Gierke ka maʻi: mea, lalau mai, symptoms, lapaʻau

Glycogen pūnaewele maʻi type 1 Ua hōʻike mua i ka 1929 Gierke. I ka maʻi i loko o ia lŘlŘ kekahi mai o nā haneri tausani nā pēpē. Pathology e loli ai i like nā keiki a me nā kaikamāhine. Next, noonoo pehea e hoike Gierke ka maʻi, i ka mea Inc ua hoʻohana 'ia.

Overview

I loko nō o ka kŘpa a kakahiaka nui ka loaʻaʻana, wale i loko o ka makahiki 1952, Corey Ua hoʻouka kekahi'ūhū kina. pathology hooilina mea autosomal recessive. Gierke maʻi pale - he maʻi e ku e ia i ke ake keena, a me convoluted tubules o nā puʻupaʻa piha glycogen. Eia naʻe, i kēia mau me ke koe nō i loaʻa. Keia ua hōʻikeʻia hoʻi i ka wa e kaawale aku o hypoglycemia, a me ka ulu i loko o ke koko o ka lehulehu monakō koko ma muli o ke glucagon a me ka epinephrine. Gierke ka maʻi pale - he maʻi pū ma ka hyperlipemia a me ka ketosis. Kēia mau hiʻona e ano o ka moku'āina o ke kino ma deficiency o carbohydrates. Ma ke akepaa, intestinal'aʻaʻa, hakuʻala he mea he haahaa haʻawina o ka monakō koko-6-phosphatase (paha ia mea,ʻaʻole i pau).

I ka holo ana o ka maʻi

Pehea o Gierke ka maʻi pale? I ka maʻi ua kena ae la ia e mā ma ka'ūhū'ōnaehana o ke akepaʻa. Ua huli i loko o monakō koko, monakō koko-6-posapahate. I ka mā me ka gluconeogenesis pepe a me ka glycogenolysis. Kēia, ma ka huli, alaila hoonaukiuki aku la hypertriglyceridemia a me ka hyperuricemia, lactic acidosis. Ke ake glycogen hoʻomāhuahua ia lŘlŘ.

Glycogen pūnaewele maʻi Type I: biochemistry

Ke'ūhū'ōnaehana i pio monakō koko i loko o monakō koko-6-posapahate, ma ka hou ia ia iho, he mea nō ma ka liʻiliʻi eha subunits. Mau nā, ma ka nui, nā hoʻokonukonu Ca2 (+) - ka paa kumuʻiʻo hui translocase (transporter nā polokina). Ka'ōnaehana he T3, T2, T1, kaulike i ka loli o ka monakō koko, posapahate a me ka monakō koko-6-posapahate ma ka endoplasmic reticulumʻili lahilahi. Aia i kekahi mau mea like i loko o nā 'ano i loaʻa Gierke ka maʻi. Ke Kalinika glycogenosis Ib a me Ia mea like, ma keia pili, e hookupaa i kaʻike, a kukulu iho la lakou i kūlike loa enzymatic kina hana he ake biopsy. Kekahi hoʻokolokolo i ka ha awina o ka monakō koko-6-phosphatase. Ke koena unuhi i loko o lapaʻau hoike ana ma waena o glycogenosis type Ia a me Ib ua kaulana i ka mea mua a eia i ole transient neutropenia. I loa hoopii, e hoʻomaka e hoʻomōhala agranulocytosis. Neutropenia pu ma dysfunction o monocytes a me neutrophils. Ma keia manao, ka mea, ua mahuahua ka likelihood o candida a me ka staph nā mea palahēhē. No kekahi hoʻomanawanui iki mai he mea ka li nui i loko o ka gut, like ia Crohn ka maʻi.

