Muaj ntau hom kab mob loj heev uas ob peb tus neeg paub txog. Tom qab tag nrho, ib co ntawm cov pathologies yog tsawg heev. Hmoov tsis zoo, feem ntau cov kab mob tshwm sim yog mob hnyav thiab kho tsis tau. Feem ntau lawv ua rau lawv tus kheej xav hauv thawj xyoo ntawm tus menyuam lub neej. Ib qho ntawm cov kab mob no yog suav tias yog Zellweger's syndrome (Bowen's disease). Nws yog qhov tshwm sim ntawm kev hloov pauv hauv cov kab mob caj ces. Tus kab mob yog tsim nyob rau hauv lub tsev menyuam. Hmoov tsis zoo, cov kab mob pathology tau suav tias tsawg heev uas nws tsis tshua kuaj pom thaum cev xeeb tub. Cov ntaub ntawv tseeb ntawm qhov tshwm sim ntawm tus kab mob hauv cov tub thiab cov ntxhais tsis muaj.
Zelweger syndrome: kev piav qhia ntawm pathology
Nws paub tias tus kab mob no yog nyob rau pawg ntawm peroxisomal pathologies. Lwm lub npe rau tus kab mob yog "cerebrohepatorenal syndrome". Raws li lub ntsiab lus no, ib tus tuaj yeem nkag siab txog cov kabmob uas cuam tshuam rau hauv cov kab mob no. Zellweger syndrome yog dab tsi thiab vim li cas nws tshwm sim? Txawm tias cov kws tshawb fawb tsis paub cov lus teb rau cov lus nug no. Tsuas yog ib feem me me ntawm cov ntaub ntawv hais txog xws li pathology yog paub. Tom qab tag nrho, qhov zaus ntawm qhov tshwm sim ntawm tus mob no yog li ntawdme me ces nws yeej tsis muaj peev xwm mus tshawb tau kiag li. Hmoov tsis zoo, lub sijhawm tam sim no, kev kwv yees rau tus kab mob no yog kev poob siab. Cov me nyuam yug los nrog qhov kev kuaj mob zoo sib xws tsis tshua muaj sia nyob mus txog 1 xyoos. Qhov no yog txuam nrog cov tsos mob hnyav ntawm pathology. Ntawm lawv yog kev ncua ntawm psychomotor thiab kev loj hlob ntawm lub cev, lub raum thiab lub siab tsis ua haujlwm. Tsis tas li ntawd, Zellweger's syndrome feem ntau ua ke nrog lwm yam tsis xws luag. Qee qhov malformations yog incompatible nrog lub neej. Tam sim no, tsis muaj cov ntaub ntawv txhim khu kev qha txog seb qhov kev tsis txaus ntseeg yog qhov tshwm sim ntawm peroxisome deficiency lossis seb lawv tshwm sim li kev ywj pheej pathologies. Tsis muaj kev kho etiological rau cov kab mob no.
Zelweger syndrome: ua rau tus kab mob
Cerebrohepatorenal syndrome tshwm sim vim qhov tsis txaus ntawm cov kab mob hauv lub cev - peroxisomes. Lawv tsim nyog rau kev siv cov txheej txheem redox. Yog tias tsis muaj peroxisomes, cov kab mob biochemical tshwm sim. Qhov ua rau Zellweger's Syndrome yog suav tias yog ib qho kev hnyav hnyav. Nws paub tias tus kab mob kis tau los ntawm cov niam txiv nyob rau hauv ib qho autosomal recessive yam. Cell tsis ua haujlwm yog txuam nrog kev hloov pauv hauv 1, 2, 3, 5, 6, 12 peroxin noob. Txawm hais tias muaj tseeb tias cov kws tshawb fawb tau pom tias qhov kev hloov pauv tshwm sim hauv lub cev nrog cerebrohepatorenal syndrome, vim li cas lawv thiaj li loj hlob tseem tsis tau paub. Tej zaum, nyob rau hauv tas li ntawd mus rau aggravated heredity, provoking yam tseem cuam tshuam qhov tshwm sim ntawm pathology. Ntawm lawv yog cov teeb meem cuam tshuam ntawm cov tshuaj lom neeg ua haujlwm raulub cev ntawm tus poj niam cev xeeb tub, kev quav dej caw thiab yeeb tshuaj. Tsis tas li, kev hloov pauv noob tuaj yeem txhim kho vim muaj kev ntxhov siab.
Kev nthuav qhia ntawm Zellweger syndrome
Zelweger's syndrome (Bowen's disease) yog tus cwj pwm los ntawm kev hloov pauv hauv lub hlwb, ob lub raum thiab lub siab. Pathology tuaj yeem xav tias tam sim ntawd tom qab yug menyuam. Cov menyuam yaus uas muaj tus kab mob no yog yug los nrog lub cev hnyav thiab tau hais tias pob txha taub hau dysmorphia. Ib lub bulge tau sau tseg nyob rau hauv cheeb tsam frontal, me me fontanel yog loj loj. Muaj cov tsos mob xws li "Gothic palate", hydrocephalus, flattening ntawm lub occiput. Ntau qhov quav tau pom ntawm caj dab ntawm cov menyuam yug tshiab.
