Isifo Gierke sika: izimbangela, izimpawu, ukwelashwa

Glycogen isitoreji isifo uhlobo 1 achazwa ngokokuqala 1929 Gierke. Lesi sifo kwenzeka oyedwa ezinsaneni ayizinkulungwane ezingamakhulu amabili. Pathology kuthinta ngokulinganayo kokubili abafana namantombazane. Ngokulandelako, cabangela indlela sibonakalise isifo Gierke sika okuyikhona yokwelapha isetshenziswa.

Uhlolojikelele

Naphezu ukuthola kuqhathaniswa ekuqaleni, kuphela ngo-1952, Corey wamiswa enzyme isici. zokugula Ifa kuyinto autosomal esikhubazayo. Gierke syndrome - isifo ngokumelene lapho amaseli isibindi, futhi tubules convoluted yezinso egcwele glycogen. Nokho, lezi reserves azitholakali. Lokhu kuboniswa ukungabi khona kahle kungakhuphula izinga likashukela, futhi ukwanda okuhlushwa igazi glucose ekuphenduleni glucagon futhi epinephrine. Gierke Syndrome - isifo ephelezelwa hyperlipemia futhi ketosis. Lezi zici isici isimo umzimba ukuntula carbohydrate. Esikhathini isibindi, izicubu emathunjini, izinso kukhona umsebenzi ongaphakeme glucose-6-phosphatase (noma akusiyo nhlobo).

Inkambo isifo

kuyinto Gierke Syndrome kanjani? Lesi sifo sibangelwa yokulimala uhlelo enzayimu esibindi. It uphendulela ibe yi-glucose, zikashukela-6-phosphate. Lapho ubuthakathaka gluconeogenesis ephukile glycogenolysis. Lokhu, kwenza abantu bakuphathe hypertriglyceridemia futhi hyperuricemia, lactic acidosis. Ukubuthelela isibindi glycogen kwenzeka.

Glycogen Isitoreji Izifo Uhlobo mina: biochemistry

Uhlelo enzyme iguqula glucose zikashukela-6-phosphate, ngaphezu yena, kusekhona subunits okungenani ezine. Lezi zihlanganisa, ngokukhethekile, zihlanganisa zokulawula Ca2 (+) - ngibopha amaprotheni kwakwakhe translocase (Transporter amaprotheni). Uhlelo iqukethe i-T3, T2, T1, ukuqinisekisa ushintsho glucose, phosphate kanye glucose-6-phosphate ngokusebenzisa endoplasmic reticulum ulwelwesi. Kukhona ukufana ezithile izinhlobo ukuthi ine isifo Gierke sika. Umtholampilo glycogenosis Ib futhi Ia iyafana, kule uxhumano, ukuqinisekisa ukuxilongwa kanye ukusungula isici eqondile enzymatic wenziwa a biopsy isibindi. Futhi wenza uphenyo umsebenzi glucose-6-phosphatase. Umehluko ukubonakaliswa emitholampilo emkhatsini glycogenosis uhlobo Ia futhi Ib Kuyaqapheleka ukuthi neutropenia kuqala njalo ekhaya. Ezimweni ezimbi kakhulu, kuba ucala kutfutfukisa agranulocytosis. Neutropenia ephelezelwa ukungasebenzi kwekhono monocytes futhi neutrophil. Kule ndaba, zanda amathuba Candida futhi staph izifo. Kwezinye iziguli kukhona ukuvuvukala esiswini, efana isifo Crohn.

