Tubular sclerosis (los yog Bourneville's disease) yog ib yam kab mob uas tsis tshua muaj caj ces. Tus kab mob manifests nws tus kheej nyob rau hauv daim ntawv ntawm benign qog nyob rau hauv ntau cov ntaub so ntswg thiab lub cev. Txhais los ntawm Latin tuber txhais tau tias "loj hlob, o." Thawj thawj zaug nyob rau hauv nruab nrab ntawm lub xyoo pua 19th, tus Fabkis neuropathologist Bourneville tau muab ib daim duab kho mob ntawm no anomaly, uas yog vim li cas nws tau txais nws lub npe. Thaum tus kab mob cuam tshuam rau lub paj hlwb, lub plawv, lub raum, lub ntsws, lub qhov muag, cov neoplasms tshwj xeeb tshwm sim ntawm daim tawv nqaij. Nrog rau kev kuaj mob raws sijhawm, kev kho mob tshwm sim tam sim ntawd, uas tiv thaiv kev txhim kho ntawm cov teeb meem.
Kev piav qhia tus kab mob
Tus kab mob no cuam tshuam rau txiv neej ib nrab ntawm cov pej xeem thiab poj niam, thiab nrog tib zaus. Nrog rau kev kis tus kab mob, nws tsis pom tam sim ntawd, tab sis nyob rau hauv ib xyoos lossis thaum hluas. Tsuas yog ib feem peb ntawm tuberous sclerosis yog tshwm sim los ntawm ib yam kab mob, nyob rau hauv lwm yam mob tshwm simqhov tshwm sim ntawm spontaneous, unpredictable genetic mutations. Kev puas tsuaj rau lub paj hlwb yog qhov tseem ceeb ntawm tus kab mob. Cov yam ntxwv tshwm sim feem ntau yog convulsions, hlwb retardation, deviations los ntawm tus qauv ntawm tus cwj pwm, thiab ib tug txo nyob rau hauv kev txawj ntse.
Muaj cov qog ntawm retina thiab optic paj hlwb, uas ua rau txo qis hauv kev pom. Muaj kev hloov pauv hauv cov hlab plawv nrog kev tsim cov qog nyob rau hauv cov leeg tuab. Tus kab mob no yeej ib txwm nrog los ntawm kev hloov ntawm daim tawv nqaij. Pigmented me ntsis tshwm nyob rau ntawm lub ntsej muag thiab nraub qaum, thaj chaw ntawm cov tawv nqaij dermis sawv tawm, periungual fibromas thiab plaques daim ntawv. Cov chaw dawb tshwm rau ntawm cov plaub muag, pob muag thiab cov plaub hau. Yog tias koj xav tias muaj tus kab mob, koj yuav tsum sab laj nrog kws kho mob tam sim ntawd thiab kuaj xyuas kom pom tseeb kom txo tau qhov kev pheej hmoo ntawm ntau yam teeb meem.
Ua rau kab mob
Qhov laj thawj tseem ceeb ntawm tuberous sclerosis yog kev hloov pauv ntawm cov noob caj noob ces ntawm lub cuaj thiab kaum rau ntawm chromosomes yam tsis muaj qhov yuav tsum tau pom ua ntej. Yog li ntawd, muaj kev ua txhaum ntawm kev tsim cov proteins: hamartin thiab tuberin, uas yog lub luag haujlwm rau kev faib tawm ntawm tes thiab kev loj hlob. Qhov no ua rau muaj kev hloov pauv hauv cov paj hlwb thiab kev loj hlob tsis txaus ntawm qee qhov ntawm lub hlwb.
Cov kab mob tshwm sim cuam tshuam rau kev loj hlob ntawm pathology. Yog hais tias ib tug ntawm cov niam txiv muaj tus kab mob, muaj kev pheej hmoo ntawm kis nws mus rau tus me nyuam. Lwm daim ntawv (sporadic) kuj paub, uas tshwm sim yam tsis muaj qhov pom tseeb thiab qhov yuav tsum tau ua ua ntej, tshwm sim ntawm lub sijhawm sib txawv ntawm lub neej thiab txhua lub hnub nyoog, thiabtus kab mob hnyav heev. Chav kawm ntawm tsev neeg lossis hom caj ces yog qhov mob me me.
