Matenda Gierke akuti: zimayambitsa, zizindikiro, chithandizo

matenda Glycogen yosungirako mtundu 1 anafotokozedwa koyamba mu 1929 Gierke. Matendawa amapezeka mu limodzi la ana thuu handiredi sauzande. Kudwala amakhudza mofanana anyamata ndi atsikana. Kenako, ganizirani kusonyeza matenda Gierke, umene ndi zimene mankhwala ntchito.

mwachidule

Ngakhale kudziwika ndi oyambirira okha mu 1952, Corey anakhazikitsidwa enzyme chilema. kudwala Madalitso ndi autosomal recessive. Gierke syndrome - matenda imene maselo chiwindi, ndi tubules convoluted impso wodzazidwa glycogen. Komabe, malo amenewa palibe. Tikutero chifukwa analibe hypoglycemia, ndi kuwonjezeka mu ndende magazi a shuga poyankha glucagon ndi Epinephrine. Gierke ndi matenda - matenda limodzi ndi hyperlipemia ndi ketosis. zizindikiro zimenezi ndi khalidwe la dziko la thupi pa akusowa chakudya. Mu chiwindi, m'mimba minofu, impso pali ntchito otsika a shuga-6-phosphatase (kapena si konse).

Mayendedwe a matenda

Kodi syndrome Gierke chiyani? Matendawa amayamba ndi zopindika dongosolo enzyme chiwindi. Likukhalira shuga, shuga, 6-mankwala. Pamene zopindika monga gluconeogenesis wosweka ndi glycogenolysis. Zimenezi, amakwiya hypertriglyceridemia ndi hyperuricemia, lactic acidosis. Chiwindi glycogen kudzikundikira amapezeka.

Glycogen yosungirako Disease Mtundu I: sayansi

Dongosolo enzyme otembenuka shuga shuga-6-mankwala, kuwonjezera pa yekha, pali subunits zinayi. Zikuphatikizapo, makamaka monga zolimbana Ca2 (+) - mapuloteni pawiri translocase (transporter mapuloteni) chikugwirabe. dongosolo lili T3, T2, T1, kuonetsetsa kusintha kwa shuga, phosphate ndi shuga, 6-mankwala mwa endoplasmic reticulum Kakhungu. Pali ena angafanane mitundu amene ali matenda Gierke a. Clinic glycogenosis Ib ndi Ia ali ofanana, mu nkhani imeneyi, kutsimikiza matenda ndi kukhazikitsa yeniyeni enzymatic chilema anachita ndi biopsy chiwindi. Komanso ankafufuza ntchito ya shuga-6-phosphatase. Kusiyana mawonetseredwe matenda pakati glycogenosis mtundu Ia ndi Ib amatchuka kuti poyamba zonse kapena chosakhalitsa neutropenia. Zikavuta, iwo amayamba kukhala agranulocytosis. Neutropenia limodzi ndi kukanika kwa monocytes ndi neutrophils. Pa nkhani imeneyi, izo zikuchulukirachulukira mosavuta matenda candida ndi staph. Kwa ena odwala kumeneko ndi kutukusira m'matumbo, ofanana ndi matenda amene amatupitsa.

Zizindikiro za kudwala

Choyamba ziyenera ananena kuti ana akhanda, makanda ndi ana okulirapo mosiyana akuwonetseredwa matenda Gierke a. Zizindikiro kuonekera mu mawonekedwe a kusala hypoglycemia. Komabe, nthawi zambiri ndi asymptomatic kudwala. Ichi ndi chifukwa chakuti makanda imayambira zambiri zokwanira ndi mulingo woyenera kuchuluka kwa shuga. Glycogen yosungirako Disease Mtundu I (Photos milandu angapezeke mu mabuku mankhwala Buku) Kawirikawiri matenda atabadwa miyezi ingapo. The mwana Pankhaniyi anaulula hepatomegaly ndi kukulitsa m'mimba. Low kalasi malungo ndi dyspnea popanda zizindikiro za matenda amathanso ayende matenda Gierke. Chifukwa yotsirizira - lactic acidosis chifukwa kupanga osakwanira shuga ndi hypoglycemia. Ndi tulo yaitali usiku ndipo pali kuwonjezeka intervals nthawi pakati feedings. Pa nthawi yomweyo amalembedwa zizindikiro za hypoglycemia. Kutalika kwake ndi kuwuma pang'onopang'ono kuonjezera, amene, zingathandize kuti matenda kagayidwe kachakudya monga zokhudza zonse.

