswv yim rau cov niam txiv uas lawv cov me nyuam muaj kev txom nyem los ntawm tus kab mob ntshav qab zib. Tsis txhob rau txim hnyav rau lawv thaum cov neeg tsis ua raws li cov khoom noj tau txwv, thiab tsis txhob yuam lawv siv dag zog yuam.

Ua ke nrog koj tus kws kho mob, nrhiav cov lus ntawm kev txhawb nqa thiab kev ntseeg uas yuav txhawb koj ntxiv kom ua raws kev noj haus. Zoo, cov kev tawm dag zog tawm dag zog kev tawm dag zog yuav tsum sim coj mus rau hauv qhov kev nyiam ntawm tus menyuam, thiab muaj ntau yam kev ua si txhua hnub, ua rau cov chav kawm tsis tsuas pab tau, tab sis kuj tseem nyiam.