Cov tsos mob
Tuberous sclerosis cuam tshuam rau cov ntaub so ntswg, kab mob thiab cov kab mob sib txawv, yog li cov tsos mob ntawm tus kab mob yuav txawv. Feem ntau, lub paj hlwb raug kev txom nyem. Qhov no qhia:
- Moderate dementia - oligophrenia, tshwm sim hauv ib nrab ntawm cov neeg mob.
- Convulsive Syndrome - kev loj hlob ntawm tus kab mob nyuam qhuav pib nrog convulsions hauv cov menyuam yaus ntawm thawj xyoo ntawm lub neej. Nrog lub hnub nyoog, tus mob no hloov mus ua qaug dab peg. Lawv ua rau muaj kev puas siab puas ntsws thiab dhau los ua qhov tseem ceeb ntawm kev tsis taus.
daim tawv nqaij mob yog yam ntxwv los ntawm:
- Kev tsim cov hnub nyoog me ntsis. Rau qee tus, lawv tshwm sim thaum yug los, rau lwm tus - txij li ob xyoos. Nrog rau kev loj hlob ntawm tus menyuam, lawv cov lej nce, lawv nyob asymmetrically ntawm lub pob tw, lub cev thiab ceg ceg.
- Hauv cov menyuam yaus, cov tsos mob ntawm tuberous sclerosis (daim duab hauv qab no) tshwm sim ntawm daim tawv nqaij ntawm lub ntsej muag thiab lub cev nrog ntau qhov me me ntawm cov xim daj thiab xim liab. Feem ntau, cov tsos mob no tshwm sim hauv cov tub ntxhais hluas.
- Qhov tsos ntawm "shagreen dermis" - coarsened ntawm daim tawv nqaij ntawm nraub qaum thiab pob tw.
- Fibrous plaques uas nyob ze ntawm cov ntsia hlau daim hlau ntawm ob txhais tes, thiab tom qab laus laus - thiab nyob ze ntawm cov rau tes ntawm qis extremities.
Kev hloov kho qhov muag:
- neoplasms ntawm retina thiab optic paj hlwb muaj tus du lossis nodularnto;
- txo qis hauv acuity thiab nqaim ntawm kev pom;
- optic paj hlwb edema;
- kev ua txhaum ntawm pigmentation ntawm iris;
- cataract;
- strabismus.
Cov tsos mob ntawm tuberous sclerosis nrog kev puas tsuaj rau cov kabmob sab hauv:
- lub plawv dhia tsis sib haum;
- qog nqaij hlav cancer;
- cystic formations ntawm lub raum thiab lub ntsws;
- pab ntsws ua haujlwm;
- qhov quav polyposis;
- Neoplasms hauv qhov ncauj;
- erasing tooth enamel;
- tus menyuam hauv plab tuag.
Cov kab mob hauv nruab nrog cev feem ntau muaj ntau qhov txhab uas tuaj yeem tshwm sim hauv lub neej.
Ntxiv rau cov cim no, muaj cov tsos mob hauv qab no ntawm tuberous sclerosis hauv cov menyuam yaus:
- tsis txaus siab rau txhua yam tshiab;
- nyuaj hloov siab;
- delayed teb;
Kev kuaj kab mob
txhawm rau kuaj mob, koj yuav tsum ua:
- Kev nug ntawm tus neeg mob. Tus kws kho mob pom cov lus tsis txaus siab, lub sijhawm tshwm sim ntawm tus kab mob, txawm tias muaj cov xwm txheej zoo sib xws hauv lwm cov txheeb ze.
- Kev tshuaj xyuas sab nraud. Cov tawv nqaij raug tshuaj xyuas seb muaj pob liab liab thiab qhov chaw ntawm cov tawv nqaij tsis muaj xim.
- Kev tshuaj ntsuam dav dav ntawm cov zis thiab ntshav. Cov ntsiab lus ntawm cov protein thiab erythrocytes yog saib xyuas los tsim cov pathology ntawm ob lub raum.
- Tuberous sclerosis test TSC1 protein hamartin thiab TSC2 protein tuberin tau uatsis nyob rau hauv tag nrho cov chav kuaj. Qhov twg ua qhov no, tus kws kho mob yuav qhia rau koj.
- kuaj lub raum kom pom cov neoplasms.
- Ultrasound ntawm lub plawv qhia kev hloov hauv lub cev.
