Cockayne Syndrome yog ib yam kab mob tsis tshua muaj caj ces, lwm yam hu ua Neil-Dingwall kab mob. Ntawm nws lub hauv paus, nws yog qhov tsis zoo hauv kev txhim kho ntawm lub paj hlwb, uas yog tus cwj pwm los ntawm kev laus ntxov ntxov ntawm tus neeg, dwarfism, tawv nqaij tawv nqaij, tsis pom kev thiab hnov lus.
Definition
Cockayne syndrome yog ib qho kab mob autosomal recessive neurodegenerative uas tshwm sim los ntawm kev ua txhaum ntawm DNA kho mechanism. Cov neeg mob zoo li no tsis muaj zog, lawv muaj kev nkag siab rau lub teeb vim yog pathology ntawm qhov pom kev tsom xam, lawv muaj kev cuam tshuam ntawm lub paj hlwb, nrog rau kev ua txhaum ntawm kev loj hlob ntawm ib lossis tag nrho cov kabmob sab hauv. Cov kev hloov no cuam tshuam nrog kev degradation sai thiab dav ntawm cov teeb meem dawb.
Cov menyuam yaus uas muaj tus mob no feem ntau nyob tau li kaum xyoo, tab sis muaj tsawg zaus ntawm lawv mus txog rau cov neeg laus. Cov kws tshawb fawb tuaj yeem sau npe qhov kev hloov pauv ntawm cov khoom siv caj ces tau pom hauv tus mob no, tab sis kev sib raug zoo ntawm kev puas tsuaj thiab kev kho mob tshwm sim tseem yog qhov tsis paub.
Study history
Cockayne Syndrome muaj npe tom qab 20th-xyoo pua tus kws kho mob Askiv EdwardCockayne. Nws thawj zaug ntsib thiab piav txog tus kab mob no xyoo 1936. Kaum xyoo tom qab ntawd, lwm qhov ntawm nws cov ntawv tau tshaj tawm, mob siab rau qhov pathology.
Tus kab mob tau txais nws lub npe thib ob ua tsaug rau kev ua haujlwm ntawm ob tus poj niam: Maria Dingwall thiab Katherine Neill, uas tau tshaj tawm lawv cov kev soj ntsuam ntawm tus menyuam ntxaib uas muaj cov tsos mob zoo ib yam li cov neeg mob Cockayne. Tsis tas li ntawd, lawv tau sib piv nrog lwm qhov nosology - progeria, uas yog tus cwj pwm los ntawm kev kho mob zoo sib xws.
Yog vim li cas
Kev tshawb fawb qhia li cas txog qhov tshwm sim ntawm tus kab mob xws li Cockayne Syndrome? Nws ua rau dag hauv kev puas tsuaj rau loci ntawm ob lub noob - CSA thiab CSB. Lawv yog lub luag haujlwm rau cov qauv ntawm cov enzymes koom nrog hauv kev kho cov DNA puas.
Muaj ib txoj kev xav uas tsis xws luag tsuas yog cuam tshuam rau kev kho cov noob caj noob ces. Cov lus no tuaj yeem piav qhia qhov tseeb tias, txawm tias muaj kev nkag siab zoo rau lub teeb ultraviolet, cov neeg uas muaj kab mob no tsis kis mob qog noj ntshav.
Kuj tseem muaj cov kab mob sib xyaw, thaum qhov kev puas tsuaj kuj tseem nyob hauv XPB qhov chaw (D lossis G). Tom qab ntawd cov tsos mob neurological koom nrog lub ntsiab tshwm sim ntawm tus mob.
Shapes
Cockayne syndrome, raws li qhov xwm txheej thiab qhov chaw ntawm cov noob puas, tuaj yeem muab faib ua plaub yam.
- Thawj hom lossis classic. Nws yog tus cwj pwm los ntawm kev yug me nyuam ntawm morphologically li qub. Cov tsos mob ntawm tus kab mob tshwm sim thawj ob peb xyoos ntawm lub neej. Kev hnov lus thiab pom kev tsis zoolub peripheral, thiab tom qab ntawd lub hauv nruab nrab lub paj hlwb, pib raug kev txom nyem ua ntej, mus rau atrophy ntawm lub paj hlwb cortex, txawm hais tias nws tsis yog ib qho tseem ceeb raws li nyob rau hauv lwm yam ntaub ntawv. Ib tug neeg tuag ua ntej hnub nyoog nees nkaum.
- Hom thib ob ntawm pathology tuaj yeem kuaj tau thaum yug los. Tus kws kho mob neonatologist qhia txog kev txhim kho tsis muaj zog ntawm lub paj hlwb, tsis muaj qhov yuav tsum tau ua thiab kev cuam tshuam rau stimuli. Cov menyuam yaus tuag ua ntej hnub nyoog xya xyoo. Daim ntawv no tseem hu ua Peña-Chocair syndrome. Cov neeg mob muaj qhov txo qis ntawm myelination thiab calcification ntawm lub paj hlwb.
- Nyob rau hauv hom thib peb ntawm tus kab mob, tag nrho cov tsos mob tsis tshua muaj tshwm sim, thiab lawv qhov kev tshwm sim tau pom tom qab tshaj li thawj lossis thib ob. Tsis tas li ntawd, cov tib neeg uas muaj qhov txawv txav no tuaj yeem muaj sia nyob mus rau cov neeg laus.
- YCombined Cockayne Syndrome. Qhov laj thawj ntawm caj ces ntawm tus mob no yog vim qhov tseeb tias ntxiv rau kev puas tsuaj rau cov enzymes reparative, tus me nyuam muaj chaw kho mob ntawm xeroderma pigmentosum.