na hoailona o ka pathology

Mua o nā mea a pau e pono e olelo mai ia i loko o ke keiki, na kamalii uuku, a 'oi keiki okoa hoike Gierke ka maʻi. Symptoms hou i loko o ka palapala o ka hookeai ana au, hypoglycemia. Eia naʻe, ma ka hapanui o na hihia i asymptomatic pathology. O ke kumu ho i ka mea i i hanai pinepine lawa na kamalii uuku, a me ka pono nui o ka monakō koko. Glycogen pūnaewele maʻi Type I (Photos o ka hihia hiki ke loaʻa ma ka 'inikua pili buke) e pinepine diagnosed ma hope o ka hānau he mau mahina ma hope. Ke keiki i loko o keia hihia hōʻike hepatomegaly a me abdominal hoʻonui. Low-papa kuni, a me ka dyspnea me na hoailona o ka maʻiʻaʻai i kekahi pu Gierke maʻi. Ke kumu no ka hope - lactic acidosis ma muli o ka lawa ole? Iecaianoaaiiuo o ka monakō koko a me ka hypoglycemia. Me ka lōʻihi po ka hiamoe, a ma laila i ulu manawaʻanuʻu waena, e ai ana. I ka Ia manawa ia symptoms o hypoglycemia. Kona lōʻihi like 'ole a me ka oolea i nā māhuahua, a, ma ka huli, hiki aku ai i metabolic kāna hana e like me systemic.

waiwai

Inā untreated, ia loli ma ke ano o ke keiki. I 'ana, eia nae ke ano muscular a me ka skeletal malnutrition, he ahonui physical kūpono' ana a me ka ulu ana. Aia mau no hoi momona hoʻokomo kālā ma lalo o kaʻili. Ke keiki hoʻomaka e hookani, e like me ka hoomanawanui ka mea Cushing ka maʻi pale. Ua UaʻAʻole ia haunaele i loko o ke ana o nā lawelawe a me ka cognitive mākau, ina ua wela ka lolo ma ka hana hou 'ia hypoglycemic ho'āhewa wale. Inā e hookeai ana au hypoglycemia pilikia a me ke keiki, aole i loaa i ka koi dala o carbohydrates, hookaulua i physical kūpono 'ana a me ka ulu lilo okoa. Ma kekahi hihia, na keiki me ka 'ano au gipoglikenozom make ma muli o ka pulmonary hypertension. I Ina o ka 'aʻe' ana o platelet kuleana pili i malama recurrent nosebleeds a kahe ana ke koko ma hope o kahua niho 'ole' ē aʻeʻoki kino. Aia ua i ka haunaele ma ka mea pīlali a me ka aggregation o platelets. No hoi o Nyos ADP kala ana ma muli o ka hoʻokaʻaʻike me ka collagen a me ka epinephrine. Systemic metabolic haunaele hoʻonāukiuki thrombocytopathy i nalo hope lapaau. Hoomahuahua ae la lakouʻaʻa puʻuwai leki ultrasound a me excretory urography. Loa nā mea maʻi e ole e hiki maiʻaʻa puʻuwai kāna hana. Ua Ua kaulana wale hoonui glomerular kānana kōmi. Ka loa loa na hihia i komo pū 'tubulopathy me glucosuria, hypokalemia, a me ka phosphaturia aminoaciduria (like i Fanconi maʻi pale). Ma kekahi mau hihia, nā pōkiʻi kaulana albuminuria. Young kanaka i malamaʻaʻa puʻuwai e hemahema loa proteinuria, he hoomahuahua i loko o ka puʻuwai, a me ka emi ana ma ka creatinineʻae, i mea ku pono i ka interstitial fibrosis a glomerulosclerosis mea nui segmental külana. A pau o kēia mau kāna hana hoʻonāukiukiʻaʻa puʻuwai maʻi. Ana spleen i koe i loko o ka maʻamau laulā.

ake adenoma

Ka mea ana i na mea he nui nā mea maʻi i kekahiʻano o nā kumu. E like me ka rula,ʻikeʻia ka mea, ma waena o nā makahiki o ka 10 a hiki i 30 makahiki. Ka mea hiki e malignant, e ke kahe ana ke koko i loko o adenoma. Mau hoʻonaʻauao Scintigram imua i mau mea o ka hoemi hoʻomāhuahua o ka kālaiōewe. ultrasound ua hoʻohana 'ia e huai ae adenomas. I Ina o ka hoʻohuoiʻia o ka malignancy me ka hoʻohana 'oi informative MRI a me ka HI. Ka mea, ae oe, e kumumea i ka hou 'ana o akaka palena o ka ho okumu ana o kekahi mea uuku ka nui a hiki i ka nui i lawa blurred lua penei. Pela paipai papa'āweʻaweʻa kemika ana o ka lāʻau lapaʻau pae o Alpha-fetoprotein (aeea ake maʻi 'aʻai peni mäka).

