Cudurka Gierke ee: sababaha, calaamadaha, daaweynta

cudurka kaydinta Glycogen type 1 markii ugu horaysay la tilmaamay in 1929 Gierke. Cudurku wuxuu ku dhacaa mid ka mid ah laba boqol oo kun oo dhalatay. Pathology si siman u saamaysaa labada wiilasha iyo gabdhaha. Next, ka fiirso sida ay u muujin cudurka Gierke ee, taas oo ah waxa loo isticmaalaa daaweynta.

Guudmarka

In kasta oo la ogaado yara hore, kaliya 1952, Corey lagu rakibay iin enzyme. Dhaxalka cudurada waa autosomal recessive. Gierke syndrome - cudur kuwaasoo unugyada beerka, iyo tubules convoluted of kelyaha glycogen ka buuxsamay. Si kastaba ha ahaatee, kaydka, kuwaas oo aan la heli karin. Tan waxaa lagu tilmaamay by maqnaanshaha hypoglycemia, iyo in la kordhiyo fiirsashada dhiigga glucose ka jawaab u glucagons iyo epinephrine. Gierke ee syndrome - cudur ku weheliyay hyperlipemia iyo ketosis. Astaamahani waa mid caan ku ah gobolka oo jidhka ka mid at deficiency of carbohydrates. In beerka, unugyada mindhicirka, kelyaha jiro hawl yar ee glucose-6-phosphatase (ama ma aha at dhan).

Koorsada cudurka

Sidee Gierke ee syndrome? Cudurku waxaa keena cilladaha nidaamka enzyme beerka ah. Waxaaba galay glucose, glucose-6-phosphate. Marka cilladaha sida gluconeogenesis ka jabay iyo glycogenolysis. Tani, markeeda, dhirfinaya hypertriglyceridemia iyo hyperuricemia, aysiidh jėrto. raasamaal glycogen beerka ku dhacaa.

Glycogen Kaydinta Disease Type I: Kiimikada noole

nidaamka enzyme in badasha glucose galay glucose-6-phosphate, marka lagu daro isaga qudhiisa in, waxaa jira weli waa ugu yaraan afar subunits. Waxaa ka mid ah, gaar ahaan, waxaa ka mid ah sharciyeed Ca2 (+) - qabanaya translocase xarunta protein (borotiinada xamuulka ah). Nidaamka wuxuu ka kooban yahay T3, T2, T1, hubinta isbedelka of glucose, phosphate iyo glucose-6-phosphate dhex xuub reticulum endoplasmic. Waa isku mid gaar ah ee nooc ah in uu leeyahay cudurka Gierke ee. Clinic glycogenosis Ib iyo IA waa la mid, oo xidhiidh la this, si loo xaqiijiyo cudurka lana abuuro iin enzymatic saxda sameeyaa xinjirta beerka ah. Sidoo kale baaritaan waxqabad ee glucose-6-phosphatase. Farqiga ee daliilka kiliinikada dhexeeya nooca glycogenosis IA iyo Ib waxaa xusay in neutropenia ugu horeeyay ee si joogto ah ama transient. Xaaladaha daran, wuxuu bilaabaa in ay horumariyaan Agranulocytosis. Neutropenia Ulasocto cillad ah monocytes iyo neutrophils. Marka tan la eego, waxaa la sii kordhaya suurtagalnimada of candida iyo staph cudurada. Bukaanka qaar ka mid ah waxaa jira barar ah ee mindhicirka, oo la mid ah cudurka Crohn.

