Glycogenosis hom 1 tau piav qhia thawj zaug hauv xyoo 1929 los ntawm Gierke. Tus kab mob no tshwm sim hauv ib kis ntawm ob puas txhiab tus menyuam yug tshiab. Pathology cuam tshuam sib npaug ntawm cov tub thiab ntxhais. Tom ntej no, xav seb Gierke tus kab mob manifests nws tus kheej li cas, nws yog dab tsi, dab tsi kho yog siv.
cov ntaub ntawv dav dav
Txawm hais tias qhov kev tshawb pom ntxov, tsuas yog xyoo 1952 Corey tau kuaj pom tias muaj qhov tsis xws luag. Cov txiaj ntsig ntawm pathology yog autosomal recessive. Gierke's Syndrome yog ib yam kab mob tawm tsam uas cov hlwb ntawm daim siab thiab cov tubules convoluted ntawm lub raum tau ntim nrog glycogen. Txawm li cas los xij, cov nyiaj khaws cia no tsis muaj. Qhov no yog qhia los ntawm hypoglycemia thiab tsis muaj qhov nce hauv cov ntshav qabzib hauv cov lus teb rau glucagon thiab adrenaline. Gierke's Syndrome yog ib yam kab mob nrog rau hyperlipemia thiab ketosis. Cov cim qhia no yog cov yam ntxwv ntawm lub xeev ntawm lub cev nrog kev tsis txaus ntawm carbohydrates. Nyob rau tib lub sijhawm, kev ua haujlwm qis ntawm qabzib-6-phosphatase tau sau tseg hauv daim siab, plab hnyuv, raum (lossis nws tsis tuaj yeem kiag li).
Kawm Pathology
Gierke's syndrome tshwm sim li cas? Tus kab mob no tshwm sim los ntawm qhov tsis xws luag nyob rau hauv lub enzyme system ntawm lub siab. Nws hloov cov piam thaj-6-phosphate rau hauv qabzib. Nyob rau hauv cov ntaub ntawv ntawm defects, nws yog ua txhaum raws ligluconeogenesis thiab glycogenolysis. Qhov no, nyob rau hauv lem, provokes hypertriglyceridemia thiab hyperuricemia, lactic acidosis. Glycogen tsim nyob rau hauv daim siab.
Girke's disease: biochemistry
Hauv cov enzyme uas hloov cov piam thaj-6-phosphate rau hauv cov piam thaj, ntxiv rau nws tus kheej, muaj tsawg kawg yog plaub subunits. Cov no suav nrog, tshwj xeeb, kev tswj hwm Ca2 (+)-binding protein compound, translocases (carrier proteins). Lub kaw lus muaj T3, T2, T1, uas ua kom muaj kev hloov pauv ntawm cov piam thaj, phosphate thiab qabzib-6-phosphate los ntawm endoplasmic reticulum membrane. Muaj qee yam zoo sib xws hauv cov hom uas Gierke tus kab mob muaj. Lub tsev kho mob ntawm glycogenosis Ib thiab Ia zoo sib xws, hauv qhov no, lub siab biopsy tau ua kom paub meej qhov kev kuaj mob thiab tsim kom muaj qhov tsis zoo enzyme. Kev ua haujlwm ntawm glucose-6-phosphatase kuj tau tshawb xyuas. Qhov sib txawv hauv kev kho mob tshwm sim ntawm hom Ib thiab hom Ia glycogenosis yog qhov qub yog tus cwj pwm los ntawm kev hloov pauv lossis mus tas li neutropenia. Hauv tshwj xeeb yog mob hnyav, agranulocytosis pib tsim. Neutropenia yog nrog los ntawm kev ua haujlwm tsis zoo ntawm monocytes thiab neutrophils. Hauv qhov no, qhov tshwm sim ntawm candidiasis thiab staphylococcal kab mob nce. Qee tus neeg mob ua rau mob plab hnyuv, zoo ib yam li Crohn tus kab mob.
