Kabuki Syndrome yog ib yam kab mob tsis tshua muaj caj ces uas tshwm sim ib zaug hauv 32,000 tus menyuam yug tshiab. Cov tsos mob ntawm tus me nyuam mob (phenotype) zoo li lub ntsej muag ntawm tus neeg ua yeeb yam los ntawm Japanese Kabuki ua yeeb yam thaum ub.
Ua ntej ua yeeb yam, cov txiv neej ua yeeb yam tau pleev xim ntev. Lub kaum sab xis ntawm ob lub qhov muag tau rub mus rau sab. Qee qhov chaw siv lo lus "Kabuki pleev syndrome". Qee lub sij hawm muaj lub npe hu ua Niikawa-Kuroki syndrome. Kuv tshwj xeeb yog xav ua kom pom qhov muag. Ntau tus neeg ua yeeb yam tau txi lawv txoj kev noj qab haus huv thiab pleev xim rau qhov muag. Cov pob muag kuj tseem ceeb, ua rau lawv nkhaus hauv ib qho arc. Thaum qhov kev ua yeeb yam xaus, tus cwj pwm yuav khov rau hauv qhov chaw, kho nws lub qhov muag ntawm ib qho taw tes thiab squint nws ob lub qhov muag.
Tus kab mob no tshwm sim los ntawm cov yam ntxwv ntawm lub ntsej muag nrog rau kev puas hlwb. Kawm cov tsev neeg nrog Kabuki syndrome, qhia txog autosomal dominant qauv ntawm kev qub txeeg qub teg.
keeb kwm keeb kwm
Piv rau xyoo 1981 los ntawm cov kws kho mob Nyij Pooj Niikawa thiab Kuroki. Thawj qhov kev kawmqhia tias ntawm 60 tus menyuam yaus, 58 yog neeg Nyij Pooj. Tau ntau tshaj li kaum xyoo hauv ntiaj teb kev kho mob, tus mob no tau suav tias yog kab mob Nyij Pooj. Xyoo 1992, nws tau pom meej tias cov neeg ntawm txhua haiv neeg muaj kev cuam tshuam rau tus kab mob. Cov neeg mob ntawm tus mob no tau txheeb xyuas nyob rau hauv North America, Arab lub teb chaws, Belarus. Txog niaj hnub no, ntau dua 350 tus neeg mob ntawm pathology tau kawm.
Causes of the Syndrome
Etiology tsis nkag siab tag nrho. Ntau qhov kev tshawb fawb tau ua tiav. Peb tau kawm txog qhov piv ntawm poj niam txiv neej rau tus kab mob (50/50), tsis suav nrog kev sib raug zoo nrog kev sib yuav, tsis tau qhia txog kev cuam tshuam ntawm tus menyuam hauv plab thaum cev xeeb tub. Karyotyping ntawm txhua tus menyuam mob thiab lawv niam lawv txiv tau ua tiav. Lawv pom cov noob hloov pauv thiab sim coj lawv mus rau hauv tus mob, tab sis cov kev tshawb fawb tau tsis lees paub.
Hauv xyoo 2011, 110 tsev neeg uas muaj Kabuki syndrome tau kuaj pom, thiab hauv 81 qhov kev hloov pauv hauv MLL2 noob tau pom, tab sis qhov no tsis yog qhov qhia meej ntawm tus kabmob. Kev kuaj mob tseem yog ua los ntawm cov duab kho mob. Kev tshawb fawb tseem tab tom ua.
Clinical signs of disease
Raws li ntau tus neeg mob tau tshuaj xyuas, tus kws tshawb fawb Niikawa thiab cov kws sau ntawv sib koom tau txheeb xyuas 5 cov tsos mob ntawm Kabuki syndrome.
- Tus yam ntxwv lub ntsej muag - ntev palpebral fissures, tuab plaub muag, eversion ntawm daim tawv muag qis (ectropion), dav choj ntawm lub qhov ntswg, flattened taub ntswg, loj protruding pob ntseg, pob muag nyob rau hauv daim ntawv ntawm arches nrog ib tug tsawg loj hlob. nyob rau hauv lawv sab sab, cov plaub hau tsis loj hlob.