calaamadaha cudurada

First of dhan waa in la sheegay in ay ku dhashay, dhallaanka iyo carruurta waaweyn si ka duwan muujiyey cudurka Gierke ee. Astaamaha ka muuqan in qaab sooman hypoglycemia. Si kastaba ha ahaatee, in kiisaska intooda badan ay yihiin cudurada astaamo. Tan waxa u sabab xaqiiqada ah in carruurta yaryar ayaa ku quudin jiray inta badan ku filan iyo qadarka fiicnayn of glucose. Glycogen Kaydinta Disease Type I (Photos of kiisaska waxaa laga heli karaa buugaagta tixraaca caafimaad) waxaa inta badan laga helay dhalashada ka dib markii dhawr bilood ka dib. Ilmuhu kiiskan shaaca ka qaaday hepatomegaly iyo wayneeyo caloosha. qandho-fasalka Low iyo dyspnea aan calaamado cudur ah ayaa sidoo kale soo raaci kara cudurka Gierke. Sababaha ugu dambaysta - aysiidh jėrto ay sabab u tahay wax soo saarka ku filan of glucose iyo hypoglycemia. Iyada oo hurdo ah habeen dheer iyo waxaa jira sii kordhaya dura waqti u dhexeysa quudinta. Isla mar ahaantaana lagu calaamadeeyay calaamadaha hypoglycemia. Its duration iyo adkaanta tartiib ah u kordhi, taas oo, ka bacdi, waxay keenaysaa in xanuunada dheefshiidka, sida systemic.

saamaynta

Haddii aan la daaweyn, calaamadeeyay isbeddel ah ee muuqaalka kore ee ilmaha. Gaar ahaan, waa nafaqo-ka caan ku muruqa iyo lafaha, horumarka jireed gaabis iyo koritaanka. Waxaa sidoo kale jira baruur kayd ah maqaarka hoostiisa. Ilmuhu wuxuu bilaabaa inuu ka dhawaajin sida bukaanka qaba Cushing ee syndrome. Lama calaamadeeyay rabshooyin horumarinta xirfadaha bulshada iyo garashada, haddii aan maskaxda u geysto weerarro hypoglycemic si joogto ah. Haddii sooman hypoglycemia sii socoto iyo ilmahaagu aanu helin lacagta loo baahan yahay ee carbohydrates, dib u dhigto horumarinta jirka iyo koritaanka noqdo oo kala duwan. Xaaladaha qaarkood, caruurta leh nooc ayaan ku dhiman gipoglikenozom sabab u hypertension pulmonary. In case of xadgudub ah dhiig xinjirowga sameeya shaqo arkay sangoror soo noq ama dhiig ka dib markii ilkaha ama wax kale oo qalliin. Waxaa jiray rabshado in Amda iyo xulkii ee platelets. Sidoo kale carqaladeeyey ADP sii daayo jawaab u la xiriiri la collagen oo epinephrine. rabshooyin dheefshiidka systemic xanaajiyeen thrombocytopathy in baaba'aa daaweynta ka dib. Kordhinta ultrasound kelyaha duubay iyo urography excretory. bukaanka intooda badani ma dhici cudurada kelyaha. Waxaa la xusay kordhiyo oo kaliya heerka sifeynta glomerular. The xaaladaha ugu daran waxaa weheliya tubulopathy la glucosuria, hypokalemia, iyo aminoaciduria phosphaturia (la mid ah Fanconi syndrome). Xaaladaha qaarkood, dhallinyarada dabaal albuminuria. Dadka dhalinyarada ah ayaa lagu arkay failure proteinuria daran kelyaha, la kordhiyo cadaadiska iyo hoos u dhac ku ansixin kariyaatiniin, taas oo ay sabab u tahay fibrosis interstitial iyo glomerulosclerosis qof segmental focal. Fawdooyinkaan oo dhan ka cadhaysiinina cudurka kelyaha. Cabirka beeryarada ku hadhay kala duwan ee caadiga ah.

adenoma beerka

Waxay ka dhaca bukaan badan oo noocyo kala duwan oo sababo. Sida caadiga ah, waxay u muuqataa u dhexeyso 10 ilaa 30 sano ee u dhexeeya. Waxay noqon karaan malignant, waxaa laga yaabaa in dhiig galay adenoma. Scintigram waxbarashada Kuwani soo bandhigay sida meelaha raasamaal hoos isotope ah. ultrasound waxaa loo isticmaalaa in lagu ogaado adenomas. In case of shaki kansar isticmaalaya MRI more wargelin iyo CT. Waxay ogolaado in aad loo raad raaco isbeddel ah ee xadka cad of formation of size yar oo si weyn filan cawlan geesaha. Sayidka talinayaa cabirka wareegsan heerka serum of Alfa-fetoprotein (kansarka beerka calaamadeysanayaan cell).

