Gierke ta cuta: haddasawa, cututtuka, magani

Glycogen ajiya cuta irin 1 aka farko aka bayyana a cikin shekara ta 1929 Gierke. Haka kuma cutar na faruwa a daya daga dubu ɗari biyu jarirai. Pathology rinjayar daidai biyu maza da mata. Next, la'akari da yadda za a bayyana Gierke ta cuta, wanda shi ne abin da far da ake amfani.

Overview

Duk da mun gwada farkon ganewa, kawai a shekara ta 1952, Corey aka shigar enzyme lahani. Pathology gado ne autosomal recessive. Gierke ciwo - wata cuta da abin da hanta Kwayoyin, kuma convoluted tubules na kodan cika glycogen. Duk da haka, wadannan reserves ba su da samuwa. An nuna wannan ta babu qarancin ruwa, kuma wani karuwa a cikin jini taro na glucose a mayar da martani ga glucagon da epinephrine. Gierke ta ciwo - wata cuta tare da hyperlipemia da ketosis. Wadannan su ne siffofin halayyar da jihar na jiki a rashi na carbohydrates. A cikin hanta, na hanji nama, koda akwai wani low aiki na glucose-6-phosphatase (ko da shi ne ba a duk).

A hanya da cuta

Ta yaya ne Gierke ta ciwo? A cuta ne ya sa ta lahani a cikin enzyme tsarin na hanta. Sai dai a cikin glucose, glucose-6-phosphate. Lokacin da lahani a matsayin karye gluconeogenesis da glycogenolysis. Wannan, bi da bi, ya tsokani hypertriglyceridemia da hyperuricemia, lactic acidosis. A hanta glycogen jari na faruwa.

Glycogen Storage Cuta Type I: Biochemistry

A enzyme tsarin cewa sabobin tuba glucose cikin glucose-6-phosphate, a Bugu da kari a ransa, akwai har yanzu a kalla hudu subunits. Wadannan sun hada da, musamman, sun hada da tsara Ca2 (+) - dauri gina jiki fili translocase (transporter sunadaran). A tsarin ƙunshi T3, T2, T1, tabbatar da canji na glucose, phosphate da kuma glucose-6-phosphate ta cikin endoplasmic reticulum membrane. Akwai wasu kamance a iri da cewa yana da Gierke ta cutar. Clinic glycogenosis ibn da IA ne irin wannan, a cikin wannan connection, ya tabbatar da bincike da kuma kafa madaidaici enzymatic aibi yi a hanta biopsy. Har ila yau, a bincika da ayyukan glucose-6-phosphatase. Bambanci a asibiti manifestations tsakanin glycogenosis irin IA da kuma ibn an lura da cewa na farko m ko mai shudewa neutropenia. A tsanani lokuta, shi zai fara zuwa ci gaba agranulocytosis. Neutropenia tare da tabarbarewa na monocytes da neutrophils. A wannan batun, shi ne kara da alama na Candida da staph cututtuka. Ga wasu marasa lafiya akwai wani kumburi a cikin Gut, kama Crohn ta cuta.

ãyõyin Pathology

Da farko, dole ne a ce cewa a cikin jariri, da jarirai da kuma yara mazan daban bayyana Gierke ta cutar. Alamun bayyana a cikin nau'i na azumi da qarancin ruwa da. Duk da haka, a mafi yawan lokuta suna asymptomatic Pathology. Wannan shi ne saboda gaskiyar cewa jarirai suna ciyar da sau da yawa isasshen kuma mafi kyau duka adadin glucose. Glycogen Storage Cuta Type I (Photos of lokuta za a iya samu a likitanci reference books) sukan kamu bayan haihuwa a 'yan watanni baya. The yaro a cikin wannan harka saukar hepatomegaly da kuma na ciki kara girma. Low-sa zazzabi da dyspnea ba tare da alamun kamuwa da cuta iya bi Gierke cuta. A dalilai na karshen - lactic acidosis saboda kasa samar da glucose da qarancin ruwa da. Tare da dogon dare ta barci da kuma akwai kara lokaci ne tsakanin feedings. A lokaci guda alama bayyanar cututtuka na da qarancin ruwa da. Its duration da kuma mai tsanani a hankali kara, wanda, bi da bi, take kaiwa zuwa rayuwa cuta kamar na tsari.