- Skeletal anomalies - pob txha pathology thiab microcephaly, gothic palate (siab), cleft palate ua ke nrog cleft di ncauj, hniav anomalies (dav dental hlws ris, hniav tsis txaus, malocclusion), kev loj hlob retardation, luv ntiv tes (tshwj xeeb tshaj yog 5th), sacrococcygeal sinus (epithelial-coccygeal passage), nce kev sib koom ua ke, scoliosis.
- Hloov pauv hauv dermatoglyphics - fetal pads ntawm lub ntsis ntiv tes.
- Kev txawj ntse tsis muaj peev xwm sib txawv. IQ xeem nruab nrab yog 60-80 ntsiab lus. Cov menyuam yaus uas muaj Kabuki Syndrome feem ntau yuav muaj kev puas hlwb. Tus cwj pwm los ntawm kev ua txhaum ntawm tus cwj pwm, kev txom nyem ntawm kev xav, nyiam zom cov khoom uas tsis tau noj.
- Post-natal stunting.
Lwm cov tsos mob
Lawv nrog cov tsos mob tseem ceeb ntawm tus kab mob. Txhua lub cev ntawm lub cev tuaj yeem cuam tshuam.
- Pathology ntawm cov hlab plawv. Txhua yam kab mob hauv lub plawv (tetralogy ntawm Fallot, ventricular lossis atrial septal defect, coarctation lossis aortic aneurysm, patent ductus arteriosus) tuaj yeem tsim.
- Kev phais mob - hernias (umbilical, inguinal, diaphragmatic), qhov quav atresia.
- Kev cuam tshuam hauv lub plab zom mov hauv daim ntawv ntawm malabsorption ntawm cov as-ham (malabsorption), biliary dyskinesia.
- Pathology ntawm cov zis - dysplasia, horseshoe raum, cais ntawm lub raum pelvis, duplication thiab obstructive ureters.
- malformations ntawm cov kabmob sab nraud ntawm qhov chaw mos - cryptorchidism, micropenis.
- Immunodeficiency. Cov menyuam yaus feem ntau kis kab mob ua pa sab sauv thiab mob ntsws. Muaj ib qho exacerbation ntawm otitis media.
- YEndocrine pathology. Hauv menyuam mos, yuav muaj hypoglycemia. Qee zaum mob ntshav qab zib mellitus, congenital hypothyroidism, thiab rog dhau. Cov qib ntawm cov tshuaj somatotropic tuaj yeem txo qis. Cov menyuam yaus yuav muaj hnub nyoog laus dua.
- Hematological ntshawv siab - idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, polycythemia, neonatal hyperbilirubinemia.
- Txoj kev xav tsis zoo. Kev pom kev tsis pom kev (myopia, astigmatism, tsis tiav atrophy ntawm lub paj hlwb optic. Txo lossis tsis hnov lus (65% ntawm cov neeg mob).
- Neurological pathology. Txij thaum yug los, tej zaum yuav muaj qhov txo qis hauv nqus thiab nqos reflexes. Tsis muaj paj hlwb palsy, nystagmus, strabismus, drooping daim tawv muag. Ib feem peb ntawm cov menyuam yaus muaj cov leeg nqaij hypotension, uas tuaj yeem nyob mus ntev. Raws li cov menyuam yaus loj hlob tuaj, lawv poob qis hauv kev loj hlob ntawm kev puas siab puas ntsws thiab lub cev, muaj kev ua txhaum ntawm kev sib koom tes ntawm kev txav, kev ncua ntawm kev hais lus. Tej zaum yuav muaj kev tshee ntawm tes thiab ko taw. Txoj kev loj hlob ntawm qaug dab peg tshwm sim nyob rau hauv txhua lub hnub nyoog, cov ntxhais yog ntau raug.
Kev kuaj mob Kabuki Syndrome
Kev kuaj mob yog nyob ntawm daim duab kho mob thiab lees paub los ntawm kev tshawb fawb chromosomal. Kev tshawb nrhiav molecular tab tom ua rau kev hloov pauv hauv MLL2 noob. Qee cov kab mob caj ces muaj cov yam ntxwv zoo sib xws, nws yog ib qho tsim nyog los ua qhov sib txawvdiagnostics.
