Isifo Gierke esithi: oonobangela, iimpawu, unyango

uhlobo lwezifo yokugcina Glycogen 1 echazwe okokuqala ngo-1929 Gierke. Isifo kwenzeka kwenye kumakhulu amabini amawaka kubelekwa. Pathology luchaphazela ngokulinganayo zombini amakhwenkwe kunye namantombazana. Okulandelayo, cinga ukubonakalisa njani isifo Gierke lakhe, loluphi unyango.

Overview

Nangona ukubhaqwa noko, kuphela ngo-1952, Corey yayifakwe enzyme siphene. ngezifo Ifa into autosomal sofuzo. Gierke syndrome - isifo nxamnye apho iiseli isibindi, kunye tubules kwalula kwizintso zizaliswe glycogen. Nangona kunjalo, ezi oovimba azifumaneki. Oku kuboniswa kukungabikho hypoglycemia, kunye nokwanda egazini xi glucose ukuphendula glucagon kunye epinephrine. Gierke kaThixo syndrome - isifo ekhatshwa hyperlipemia kunye ketosis. Ezi fitsha uphawu imo umzimba xa ukuswela carbohydrate. Esibindini, izihlunu isisu, zezintso kukho umsebenzi ophantsi glucose-6-phosphatase (okanye ayikho kwaphela).

Ikhosi kwezifo

Njani Gierke engqondweni? Esi sifo sibangelwa iziphene kwinkqubo enzyme zesibindi. Nokuba litshatshazi, laba glucose, iswekile-6-phosphate. Xa iziphene njenge gluconeogenesis eyaphukileyo glycogenolysis. Oku, kudale hypertriglyceridemia kunye hyperuricemia, lactic acidosis. Sibe zesibindi glycogen kwenzeka.

Glycogen Storage Disease Uhlobo I: ngamachiza

Inkqubo enzyme esiguqula iswekile ibe glucose-6-phosphate, ukongeza ngokwakhe, kusekho subunits ubuncinane ezine. Ezi ziquka, ingakumbi, kuquka ezilawulayo Ca2 (+) - ndibopha protein compound translocase (iiproteni umthuthi). Le nkqubo iqulathe T3, T2, T1, ukuqinisekisa inguqu glucose, phosphate kunye iswekile--phosphate 6 ngokusebenzisa reticulum ndizayo endoplasmic. Kukho ukufana ezithile ngayo iifayile ukuba onesifo Gierke kaThixo. Clinic glycogenosis ib kunye Ia iyafana, kule meko, ukuqinisekisa uxilongo kunye nokuseka isiphako enzymatic ngqo wenza i biopsy isibindi. Kwakhona uphando umsebenzi glucose-6-phosphatase. Umahluko obubonakala zeklinikhi phakathi uhlobo glycogenosis Ia kunye ib okubhaliweyo ukuba neutropenia lokuqala rhoqo okanye idlule. Kwiimeko kakhulu, uqala ukuphuhlisa agranulocytosis. Neutropenia kunye nokuphazamiseka of monocytes kunye neutrophils. Kule nkalo, zanda amathuba zosulelo Candida kunye lwesikhumba. Ngokuba ezinye izigulane kukho kukukrala ethunjini, ezifana nesifo Crohn kaThixo.