Cov cim qhia ntawm pathology
Ua ntej tshaj, nws yuav tsum tau hais tias Gierke tus kab mob tshwm sim txawv ntawm cov menyuam yug tshiab, menyuam mos thiab cov menyuam laus. Cov tsos mob tshwm sim sai sai hypoglycemia. Txawm li cas los xij, feem ntaupathology yog asymptomatic. Qhov no yog vim qhov tseeb tias cov me nyuam mos feem ntau tau txais cov khoom noj khoom haus thiab cov txiaj ntsig zoo ntawm cov piam thaj. Gierke tus kab mob (cov duab ntawm cov neeg mob tuaj yeem pom hauv phau ntawv kho mob) feem ntau kuaj pom tom qab yug me nyuam ob peb hlis tom qab. Nyob rau tib lub sijhawm, tus menyuam muaj hepatomegaly thiab nce hauv plab. Subfebrile kub thiab ua pa luv yam tsis muaj cov tsos mob ntawm tus kab mob tuaj yeem nrog Gierke tus kab mob. Cov ua rau tom kawg yog lactic acidosis vim tsis txaus cov piam thaj thiab hypoglycemia. Nyob rau tib lub sijhawm, qhov sib txawv ntawm kev pub mis nce ntxiv thiab ib hmos pw tsaug zog ntev. Hauv qhov no, cov tsos mob ntawm hypoglycemia tau sau tseg. Nws lub sijhawm thiab qhov hnyav pib maj mam nce, uas, dhau los, ua rau cov kab mob metabolic tsis zoo.
Txhais tau
Thaum tsis kho, hloov pauv ntawm qhov pom ntawm tus menyuam raug sau tseg. Hauv particular, cov leeg nqaij thiab pob txha pob txha hypotrophy, qeeb ntawm lub cev kev loj hlob thiab kev loj hlob yog yam ntxwv. Kuj tseem muaj cov rog rog hauv qab ntawm daim tawv nqaij. Tus menyuam pib zoo li tus neeg mob uas muaj Cushing's syndrome. Nyob rau tib lub sijhawm, tsis muaj kev ua txhaum cai hauv kev txhim kho kev sib raug zoo thiab kev paub txog kev txawj ntse, yog tias lub hlwb tsis raug puas tsuaj thaum rov qab los ntawm kev tawm tsam hypoglycemic. Yog tias kev yoo mov hypoglycemia tseem pheej ua thiab tus menyuam tsis tau txais cov carbohydrates xav tau, qhov kev ncua sijhawm ntawm lub cev thiab kev loj hlob yuav qhia meej. Qee qhov xwm txheej, cov menyuam yaus uas muaj hom I hypoglycenosis tuag vim muaj ntshav siab. Ntawmplatelet dysfunction rov tshwm sim los ntshav los yog los ntshav tom qab kho hniav lossis lwm yam kev phais.
Muaj cov teeb meem hauv platelet adhesion thiab sib sau ua ke. Kev tso tawm ntawm ADP nyob rau hauv cov lus teb rau kev sib cuag nrog collagen thiab adrenaline kuj yog kev puas tsuaj. Cov kab mob metabolic cuam tshuam ua rau thrombocytopathy, uas ploj tom qab kho. Kev loj hlob ntawm lub raum yog kuaj los ntawm ultrasound thiab excretory urography. Cov neeg mob feem ntau tsis muaj lub raum tsis zoo. Nyob rau tib lub sijhawm, tsuas yog qhov nce hauv glomerular pom tus nqi tau sau tseg. Cov mob hnyav tshaj plaws yog nrog los ntawm tubulopathy nrog glucosuria, hypokalemia, phosphaturia, thiab aminoaciduria (xws li Fanconi's syndrome). Qee zaum, albuminuria tau sau tseg hauv cov tub ntxhais hluas. Hauv cov menyuam yaus, muaj mob raum mob hnyav nrog cov proteinuria, nce siab thiab txo qis hauv creatinine tshem tawm, uas yog vim muaj kev cuam tshuam ntawm fibrosis thiab focal segmental glomerulosclerosis. Tag nrho cov kev ua txhaum cai no ua rau lub raum tsis ua haujlwm kawg. Qhov luaj li cas ntawm tus po nyob hauv qhov qub.
siab adenomas
Lawv tshwm sim hauv ntau tus neeg mob vim ntau yam. Lawv feem ntau tshwm sim thaum muaj hnub nyoog 10 thiab 30. Lawv tuaj yeem ua malignant, hemorrhages rau hauv adenoma. Cov formations ntawm scintigrams tau nthuav tawm raws li thaj chaw ntawm kev txo qis ntawm cov isotope. Nws yog siv los ntsuas adenomastxheej txheem ultrasound. Nyob rau hauv cov ntaub ntawv ntawm kev ua xyem xyav ntawm malignant neoplasm, ntau cov ntaub ntawv MRI thiab CT yog siv. Lawv ua kom nws muaj peev xwm taug qab qhov kev hloov pauv ntawm qhov tseeb txwv tsim ntawm ib qho me me rau hauv ib qho loj dua nrog cov npoo tsis meej. Nyob rau tib lub sijhawm, kev ntsuas ib ntus ntawm cov ntshav ntawm alpha-fetoprotein (ib qho cim ntawm daim siab mob qog noj ntshav) raug pom zoo.