effects

Idan untreated, alama canje-canje a cikin bayyanar da yaro. A musamman, suna da halayyar murdede kuma kwarangwal tamowa, m jiki ci gaba da kuma ci gaba. Akwai kuma mai adibas karkashin fata. The yaro fara sauti kamar haƙuri wanda yana Cushing ta ciwo. An ba da alama disturbances a ci gaban zaman jama'a da kuma fahimi basira, idan kwakwalwa na ba su lalace ta hanyar maimaita hypoglycemic harin. Idan azumi da qarancin ruwa da ta ci gaba da yaron bai yi na'am da ake bukata adadin carbohydrates, jinkirta a jiki bunkasuwa zama bambanta. A wasu lokuta, yara da irin na gipoglikenozom mutu saboda na huhu hauhawar jini. A hali na take hakkin na platelet aiki lura maimaita nosebleeds ko zub da jini bayan hakori ko wasu tiyata. Akwai sun kasance disturbances a mannewa da kuma tari na platelets. Har ila yau lalace ADP saki a mayar da martani ga tuntube da collagen da epinephrine. Tsari na rayuwa disturbances tsokani thrombocytopathy cewa vuya bayan magani. Karuwan koda taped duban dan tayi da kuma excretory urography. Mafi yawan marasa lafiya ba faru koda cuta. An lura kawai kara glomerular tacewa kudi. A mafi tsanani lokuta suna tare tubulopathy da glucosuria, hypokalemia, kuma phosphaturia aminoaciduria (kama da Fanconi ciwo). A wasu lokuta, matasa bikin albuminuria. Sun mutane sun lura na koda gazawar tsanani proteinuria, da karuwa a matsa lamba da kuma raguwa a cikin creatinine yarda, wanda yake saboda interstitial fibrosis da glomerulosclerosis mai da hankali segmental hali. Dukkan wadannan cuta tsokane koda cuta. Girma baƙin ciki zauna a cikin al'ada kewayo.

hanta adenoma

Da suka faru a da yawa marasa lafiya domin wasu dalilai mabambanta. Kamar yadda mai mulkin, suka bayyana a tsakanin zamanai na 10 zuwa shekaru 30. Suna iya zama m, iya zub da jini a cikin adenoma. Wadannan ilimi Scintigram gabatar a matsayin yankunan da rage jari na cikin isotope. duban dan tayi da ake amfani da su gane adenomas. A hali na tuhuma da malignancy yin amfani da mafi m MRI da CT. Su ka damar gano da canji na sarari iyaka na samuwar wani kananan size to ya fi girma isasshe Heart gefuna. Kamar wancan shawarar lokaci-lokaci ji na magani matakan alpha-fetoprotein (hanta ciwon daji cell alama).

Ganewar asali: m nazari

Marasa lafiya auna matakan uric acid, lactate, glucose, hanta enzymes azumi. A jarirai kuma neonates a cikin jini glucose taro bayan wani 3-4-hour azumi rage zuwa 2.2 mmol / lita ko fiye. mai tsawon fiye da hudu, da maida hankali ne kusan ko da yaushe kasa da 1.1 mmol / lita. Da qarancin ruwa da tare da wani gagarumin karuwa a lactate da kuma rayuwa acidosis. Magani yawanci m ko kama madara saboda da sosai babban taro na triglycerides da kuma matakan cholesterol ya karu moderately. Har ila yau, ya lura kayan haɓɓaka aiki na Alt (alanine aminotransferase) da kuma AST (aspartaminotransferazy), hyperuricemia.

tsokanar gwaji

Don bambance tsakanin irin na daga sauran glycogenosis da kuma cikakken tabbatar da dalilin da enzyme aibi a jarirai kuma mazan yara auna matakin na metabolites (m free acid, glucose, uric acid, lactate, ketone jikinsu), hormones (sth (somatotropic hormone), cortisol, adrenaline, glucagon , insulin) da kuma glucose bayan azumi. A binciken da aka za'ayi a cikin wani takamaiman juna. The yaro samun glucose (1.75 g / kg) ciki. Sa'an nan kowane 1-2 hours da jini da aka dauka. A glucose maida hankali ne auna da sauri. Last analysis dauka ba daga baya fiye da awowi shida bayan ingestion na glucose, ko a lokacin da abun ciki ya rage zuwa 2.2 mmol / lita. Kuma gudanar da wani m gwajin da glucagon.

musamman nazarin

A lokacin da hanta biopsies yi. Har ila yau, a bincika glycogen: da abun ciki da aka da yawa ya karu, amma tsari ne a cikin al'ada kewayo. Gudana ma'aunai na glucose-6-phosphatase halakar da kuma dukan hanta microsomes. Sun halaka su da maimaita daskarewa da kuma thawing biopata. A kan bango na glycogen ajiya cuta irin IA aiki ba m, a halakar, a duka ko microsomes a irin ibn - shi ne al'ada a farko da kuma na biyu da ma rage ko ba ya nan.

Gierke ta cuta: Jiyya

Lokacin da glycogen ajiya cuta irin na rayuwa cuta dangantawa da kasa samar da glucose bayyana bayan cin 'yan sa'o'i daga baya. Domin shafe tsawon yunwa cuta tsananta muhimmanci. A wannan batun, da magani daga Pathology an rage wa mafi m nono. Manufar far ne su hana glucose ciki saukad da kasa 4.2 mmol / lita. Wannan shi ne a bakin kofa a wanda stimulates mugunya hormones kontrisulyarnyh. Idan yaro samun dace da isasshen glucose, akwai wani karu a hanta size. Laboratory sigogi a lokaci guda kusa da al'ada, da kuma psychomotor bunkasuwa stabilized, zub da jini vuya.