Lesha - Nihan syndrome: duab, hom qub txeeg qub teg, ua rau, tsos mob, kho

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Lesha - Nihan syndrome: duab, hom qub txeeg qub teg, ua rau, tsos mob, kho
Lesha - Nihan syndrome: duab, hom qub txeeg qub teg, ua rau, tsos mob, kho

Video: Lesha - Nihan syndrome: duab, hom qub txeeg qub teg, ua rau, tsos mob, kho

Video: Lesha - Nihan syndrome: duab, hom qub txeeg qub teg, ua rau, tsos mob, kho
Video: Tshuaj theem vim li cas thiaj tau nqi ?/ Siv kho mob dab tsi?/paris polyphylla use for? 2024, Kaum ib hlis
Anonim

Lesch-Nihan syndrome yog cais raws li kab mob sib kis nrog rau cov kab mob metabolic. Tus kab mob manifests nws tus kheej los ntawm thawj lub hlis ntawm lub neej. Nws yog qhov txaus ntshai vim tias tsis muaj kev kho tshwj xeeb tiv thaiv nws. Kev kho mob tsuas yog ua kom lub cev tsis muaj zog, tab sis tsis yog kho tus menyuam kom zoo los ntawm kev tshem tawm qhov ua rau. Dab tsi yog cov yam ntxwv ntawm no pathology? Yuav ua li cas thiaj tsim tau tus mob no?

Definition

Ntawm cov teeb meem tsis tshua muaj tshwm sim ntawm purine metabolism, Lesh-Nihan pathology yog qhov txawv. Tus mob no muaj ntau dua hauv cov tub, vim nws txuas nrog X chromosome. Nws cuam tshuam nrog enzyme deficiency, vim tias cov metabolism ntawm uric acid cuam tshuam, nws cov nyiaj nce. Lub tsub zuj zuj ntawm cov tshuaj no yog manifested los ntawm ib tug xov tooj ntawm neurological thiab metabolic manifestations, nyob rau hauv lub hauv paus ntawm tus kab mob no yuav xav tias yuav. Tus me nyuam tus cwj pwm coj txawv txawv yuav tsum tau mus kuaj mob, uas suav nrog kev sau cov kev ntsuam xyuas dav dav thiab kuaj caj ces.

Etiology

Dab tsi yog Lesch-Nihan syndrome txuas nrog? Qhov ua rau ntawm tus kab mob no yog nyob rau hauv cov kab mob caj ces. Qhov no txhais tau hais tias lub xub ntiag ntawm ib tug recessive noob nyob rau hauv niam ua rau txoj kev loj hlob ntawm pathology - qhov tsis xws luag yog kev sib deev-txuas. Cov txheej txheem kev txhim kho tau piav qhia ntau ntxiv hauv qab no. Ntxiv mus, lub xub ntiag ntawm xws li ib tug noob tsis tas yuav ua rau txoj kev loj hlob ntawm tus kab mob - qhov tshwm sim yog 25%. Txhawm rau ntsuas qhov kev pheej hmoo ntawm kev tsim cov kab mob pathology, kev sab laj kab mob caj ces raug pom zoo.

Foto Lesch Nyhan's Syndrome
Foto Lesch Nyhan's Syndrome

Kev mob caj ces

Lesch-Nyhan syndrome (kev sib deev, hom kev sib deev sib txuas) yog ib yam kab mob loj heev. Nws cuam tshuam nrog kev puas tsuaj rau HPRT (hypoxanthine-guanine phosphoribosyltransferase) noob, uas nyob ntawm X chromosome - ntawm nws caj npab ntev. Cov poj niam muaj ob lub chromosomes, thiab cov txiv neej muaj ib qho, uas yog vim li cas cov kab mob caj ces muaj ntau dua hauv kev sib deev muaj zog. Cov xwm txheej ntawm kev loj hlob ntawm tus kab mob hauv cov poj niam yog qhov tsawg heev, thiab nws cov tsos tuaj yeem piav qhia los ntawm qhov tsis ua haujlwm ntawm X chromosome.

Biochemical nta

Kev sib txuas nrog cov kab mob enzymatic, Lesch-Nyhan syndrome tshwm sim nws tus kheej. Nws biochemistry muaj qhov tsis txaus ntawm hypoxanthine-guanine phosphoribosyltransferase. Raws li ib txwm muaj, cov enzyme no muaj nyob rau hauv tag nrho cov hlwb, tab sis ntau ntawm nws muaj nyob rau hauv cov neurons ntawm lub hlwb. Cov kab mob caj ces ua rau nws tsis tuaj, ua rau muaj kev cuam tshuam cov metabolism hauv hypoxanthine. Vim li no, muaj ntau ntau ntawm uric acid tsim, uas tau kuaj pom hauv cov zis thiab ntshav. Raws nraimYog li ntawd, cov neeg mob tsim cov tsos mob ntawm gout.