Diagnosis: Yuav Tsum Tshawb Nrhiav
Uric acid, lactate, qib qabzib, lub siab ua haujlwm ntawm lub plab khoob yog ntsuas rau cov neeg mob. Hauv cov menyuam mos thiab cov menyuam mos, qhov concentration ntawm cov piam thaj hauv cov ntshav tom qab 3-4 teev ntawm kev yoo mov yuav txo qis rau 2.2 mmol / liter lossis ntau dua; Nrog lub sijhawm ntev tshaj li plaub teev, qhov concentration yuav luag ib txwm tsawg dua 1.1 mmol / liter. Hypoglycemia yog nrog los ntawm kev nce ntxiv hauv lactate thiab metabolic acidosis. Whey feem ntau yog pos huab los yog milky vim muaj cov triglyceride siab heev thiab cov qib roj cholesterol siab. Kuj tseem muaj kev nce ntxiv hauv cov haujlwm ntawm AlAT (alanine aminotransferase) thiab AsAT (aspartaminotransferase), hyperuricemia.
Nkauj hmoob audition
Txhawm rau sib txawv hom kuv los ntawm lwm cov glycogenoses thiab txiav txim siab qhov tsis zoo ntawm enzyme hauv cov menyuam mos thiab cov menyuam loj hlob, qib ntawm cov metabolites (dawb fatty acids, qabzib, uric acid, lactate, ketone lub cev), cov tshuaj hormones (STH (somatotropic hormone).), cortisol, adrenaline, glucagon, insulin) tom qab qabzib thiab hauv plab khoob. Txoj kev tshawb no yog ua raws litej tswvyim. Tus menyuam tau txais cov piam thaj (1.75 g / kg) ntawm qhov ncauj. Tom qab ntawd txhua 1-2 teev coj cov ntshav kuaj. Cov piam thaj concentration yog ntsuas sai. Kev soj ntsuam zaum kawg tsis pub dhau 6 teev tom qab noj cov piam thaj lossis thaum nws cov ntsiab lus tau txo qis rau 2.2 mmol / liter. Ib qho kev sim siab nrog glucagon kuj tau ua.
Special Studies
Nyob rau hauv lawv, ua daim siab biopsy. Glycogen kuj tseem raug tshuaj xyuas: nws cov ntsiab lus tau nce ntxiv, tab sis cov qauv nyob hauv qhov qub. Kev ntsuas ntawm glucose-6-phosphatase kev ua haujlwm yog ua tiav hauv kev puas tsuaj thiab tag nrho daim siab microsomes. Lawv raug rhuav tshem los ntawm kev rov ua kom khov thiab thawing ntawm biopath. Tawm tsam keeb kwm yav dhau los ntawm hom Ia glycogenosis, kev ua haujlwm tsis raug txiav txim siab hauv kev puas tsuaj lossis tsis zoo microsomes, hauv hom Ib nws yog ib txwm nyob hauv thawj zaug, thiab hauv qhov thib ob nws txo qis lossis tsis tuaj.
Girke's disease: kho
Nyob rau hauv hom kuv glycogenosis, cov kab mob metabolic cuam tshuam nrog cov piam thaj tsis txaus tshwm sim tom qab noj mov ob peb teev tom qab. Nrog rau kev yoo mov ntev, cov kev mob tshwm sim hnyav heev. Nyob rau hauv tas li ntawd, kev kho mob ntawm pathology yog txo mus rau lub zaus ntawm pub tus me nyuam. Lub hom phiaj ntawm kev kho yog tiv thaiv kom tsis txhob poob hauv qabzib hauv qab 4.2 mmol / liter. Qhov no yog theem pib ntawm qhov kev tso tawm ntawm cov tshuaj hormones contrasular yog stimulated. Yog hais tias tus me nyuam tau txais cov piam thaj ntau txaus raws li lub sijhawm, nws yuav txo qis ntawm daim siab. Nyob rau tib lub sijhawm, kev kuaj ntsuas tsis ua raws li tus qauv, thiab kev loj hlob ntawm psychomotor thiab kev loj hlobstabilized, los ntshav ploj.