iimpawu zokugula

Okokuqala kufuneka kuthiwe sosana, iintsana kunye nabantwana abadala ngokwahlukileyo wabonakalisa isifo Gierke kaThixo. Iimpawu kuvela uhlobo ukudla hypoglycemia. Nangona kunjalo, kwiimeko ezininzi ngezifo nazimpawu. Oku kungenxa yokuba neemveku ukutya rhoqo ngokwaneleyo kunye nemali ngokupheleleyo glucose. Glycogen Storage Disease Uhlobo I (Amafoto lwamatyala zingafunyanwa zonyango iincwadi reference) basoloko ngoxilongo emva kokuzalwa kweenyanga ezimbalwa kamva. Umntwana kulo mzekelo kutyhilwa hepatomegaly kunye ukukhula esiswini. fever elisezantsi grade kunye dyspnea ngaphandle iimpawu zosulelo sivumelekile ukuba sikhaphe isifo Gierke. Izizathu yokugqibela - lactic acidosis ngenxa imveliso engonelanga glucose kunye hypoglycemia. Nge ukulala ebusuku elide kwaye kukho ukwanda kumathuba aphakathi feedings. Ngelo xesha iphawulweyo iimpawu hypoglycemia. ubude bayo nobukhali chu kunyuka, mvisiswano leyo, kwelinye icala, kukhokelela ukuya kwizigulo pathways ezifana zenkqubo.

imiphumela

Ukuba lunganyangwa, ephawulwe utshintsho inkangeleko umntwana. Ngokukodwa, ezi kwimisipha skeletal nokungondleki iimpawu, uphuhliso emzimbeni kade kunye nokukhula. Kukho kwakhona iidipozithi ezityebileyo phantsi kwesikhumba. Umntwana uqala ukuba ivakala umguli lowo Cushing engqondweni. It yokuphazamiseka kuphuhliso lwezakhono zentlalo ephawulekayo zingaphawulwa, ukuba ingqondo konakale ngenxa yokuhlaselwa ephindiwe hypoglycemic. Ukuba ukudla hypoglycemia uyaqhubeka kwaye umntwana akazamkeli imali efunekayo carbohydrate, alibazise kuphuhliso ngokwasemzimbeni kunye nokukhula iba eziphawulekayo. Kwezinye iimeko, abantwana uhlobo I gipoglikenozom kufa ngenxa wegazi miphungeni. Kwimeko yokuhlukunyezwa ye zegazi umsebenzi waphawula nokopha nezolo okanye ukopha emva yamazinyo okanye enye uqhaqho. Kubekho yokuphazamiseka adhesion kunye udibaniso lwe ziiplatelets. Kwakhona uphazanyiswe ADP ukukhululwa njengempendulo uqhagamshelane kunye collagen kunye epinephrine. ukuphazamiseka systemic pathways Bamqumbisa thrombocytopathy ukuba liyalahleka emva konyango. Ukwanda ultrasound duct kwezintso kunye urography excretory. izigulane ezininzi musa ziyenzeka ukuphazamiseka sezintso. Ziphawuleka kuphela ukwandisa izinga product glomerular. Iimeko ezininzi kakhulu zihamba tubulopathy kunye glucosuria, hypokalemia, kunye phosphaturia aminoaciduria (esifana Fanconi syndrome). Kwezinye iimeko, abakwishumi elivisayo wabhiyozela albuminuria. Abantu abatsha egcine ukusilela proteinuria kwezintso eziqatha, ukwanda koxinzelelo ukwehla e imvume creatinine, apho kungenxa abanesigulo Embi kwaye glomerulosclerosis segmental ubhalo focal kunye. Zonke ezi ukuphazamiseka bandiqumbise isifo sezintso. Ubukhulu spleen wahlala kuluhlu yesiqhelo.

isibindi adenoma

Ukuba kwenzeka izigulane ezininzi ezahlukeneyo yezizathu. Ngenxa umthetho, ukuba kuvela phakathi kweminyaka eli-10 ukuya kwengama-30. Baya kuba yingozi, ukuba ukopha zibe adenoma. Ezi Scintigram imfundo thaca njengemimandla yokwehla ukuqokelelana le Isotope. ultrasound isetyenziselwa ukubona adenomas. Kwimeko rhanelwa yobubi usebenzisa MRI ulwazi kunye CT. Amvumela ukuba ukulandelela inguqu imida ecacileyo ukubunjwa ubungakanani obuncinane ukuya elintlangothi ezinkulu ngokwaneleyo imfiliba. Ngoko ke kucetyiswa umlinganiselo ngamaxesha yamanqanaba serum kumagama-fetoprotein (umhlaza wesibindi iseli isiphawuli).