Cerebrospinal kua muaj nta. Nws nce qib ntawm hypoxanthine, tsis yog uric acid. Qhov no ua rau muaj qhov txawv txav ntawm lub paj hlwb, thiab uric acid tsis tuaj yeem dhau los ntawm cov hlab ntsha hauv hlwb. Lub etiology ntawm kev coj cwj pwm tsis zoo tseem tsis tau tsim. Cov kws tshawb fawb tsis koom nrog nws ntau dhau ntawm hypoxanthine thiab uric acid. Nws ntseeg tau tias hyperuricemia ua rau tsis muaj dopamine. Ib qho ntxiv rhiab heev ntawm D1 receptors nyob rau ntawm striatal neurons yog tsim. Qhov no tuaj yeem ua rau muaj kev ua phem ntxiv.

Lesch Nyhan's Syndrome hom kev qub txeeg qub teg
Lesch Nyhan's Syndrome hom kev qub txeeg qub teg

Kev kho mob tshwm sim

Cov kab mob caj ces txuas nrog qhov Lesch-Nyhan syndrome tshwm sim nws tus kheej. Cov tsos mob ntawm pathology feem ntau cuam tshuam txog kev puas tsuaj rau lub paj hlwb. Cov neeg mob muaj kev txhawj xeeb txog qhov tshwm sim convulsive syndrome, thaum convulsions ntes cov leeg leeg. Hyperkinesia kuj tshwm sim, tshwm sim los ntawm twitching ntawm ceg ceg raws li ib tug tshwm sim ntawm ib tug spontaneous nce nyob rau hauv cov leeg nqaij. Cov menyuam yaus uas muaj tus mob no poob qab ob qho tib si hauv kev loj hlob ntawm lub cev thiab lub hlwb: lawv cov lus yog slurred, tej zaum yuav pib taug kev lig. Qhov cuam tshuam rau kev ua haujlwm ntawm cov hlab ntsha vagus ua rau muaj qhov nce hauv gag reflex: lub plab zom mov tshwm sim yam tsis muaj laj thawj. Tsis tas li ntawd, kev tuag tes tuag taw thiab qaug dab peg tsis tshua muaj tshwm sim. Tus kab mob no cuam tshuam nrog cov kab mob metabolic, ua rau muaj kev tshwm sim tshwj xeeb. Thaum nruab hnub, raws li txoj cai, ntau cov zis tso tawm, uascuam tshuam nrog kev nqhis dej tas li thiab lub raum pathology. Uric acid accumulates nyob rau hauv lub pob ntseg, ua rau tsim ntawm thiaj li hu ua tophi. Hauv cov zis, uric acid crystals pom muaj xim txiv kab ntxwv. Tsis tas li ntawd, cov pob qij txha, feem ntau me me, tau koom nrog hauv cov txheej txheem. Lawv tsim cov txheej txheem inflammatory - mob caj dab.

Cov tsos mob ntawm Lesch Nyhan syndrome
Cov tsos mob ntawm Lesch Nyhan syndrome

Kev coj cwj pwm

Tus kab mob Lesha-Nihan puas cuam tshuam rau kev ua neej thiab tus cwj pwm? Tus mob hnyav hloov tus neeg mob tus cwj pwm vim kev puas tsuaj rau lub hauv paus paj hlwb. Tus me nyuam tsis xis nyob heev, nws lub siab hloov tas li. Tshwj xeeb tshaj yog tsim nyog yog kev tawm tsam ntawm kev ua phem uas tuaj yeem tshwm sim tsis muaj laj thawj txhua lub sijhawm. Cov menyuam yaus no muaj lub siab xav ua phem rau tus kheej, uas yog, lawv ua rau tom thiab khawb rau lawv tus kheej. Qhov no yog dab tsi yog suav hais tias yog ib tug yam ntxwv tsos mob ntawm pathology. Txawm tias kev khaws cia ntawm qhov mob rhiab heev tsis txwv cov neeg mob. Tej zaum lawv yuav qw hauv qhov mob, tab sis txuas ntxiv ua rau lawv tus kheej raug mob.

Lesch Nyhan's syndrome kho
Lesch Nyhan's syndrome kho

Diagnosis

Kev kuaj mob ntawm "Lesch-Nyhan syndrome" (cov duab ntawm cov neeg mob tau nthuav tawm hauv tsab xov xwm) yog ua raws li kev kuaj mob thiab cov kev tshawb fawb tshwj xeeb ntxiv. Peb cov tsos mob tseem ceeb yuav pab qhia txog pathology. Ua tib zoo saib xyuas cov leeg nqaij ntawm lub cev convulsive, nyiam ua rau nws tus kheej raug mob thiab polyuria. Kev raug mob rau tus kheej ua lub luag haujlwm tshwj xeeb, uas yuav tsum ceeb toom cov niam txiv. Tom qab txheeb xyuas cov tsos mob, tus menyuam raug xa mus kuaj zis thiab ntshav. Biochemistry yuav tso caitxiav txim siab qib ntawm uric acid hauv cov kua hauv lub cev. Nws tseem yog ib qho tsim nyog yuav tau kuaj xyuas caj ces, uas yuav paub meej tias qhov kev kuaj mob. Ib qho ultrasound ntawm lub raum yog pom zoo kom kuaj xyuas cov kab mob hauv lawv. Tom qab lees paub tus kab mob no, tus menyuam tau sau npe nrog kws kho mob hlwb thiab kws kho mob rheumatologist.

