Pearson syndrome: Zizindikiro ndi Chithandizo

syndrome Pearson wa - ichi ndi chosowa kwambiri majini matenda kumaonekera wakhanda, ndipo nthawi zambiri kumabweretsa imfa oyambirira.

History of anapeza

dzina lina matendawa Pearson - pamenepa kobadwa nako sideroblastic magazi m'thupi ndi exocrine pancreatic insufficiency. Matendawa chikutchedwa wasayansi amene anafotokozedwa koyamba mu 1979 - N. A. Pirsona. syndrome wakhala anazindikira mwa kungophunzira yaitali ana anayi ndi zizindikiro zofanana: anapeza sideroblastic magazi m'thupi, zomwe si kumva mankhwala muyezo, kupanda pancreatic ntchito exocrine ndi kudwala maselo mafupa.

Poyamba, ana kuika matenda osiyana - Shvahmana syndrome (kobadwa nako hypoplasia a kapamba). Koma atafufuza magazi ndi mafupa ndi kusiyana kwakulu anapezeka, amene anapereka nthawi kuunikila syndrome Pearson monga gulu osiyana.

The zimayambitsa matenda

Research mu zimayambitsa matenda anatenga pafupi zaka khumi. Madokotala geneticists anapeza chilema majini chopita magawano ndi mwendo wa DNA kwa mayitirokondiriyoni.

Ngakhale matenda ndi chibadwa, kawirikawiri kusintha zikuoneka zokha, ndipo mwana wodwala anabadwa kwa makolo mwangwiro wathanzi. Nthawi zina pali ubale pamaso pa matenda a maso pakati pa mayi ndi chitukuko cha matenda Pearson mu mwana wake.

zopindika DNA chingathe kuwululidwa mu m'mafupa, atsinotsitah kapamba, komanso ziwalo zimene sizili chandamale waukulu matenda - impso, minofu mtima, hepatocytes. Pa dzanja, odwala ena pamaso pa mmene matenda ndi zasayansi chithunzi ndipo amalephera kulembetsa kusintha mu DNA kwa mayitirokondiriyoni.

ana odwala kupita chitsulo kudzikundikira mu chiwindi, glomerular sclerosis, aimpso chotupa mapangidwe. Mu zina, kusiyana m'mnyewa wamtima fibrosis, imbaenda kulephera mtima.

Kapamba amatulutsa osakwanira kuchuluka kwa lipase, amylase ndi bicarbonate odwala onse ndi matenda Pearson. Manja syndrome kuwawonetsera England minofu ndi fibrosis wake wotsatira.

njira matenda

Ndi matenda chidaliro angakhoze kokha chibadwa madokotala atafufuza DNA kwa mayitirokondiriyoni. Zofunika ntchito za kusanthula mwachizolowezi magazi zotumphukira: kudziwa macrocytic aakulu magazi m'thupi, neutropenia ndi thrombocytopenia. Lodziwika ndi yonena zotsatira za mankhwala a magazi m'thupi "cyanocobalamin" ndi kukonzekera chitsulo.

Chifukwa mafupa puncture kuwona kuchepa mu chiwerengero cha maselo, pamaso pa vacuoles mu maonekedwe a erythroblasts ndi ringed sideroblasts.

zizindikiro matenda

Kuyambira masiku oyambirira a moyo wa mwanayo ndi achifwamba syndrome Pearson a. Zizindikiro za kuwonekera koyamba kugulu matenda makanda mu mawonekedwe a magazi m'thupi zoipa, ndi shuga insulin amadalira. Anaona khungu wotumbululuka, kugona, ulesi, kutsekula m'mimba, kusanza kobwereza, mwanayo si kupeza kulemera. chakudya pafupifupi si odzipereka, yodziwika ndi steatorrhea. Pali zizindikiro za matenda a shuga, kuchuluka misinkhu shuga magazi, ndipo pali chizolowezi acidosis. Mwina chitukuko cha kwa chiwindi, aimpso ndi matenda a mtima.

Nthawi zina kuwonjezera magazi m'thupi, pancytopenia amapezeka (kuchepekedwa osati erythrocytes komanso leukocytes ndi maselo othandiza magazi kuundana), umene ali ndi chizolowezi magazi ndi matenda a ubwenzi gawo.

Kuchiza ndi madokotala ananena zawo

Mwatsoka, madokotala akadali sadziwa mmene tingagonjetsere vuto Pearson. Chithandizo cha si yeniyeni ndipo amatipatsa yekha zotsatira yochepa.

Magazi m'thupi si amenable mankhwala muyezo, ndipo amafuna magazi pafupipafupi. Pakuti kutukula ntchito pancreatic Kwalamulidwa phwando michere, ndi kuwukonza kuvutika kagayidwe kachakudya - kulowetsedwa mankhwala. Nthawi zina ndi mafupa kumuika.

syndrome Pearson uli ndi madokotala ananena zawo osauka: ana kwanthawi kumbuyo mu kukula, ambiri kufa zaka ziwiri. Nthawi zina, odwala tikukhala zikomo yaitali yokonza mankhwala ogwira mtima, koma pambuyo pa matenda kumayambitsa minofu ya manja khalidwe la matenda Kearns-Sayre.

The kukula kwa matenda kumadalira mlingo wa zotupa DNA.