izimpawu zokugula

Okokuqala kumele uthe kuzalwa, izinsana nezingane ezindala ehlukile wabonakaliswa isifo Gierke sika. Izimpawu avele ifomu ukuzila ukudla kahle kungakhuphula izinga likashukela. Nokho, ezimweni eziningi kukhona zokugula asymptomatic. Lokhu kungenxa yokuthi izinsana ezidla njalo ngokwanele kanye nenani elilungile glucose. Glycogen Isitoreji Izifo Uhlobo mina (Izithombe amacala ingatholakala yezokwelapha izincwadi) bavame kutholakala ukuthi uphethwe yini ngemva kokuzalwa ngemva kwezinyanga ezimbalwa. Ingane kulesi simo wembula hepatomegaly futhi ukwandisa besisu. Low-grade imfiva kanye dyspnea ngaphandle izimpawu zokutheleleka futhi ungase uhambisane Gierke isifo. Izizathu yokugcina - acidosis lactic ngenxa ukukhiqizwa enganele glucose futhi kahle kungakhuphula izinga likashukela. Nge ukulala isikhathi eside ebusuku futhi kukhona okwandisa zinkathi phakathi feedings. Ngesikhathi esifanayo imakwe izimpawu ka kahle kungakhuphula izinga likashukela. ubude bayo nobukhali ukwandisa kancane kancane, lapho yena, kuholela iziyaluyalu umzimba ezifana letindzala.

imiphumela

Uma ungatholi ukwelashwa, imakwe izinguquko ukubukeka ingane. Ikakhulukazi, kukhona ukungondleki isici kwemisipha ne lwamathambo, kancane ukuthuthukiswa ngokomzimba nokukhula. Kukhona futhi imali fat ngaphansi kwesikhumba. Ingane iqala izwakala nesineke onesifo Cushing Syndrome. It is hhayi imakwe yokuphazamiseka ukuthuthukiswa kwamakhono omphakathi kanye engqondweni yethu, uma ubuchopho kabana ukuhlaselwa hypoglycemic ngokuphindaphindiwe. Uma kokuzila kahle kungakhuphula izinga likashukela iqhubeka kanye ingane ongawamukeli lemali edingekayo carbohydrate, uyephuza ekuthuthukiseni ngokomzimba ukukhula uba ahlukile. Kwezinye izimo, izingane uhlobo mina gipoglikenozom ngife ngenxa nomfutho wegazi ophezulu yamaphaphu. Uma ukwephula ka platelet umsebenzi waphawula umongozima yansukuzonke noma ukopha emva kokuhlinzwa zamazinyo noma nezinye. Sekube yokuphazamiseka adhesion futhi aggregation platelet. Futhi iphazamiseke Adp ukukhululwa ekuphenduleni uxhumane ne-collagen futhi epinephrine. Lefundo thuthuva umzimba sokucasuka thrombocytopathy ukuthi ubalekela emva kokwelashwa. Ukwandiswa kwezinso ultrasound aqoshiwe futhi urography excretory. Iziguli eziningi azenzeki iziyaluyalu kwezinso. Kuyaqapheleka ukwandisa kuphela glomerular filtration isilinganiso. Amacala olunzima ahambisana tubulopathy nge glucosuria, hypokalemia, futhi phosphaturia aminoaciduria (efana Fanconi syndrome). Kwezinye izimo, intsha kugujwa albuminuria. Abantu abasha ngilugcinile kwezinso ukwehluleka proteinuria ezinzima, ukwanda ingcindezi futhi ukwehla creatinine imvume, okuyinto ngenxa cystic interstitial kanye glomerulosclerosis ebalulekile segmental uhlamvu. Zonke yalezi zinkinga avuse isifo so-renal. Ubukhulu ubende lahlala uhla evamile.

isibindi adenoma

Bona kwenzeke in iziguli eziningi ze-yezizathu ezihlukahlukene. Njengomthetho, zivela abaneminyaka ephakathi kwengu-10 kuya ku-30. Zingaba yingozi, kungenzeka ukopha ku adenoma. Lezi Scintigram imfundo inikezwe njengoba izindawo wayenemfuyo encishisiwe ye IKhompyuthaYami. ultrasound isetshenziswa ukuthola adenomas. Endabeni ka izinsolo umdlavuza usebenzisa i-MRI ngaphezulu ulwazi kanye CT. Bavumela ukulandelela ushintsho kwemingcele ecacile ye kumiswa usayizi encane elikhulu imiphetho ngokwanele esilufifi. Ngakho Kunconywa nesilinganiso zesikhathi amazinga serum alpha-fetoprotein (nomdlavuza wesibindi cell marker).