Clinic
Cockayne's syndrome pom tau li cas thiab pom tau li cas? Ib daim duab ntawm cov menyuam yaus no tuaj yeem ua rau cov poj niam zoo siab heev, thiab tsis yog txhua tus kws kho mob tuaj yeem xav txog lawv. Tus me nyuam muaj kev loj hlob qeeb mus txog dwarfism nrog kev ua txhaum ntawm qhov sib npaug ntawm lub cev thiab cov ceg. Cov tawv nqaij daj ntseg, vim hnub ci yog qhov teeb meem rau cov neeg mob zoo li no, nws sib sau ua ke hauv wrinkles thiab folds, hyperpigmentation, nti thiab lwm yam cim ntawm kev laus tshwm sim thaum ntxov. Nyob rau tib lub sij hawm, lawv yog heev resistant rau siabQhov kub thiab txias, hlwv thiab kub hnyiab dhau yuav luag yam tsis muaj kab.
Lub qhov muag loj, poob qis, muaj qhov pom kev tsis pom kev vim kev hloov pauv ntawm lub retina (hauv daim ntawv ntsev thiab kua txob) thiab atrophy ntawm lub paj hlwb. Qee qhov xwm txheej, retinal detachment raws lub periphery yog ua tau. Daim tawv muag tsis kaw kiag li. Nystagmus tuaj yeem ua tau, uas yog, kev txav ntawm lub qhov muag ntawm sab mus rau sab lossis los ntawm sab saum toj mus rau hauv qab. Tsis tas li ntawd, kev mob tuag tes tuag taw feem ntau pom thaum cov menyuam kawm ntawv tsis hloov lawv txoj kab. Tus me nyuam yog lag ntseg thiab muaj qhov txawv txav ntawm cov pob txha mos ntawm lub auricles.
Lub paj hlwb ntawm pob txha taub hau tsis zoo, lub puab tsaig sab sauv loj heev. Flexion contractures thiab lwm yam kab mob neurological tsim nyob rau hauv cov pob qij txha. Tus me nyuam poob qis hauv kev loj hlob ntawm kev txawj ntse.
Diagnosis
Cov tshuaj niaj hnub tsis tuaj yeem teb cov lus nug: leej twg muaj Cockayne syndrome ntau dua, txij li qhov kev hloov pauv yog qhov taw qhia thiab qhov kev xav rau nws tsuas yog yog tias muaj kab mob zoo sib xws twb tau ntsib hauv tsev neeg. Tab sis, raws li txoj cai, cov niam txiv ntawm proband tsis paub txog qhov ua ntej.
Rau kev pom zoo, kuaj thiab ntsuas ntsuas ntsuas tau ua tiav. Hauv kev tsom xam dav dav ntawm cov zis, koj tuaj yeem pom cov ntsiab lus ntawm cov protein me ntsis, hauv cov ntshav yuav muaj qhov txo qis hauv cov tshuaj hormones thymus, uas yog lub luag haujlwm rau kev loj hlob thiab kev loj hlob ntawm tus menyuam. X-ray ntawm pob txha taub hau yuav qhia calcifications nyob rau hauv lub hlwb.
Los ntawm cov kev tshawb fawb tshwj xeeb, kev siv biopsy ntawm lub paj hlwb sural, uas qhia txog kev ua txhaum ntawm myelination. Thaum tus neeg mob lub hlwb raug irradiated nrog ultraviolet lub teebmuaj qhov rhiab heev rau nws cov teebmeem. Kawm txog tus nqi ntawm DNA thiab RNA kho tom qab kev puas tsuaj tuaj yeem ua kom pom tseeb ntawm tus kab mob.
Rau kev kuaj mob perinatal, nws tsim nyog siv PCR txhawm rau txheeb xyuas cov kab mob genome puas.
Pathology
Muaj cov kab mob tshwj xeeb ntawm cov kab mob hauv nruab nrog cev, raws li Cockayne's syndrome tuaj yeem txiav txim siab ntawm ntu. Qhov ua rau ntawm cov kev hloov no yog txuam nrog kev ua txhaum ntawm kev loj hlob ntawm lub paj hlwb nyob rau hauv lub cev xeeb tub thiab kev puas tsuaj ntawm lub paj hlwb tom qab yug me nyuam.
Tus kws kho mob autopsy tau tshawb pom lub hlwb me me, uas muaj atherosclerotic hloov pauv cov hlab ntsha, nrog rau cov ntaub so ntswg thickening vim lawv impregnation nrog calcium crystals thiab fibrin. Cov hemispheres tshwm sim mottled vim discoloration nyob rau hauv cov cheeb tsam demyelinated. Kuj tseem muaj cov yam ntxwv hloov pauv hauv lub paj hlwb peripheral, nyob rau hauv daim ntawv ntawm kev cuam tshuam kev cuam tshuam, kev loj hlob ntawm pathological glial hlwb.
Kev kho mob
Kev kho mob tshwj xeeb rau pab pawg neeg mob no tsis tau tsim kho. Txhawm rau zam kev yug me nyuam nrog cov kab mob zoo sib xws, cov txij nkawm uas muaj kev pheej hmoo yuav tsum tau txais kev kho mob caj ces ua ntej cev xeeb tub. Tsis tas li ntawd, koj tuaj yeem ua amniocentesis thawj peb lub hlis ntawm cev xeeb tub kom paub tseeb tias tus menyuam noj qab haus huv.
Ua li no, nws yog txaus rau irradiate lub hlwb nyob rau hauv cov kua amniotic nrog ib koob ntawm ultraviolet hluav taws xob. Yog ibTus neeg pabcuam hauv lub chaw kuaj mob qhia tau tias muaj kev nkag siab ntau dhau thiab ua kom lub sijhawm rov zoo, qhov no qhia tau hais tias muaj kev pom zoo ntawm Cockayne's syndrome.