- Electroencephalography ntawm lub hlwb kuaj pom qhov txhab.
- CT thiab MRI tau ua tiav kom paub meej qhov kev kuaj mob.
- Kev sab laj ntawm kws kho mob dermatologist, ophthalmologist, neurologist, nephrologist, cardiologist, geneticist.
Tom qab kev kuaj mob ntawm tuberous sclerosis, qhov twg tag nrho cov kev kuaj mob, cov kws tshaj lij kev sib tham thiab cov txiaj ntsig tau raug muab coj los rau hauv tus account, ib chav kho mob tau sau tseg.
Kev kho mob
Bourneville tus kab mob tsis tuaj yeem kho tau. Lub hom phiaj tseem ceeb ntawm kev kho mob yog kev txhawb nqa kev kho mob thiab, yog tias tsim nyog, kev cuam tshuam kev phais, kom tus neeg mob tuaj yeem ua lub neej zoo. Feem ntau, kev kho mob nyuaj yog siv, hauv cov tshuaj tau sau tseg:
- corticosteroids txo lossis tshem tawm qaug dab peg;
- tshuaj mob plawv rau cov qog nqaij hlav hauv plawv;
- tshuaj tiv thaiv hypertensive kom txo qis thaum lub raum puas;
- hormonal, tiv thaiv kev puas tsuaj ntxiv rau lub ntsws.
Cov menyuam yaus xav tau kev sab laj kws kho mob tsis tu ncua los tiv thaiv kev puas hlwb. Tsis tas li ntawd, nws yog ib qho tsim nyog yuav tsum ua raws li kev noj zaub mov tshwj xeeb uas muaj qhov tsawg kawg nkaus ntawm cov protein thiab carbohydrates thiab cov roj ntau ntxiv. Antidepressants thiab anticonvulsants, nrog rau kev noj haus, tuaj yeem pab txo qis qaug dab peg.thiab tejzaum nws yuav raug cais tag nrho.
Kev kho mob rau tuberous sclerosis yog siv los:
- tshem tawm cov qog hlwb uas ua rau qaug dab peg thiab spasms;
- kev puas tsuaj ntawm polyps hauv plab hnyuv siv colonoscopy;
- tshem tawm cov neoplasms uas cuam tshuam nrog kev tawm ntawm cov kua cerebrospinal;
- tshem tawm kev loj hlob hauv lub raum;
- cauterization ntawm qhov loj me ntawm lub retina;
- tshem tawm cov pob tseem ceeb ntawm daim tawv nqaij nrog lub laser, kua nitrogen thiab cov zaus tam sim no.
Kev kho mob phais yog nqa tawm raws li qhov chaw kawg: thaum cov qog nqaij hlav benign degenerates rau hauv malignant neoplasm, deformation ntawm cov kab mob hauv nruab nrog cev thiab nce siab cranial. Tus neeg mob yuav tsum tau tso tseg kev tawm tsam hauv lub sijhawm, ua raws li kev noj zaub mov thiab, thaum muaj xwm txheej hnyav, mus rau kev cuam tshuam kev phais.
tuberous sclerosis ntawm lub hlwb
Nrog rau tus kab mob, dementia tshwm sim, qaug dab peg tshwm sim, cov qog nqaij hlav nodular intracranial, uas thaum kawg tau npog nrog calcium phosphate crystals. Nrog rau X-ray txoj kev tshawb fawb, calcifications thiab incorrectly tortuous hlab ntsha, capillaries thiab cov hlab ntsha me me ntawm pia mater raug cais tawm ntawm lub hlwb.
Kev cuam tshuam ntawm kev loj hlob ntawm kev puas siab puas ntsws tau pom nyob hauv thawj ob xyoos ntawm lub neej. Nws manifests nws tus kheej nyob rau hauv ib nrab ntawm cov neeg mob uas muaj tus kab mob no thiab qhia nyob rau hauv loj los yog nruab nrab daim ntawv. Epilepsy qaug dab peg tshwm sim los ntawm me nyuam mos, pib nrog me nyuam mosspasm. Nws yog mob qaug dab peg uas feem ntau ua rau muaj kev tsis taus ntawm tus menyuam. Tsis tas li ntawd, muaj kev hloov pauv ntawm tus cwj pwm, cov neeg mob raug kev puas tsuaj los ntawm kev puas hlwb, kev ua siab loj, kev ua phem rau nws tus kheej thiab kev ua phem, uas yog qhia rau cov neeg nyob ib puag ncig lawv.