zotsatira

Ngati Popanda kuchitapo kanthu, amalembedwa kusintha mu maonekedwe a mwanayo. Makamaka, ndi khalidwe akulu ndi chigoba kutupikana, pang'onopang'ono kukula kukula. Palinso mafuta madipoziti pansi pa khungu. The mwana amayamba kumveka ngati wodwala amene ali syndrome Cushing a. Iwo unalibe chisokonezo chitukuko cha luso chikhalidwe ndi chidziwitso, ngati ubongo si kuonongeka ndi kuukira mobwerezabwereza hypoglycemic. Ngati kudya hypoglycemia amalimbikira ndi mwana salandira chofunika kuchuluka kwa chakudya, akuchedwa kukula ndi kukula amakhala osiyana. Nthawi zina, ana ndi mtundu Ine gipoglikenozom kufa chifukwa oopsa m'mapapo mwanga. Ngati kuphwanya wa kupatsidwa zinthu za m'mwazi ntchito anaona nosebleeds kobwereza kapena magazi pambuyo opaleshoni mano kapena zina. Pakhala chisokonezo guluu wolimba ndi loitanirana cha othandiza magazi kuundana. Komanso akusokoneza ADP kumasulidwa poyankha funsani ndi kolajeni ndi Epinephrine. Zokhudza zonse chisokonezo kagayidwe kachakudya chikwiyire thrombocytopathy kuti Mwamsanga pambuyo chithandizo. Kuchuluka aimpso zikujambulidwa ultrasound ndi excretory urography. odwala ambiri sizichitika matenda aimpso. Iwo amatchuka kokha kuonjezera ndalama glomerular kusefera. The Zikavuta kwambiri ndi limodzi tubulopathy ndi glucosuria, hypokalemia, ndi phosphaturia aminoaciduria (ofanana syndrome Fanconi). Nthawi zina, achinyamata chikondwerero albuminuria. Achinyamata ndasunga aimpso kulephera proteinuria kwambiri, akuchuluka mu kuthamanga ndi kuchepa creatinine chilolezo, ndilo chifukwa fibrosis interstitial ndi glomerulosclerosis focal segmental khalidwe. Onse a matenda amenewa zoyambitsa matenda aimpso. Makulidwe ndulu anakhalabe mu osiyanasiyana yachibadwa.

chiwindi adenoma

Zidzachitika odwala ambiri zifukwa zosiyanasiyana. Monga ulamuliro, iwo amaoneka a zaka zapakati pa zaka 10 mpaka 30. Iwo akhoza kukhala zilonda, akhoza magazi mu adenoma. Izi Scintigram maphunziro kuperekedwa monga madera yafupika kudzikundikira isotope lapansi. ultrasound ntchito kuti azindikire adenomas. Mu nkhani ya kukayikitsa chotupa chija ntchito kwambiri nkhani Kujambula ndi CT. Iwo amakulolani mme- kusintha kwa malire a mapangidwe kukula ang'onoang'ono ndi akuluakulu m'mbali mokwanira amaona. Choncho tikulimbikitsidwa nthawi muyeso wa milingo seramu wa alpha-fetoprotein (khansa chiwindi selo chikhomo).

Matendawa: kuphunzira kuvomerezedwa

Odwala anayeza Kuchuluka kwa asidi uric, lactate, shuga, chiwindi michere kudya. Makanda ndi neonates mu shuga magazi ndende pambuyo 3-4 maola kusala kusanduka 2.2 mmol / lita kapena zambiri; ndi nthawi kuposa maola anayi, ndende ndi pafupifupi nthawi zonse pasanathe 1.1 mmol / lita. Hypoglycemia limodzi ndi kuwonjezeka kwambiri lactate ndi kagayidwe kachakudya acidosis. Seramu zambiri mitambo kapena zikuwoneka ngati mkaka chifukwa ndende wapatali wa triglycerides ndi milingo mafuta kuchuluka mwapang'ono. Anatinso kuwongola wa alt (alanine aminotransferase) ndi Ast (aspartaminotransferazy), hyperuricemia.

akatiputa kuyezetsa

Kusiyanitsa pakati pa mtundu Ine ku glycogenosis ena ndi mtima molondola enzyme chilema makanda ndi ana okulirapo anayeza mlingo wa metabolites (mafuta zidulo free, shuga, asidi uric, lactate, ketone matupi), mahomoni (STH (somatotropic timadzi), tochepa, zikuwonjezereka masiku ano, glucagon , insulin) ndi shuga atatha kusala kudya. phunziro ikuchitika chitsanzo yeniyeni. Mwanayo shuga (1.75 g / kg) mkati. Lililonse maola 1-2 magazi amatengedwa. The shuga ndende chimaonekera msanga. kusanthula Last anatengedwa palibe pasanafike asanu maola pambuyo ingestion shuga kapena pamene zili ali utachepa kwa 2.2 mmol / lita. Imachitikanso mayeso zotenga ndi glucagon.

maphunziro Special

Pa chiwindi biopsies awo anachita. Komanso ankafufuza glycogen: wokhutira ndi mmene kuchuluka, koma bwinjalo mu osiyanasiyana yachibadwa. miyezo kopitirira shuga-6-phosphatase anawonongedwa ndi lonse chiwindi microsomes. Iwo anawonongedwa ndi yozizira koopsa mobwerezabwereza ndi thawing biopata. Pa maziko a glycogen yosungirako matenda mtundu Ia ntchito si anatsimikiza kuwonongedwa, athunthu kapena microsomes mu mtundu Ib - sizachilendo woyamba ndi wachiwiri zayamba yafupika kapena kwina.

matenda Gierke akuti: Chithandizo

Pamene glycogen mtundu matenda yosungirako Ine kagayidwe kachakudya matenda kugwirizana ndi kupanga osakwanira shuga kuonekera patatha kudya maola angapo. Pakuti njala yaitali matenda itakula kwambiri. Pa nkhani imeneyi, chithandizo cha kudwala ndi yafupika yoyamwitsa pafupipafupi. Cholinga cha mankhwala ndi kuteteza zili shuga akutsikira m'munsimu 4.2 mmol / lita. Izi pakhomo pa zomwe kumapangitsa katulutsidwe wa mahomoni kontrisulyarnyh. Ngati mwana afika yake yokwanira shuga, pali kuchepa kukula chiwindi. magawo Laboratory nthawi yomweyo pafupi mwakale, ndi chitukuko psychomotor ndi kukula okhazikika, magazi kusiyiratu.