Lesch - Nyhan syndrome: yees duab ntawm qub txeeg qub teg, cov ua, cov tsos mob, kev kho mob

Lesch syndrome - Nyhan ntaus nqi mus rau raws roj ntsha cov kab mob uas yog txuam nrog metabolic mob. Tus kab mob manifests nws tus kheej nyob rau hauv thawj lub hlis ntawm lub neej. Nws yog txaus ntshai vim hais tias nws tsis yog tiv thaiv ib qho kev kho mob. Kev kho mob tsuas pab mus rau stabilize tus mob, tab sis tsis tau kiag li kho tus me nyuam, nyob rau hauv lub hauv paus ua rau. Yuav ua li cas yog cov yam ntxwv ntawm tus kab mob no? Yuav ua li cas yog qhov yuav ua xws li ib tug syndrome?

txhais

Ntawm cov uas tsis tshua muaj ntshawv siab ntawm purine metabolism paim txawv txav Lesch - Nyhan. syndrome tshwm sim ntau zaus nyob rau hauv cov tub hluas, raws li txuas rau X-chromosome. Nws yog txuam nrog ib tug enzyme deficiency, uas tau nyob rau hauv cov kev pauv ntawm uric acid yog lawm, nws kom muaj nuj nqis tsub kom. Lub tsub zuj zuj ntawm no yam khoom uas yog qhia nyob ib sab thiab metabolic neurological tshwm sim thiab cov uas muaj peev xwm yuav xav tias muaj mob. Cov coj txawv txawv cwj pwm ntawm tus me nyuam yuav tsum tau kev kho mob soj ntsuam, uas muaj xws li lub ua ke thiab tsom xam ntawm ntau caj ces kev xeem.

etiology

Yuav ua li cas yog vim li cas syndrome Lesch - Nyhan? Cov ua rau tus kab mob no yog rooted nyob rau hauv kev tshuaj ntsuam genetic ntshawv siab. Qhov no txhais tau tias cov kev loj hlob ntawm lub pathology ntawm lub xub ntiag ntawm ib tug recessive noob nyob rau hauv lub niam - txiv neej pw-txuas kho raws. Paub meej ntawm tus txheej txheem yog piav hauv qab no. Lub xub ntiag ntawm no noob tsis yeej ib txwm ua rau txoj kev loj hlob ntawm lub syndrome - qhov tshwm sim yog 25%. Nyob rau hauv kev txiav txim rau kev ntsuam xyuas kev pheej hmoo ntawm tus kab mob, nws yog pom zoo nqa tawm kev kho mob thiab kev tshuaj ntsuam genetic tswv yim.

ib tug kev tshuaj ntsuam genetic teeb meem

Syndrome Lesch - Nyhan (recessive hom ntawm qub txeeg qub teg, txiv neej pw-txuas) yog ib tug loj heev pub tus kab mob. Nws yog txuam nrog ib tug lesion ntawm cov noob HPRT (hypoxanthine-guanine phosphoribosyltransferase), uas yog nyob rau ntawm tus X-chromosome - nyob rau hauv nws ntev caj npab. Nyob rau hauv cov poj niam, muaj ob tug chromosomes thiab txiv neej muaj ib tug, uas yog vim li cas caj teeb meem yog ntau ntau nyob rau hauv cov txiv neej. Cov neeg mob ntawm lub syndrome nyob rau hauv cov poj niam yog tsis tshua muaj, thiab nws cov tsos tau ntaus nqi mus rau X-inactivation.

biochemical nta

Vim enzyme mob manifested syndrome Lesch - Nyhan. Biochemistry nws yog tsis muaj peev xwm ntawm hypoxanthine-guanine. Nyob rau hauv tej yam kev mob, qhov no enzyme tshwm sim nyob rau hauv tag nrho cov hlwb, tiam sis feem ntau ntawm nws yog nyob rau hauv lub xov tooj ntawm neurons ntawm lub paj hlwb. Caj teeb meem ua rau nws tsis tuaj kawm ntawv, ua rau disturbed pauv hypoxanthine. Qhov no ua ntev li ntawm nqi ntawm uric acid uas yog kuaj tau los ntawm seev nyob rau hauv cov zis thiab ntshav. Yog vim li cas tus neeg mob muaj cov tsos mob ntawm gout.

Nta ib hlwb txha nqaj qaum kua. Nws tsub kom cov theem ntawm hypoxanthine, tsis uric acid. Qhov no ua rau hlwb txawv txav, thiab uric acid los ntawm cov ntshav-hlwb barrier kom dhau tsis tau. Lub etiology ntawm tus cwj pwm mob yog tsis tam sim no ntsia. Zaum tsis nyob qib qub nrog ib tug dhau heev lawm ntawm hypoxanthine thiab uric acid. Nws yog ntseeg hais tias hyperuricemia ua rau ib tug tsis muaj dopamine. Tsim meem kev txhawj xeeb D1-receptors nyob rau hauv striatal neurons. Qhov no tej zaum yuav ua rau muaj zog aggression.

