Mate o Gierke: take, tohu, maimoatanga

Glycogen rokiroki momo mate 1 i whakaahuatia tuatahi i roto i 1929 Gierke. Puta ana te mate i roto i tetahi i roto i o e rua rau mano hou. pānga māuiuitanga rite e rua tamaroa e tamahine. Next, whakaaro pehea ki te whakaatu mate o Gierke, i te mea he aha te therapy whakamahia te.

Overview

Ahakoa te kite ngā wawe, anake i roto i te 1952, i tāuta Corey whākōkī koha. Ko autosomal ngoikore māuiuitanga Tupu. Gierke syndrome - he mate ki ai nga pūtau ate, me tubules ore o whatukuhu ki tonu glycogen. Heoi, e kore e wātea ana i enei rahui. tohua ana tēnei e te ngaro o te suka, me he hua i roto i te kukū toto o te kūhuka i roto i te whakautu ki te glucagon me epinephrine. syndrome o Gierke - he mate tahi e te hyperlipemia me ketosis. Ko āhuatanga o te āhua o te tinana i hē o te warowaihā enei āhuatanga. I roto i te ate, kiko intestinal, tākihi reira ko te mahi iti o te kūhuka-6-phosphatase (ranei ko reira kore i te katoa).

Ko te akoranga o te mate

Pehea he syndrome o Gierke? meinga ana te mate e hē i roto i te pūnaha whākōkī o te ate. Huri i te reira ki te kūhuka, kūhuka-6-Phosphate. A, no te mea kohakore, ka rite ki te gluconeogenesis whati, me te glycogenolysis. Tenei, i roto i te tahuri, whakaoho hypertriglyceridemia me hyperuricemia, acidosis lactic. puta te whakaeminga ate glycogen.

Glycogen Storage mate Momo ahau: matūora

Ko te pūnaha whākōkī e faafariu te kūhuka ki te kūhuka-6-Phosphate, i roto i te tua ki ia, i reira he tonu i te iti rawa e wha subunits. Ko ētahi o ēnei, i roto i ngā, ngā ture Ca2 (+) - here pūmua pūhui translocase (pūmua taraka). Kei roto i te pūnaha T3, T2, T1, whakarite i te huringa o te kūhuka, Phosphate me kūhuka-6-Phosphate i roto i te membrane kiriuwhi. He etahi ngā ōritenga i roto i nga momo e kua mate a Gierke. Hauora glycogenosis Ib, me he rite Ia, i roto i tenei hononga, ki te whakaū i te tātaritanga me te whakatū i whakamana i te koha enzymatic pau te unuhanga ate. whakawakia ano e te mahi o te kūhuka-6-phosphatase. Ko te rerekētanga i roto i te mau faaiteraa haumanu i waenganui i te momo glycogenosis Ia ko Ib tuhia te e te neutropenia tamau rangitahi ranei tuatahi. I roto i ngā take kino, haamata te reira ki te whakawhanake agranulocytosis. Neutropenia tahi e pōrearea o monocytes me neutrophils. I roto i tenei whakaaro, kei te whakanui ake i te reira i te tūponotanga o te Candida me staph mate. Hoki te tahi mau tūroro i reira he he mumura i roto i te punuatuna, rite ki te mate o Crohn.

tohu o te māuiuitanga

Tuatahi o te katoa me mea ai e i roto i te hou, kohungahunga, me ngā tamariki pakeke rerekē whakakitea mate o Gierke. puta Tohu i roto i te puka o te nohopuku e suka. Heoi, i roto i te nuinga o te wā he māuiuitanga asymptomatic. Ko e tika ana ki te meka i kohungahunga e whangai maha nui me te nui ikeiketanga o te kūhuka tenei. Glycogen Storage mate Momo ahau (ka taea Photos o te wā e kitea i roto i ngā pukapuka tohutoro rata) e maha pāngia i muri i whanau i te marama torutoru i muri mai. Te tamaiti i roto i tenei take whakakitea hepatomegaly me whakarahi puku. kia hoki iti-māka kirika, me te dyspnea kahore tohu o mate tahi mate Gierke. Ko te take mo te whakamutunga - acidosis lactic tika ki te iti hanga o te kūhuka, me te e suka. Ki te moe o te roa te po, me te reira e te whakanui ake wa wā i waenganui i kai ai. I te wa ano tohua tohu o e suka. Ko tōna roanga, me te pakeke āta whakanui i, e, i roto i te tahuri, arata'i ki disorders pūkoro pērā i nahanaha.