Lesch Nyhan syndrome ua rau
Lesch Nyhan syndrome ua rau

Kev kho mob

Tshuaj thiab tshuaj tsis yog tshuaj pab kho tus mob Lesch-Nyhan. Kev kho mob yog tsom rau kev tiv thaiv cov teeb meem thiab txhim kho tus mob. Txhawm rau txo qhov kev pheej hmoo ntawm lub raum tsis ua haujlwm, nws yog ib qho tsim nyog yuav tsum txo qis qib ntawm uric acid, uas ua tiav los ntawm Allopurinol. Kev siv "Diazepam" yog pom zoo kom ua kom tus neeg mob siab thiab tshem tawm kev sim ua rau nws tus kheej raug mob. Lwm cov tshuaj sedative tuaj yeem noj. Ntxiv rau qhov no, kev saib xyuas tus cwj pwm tsis tu ncua yog tsim nyog. Nrog kev tawm tsam hnyav, kev teem caij ntawm "Risperidone" yog ua tau. Tsis tas li ntawd, cov xwm txheej ntxhov siab yuav tsum raug cais tawm. Qhov no yuav pab tus neeg mob hloov mus rau nws ib puag ncig thiab tuaj yeem sib raug zoo nrog lwm tus neeg. Kev txhawb nqa ntawm cov txheeb ze yog ib qho tseem ceeb uas yuav pab tau tus cwj pwm kom raug. Swaddling lossis hnab looj tes mos yog pom zoo los tiv thaiv tus kheej. Yav dhau los, lawv feem ntau siv rau kev tshem tawm cov hniav txhawm rau txhawm rau tshem tawm tom. Tam sim no, kev txhim kho ntawm cov tshuaj, tshwj xeeb tshaj yog kev kho hniav, tso cai rau siv cov phaj tshwj xeeb uas muab tso rau ntawm cov hniav yam tsis ua rau tus neeg mob tsis xis nyob.

Lesha Nihanasyndrome
Lesha Nihanasyndrome

Kev nyuaj siab

Zoo li feem ntau pathologies, Lesch-Nihan kab mob kuj muaj teeb meem. Cov tsos mob tuaj yeem ua rau muaj kev cuam tshuam nrog kev txuam nrog uric acid thiab hypoxanthine. Cov kev ua txhaum cai no txo txoj sia nyob thiab tsis tso cai rau kev hloov pauv hauv zej zog. Cov kab mob tseem ceeb muaj xws li mob caj dab thiab nephrolithiasis.

Kab mob ntawm cov pob qij txha yog txuam nrog kev tso tawm ntawm uric acid. Kev sib sau ntawm nws cov crystals muaj kev puas tsuaj rau pob txha mos thiab nws ib puag ncig. Raws li txoj cai, cov pob qij txha ntawm ko taw thiab tes raug cuam tshuam. Nyob rau hauv qhov chaw ntawm qhov mob, mob thiab hyperemia tshwm sim. Mob nce nrog kev txav mus los.

Lesch Nyhan's Syndrome Biochemistry
Lesch Nyhan's Syndrome Biochemistry

Nephrolithiasis (los yog lub raum pob zeb) tuaj yeem ua rau muaj teeb meem xws li pyelonephritis. Lub raum pelvis koom nrog hauv cov txheej txheem inflammatory. Tus kab mob tuaj yeem kis tau los ntawm txoj kev hematogenous lossis urinogenous thiab cuam tshuam rau cov ntaub so ntswg thiab interstitium. Nrog rau kev hloov pauv ntawm qhov mob mus rau theem ntev, cov txheej txheem ntawm irreversible sclerosis tshwm sim. Txoj kev loj hlob ntawm pathology ua rau kev tsim ntawm lub raum tsis ua haujlwm hnyav. Tshwj xeeb yog txaus ntshai yog qhov hloov ntawm cov qauv ntawm lub raum nrog cov ntaub so ntswg sib txuas, qhov no yog qhov cuam tshuam tsis zoo rau nws txoj haujlwm - tso tawm cov khoom tsis tsim nyog rau lub cev.

Qhov no yog qhov peculiarity ntawm Lesh-Nihan's pathology. Lub syndrome yog kiag li incurable. Kev kho mob yog tsom rau txo cov tsos mob ntawm tus mob thiab ua kom tus mob stabilizing. Tus neeg mob ib puag ncig thiab kev ua neej nyob ua lub luag haujlwm tseem ceeb hauv qhov no.

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