Gierke nechirwere: zvinokonzera, zviratidzo, kurapwa

Glycogen okuchengetera chirwere mhando 1 yakatanga kurondedzerwa muna 1929 Gierke. Hosha rinowanikwa mune chimwe kubva zviuru mazana maviri vachangoberekwa. Zvokurwara inobata zvakafanana vakomana nevasikana. Next, funga sei kuratidza chirwere Gierke ndiko chii kurapa inoshandiswa.

tsananguro

Pasinei pfupi mangwanani kuonekwa, chete muna 1952, Corey paakagadzwa enzayemu kuremara. zvokurwara Nhaka iri autosomal recessive. Gierke chirwere - chirwere pamusoro iyo chiropa masero, uye convoluted tubules itsvo yazara glycogen. Zvisinei, reserves izvi hazvisi kuwanikwa. Izvi zvinoratidzwa kusavapo yomuropa, uye kuwedzera ropa wevasungwa kuti shuga semhinduro glucagon uye epinephrine. Gierke kuti chirwere - chirwere achiperekedzwa hyperlipemia uye ketosis. Izvi zvinhu zviri yo mamiriro mumuviri kushayiwa makabhohaidhiretsi. In chiropa, intestinal zvinyama, itsvo pane yakaderera basa shuga-6-phosphatase (kana hazvisi zvachose).

Mukurwara

Sei Gierke kuti chirwere? The chirwere kunokonzerwa urema ari enzayemu ezvinhu chiropa. Zvachinja kupinda shuga, shuga-6-phosphate. Apo urema akatyoka gluconeogenesis uye glycogenolysis. Izviwo, chinokurwadzai hypertriglyceridemia uye hyperuricemia, lactic acidosis. Chiropa glycogen kuwanda kunoitika.

Glycogen Storage Disease Type I: nemakemikari omuviri

The enzayemu maitiro kuti vatendeuki shuga kupinda shuga-6-phosphate, kuwedzera pachake, pachine subunits zvinenge zvina. Izvi zvinosanganisira, kunyanya zvinosanganisira pamutemo Ca2 (+) - tichisunga mapuroteni remubatanidzwa translocase (transporter mapurotini). The hurongwa rine T3, T2, T1, kuona kuchinja shuga, phosphate uye shuga-6-phosphate kuburikidza endoplasmic reticulum membrane. Kune vamwe zvakafanana mune mhando ane chirwere Gierke vake. Clinic glycogenosis Ib uye Ia akafanana, maererano ichi, kusimbisa chirwere uye ounza chaiwo enzymatic urema akaita chiropa biopsy. Uyewo havawanzoiti basa shuga-6-phosphatase. The musiyano kurapwa kuratidzwa pakati glycogenosis mhando Ia uye Ib rinozivikanwa kuti wokutanga kugara kana vavanongogara neutropenia. In chakakomba kacho kachitanga agranulocytosis. Neutropenia aine dysfunction pamusoro monocytes uye neutrophils. Panyaya iyi, zviri kuwedzera mukana wokuti Candida uye staph zvirwere. Nokuti vamwe varwere pane kuzvimba ari dumbu, akafanana Crohn chirwere.

Zviratidzo zvokurwara

Chekutanga zvinofanira akati kuti achangoberekwa, vacheche uye vana vakuru zvakasiyana akaratidza chirwere Gierke vake. Zviratidzo kuonekwa muchimiro kutsanya yomuropa. Zvisinei, kazhinji kacho vari asymptomatic zvokurwara. Izvi imhaka yokuti vacheche vanopiwa kazhinji zvakakwana uye Zvakanyanya Kunaka Panguva Yepamuviri huwandu shuga. Glycogen Storage Disease Type I (Photos nyaya dzinogona kuwanikwa zvokurapa mabhuku) dzinowanzopiwa chirwere pashure pokuberekwa kwapera mwedzi mishomanana. Mwana uyu nyaya kwakaratidza hepatomegaly uye abdominal nedumbu. nefivha Low-mugiredhi uye dyspnea pasina zviratidzo chirwere kunogona kuenda Gierke chirwere. Zvikonzero ekupedzisira - lactic acidosis nokuda kukwana pakuburitswa shuga uye yomuropa. With kurara usiku refu uye pane kuwedzera nguva zvikamu pakati feedings. Panguva iyoyo akacherekedza zviratidzo yomuropa. nguva yaro nekuomarara zvishoma nezvishoma kuwedzera, izvo zvinozoita kunotungamirira metabolic zvinetso zvakadai systemic.