Nws tau pom tias qhov tshwm sim thaum ntxov ntawm tus kab mob ua rau muaj kev puas siab puas ntsws loj thiab kev coj tus cwj pwm tsis zoo. Cov neeg mob feem ntau muaj teeb meem pw tsaug zog thiab raug kev txom nyem los ntawm insomnia, nquag awakenings, thiab tsis nco qab taug kev.
Kev txhim kho kab mob hauv cov neeg mob hluas
Tuberous sclerosis (daim duab ntawm cov tsos mob tau nthuav tawm hauv qab no) yog tus cwj pwm los ntawm kev tsim cov qog nqaij hlav hauv nruab nrog cev thiab tawv nqaij. Cov kab mob hnyav tsis tshua muaj tshwm sim, feem ntau cuam tshuam rau ib lossis ntau lub cev. Raws li kev txheeb xyuas kev kho mob, tus kab mob no suav hais tias tsis tshua muaj, txawm hais tias cov kws kho mob paub tseeb tias nws tshwm sim ntau dua li qhov nws tau kuaj pom. Tus kab mob no kis tau los ntawm cov noob, tab sis cov niam txiv uas muaj cov noob caj noob ces tuaj yeem muaj cov menyuam noj qab nyob zoo.
Cov me nyuam mob muaj kev puas hlwb, teeb meem nrog kev kawm thiab tus cwj pwm ntawm tus cwj pwm, autism tshwm sim. Nrog rau cov teeb meem ntawm kev loj hlob ntawm kev puas siab puas ntsws, kev hais lus txhim kho yog inhibited. Cov menyuam yaus hnub nyoog qis dua ib xyoos feem ntau raug kev txom nyem los ntawm cov me nyuam mos spasms uas kav ob peb feeb thiab rov ua ntau zaus hauv ib hnub. Thaum muaj hnub nyoog tsib xyoos, lawv tuaj yeem tso tseg tsis tu ncua lossis hloov mus rau lwm hom qaug dab peg. Qhov no tshwm sim vim qhov hnyavlub paj hlwb puas thiab kev loj hlob txawv txav ntawm lub paj hlwb. Tsis tas li ntawd, kev tsim cov plaques ntawm retina ntawm lub qhov muag, uas tau pom los ntawm tus kws kho qhov muag thaum kuaj xyuas, yog qhov tshwm sim. Yuav luag 100% ntawm cov menyuam yaus uas muaj tuberous sclerosis qhia cov tsos mob ntawm daim tawv nqaij:
- tshwm sim hauv cov menyuam mos thiab menyuam yaus thaum ntxov ntawm daj ntseg (maculae), uas yog asymmetrically nyob thoob plaws lub cev, tshwj tsis yog txhais tes thiab taw. Nrog lub hnub nyoog, angiofibromas (mob qog nqaij hlav) ntawm lub ntsej muag raug tsim.
- Kev tsim cov pob txha pob txha (qhov chaw ntxhib ntawm lub dermis) ntawm lub pob tw thiab hauv thaj tsam lumbar txawm nyob hauv plab.
- Fibrous plaques nrog lub teeb beige tint. Localized ntawm lub hauv pliaj thiab taub hau.
- Hloov kho fibromas nyob thoob plaws lub cev. Cov no yog cov qauv mos, zoo li lub hnab me me ntawm ib ceg.
- Perungual fibroma tshwm nyob ze lossis hauv qab ntawm cov rau tes. Tsim thaum hluas, tsis tshwm sim thaum me nyuam mos.
Nrog rau cov kab mob no, feem ntau cov plab hnyuv siab raum raug cuam tshuam, thiab ua ntej ntawm tag nrho, lub luag haujlwm ntawm lub plawv cuam tshuam, uas ua rau muaj teeb meem loj.
