Pearson chirwere: Zviratidzo neMarapirwo

Pearson kuti chirwere - ichi haiwanzowaniki chaizvo majini chirwere hunoratidza pacharo achiri mucheche, uye kazhinji kacho kunotungamirira vachiri rufu.

History yakawanikwa

Chimwe zita nokuti Pearson kuti chirwere - a vachiberekwa sideroblastic kupererwa neropa pamwe exocrine pancreatic insufficiency. The chirwere inonzi mushure musayendisiti uyo akatanga kurondedzera muna 1979 - N. A. Pirsona. The chirwere yave kuzivikanwa kuburikidza refu pakuongorora mana nevana zvakafanana zviratidzo: vakaona sideroblastic kupererwa, riri haateereri mureza kurapwa, kushaya exocrine pancreatic nerevane zvokurwara kuti mwongo masero.

Pakutanga, vana akaisa zvakasiyana chirwere - Shvahmana syndrome (vachiberekwa hypoplasia pakati rwatata). Asi pashure tikaongorora ropa uye mwongo vari akawanikwa kusiyana pachena, akapa chiitiko kusimbisa chirwere Pearson sorudzi yoga muchikwata.

The zvinokonzera chirwere

Research mukati zvinokonzera hosha akatora makore anenge gumi. Doctors nhaka kwezvinhu vakakwanisa kuwana majini urema inotungamirira weboka uye kuburitsa mufananidzo pamusoro mitochondrial DNA.

Kunyange zvazvo chirwere chacho chichigarwa nhaka, kazhinji mutation sokuti nomuzvarirwo, uye murwere mwana anozvarwa kuti vabereki gwindiri. Dzimwe nguva pane ukama pakati kuvapo kwezvirwere ziso muna mai uye kukura Pearson kuti chirwere ari mwana wake.

DNA zvikanganiso zvinogona kuratidzwa mumwongo atsinotsitah rwatata, uyewo nhengo dzisiri vanonyanyonangwa chirwere - itsvo, mwoyo tsandanyama, hepatocytes. Ukuwo, vamwe varwere pamberi kwese kurapwa uye rabhoritari mufananidzo uye anotadza kunyoresa kuchinja mitochondrial DNA.

Sick vana kuenda simbi kuunganidza ari chiropa, glomerular sclerosis, renal chikofu inotungamirwa. Mune zvimwe zviitiko, zviri kukura myocardial fibrosis, iyo inotungamirira mwoyo kutadza.

Rwatata secretes kukwana yakawanda lipase, amylase uye bicarbonate pavarwere zvose pamwe chirwere Pearson. Atrophy chirwere kunoratidza shwanu rinenge wayo unozotevera fibrosis.

nzira nechirwere

With chivimbo chirwere anogona chete genetics vanachiremba pashure nokuongorora mitochondrial DNA. The rinokosha reDare zvatinosiita kuongorora peripheral ropa: kuziva macrocytic zvakakomba kupererwa, neutropenia uye thrombocytopenia. Chinozikamwa ndiyo kusavapo nezvaizoitwa Mabatirwo kupererwa neropa "cyanocobalamin" uye gadziriro simbi.

Nokuda mwongo ponji anogona kuona kuderera uwandu masero, kuvapo vacuoles nechitarisiko erythroblasts uye iwo sideroblasts.

chirwere zviratidzo

Kubva pamazuva okutanga oupenyu mwana vakafunga Pearson kuti syndrome. Zviratidzo zviri chirwere debut mu vacheche muchimiro pernicious kupererwa, uye jekiseni-nemataundi chirwere cheshuga. Kuchengetwa ganda rakachenuruka, hope, lethargy, manyoka, idzokororo kurutsa, mwana haasi kuwana uremu. Zvokudya zvinenge haana kunyura, vaine steatorrhea. Pane zviratidzo cheshuga, yakawedzera ropa shuga yomuropa, uye pane tsika acidosis. Zvichida kukura hepatic, renal uye mwoyo nokukundikana.

Dzimwe nguva kunze kupererwa, pancytopenia kunoitika (dhefisiti kwete chete erythrocytes asiwo leukocytes uye maplatelet), izvo zvichaita vane tsika ropa uye zvirwere zviri kuda mugove.

Treatment uye fungidziro

Zvinosuruvarisa vanachiremba vachiri handizivi sei kuti ndiwane Pearson syndrome. Kurapa vasiri yakananga uye rinopa chete Migumisiro yenguva pfupi.

Kupererwa neropa hakusi amenable kuti mureza kurapa, uye zvinoda kugara ropa. Anatsiridze pancreatic mabasa ushandiswe mabiko makemikari, uye nokuda nokururamiswa metabolic abnormalities - aizomupa mishonga. Mune zvisingawanzoitiki zviitiko mwongo nokuisazve.

Pearson kuti chirwere ane murombo fungidziro: Vana lag mumashure kwomuviri, vakawanda vanofa vasati makore maviri. Mune zvisingawanzoitiki zvinoitika, varwere vari kurarama kwenguva refu nemhaka zvinobudirira Nokuraramisa kurapa, asi gare gare muupenyu chirwere kunotungamirira tsandanyama atrophy chakanangana chirwere Kearns-Sayre.

The kwokuomerwa hosha hunoenderana ukuru DNA maronda.