Pearson ciwo: Bayyanar cututtuka da kuma Jiyya

Pearson ta ciwo - wannan ne mai matukar rare kwayoyin cutar da ke bayyana kanta a jariri, kuma a mafi yawan lokuta take kaiwa zuwa wani wuri mutuwa.

Tarihi na samu

Wani sunan ga Pearson ta ciwo - wani nakasar sideroblastic anemia da exocrine pancreatic insufficiency. Cutar da ake mai suna bayan da masanin kimiyya ne da farko aka bayyana shi a 1979 - N. A. Pirsona. A ciwo da aka gane ta hanyar dogon kallo na yara hudu tare da kama cututtuka: sun kiyaye sideroblastic anemia, wanda shi ne ba m ga daidaitattun magani, da rashin exocrine pancreatic aikin da Pathology na bargo Kwayoyin.

A farko, da yara saka daban-daban ganewar asali - Shvahmana ciwo (nakasar hypoplasia na pancreas). Amma bayan nazarin jini da bargo ake bayyananne bambance-bambance da aka samu, wanda ya ba da lokaci zuwa haskaka Pearson ta ciwo a matsayin mai raba category.

A Sanadin cutar

Bincike a cikin Sanadin cutar dauki game da shekara goma. Likitoci masana auren su iya samun kwayoyin halitta a aibi da take kaiwa zuwa division da kwafi na mitochondrial DNA.

Ko da yake cutar kwayoyin, yawanci maye gurbi bayyana ne kwatsam, da mãsu haƙuri a haifi jariri zuwa daidai da lafiya iyaye. Wani lokaci akwai dangantaka tsakanin gaban ido cuta a cikin mahaifiyarsa da kuma ci gaban Pearson ta ciwo a ta yaro.

DNA lahani za a iya saukar a cikin bargo, atsinotsitah pancreas, kazalika da gabobin da ba su da babban manufa da cutar - koda, zuciya tsoka, hepatocytes. A daya hannun, wasu marasa lafiya, a gaban hankula na asibiti da kuma awon hoto da kuma kasa yin rajistar canje-canje a cikin mitochondrial DNA.

Marasa lafiya yara faruwa baƙin ƙarfe jari a cikin hanta, glomerular sclerosis, koda mafitsara samuwar. A wasu lokuta, shi ne tasowa na tsokar fibrosis, wadda take kaiwa zuwa zuciya rashin cin nasara.

A pancreas secretes kasa adadin lipase, amylase da bicarbonate a dukan marasa lafiya da cutar Pearson. Atrophy ciwo bayyana gland shine yake da nama da kuma ta m fibrosis.

hanyoyin da ganewar asali

Tare da amincewa da lifiya iya kawai halittar jini likitoci bayan nazarin mitochondrial DNA. A muhimmanci irin rawa da saba bincike na gefe jini: gane macrocytic tsanani anemia, neutropenia da thrombocytopenia. Sananne ne da babu sakamako na lura da anemia "cyanocobalamin", da baƙin ƙarfe shirye-shirye.

Saboda bargo huda iya ganin karu a total number na sel, gaban vacuoles a cikin bayyanar erythroblasts da ringed sideroblasts.

cuta cututtuka

Daga farkon zamanin rayuwa da yaro ana zargin Pearson ta ciwo. Alamun cutar halarta a karon a jarirai a cikin nau'i na pernicious anemia, da kuma insulin-dogara da ciwon sukari. Lura kodadde fata, drowsiness, lethargy, zawo, maimaita amai, da yaro da aka ba samun nauyi. The abinci ne kusan ba tunawa, halin da steatorrhea. Akwai cututtuka da ciwon sukari, ta ƙara jini glucose matakan, kuma akwai yiwuwar za a acidosis. Zai yiwu ci gaban hanta, koda da kuma zuciya rashin cin nasara.

Wani lokaci a Bugu da kari ga anemia, pancytopenia auku (gaira ba kawai erythrocytes amma kuma leukocytes da platelets), wadda za ta da hali ya zub da jini da kuma cututtuka na abin da aka makala rabo.

Magani da kuma hangen nesa

Abin baƙin ciki, da likitoci har yanzu ba su san yadda za a lashe Pearson ciwo. Jiyya na ba-takamaiman da shi na samar da kawai gajere sakamakon.

Anemia ba amenable ga daidaitattun far, da kuma bukatar yawaita jini. Domin inganta pancreatic ayyuka wajabta liyafar enzymes, kuma domin gyara na na rayuwa munanan - jiko far. A rare lokuta wani bargo dashi.

Pearson ta ciwo yana da wani matalauci hangen nesa: yara wanzuwa a cikin jiki ci gaba, mafi mutu kafin shekara biyu. A rare lokuta, marasa lafiya suna zaune ƙara godiya ga tasiri tabbatarwa far, amma daga baya a cikin rayuwata rashin lafiya kaiwa zuwa tsoka atrophy halayyar da ciwo Kearns-Sayre.

The mai tsanani da cuta dogara sun fi mayar a kan mataki na DNA raunuka.