pānga

Ki te kore maimoatia, tohua huringa i roto i te ahua o te tamaiti. I roto i ngā, ko te pohokore uaua, me te kōhiwi āhuatanga, puhoi whanaketanga tinana, me te tupu. He hoki putunga ngako i raro i te kiri. haamata te tamaiti rite te manawanui e kua ki te tangi syndrome o Cushing. E kore e tohua te reira i raruraru i roto i te whanaketanga o ngā pūkenga pāpori me te hinengaro, ki te kahore te te roro pakaru e whakaeke hypoglycemic hia. Ki te nohopuku e suka tonu me kore e te tamaiti ia farii i te nui e hiahiatia ana o te warowaihā, whakaroa i te whanaketanga ā-tinana, me te riro motuhake tupu. I roto i ētahi wā, tamariki ki momo gipoglikenozom mate ahau e tika ana ki te takawhita pūkahukahu. I roto i te take o te ofatiraa o te mōtepe mahi kitea nosebleeds recurrent toto ranei i muri i tafa niho atu ranei. He kua raruraru i roto i te adhesion me te whakawhāititanga o platelets. aukati ano tuku ADP i whakautu ki te whakapā atu ki te collagen me epinephrine. whakapataritari nahanaha raruraru pūkoro thrombocytopathy e riro i muri i maimoatanga. Nui haere ultrasound mauherea tākihi me te urography puha. e kore e te nuinga o tūroro tupu disorders tākihi. Kei te kï hoki ake i anake auau filtration glomerular. E haere tahi ana te take tino nui tubulopathy ki glucosuria, hypokalemia, me phosphaturia aminoaciduria (rite ki Fanconi syndrome). I roto i ētahi wā, whakanuia taiohi albuminuria. iwi Young kua kite kore proteinuria nui täkihi, he hua i roto i te pēhanga me te hekenga i roto i te creatinine whakawātea, i te mea e tika ana ki te kakakīrehe interstitial me glomerulosclerosis pūāhua segmental rahi. Katoa o enei disorders whakapataritari mate tākihi. noho āhuatanga kōateate i roto i te whānuitanga noa.

adenoma ate

puta ratou i roto i te tūroro maha mo te maha o ngā take. Ka rite ki te tikanga, puta ratou ki waenganui o nga tau o te 10 ki te 30 tau. Ka taea e kia ratou mārere, kia toto ki adenoma. aroaro enei Scintigram mātauranga rite wāhanga o haaputuputuraa iti o te kanoirite. whakamahia te ultrasound te ki te kitea adenomas. I roto i te take o te māharahara o te repara te whakamahi i MRI atu kōrero, me te CT. tukua ratou ki a koe i ahu mai i te huringa o mārama rohe o hanganga o te rahi iti ki nui te taha makona te peroo. Ko te kupu inenga wā o ngā taumata serum o Arepa-fetoprotein (ate mate pukupuku tohu pūtau) tūtohutia.

Tātaritanga: ako whakahauanga

Tūroro whanganga taumata o mua, lactate, kūhuka, whākōkī ate nohopuku. I roto i nga kohungahunga, me neonates i roto i te kukū toto kūhuka i muri i te nohopuku 3-4-haora iti ki te 2.2 mmol / rita atu ranei; he roanga nui ake i wha haora, ko tata tonu te kukū iti iho i te 1.1 mmol / rita. E suka tahi e te hua nui i roto i lactate me acidosis pūkoro. Serum te tikanga kapua titiro rite te waiu ranei e tika ana ki te kukū tiketike rawa o ngā pāhare me ngā taumata cholesterol nui haere tika. kitea hoki te whakareinga o te ALT (alanine aminotransferase) me AST (aspartaminotransferazy), hyperuricemia.

whakamātautau whakapataritari

Hei te tītore i momo ahau i te tahi atu glycogenosis me faaotiraa tika o te koha paru i roto i nga kohungahunga, me ngā tamariki pakeke whanganga taumata o metabolites (fatty waikawa free, kūhuka, waikawa uric, lactate, tinana ketone), hormones (takiwā (taiki somatotropic), cortisol, Adrenaline, glucagon , taiāki huka) me te kūhuka i muri i nohopuku. kawea te ako i roto i roto i te tauira motuhake. whiwhi te tamaiti kūhuka (1.75 g / kg) roto. Katahi nga 1-2 haora tangohia te toto te. whanganga te kukū kūhuka te hohoro. tātari whakamutunga tangohia e kore i muri i te ono haora i muri i ingestion o te kūhuka i ranei ka kua heke te ihirangi ki te 2.2 mmol / rita. puritia hoki te whakamātautau whakaputa ki glucagon.

akoranga motuhake

I roto i to ratou biopsies ate whakamana. whakawakia ano glycogen: kua tino nui haere ona ihirangi, engari ko te hanganga i roto i te whānuitanga noa. inenga haere tonu o te kūhuka-6-phosphatase ngaro me microsomes ate katoa. whakangaromia ratou e mīti toutou me te hukapapa, biopata. I runga i te whakamārama o te glycogen rokiroki momo mate mahi Ia kore e whakaritea i roto i huna, i roto i te katoa microsomes i roto i te momo Ib ranei - he reira noa i roto i te tuatahi, me te i roto i te tuarua nui iti ngaro ranei.

mate o Gierke: Treatment

A, no te glycogen momo mate rokiroki pūkoro ahau disorders e pā ana ki te iti hanga o te kūhuka puta i muri i te kai i te tahi haora i muri. Hoki hemokai auroa tino kaha te whakararuraru,. I roto i tenei whakaaro, heke te maimoatanga o te māuiuitanga e ki whāngai ū atu auau. Ko te whāinga o te therapy ko ki te ārai i makaka ihirangi te kūhuka i raro 4.2 mmol / rita. Ko te paepae i ai whakaongaonga te secretion o hormones kontrisulyarnyh tenei. Ki te whiwhi te tamaiti wā rawaka kūhuka, i reira he he heke i roto i te rahi ate. tawhā taiwhanga i te wa taua tata ki noa, me te whanaketanga whakamātau tinana me te tupu ähuareka, te toto riro.