Gierke ọrịa: na-akpata, ihe mgbaàmà, ọgwụgwọ

Glycogen nchekwa ọrịa ụdị 1 mbụ kọwara na 1929 Gierke. The ọrịa emee otu onye n'ime abụọ na narị abụọ na puku mụrụ ọhụrụ. Pathology emetụta dokwara ma ụmụ okoro na ụmụ agbọghọ. Next, tụlee otú na-egosipụta Gierke ọrịa, nke bụ ihe ọgwụ na-eji.

Isi

N'agbanyeghị oge mbụ nchọpụta, naanị na 1952, Corey e arụnyere enzyme nkwarụ. daa ọrịa Nketa bụ autosomal recessive. Gierke syndrome - a ọrịa megide nke imeju mkpụrụ ndụ, na convoluted tubules nke akụrụ jupụtara glycogen. Otú ọ dị, ndị a mee bụ adịghị. Nke a na-egosi site na-anọghị nke hypoglycemia, na-abawanye na ọbara ịta nke glucose omume glucagon na epinephrine. Gierke si syndrome - a ọrịa so site hyperlipemia na ketosis. Njirimara ndị a ji mara nke ala nke ahụ na erughi nke carbohydrates. Na imeju, nsia anụ ahụ, akụrụ e a ala ọrụ nke glucose-6-phosphatase (ma ọ bụ na ọ bụghị mgbe niile).

N'ezie nke ọrịa

Olee otú Gierke si syndrome? The ọrịa e mere site ntụpọ na enzyme usoro nke imeju. Ọ na-eme n'ime glucose, glucose-6-phosphate. Mgbe ntụpọ ka a gbajiri gluconeogenesis na glycogenolysis. Nke a, n'aka nke ya, na-akpalite hypertriglyceridemia na hyperuricemia, lactic acidosis. Imeju glycogen ìgwè emee.

Glycogen Nchekwa Disease Type m: n'ihi mmiri ọgwụ

The enzyme usoro na-atọghata glucose n'ime glucose-6-phosphate, na mgbakwunye na ya onwe ya, a ka nwere dịkarịa ala anọ subunits. A na-agụnye, akpan akpan, na-agụnye usoro iwu Ca2 (+) - nkịtị protein compound translocase (transporter edozi). The usoro nwere T3, T2, T1, huu mgbanwe nke glucose, phosphate na glucose-6-phosphate site endoplasmic reticulum akpụkpọ ahụ. E nwere ụfọdụ myirịta na ụdị nwere Gierke oria. Clinic glycogenosis IB na IA yiri nke ahụ, a na njikọ, iji gosi na nchoputa na iru a kpọmkwem enzymatic nkwarụ rụrụ a imeju biopsy. Ọzọkwa nyochaworo ọrụ nke glucose-6-phosphatase. The dị iche na-adakarị ngosipụta n'etiti glycogenosis ụdị IA na IB na-ahụ kwuru na mbụ mgbe nile ma ọ bụ na-akwụsị akwụsị neutropenia. Na oké ikpe, ọ na-amalite ịzụlite agranulocytosis. Neutropenia esonyere dysfunction nke monocytes na neutrophils. Na nke a, na ọ na-amụba ohere nke candida na staph-efe efe. N'ihi na ụfọdụ ndị ọrịa na e nwere onye mbufụt ke gootu, yiri Crohn oria.