Cilad: Daraasad khasab

Bukaan-socodka qiyaasay heerka of acid uric, lactate, glucose, beerka ensaymes soonka. In ilmaha yaryar iyo dhalaanka ee fiirsashada sonkorta dhiigga soonka ka dib markii 3-4 saacadood ah hoos u dhigay 2.2 mmol / litir ama in ka badan, muddo ka badan afar saacadood ka weyn, midda had iyo jeer waa wax ka yar 1.1 mmol / litir. Hypoglycemia Ulasocto koror weyn oo lactate iyo aysiidh dheefshiidka. Serum badanaa daruuro madow ama u eg caano sabab u fiirsashada aad u sarreeya oo triglycerides iyo heerka kolestaroolka dhexdhexaad ah u kordhay. Sidoo kale arkay horumarinta ee ALT (alanine aminotransferase) iyo AST (aspartaminotransferazy), hyperuricemia.

imtixaanka wakhtigii dhirifka

Si aad u kala nooca aan ka glycogenosis kale oo go'aan sax ah oo iin enzyme ee dhallaanka iyo carruurta waaweyn qiyaasay heerka metabolites (dufanka leh acids free, glucose, uric acid, lactate, meydadka ketonka), hormoonnada (STH (hormone somatotropic), cortisol, adrenaline, glucagons , insulin) iyo glucose ka dib markii soonka. Baadhitaanka ayaa waxaa lagu fuliyaa qaab gaar ah. ilmuhu helo glucose (1.75 g / kg) uurkooda. Markaas 1-2 saacadood kasta dhiiggiisa la soo qaaday. fiirsashada glucose waxaa si deg deg ah ku qiyaasay. Falanqaynta ugu danbeysay aan ka dambeyn lix saacadood ka dib markii uu qofku cuno ee glucose ama marka content ayaa hoos u dhacay 2,2 mmol / litir. Sidoo kale qabtay imtixaan daandaansi la glucagons.

waxbarashada gaarka ah

Inta lagu jiro laga jaro beerka ay sameeyaa. Sidoo kale baaritaan glycogen: ay ka kooban tahay waxaa aad u kordhay, laakiin dhismaha waa in kala duwan ee caadiga ah. Cabirka socota ee glucose-6-phosphatase Halaagnay iyo microsomes beerka oo dhan. Waxay by lagu keydsho soo noqnoqda iyo biopata diirran u baabbi'iyey. Ku saabsan asalka ah ee lagu kaydin jiray glycogen nooca cudurka hawl IA aan la go'aamiyey in la wada baabbi'iyey, in gebi ahaan ama microsomes in nooca Ib - waa caadi in marka hore iyo kii labaad ku ool ah hoos ama ka maqan.

cudurka Gierke ee: Daaweynta

Marka glycogen nooca cudurka kaydinta aan dheefshiidka xanuunada la xidhiidha wax soo saarka ku filan of glucose ka muuqan ka dib cunista dhowr saacadood ka dib. Waayo, gaajo dheer disorder si weyn u xoojiyey. Marka tan la eego, daaweynta cudurada waxaa uu hoos ugu naas-nuujinta inta badan soo noqnoqda. Hadafka daaweynta waa in laga hortago content sonkorta hoos uga dhaco 4.2 mmol / litir. Tani waa marinka at kaas oo kobciyaa dheecaan ah ee hormoonnada kontrisulyarnyh. Haddii ilmo u helo sonkorta ku filan waqtiga, waxaa jira hoos u dhac ku size beerka. beegyada uu Laboratory waqti isku mid ah ayaa ku dhow inay iska caadi ah, iyo horumarka psychomotor iyo koritaanka xasilin, dhiig baaba'aa.