Ihlahlubo: cwaningo saziso

Iziguli kulinganiswa amazinga uric acid, lactate, ushukela egazini, isibindi enzyme ukudla. Ngo izinsana neonates e emakamu kwegazi glucose ngemva kokuzila ukudla angu-3-4 sehliselwe 2.2 mmol / ilitha noma ngaphezulu; ubude amahora angaphezu kuka-amane, emakamu cishe njalo esingaphansi 1.1 mmol / ilitha. Kahle kungakhuphula izinga likashukela ephelezelwa nokwanda okuphawulekayo lactate futhi lactic umzimba. Serum ngokuvamile esinamafu noma libukeka ubisi ngenxa emakamu eliphezulu kakhulu triglyceride namazinga cholesterol anda ngokulinganisela. Futhi waphawula nekusita ALT (alanine aminotransferase) kanye AST (aspartaminotransferazy), hyperuricemia.

sicasulwa ukuhlolwa

Ukuze uhlukanise phakathi uhlobo mina evela kweminye glycogenosis nokuzimisela olunembile yokuphambana enzyme kwezinhliziyo zezinsana nezezingane amadala kulinganiswa ezingeni metabolites (ama-fatty acid khulula, glucose, uric acid, lactate, emizimbeni ketone), ama-hormone (STH (i-hormone somatotropic), cortisol, i-adrenalin, glucagon , insulin) kanye glucose ngemva kokuzila ukudla. Lolu cwaningo wenziwa iphethini ethize. Ingane ithola glucose (1.75 g / kg) ngaphakathi. Khona-ke njalo emahoreni 1-2 igazi esithathwayo. I lokuhlushwa glucose kukalwa ngokushesha. ukuhlaziywa Kugcine amahora kungakapheli eziyisithupha ngemva ukungenisa glucose noma lapho okuqukethwe yehlile ku 2.2 mmol / ilitha. Futhi aphethwe ukuhlolwa inkanuko nge glucagon.

izifundo ezikhethekile

Phakathi biopsies yabo isibindi kwenziwa. Futhi uphenyo glycogen: okuqukethwe kwalo kakhulu anda, kodwa isakhiwo ungaphakathi uhla evamile. izilinganiso eqhubekayo glucose-6-phosphatase babhujiswe futhi microsomes isibindi sonke. Bashisa ngu okokuqandisa okuphindaphindiwe incibilikiswa biopata. On isizinda glycogen isitoreji isifo uhlobo Ia umsebenzi akunqunywa e ubhujiswe, iphelele noma microsomes e uhlobo Ib - kungokwemvelo yokuqala futhi kwesibili kakhulu encishisiwe noma sahlukene nalo.

isifo Gierke sika: Ukwelashwa

Lapho glycogen uhlobo isifo isitoreji mina umzimba iziyaluyalu elihlobene ne ukukhiqizwa enganele glucose avele emva kokudla amahora ambalwa kamuva. Ukuze yokulamba isikhathi eside disorder kwaqina kakhulu. Kule ndaba, ukwelapha zokugula kuyehla kube ibele njalo. Umgomo yokuyelapha ukuvimba lokho okuqukethwe glucose lehla ngezansi 4.2 mmol / ilitha. Lena embundwini lapho kuvusa uketshezi hormone kontrisulyarnyh. Uma ingane iyithole ngesikhathi esifanele glucose eyanele, kukhona ukwehla ngobukhulu isibindi. Laboratory imingcele ngesikhathi esifanayo eduze evamile, nokuthuthukiswa lengqondo nokukhula uhlaliseke, ukopha iphele.