ịrịba ama nke daa ọrịa

Mbụ niile, ọ ga-kwuru na a mụrụ nwa ọhụrụ, ụmụ ọhụrụ na ndị okenye ụmụ dị iche iche na-egosipụta Gierke oria. Mgbaàmà-egosi na ụdị nke na-ebu ọnụ hypoglycemia. Otú ọ dị, ọtụtụ mgbe na-asymptomatic daa ọrịa. Nke a bụ n'ihi na eziokwu na ụmụ ọhụrụ na-nri na-ezuru na ezigbo ego nke glucose. Glycogen Nchekwa Disease Type m (Photos nke ikpe pụrụ ịchọta ọgwụ akwụkwọ) na-chọpụtara mgbe amuchara nwa a ọnwa ole na ole mgbe e mesịrị. The nwa na nke a kpughere hepatomegaly na abdominal nditat. Low-ọkwa fever na dyspnea enweghị ihe ịrịba ama nke ọrịa nwere ike na-eso Gierke ọrịa. Ihe mere nke ikpeazụ - lactic acidosis ruru ka ezughi oke na mmepụta nke glucose na hypoglycemia. Na a ogologo ụra abalị na e nwere ndị na-amụba oge etiti oge n'etiti feedings. N'otu oge ahụ a kara akara mgbaàmà nke hypoglycemia. Ya oge na ogo nta nke nta na-amụba, bụ nke, n'aka nke ya, na-eduga ná metabolic ọrịa ndị dị otú dị ka systemic.

mmetụta

Ọ bụrụ na untreated, akara mgbanwe ọdịdị nke nwa. Karịsịa, ndị e ji mara muscular na skeletal nri, onye na-adịghị anụ ahụ mmepe na uto. E nwekwara abụba ego n'okpuru anụahụ. The nwa-amalite-ada ka onye ọrịa nwere Cushing si syndrome. Ọ na-adịghị akara nsogbu na mmepe nke na-elekọta mmadụ na cognitive nkà, ma ọ bụrụ na ụbụrụ na-adịghị mebiri site ugboro hypoglycemic ọgụ. Ọ bụrụ na-ebu ọnụ hypoglycemia na-adịgide, na nwa adịghị anabata chọrọ ego nke carbohydrates, oge nkịtị mmepe na ibu na-aghọ dị iche iche. Mgbe ụfọdụ, ụmụaka na ụdị m gipoglikenozom ịnwụ n'ihi akpa ume ọbara mgbali. Bụrụ na nke mebiri nke platelet ọrụ hụrụ ntighari nosebleeds ma ọ bụ ọbara na-agba mgbe eze ma ọ bụ ndị ọzọ ịwa. E nwere nsogbu na adhesion na aggregation nke platelet. Ọzọkwa akwusila ADP ntọhapụ omume kpọtụrụ na collagen na epinephrine. Systemic metabolic disturbances kpasue thrombocytopathy na kpamkpam mgbe omume. Mụbara gbasara akụrụ taped ultrasound na excretory urography. Ọtụtụ ndị ọrịa na-adịghị eme gbasara akụrụ ọrịa. Ọ na-e kwuru na nanị na-amụba glomerular filtration ọnụego. The kasị njọ na-ebu tubulopathy na glucosuria, hypokalemia, na phosphaturia aminoaciduria (yiri Fanconi syndrome). Mgbe ụfọdụ, na-eto eto na-eme ememe albuminuria. Na-eto eto na-ahụ gbasara akụrụ odida oké proteinuria, na-abawanye na nsogbu na a ọnụ ke creatinine nwechapụ, nke bụ n'ihi na interstitial fibrosis na glomerulosclerosis Baịbụl hiwere isi n'ebe segmental agwa. All ndị a na-anaghị ekwe akpasu gbasara akụrụ ọrịa. Akụkụ splin nọgidere na nkịtị nso.

imeju adenoma

Ha ime na ọtụtụ ndị ọrịa maka a dịgasị iche iche nke ihe ndị mere. Dị ka a na-achị, ha na-egosi ndị nọ n'agbata afọ 10 na afọ 30. Ha nwere ike ịbụ oké njọ, e nwere ike na-agba ọbara n'ime adenoma. Ndị a akụziri Scintigram-dị ka ebe nke belata ìgwè nke isotope. ultrasound a na-eji iji chọpụta adenomas. Bụrụ na nke ana enyo enyo nke malignancy iji ihe ọmụma MRI na CT. Ha na-ekwe gị Chọpụta mgbanwe nke iwu doro anya nke guzobere a obere size ka a ibu zuru ezu bịara ikiri n'ọnụ ya. N'ihi ya na-atụ aro oge n'ihe nke ọbara etoju nke Alfa-fetoprotein (imeju cancer cell welara).