Kev kho mob ntawm cov menyuam yaus
Tam sim no, cov kws kho mob tseem tsis tau pom cov txheej txheem zoo li no uas cov tsos mob ntawm tuberous sclerosis tuaj yeem kho tau tag nrho. Tsuas yog kev txhawb nqa kev kho mob tsuas yog ua kom txo tau tus neeg mob tus mob. Cov kev kho mob hauv qab no tau ua tiav:
Clonazepam, Nitrazepam, Carbamazepine, Diacarb yog siv rau convulsions. Cov tshuaj nres qaug dab peg, ua rau cov txheej txheem ntawm kev puas siab puas ntsws tsis zoo
- Daim tawv nqaij raug kho nrog lub laser thiab dermatoabrasion (tshem tawm ntawm daim tawv nqaij saum toj kawg nkaus). Tom qab kev kho mob, neoplasms yuav rov tshwm sim.
- Hypertension. Nws tshwm sim vim kev ua txhaum ntawm lub raum. Lawv noj tshuaj los txo qhov siab thiab siv rau kev tshem tawm cov qog nqaij hlav.
- Kev txhim kho qeeb. Muab kev cob qhia tshwj xeeb thiab kev kho ua haujlwm tsim nyog.
- Lub plawv tsis ua hauj lwm. Cov tshuaj kho tau siv los kho.
- Neurobehavioral teeb meem. Sau tshuaj los yog siv cov tswv yim tswj tus cwj pwm tshwj xeeb.
- Npaj intracranial siab. Cov qog uas tshwm sim raug tshem tawm raug phais.
Kev kho mob tuberous sclerosis hauv cov menyuam yaus, pib thaum ntxov, txo cov tsos mob thiab ua rau lub neej ntev.
Teeb meem thiab qhov tshwm sim ntawm tus kab mob
Cov teeb meem tseem ceeb ntawm tus kab mob suav nrog:
- mob vwm. Lawv ua rau muaj xwm txheej mob vwm, thaum qaug dab peg tom qab ntau tshaj li ib nrab teev thiab tus neeg mob tseem tsis nco qab txhua lub sijhawm.
- raum puas. Qhov no qhia tau hais tias mob raum tsis ua haujlwm. Hauv qhov no, tus neeg mob tau ua haujlwm kom tshem tawm cov qog, tus mob rov qab los zoo li qub.
- tsis pom kev. Cov yam ntxwv tsim ntawm cov qog ntawm lub retina los yog ze ntawm lub paj hlwb ua rau txo qhov pom kev. Tsis tas li ntawd, cataracts, strabismus tshwm sim, iris hloov. Kho los ntawm kev phais.
- Cov kua dej intracranial. Qhov no ua rau lub paj hlwb. Tus neeg mob yws tias mob taub hau nrog xeev siab thiab ntuav.
- Rhabdomyomas hauv plawv. Cov hlav hlav hauv menyuam yaus cuam tshuam nrog cov ntshav ncig, ua rau arrhythmia. Tom qab ntawd, lawv txo qis.
Nrog txhua yam teeb meem, kev kho mob tau ua tiav.
Tubular sclerosis. Kev kuaj mob thiab kev kho mob
Qhov kev cia siab ntawm Bourneville tus kab mob feem ntau nyob ntawm qhov mob hnyav. Ib daim ntawv me me muab lub sijhawm los ua lub neej nquag, nrog rau qhov hnyav, kev tsis taus tshwm sim. Feem ntau cov neeg mob uas muaj kev kho mob zoo nyob ntau tshaj li ib feem peb ntawm ib puas xyoo, nyob rau hauv lwm yam mob - tsis ntau tshaj tsib xyoos. Cov teeb meem loj ntawm lub cev tseem ceeb yuav tsum tau saib xyuas tas li thiab kev txhawb nqa. Txwv tsis pub, teeb meem kev noj qab haus huv tuaj yeem ua rau tuag taus. Txhawm rau tiv thaiv kev txhim kho ntawm cov teeb meem, cov neeg mob yuav tsum nyob rau hauv kev saib xyuas ntawm kws kho mob tag nrho lawv lub neej thiab ua raws li lawv cov tshuaj nruj me ntsis. Ua tsaug rau txoj kev loj hlob ntawm cov tshuaj, convulsions nyob rau hauv cov me nyuam mos raug tshem tawm nrog tshuaj, thaum lub hnub nyoog laus, qaug dab peg qaug dab peg yog tshem tawm siv tshuaj kho mob, daim tawv nqaij tsis xws luag raug tshem tawm nrog ib tug laser, thiab intracranial siab normalized los ntawm shunting. Tag nrho cov no pab txhim kho qhov zoo thiab lub sijhawm ntawm lub neej nrog tuberous sclerosis.