ʻike,: OAXA study

Hoʻomanawanui iki mai ana pae o uricʻakika, lactate, monakō koko, akepaʻa nā'ūhū hookeai. Ma na kamalii uuku a me neonates i loko o ke koko monakō koko lehulehu ma hope o ka 3-4-hora ka hookeai hoemi i 2.2 mmol / hano a oi; ka lōʻihi like 'ole oi aku mamua o eha hora, i ka lehulehu Ua kokoke mau emi o 1.1 mmol / hano. Hypoglycemia pu ma ka nui mahuahua ma lactate a me ka metabolic acidosis. Lāʻau lapaʻau 'ana ao a nānā me ka waiu aie i ka lehulehu kiʻekiʻe loa o triglycerides a me ka naʻokoko pae mahuahua moderately. I malama holomua o ka Alt (alanine aminotransferase) a me AST (aspartaminotransferazy), hyperuricemia.

hoonaukiuki ana ikea ai

E differentiate ma waena o 'ano au mai nā glycogenosis a me ka pololei ka manao o ka'ūhū hewa i loko o na kamalii uuku, a' oi na keiki ana kiʻekiʻe a metabolites (momoma noa nāʻakika, monakō koko, uricʻakika, lactate, ketone kino), hormones (Mahele Ewalu (somatotropic hōmona), cortisol, adrenaline, glucagon , insulina) a me ka monakō koko ma hope o ka hookeai wale no. Ke kuka nei lakou ua lawe mai i loko o ka maopopo kumu. Ke keiki loaʻa monakō koko (1.75 g. / Kg) ma loko. A laila,ʻo kēlā kanaka 1-2 hola ua ia i ke koko. Ka monakō koko lehulehu ua anaia mai ka manawa koke. Hope Ka Ikepili ia i hope ma mua o eono hola ma hope o 'ai, inu o ka monakō koko a me ka wā o ka maʻiʻo i ua hoʻemi i 2.2 mmol / hano. No hoi e paa ana ia i ka provocative hoao me glucagon.

Special haʻawina

Ma kā lākou akepaʻa biopsies hanaia. Kekahi hoʻokolokolo glycogen: kona maʻiʻo ua nunui, a mahuahua nui, akā, ke 'ole i loko o ka maʻamau laulā. Mākau alu ana o ka monakō koko-6-phosphatase luku a me ka ake microsomes. Ka mea i luku ai i ka hai ke kūpaleʻana a me ka thawing biopata. Ma ke kāʻei kua o ka glycogen pūnaewele maʻi type Ia ha awina ka i manao i luku, ma ka a pau, a me microsomes ma ke 'ano Ib - ia mea maʻamau i loko o ka mua, a ma ka lua kūpono kou hoemi paha kahi e.

Gierke ka maʻi: iapaau ana

I ka glycogen pūnaewele maʻi type au metabolic kāna hana pili me ka lawa ole? Iecaianoaaiiuo o ka monakō koko ikea ma hope o kaʻaiʻana i kekahi mau hola ma hope. No ka hooloihi ae i pololi kāna hanaʻoi loa me ka nui loa. Ma keia manao, ua hoemi ia i oi pinepine breastfeeding ka lapaau ana o ka pathology. Ka pahuhopu o ka Inc mea e pale aku monakō koko maʻiʻo kulu lalo o ka 4.2 mmol / hano. 'O kēia ka paepae ma i stimulates ka secretion o hormones kontrisulyarnyh. Inā he keiki loaʻa 'āwīwī lawa monakō koko, he mea he emi i ake nui. Keʻena hoʻokolohua kiko'î a ma ka ia manawa kokoke i ka maʻamau, a me ka psychomotor? Acaeoey a me ka ulu stabilized, kahe ana ke koko nalo.