Diagnosis: amanyere bụ iwu na-amụ

Ọrịa tụrụ etoju nke uric acid, lactate, glucose, imeju enzyme na-ebu ọnụ. Na ụmụ ọhụrụ na neonates n'ime ọbara glucose ịta mgbe a 3-4-hour na-ebu ọnụ na-ebelata ka 2.2 mmol / liter ma ọ bụ karịa; a oge dị ukwuu karịa awa anọ, ịta bụ fọrọ nke nta mgbe ihe na-erughị 1.1 mmol / liter. Hypoglycemia esonyere a ịrịba ama mmụba na lactate na metabolic acidosis. Ọbara-emekarị urukpuru ma ọ bụ na anya dị ka mmiri ara ehi n'ihi na dị nnọọ elu ịta nke triglycerides na cholesterol etoju ụba moderately. Ọzọkwa hụrụ nkwalite nke Alt (alanine aminotransferase) na AST (aspartaminotransferazy), hyperuricemia.

iwe ule

Ka ọdịiche dị n'etiti ụdị m si ọzọ glycogenosis na ezi mkpebi siri ike nke enzyme nkwarụ na ụmụ ọhụrụ na ndị okenye ụmụ tụrụ larịị nke metabolites (ọdụdụ free asịd, glucose, uric acid, lactate, ketone ozu), homonụ (STH (somatotropic hormone), cortisol, adrenaline, glucagon , insulin) na glucose mgbe na-ebu ọnụ. The ọmụmụ a rụrụ na a kpọmkwem ụkpụrụ. The nwa ọkọkpọhi glucose (1.75 g / n'arọ) nime. Mgbe ọ bụla 1-2 awa ọbara-e. The glucose ịta tụrụ ngwa ngwa. Ikpeazụ analysis e dịghị mgbe e mesịrị karịa awa isii mgbe ingestion nke glucose ma ọ bụ mgbe ọdịnaya ebelata ka 2.2 mmol / liter. Ọzọkwa ẹkenịmde a-akpali agụụ mmekọahụ ule na glucagon.

Special ọmụmụ

N'oge ha na-imeju biopsies rụrụ. Ọzọkwa nyochaworo glycogen: ya ọdịnaya nke ukwu mụbara, ma Ọdịdị bụ na nkịtị nso. Na-aga n'ihu nha nke glucose-6-phosphatase ebibi ma dum imeju microsomes. Ha bibiri ugboro ugboro kefriza na thawing biopata. Na ndabere nke glycogen nchekwa ọrịa ụdị IA ọrụ na-adịghị kpebisie ike na-ebibi, n'ozuzu ma ọ bụ microsomes na ụdị IB - ọ bụ nkịtị na ndị mbụ na nke abụọ n'ụzọ belata ma ọ bụ na-anọghị.

Gierke ọrịa: Ọgwụgwọ

Mgbe glycogen nchekwa ọrịa ụdị m metabolic ọrịa metụtara na ezughi oke mmepụta nke glucose apụta mgbe eri a awa ole na ole mgbe e mesịrị. N'ihi na ruo ogologo oge agụụ aghara Noa budata. Na nke a, na ọgwụgwọ nke daa ọrịa na-ebelata ka ọzọ Ugboro ara. Ihe mgbaru ọsọ nke ọgwụ bụ iji gbochie glucose content tụlee n'okpuru 4.2 mmol / liter. Nke a bụ ọnụ ụzọ na nke na-akpali secretion nke homonụ kontrisulyarnyh. Ọ bụrụ na a na nwa na-akawanye na-adọ ezu glucose, e nwere a ọnụ ke imeju size. Laboratory kwa n'otu oge nso nkịtị, na psychomotor mmepe na ibu Nọsi'ike, na-agba ọbara kpamkpam.