Uxilongo: ukufunda kwenziwe

Izigulane walinganisa amanqanaba uric acid, zincancise, iswekile, isibindi enzyme ukudla. Kwiintsana kunye neonates kwi xi iswekile yegazi emva kokuba ukudla iiyure-3-4 lancitshiswa 2.2 mmol / ilitha okanye ngaphezulu; a ubude ngaphezu kweeyure ezine, uyazikhomba phantse lonk ngaphantsi kwe 1.1 mmol / ilitha. Hypoglycemia sikhatshwe ukwanda okubonakalayo zincancise kunye lactic metabolic. Serum ngokuqhelekileyo enamafu okanye Kubonakala ngathi ubisi ngenxa xi eliphezulu triglycerides namanqanaba cholesterol zanda ngokulinganisela. Kwakhona waphawula nokuphuculwa ALT (alanine aminotransferase) kunye AST (aspartaminotransferazy), hyperuricemia.

uvavanyo nayinto

Ukuze Makangagocagoci phakathi uhlobo kwezinye glycogenosis kunye nokuzimisela oluchanileyo enzyme isiphene kwiintsana kunye nabantwana abadala kulinganiswa umgangatho metabolites (ezinamanqatha asidi ezamahala, iswekile, uric acid, zincancise, imizimba ketone), iihomoni (zezith (hormone somatotropic), cortisol, iadrenaline, glucagon I , insulin) kunye iswekile emva kokuzila ukudla. Uphononongo lwenziwa ngokomfuziselo ethile. Umntwana ufumana glucose (1.75 g / kg) ngaphakathi. Ke zonke iiyure 1-2 igazi sithathwa. Xi glucose ulinganiswa ngokukhawuleza. Uhlalutyo yokugqibela ethathelwe kweeyure ungadlulanga owe ezintandathu emva kokungenisa glucose okanye xa umxholo liye kutsho ku-2.2 mmol / ilitha. Kwakhona yabamba uvavanyo inkanuko kunye glucagon.

izifundo ezizodwa

Ngexesha biopsies zabo isibindi eyenziwa. Kwakhona uphando glycogen: umxholo wayo kakhulu anda, kodwa isakhiwo kuluhlu yesiqhelo. imilinganiselo oluqhubekayo glucose--phosphatase 6 kutshatyalaliswa kunye microsomes zesibindi yonke. Bona kutshatyalaliswa yovalo ngokuphindaphindiweyo kunye thawing biopata. Kwisiqalo lwe uhlobo lwesifo yokugcina glycogen umsebenzi Ia akayi kumiselwa kutshatyalaliswa, yonke okanye microsomes kuhlobo IB - oko abaqhelekileyo kwi yokuqala kwindawo yesibini kakhulu zancitshiswa okanye angekhoyo.

isifo Gierke esithi: Treatment

Xa glycogen uhlobo lwezifo yokugcina I pathways ukuphazamiseka ezinxulumene nemveliso zaneleyo glucose kuvela emva kokudla kweeyure ezimbalwa kamva. Ngokuba indlala elide disorder enomfutho kakhulu. Kulo mba, yonyango ngezifo liye lancitshiswa lokuncancisa rhoqo ngakumbi. Injongo unyango kukuthintela isiqulatho glucose sibe ngaphantsi 4.2 mmol / ilitha. Le umbundu apho lukwakhuthaza secretion hormone kontrisulyarnyh. Ukuba umntwana ufumana iswekile ezaneleyo ngexesha, kukho ukuhla ubukhulu esibindini. parameters Laboratory ngexesha elinye kufutshane eqhelekileyo, kunye nophuhliso lengqondo kunye nokukhula ngcono, ukopha oma.