Nyob rau hauv thawj lub hlis ntawm lub neej, pathologies ntawm digestive system raug kuaj pom. Ntawm lawv yog cov tsos mob ntawm cholestasis, jaundice, hepatomegaly. Qee zaum, adrenal atrophy tau pom. Thaum kuaj lub siab thiab ob lub raum, kuaj pom cov hlwv (tsis tas li). Tsis tas li ntawd, muaj kev tsis pom kev. Ntawm lawv yog congenital cataracts, glaucoma, clouding ntawm lub cornea ntawm lub qhov muag. Qee zaum, optic discs yog atrophied. Raws li cov tsos mob no, nws tuaj yeem xaus lus tias tus neeg mob muaj Zellweger's syndrome. Ntxiv nrog rau cov kev tshwm sim no, kev tsis txaus ntseeg ntawm lub plawv thiab qhov chaw mos ntawm lub cev feem ntau pom.
Neurological ntshawv siab
Rau ntau dua, lub paj hlwb raug kev txom nyem los ntawm Zellweger's syndrome. Los ntawm thawj feeb ntawm tus me nyuam lub neej, ib tug tuaj yeem pom cov leeg nqaij hypotonia, tsis muajreflexes. Vim yog cov leeg tsis muaj zog, tus me nyuam tsis tuaj yeem nqus tau ib txwm nyob ntawm niam lub mis. Hauv kev ntsuam xyuas, ob sab nystagmus tau sau tseg. Ib qho ntawm cov kab mob neurological yog convulsive syndrome, uas tuaj yeem ua rau tuag taus. Kev loj hlob ntawm psychomotor ntawm tus menyuam tsis sib haum rau nws lub hnub nyoog. Kev kuaj mob ntawm lub hlwb qhia pom ntau dhau ntawm cov kua cerebrospinal (hydrocephilia), smoothness ntawm convolutions thiab sulci.
Diagnosis
Kev kuaj mob ntawm "Zelweger's syndrome" yog tsim los ntawm kev kuaj mob, cov ntaub ntawv los ntawm kev kuaj mob hauv nruab nrog cev. Txawm hais tias qhov tseeb tias pathology tsis tshua muaj, kev sib xyaw ua ke ntawm cov tsos mob ntawm kev puas tsuaj rau lub hlwb, daim siab thiab ob lub raum ua rau nws muaj peev xwm xav tias nws. Cov yam ntxwv kho mob yog: pob txha taub hau dysmorphia, hypotension thiab areflexia. Nyob rau hauv kev ntsuam xyuas, jaundice, tsis muaj cov tshuaj tiv thaiv rau lub teeb thiab suab yog qhia. Kev kuaj mob yuav ua tau ntau dua tom qab kuaj ophthalmological. Ultrasound ntawm lub plab zom mov qhia cov kab mob bile thickening syndrome, hepatomegaly, adrenal atrophy, thiab cysts. Lub siab puncture qhia fibrosis. Radiography ntawm cov pob txha ntawm qis extremities qhia dysplasia ntawm lub hauv caug thiab lub duav pob qij txha. Tsis tas li ntawd, kev tsis txaus ntseeg ntawm lub plawv, ob lub raum, thiab qhov chaw mos tej zaum yuav raug pom.
Kev kuaj mob zaum kawg yog ua tom qab kuaj ntshav biochemical. Lub xub ntiag ntawm tus kab mob tuaj yeem hais tau qhov tseeb nrog kev nce qib ntawm peroxisomal acids hauv cov ntshav plasma. Kev kuaj caj ces kuj ua tau.
Cov teeb meem ntawm peroxisomal pathologies
Cov teeb meem ntawm Zellweger's syndrome yog qhov tuag taus. Tej zaum lawv yuav cuam tshuam nrog qhov txawv txav ntawm cov kabmob sab hauv lossis lub hlwb. Cov teeb meem loj muaj xws li mob siab thiab lub raum tsis ua haujlwm, kev ua tsis taus pa, hydrocephalus. Qee zaum, qhov tshwm sim loj heev tshwm sim vim yog lub plawv txawv txav. Ntawm lawv - mob plawv tsis ua haujlwm, pulmonary hypertension. Kev loj hlob zuj zus ntawm tus mob yog vim hypotension, vim muaj qhov tsis muaj zog ntawm cov leeg ua pa. Kev kho mob ntawm pathology yog cov tsos mob. Nws suav nrog - khoom noj khoom haus parenteral, kev taw qhia ntawm cov tshuaj tiv thaiv kab mob (cov tshuaj "Seduxen", "Phenobarbital"), yog tias tsim nyog - tshuab cua tshuab.
Kev kuaj mob rau cov kab mob peroxisomal
Zelweger's syndrome yog ib yam kab mob uas tseem tsis tau tsim kho. Hmoov tsis zoo, qhov kev cia siab rau qhov pathology no tsis zoo. Feem ntau, cov menyuam yaus tsis nyob dhau 1 xyoos. Kev tuag tshwm sim vim muaj qhov tsis zoo ntawm cov kab mob hauv nruab nrog cev lossis cov teeb meem ntawm tus kab mob.
