Pearson's syndrome yog ib yam kab mob tsawg heev uas tshwm sim nws tus kheej thaum tseem me nyuam mos thiab feem ntau ua rau tuag ntxov.
Discovery keeb kwm
Lwm lub npe rau Pearson's syndrome yog congenital sideroblastic anemia nrog exocrine pancreatic insufficiency. Tus kab mob no muaj npe tom qab tus kws tshawb fawb uas tau piav qhia thawj zaug hauv xyoo 1979 - N. A. Pearson. Tus mob no tau lees paub los ntawm kev soj ntsuam mus sij hawm ntev ntawm plaub tus menyuam yaus uas muaj cov tsos mob zoo sib xws: lawv muaj cov kab mob sideroblastic anemia uas tsis teb rau cov qauv kev kho mob, exocrine pancreatic insufficiency, thiab pathology ntawm cov pob txha hlwb.
Thaum xub thawj, cov menyuam tau txais kev kuaj mob sib txawv - Shwachman's syndrome (congenital hypoplasia ntawm pancreas). Tab sis tom qab kev tshawb fawb txog ntshav thiab pob txha pob txha, qhov sib txawv meej tau tshwm sim, uas ua rau Pearson's syndrome nyob rau hauv ib pawg.
Ua rau kab mob
Kev kawm txog qhov ua rau tus kab mob no tau siv li kaum xyoo. Cov kws tshawb fawb caj ces tau tswj xyuas kom pom qhov tsis zoo ntawm caj ces uas ua rau muaj kev faib thiab sib npaug ntawm mitochondrial DNA.
Txawm hais tias tus kab mob no yog caj ces, feem ntau qhov kev hloov pauv tshwm sim tshwm sim, thiab tus me nyuam mob tau yug los ntawm qhov tseeb.niam txiv noj qab nyob zoo. Qee lub sij hawm muaj kev sib raug zoo ntawm qhov muaj ophthalmopathy hauv leej niam thiab kev loj hlob ntawm Pearson's syndrome hauv nws tus menyuam.
DNA qhov tsis xws tuaj yeem kuaj pom hauv cov pob txha pob txha, pancreatic acinocytes, nrog rau hauv cov kabmob uas tsis yog lub hom phiaj tseem ceeb ntawm tus kabmob - ob lub raum, cov leeg nqaij, hepatocytes. Ntawm qhov tod tes, hauv qee cov neeg mob, nyob rau hauv lub xub ntiag ntawm ib qho chaw kuaj mob thiab kuaj daim duab, nws tsis tuaj yeem sau npe hloov pauv hauv mitochondrial DNA.
Nyob rau hauv cov me nyuam mob, muaj cov hlau nyob rau hauv daim siab, sclerosis ntawm glomeruli ntawm ob lub raum, thiab tsim cysts. Qee zaum, myocardial fibrosis tsim, ua rau lub plawv tsis ua haujlwm.
Lub txiav txiav ua kom tsis txaus ntawm lipase, amylase thiab bicarbonates hauv txhua tus neeg mob Pearson tus kab mob. Tus mob no tshwm sim los ntawm atrophy ntawm cov qog nqaij hlav thiab nws cov fibrosis tom qab.
Txoj kev kuaj mob
Nrog kev ntseeg siab, tsuas yog cov kws tshuaj caj ces tuaj yeem kuaj mob tom qab kuaj mitochondrial DNA. Kev kuaj ntshav niaj hnub peripheral kuj tseem ua lub luag haujlwm tseem ceeb: kuaj pom muaj mob macrocytic anemia, neutropenia, thiab thrombocytopenia. Qhov tseem ceeb yog qhov tsis muaj txiaj ntsig los ntawm kev kho mob ntshav qab zib nrog "Cyancobalamin" thiab kev npaj hlau.
Vim vim muaj pob txha pob txha pob txha, qhov txo qis ntawm tag nrho cov hlwb, muaj vacuoles hauv erythroblasts thiab cov tsos ntawm annular sideroblasts tuaj yeem pom.
Cov tsos mob
Txij thaum thawj hnub ntawm tus menyuam lub neejPearson's syndrome tej zaum yuav xav tias. Cov tsos mob ntawm tus kab mob no tshwm sim nyob rau hauv cov me nyuam mos nyob rau hauv daim ntawv ntawm pernicious anemia thiab insulin-dependant diabetes mellitus. Pallor ntawm daim tawv nqaij, tsaug zog, lethargy, raws plab, ntuav ntuav raug pom, tus menyuam nce qhov hnyav tsis zoo. Cov zaub mov yuav luag tsis zom, steatorrhea yog yam ntxwv. Cov tsos mob ntawm ntshav qab zib mellitus tshwm sim, qib ntawm cov piam thaj hauv cov ntshav nce siab, thiab muaj kev nyiam rau acidosis. Kev loj hlob ntawm daim siab, raum thiab lub plawv tsis ua haujlwm.
Qee zaum, ntxiv rau ntshav ntshav, pancytopenia tshwm sim (tsis muaj erythrocytes nkaus xwb, tab sis kuj platelets thiab leukocytes), uas yuav tshwm sim nws tus kheej raws li kev nyiam los ntshav thiab kis kab mob.
Hmoov tsis zoo, cov kws kho mob tseem tsis paub yuav ua li cas tuav Pearson's syndrome. Nws txoj kev kho mob tsis yog tshwj xeeb thiab muab cov txiaj ntsig luv luv xwb.
Anemia tsis teb rau cov qauv kev kho mob thiab yuav tsum tau txhaj ntshav ntau zaus. Txhawm rau txhim kho kev ua haujlwm ntawm lub txiav, cov enzymes raug sau tseg, thiab kev kho infusion yog muab los kho cov kab mob metabolic. Muaj tsawg zaus, kev hloov pob txha pob txha tau ua.
Pearson's syndrome muaj qhov tsis zoo: cov menyuam yaus poob qis hauv kev loj hlob ntawm lub cev, feem ntau tuag ua ntej hnub nyoog ob xyoos. Hauv cov xwm txheej sib cais, cov neeg mob nyob ntev dua ua tsaug rau kev kho kom zoo, tab sis thaum muaj hnub nyoog laus dua, tus kab mob ua rau cov leeg nqaij atrophy, tus yam ntxwv ntawm Kearns-Sayre syndrome.
Kev mob hnyav ntawm cov kab mob thaum lub sijhawmFeem ntau nyob ntawm qhov kev puas tsuaj DNA.