Nws yog ib qho tseem ceeb los txheeb xyuas cov kab mob loj ntawm lub cev thiab cov tshuab siv ntau yam kev sim thiab ntsuas ntsuas.
Kabuki Syndrome Treatment
Tsis muaj kev kho tshwj xeeb. Kho cov teeb meem uas twb muaj lawm hauv lub cev. Kev phais kho mob plawv yog ua tiav. Ua cov yas tawv palate. Nyob rau hauv rooj plaub uas tsis hnov lus tsis zoo, kev kho mob los ntawm tus kws kho mob otolaryngologist thiab tus kws kho lub suab yog qhov tsim nyog, qhov teeb meem ntawm kev pab cuam hnov lus tau raug daws. Lwm yam kev ua txhaum cai raug them rov qab. Cov menyuam yaus uas muaj kab mob Kabuki yuav tsum tau hloov mus rau qhov chaw sib raug zoo. Cov tsev neeg xav tau kev txhawb nqa lub hlwb thiab cov khoom siv los txhawb tus menyuam.
Nyob rau lub Ib Hlis qhov teeb meem ntawm cov ntawv xov xwm Asmeskas thawj coj PNAS, ib tsab xov xwm tau tshaj tawm txog kev kho mob hlwb hauv Kabuki syndrome. Qhov tseem ceeb ntawm txoj kev kho yog siv cov khoom noj uas tsis muaj carb ketone. Cov khoom noj khoom haus zoo li no pab ua kom muaj kev nce qib ntawm neurogenesis. Txoj kev tshawb no tau ua nyob rau hauv chav kuaj nas ntawm Johns Hopkins University. Nws tau raug pov thawj kom nce qib ntawm kev kho cov paj hlwb hauv lub hlwb ntawm cov tsiaj.
Peb cov neeg nyob sib ze, Tus Kws Kho Mob Biological Sciences Varvara Dyakonova tau tawm tswv yim txog kev tshawb pom ntawm Asmeskas cov npoj yaig. Nws ntseeg tias kev kho zaub mov muaj kev nyab xeeb dua li cov tshuaj chemical. Muaj qhov qhia tau tias txoj kev kho mob no yuav pab kho lwm yam kab mob genetic anomalies txuam nrog kev puas hlwb.
Nws paub tias lub cev ketone yog cov metabolites ntawm cov rog rog. Lawv tsim tshwm sim nrog tsis muaj kev noj hauscarbohydrates thiab hloov mus rau cov khoom noj protein. Ketones muab cov khoom noj rau lub hlwb, tab sis tib lub sijhawm, lawv qhov ntau dhau muaj cov tshuaj lom rau hauv nruab nrab paj hlwb. Yog li ntawd, kev qhia txog kev noj zaub mov zoo li no rau hauv kev noj zaub mov ntawm cov menyuam muaj mob yuav tsum tau kuaj ntxiv. Kev tshawb nrhiav tab tom ua.
Hnub Paub Txog Kab Mob - Lub Kaum Hli 23rd
Kev ua koob tsheej nyob hauv ntau lub tebchaws thoob ntiaj teb. Lub koom haum Interregional tshwj xeeb ntawm Cov Menyuam Tsis Taus thiab Lawv Cov Niam Txiv "Kabuki Syndrome" tau tsim. Kev ua haujlwm ntawm ib lub koom haum pej xeem yog los txhawb cov tsev neeg uas tau ntsib nrog cov kab mob no. Hauv kev sib tham, muaj cov blogs ntawm cov niam txiv uas qhia lawv cov kev paub txog kev tu thiab kho tus menyuam mob. Tib neeg tham txog teeb meem, yuav ua li cas nrog nws.
Kabuki Syndrome muaj qhov tshwm sim zoo. Lub neej expectancy yog cuam tshuam los ntawm lub xub ntiag ntawm pathology los ntawm cov hlab plawv system thiab cov qib ntawm kev tiv thaiv kab mob.