migumisiro

Kana untreated, kwakaratidzwa kuchinja chitarisiko mwana. Kunyanya, ndivo maitiro tsandanyama uye skeletal zvokudya, anononoka kwomuviri uye kukura. Panewo mafuta deposits pasi ganda. Mwana anotanga unorira murwere ane Cushing kuti syndrome. Hazvina segwapa vachivavhiringidza kukura mumagariro zvishande unyanzvi, kana uropi haana damage kuramba hypoglycemic kurwisa. Kana kutsanya yomuropa zvikaramba uye mwana asingagamuchiri inodiwa uwandu makabhohaidhiretsi, kunonoka kwomuviri uye kukura anova zvakasiyana. Mune zvimwe zviitiko, vana chete mhando I gipoglikenozom kufa nokuda pulmonary neBP. Kana kutyora zviri platelet basa kwakacherechedzwa idzokororo nosebleeds kana ropa mushure mazino kana zvimwe kuvhiyiwa. Pane zvave kuvhiringidzika adhesion uye aggregation pamusoro maplatelet. Uyewo kwakakanganiswa ADP kusunungurwa semhinduro kuonana navo collagen uye epinephrine. Systemic metabolic vachivavhiringidza wakatsamwisa thrombocytopathy kuti haazombotaurwi pashure kurapwa. Inosimudzira renal taped Ultrasound uye excretory urography. Varwere vakawanda regai kuitika renal zvirwere. It rinozivikanwa chete kuwedzera glomerular filtration unodiwa. vari zvikuru kwazvo kacho akaperekedza tubulopathy pamwe glucosuria, hypokalemia, uye phosphaturia aminoaciduria (akafanana Fanconi urwere). Mune zvimwe zviitiko, vachiri kuyaruka vakapemberera albuminuria. Vechiduku vakaona renal kukundikana zvikuru proteinuria, kuwedzera kumanikidza uye vasanyanye creatinine Clearance, izvo imhaka interstitial fibrosis uye glomerulosclerosis zvatichiri segmental hunhu. Vose zvirwere izvi vanotsamwisa renal chirwere. Encombrements chirwatata akaramba inowanzotorwa siyana.

chiropa adenoma

Zvaitika Varwere vazhinji nokuda kwezvikonzero zvakasiyana-siyana. Kazhinji, vanoonekwa pakati pemakore 10 kusvika 30 makore. Vanogona kuva akaipa, ungave ropa kupinda adenoma. dzidzo izvi Scintigram anounzwa nzvimbo kwakaderedza kuunganidza ari isotope. Ultrasound inoshandiswa kuona adenomas. Kana nokufungirana kuna malignancy kushandisa zvavataura MRI uye CT. Vanobvumira kuti kuronda kuchinja pachena miganhu paumbwe chiduku kukura kuti yakakura zvakakwana Blurred kumicheto. Saka akakurudzira nenguva dzirikure nokuyerwa serum kwevari Alpha-fetoprotein (kenza chiropa sero zvechinguvana).

Chirwere: fanira kudzidza

Varwere akayera kwevari uric acid, lactate, shuga, chiropa makemikari nokutsanya. In navacheche uye neonates muropa shuga wevasungwa pashure 3-4-awa achitsanya wakaderedzwa kusvika 2,2 mmol / fő kana kupfuura; imwe nguva kupfuura maawa mana, wevasungwa uri inenge nguva asingasviki 1,1 mmol / fő. Yomuropa achiperekedzwa kuwedzera lactate uye metabolic acidosis. Serum kazhinji ramakore kana sokunge mukaka nokuda mukuru chaizvo wevasungwa pamusoro triglycerides uye remafuta akawandisa mumatunhu kwakawedzera zvine mwero. Vakacherechedzawo enhancement kuti alt (alanine aminotransferase) uye AST (aspartaminotransferazy), hyperuricemia.

kudenhwa yokuedzwa

Kusiyanisa pakati mhando I nezvimwe glycogenosis uye kutsunga yakarurama enzayemu akaremara vacheche uye vana vakuru akayera pamwero metabolites (mafuta vakasununguka acids, shuga, uric acid, lactate, ketone miviri), mahormone (STH (somatotropic kemikari), cortisol, adrenaline, glucagon , jekiseni) uye shuga pashure nokutsanya. Kudzidza rinoitwa ari muenzaniso chaiwo. Mwana anowana shuga (1.75 g / kg) nechomukati. Ipapo maawa 1-2 ose ropa chinobviswa. The shuga wevasungwa kunoyerwa nokukurumidza. Last ongororo kutora papera pane maawa matanhatu pashure ingestion kuti shuga kana kana zvirimo shoma kusvika 2,2 mmol / fő. Uyewo mutambo tsamwisa bvunzo pamwe glucagon.

zvidzidzo Special

Panguva yavo chiropa biopsies anoitwa. Uyewo nezvokumwe glycogen: kwayo kugutsikana zviri zvikuru kwakawedzera, asi nemamiriro iri chakaipa siyana. Kunoramba kuyerwa shuga-6-phosphatase kuparadzwa uye chiropa yose microsomes. Vakaparadza kubudikidza akadzokorora nechando uye thawing biopata. On pakanyorwa glycogen okuchengetera chirwere mhando Ia basa hauna kutsunga kuita kuparadzwa, munyika yose kana microsomes mu mhando Ib - zviri zvinoitika pakutanga uye rechipiri substantially wakaderedzwa kana vasipo.

Gierke chirwere: Treatment

Kana glycogen okuchengetera chirwere mhando I metabolic zvinetso chokuita kukwana kugadzirwa shuga kuoneka pashure kudya maawa mashomanana gare gare. For kwenguva refu nenzara nyonganyonga kwakawedzera yekudyidzana. Panyaya iyi, pakurapa zvokurwara ipfupi kuti kakawanda achiyamwa. Chinangwa yokurapa ndiko kudzivisa shuga kugutsikana anodonhedza pazasi 4.2 mmol / fő. Ndicho pachikumbaridzo panguva iyo zvinoita secretion pamusoro mahormone kontrisulyarnyh. Kana mwana anowana yakakodzera shuga yakakwana, pane kuderera chiropa kukura. Laboratory parameters panguva imweyo pedyo dzose, uye psychomotor kukura uye kukura pazvakagadzikana, ropa nokupera.