soj ntsuam ces

Txij li thaum genetic mob txuam yuav ua li cas lub syndrome manifests nws tus kheej Lesch - Nyhan. Cov tsos mob ntawm tus kab mob feem ntau muaj kev cuam tshuam kev puas tsuaj rau lub paj hlwb. Cov neeg mob kev txhawj xeeb qhia convulsions, thaum tu-sauv lob ib co nqaij pawg. giperkinezy kuj ntau, manifested laim nqua raws li ib tug tshwm sim ntawm txawj nce nyob rau hauv cov nqaij laus. Cov me nyuam nrog rau qhov no syndrome yog lagging qab nyob rau hauv lub cev thiab kev puas hlwb txoj kev loj hlob: lawv hais lus yog slurred, tejzaum nws ib tug lig pib taug kev. Tej yam nyob rau hauv cov kev ua ntawm lub vagus paj ua rau muaj zog gag reflex: plab muab nchuav tshwm sim tsis muaj yog vim li cas. Nyob rau hauv tas li ntawd, cov nquag tuag tes tuag taw thiab epileptic qaug dab peg. Tus kab mob yog txuam nrog metabolic mob, li no yuav ua tau rau cov kev mob. Ib hnub, feem ntau, ib tug loj npaum li cas ntawm cov zis, uas yog kev cob cog rua nrog ib tug nqhis dej tas li thiab lub raum pathology. Uric acid yog tsim nyob rau hauv lub earlobes, ua rau lub tsim ntawm thiaj li hu ua tophi. Nyob rau hauv cov zis kuaj uric acid muaju muaj ib tug txiv kab ntxwv xim. Tsis tas li ntawd, cov txheej txheem muab kev koom tes cov pob qij txha, feem ntau me me. Lawv tsim o - kev mob caj dab.

tus cwj pwm

Puas muaj cov lifestyles thiab cwj pwm tsis zoo ntawm tus kab mob Lesch - Nyhan? Syndrome tiag hloov tus cwj pwm ntawm tus neeg mob vim lub Cns. Tus me nyuam ua heev nyob tsis tswm, nws mus ob peb vas lossi hloov. Tshwj xeeb yog noteworthy lub sijhawm uas nws aggression uas yuav tshwm sim yam tsis tau ua nyob rau txhua lub sij hawm. Cov me nyuam no muaj ib tug ib txwm rau nws tus kheej-mob, uas yog tam sim no thov mus rau tom thiab khawb. Nws yog suav tias yog ib tug yam ntxwv cov tsos mob ntawm lub pathology. Txawm tswj tag nrho rhiab heev rau mob tsis txhob mob. Tej zaum lawv yuav quaj tawm nyob rau hauv mob, tab sis tseem kom lwm tus kheej-kev tsim txom.

diagnostics

Tus kab mob "syndrome Lesch - Nyhan" (duab ntawm cov neeg mob uas hais nyob rau hauv tsab xov xwm) yog raws li nyob rau hauv cov kev soj ntsuam kev soj ntsuam thiab tshwj xeeb ntxiv cov kev tshawb fawb txoj kev. Pom pathology pab peb lub ntsiab mob. Xyuam xim rau cov leeg mob convulsive xwm, ib tug ib txwm rau nws tus kheej-kev tsim txom thiab polyuria. Ib tug tshwj xeeb lub luag hauj lwm no yog ua si los ntawm kev poob plig nws tus kheej uas yuav tsum tau ceeb toom rau cov niam txiv. Tom qab paub tus me nyuam cov tsos mob xa mus rau cov zis thiab ntshav tsom xam. Biochemistry yuav txiav txim seb lub theem ntawm uric acid nyob rau hauv cov roj ntsha cev. Nws tseem yog tsim nyog los ua kev tshuaj ntsuam genetic kev xeem, uas paub tseeb hais tias tus mob. Nws pom zoo hais tias ib tug raum ultrasound mus ntes pathology nyob rau hauv lawv. Tom qab kev pom zoo ntawm tus kab mob tus me nyuam twg thiaj li raug sau npe mus rau ib tug neurologist thiab ib tug rheumatologist.

kev kho mob

Pharmacological thiab uas tsis yog-pharmacological txoj kev los pab kho cov syndrome Lesch - Nyhan. Kev kho mob yog aimed ntawm kev tiv thaiv ntawm cov teeb meem thiab kev txhim kho. Yuav kom txo tau txoj kev pheej hmoo ntawm tsim ntawm lub raum tsis ua hauj lwm yuav tsum txo uric acid theem, uas mus txog "Allopurinol". Nws yog pom zoo kom siv "Diazepam" kom zoo ntaug tus neeg mob thiab tshem tawm cov me nyuam no yuav ua kev puas tsuaj rau nws tus kheej. Koj yuav tau txais lwm yam sedatives. Ntxiv rau qhov yuav tsum tau kom muaj kev tswj ntawm tus cwj pwm. Thaum txhoj puab heev tawm tsam yuav tsum "Risperidone". Tsis tas li ntawd, nws yuav tsum tshem tawm stressful lub sijhawm. Qhov no yuav pab tau tus neeg mob kom hloov mus rau nws ib puag ncig thiab nkag mus rau hauv nyob sib ze nrog rau lwm cov neeg. Kev them nyiaj yug rau tsev neeg yog ib qho tseem ceeb tshaj uas yuav pab tau los kho tus cwj pwm. pom zoo qwv nws pawm los yog mos hnab looj tes yuav tiv thaiv tau los ntawm nws tus kheej-kev tsim txom. Peb tau feem ntau resorted mus rau qhov kev tshem tawm ntawm cov hniav, nyob rau hauv thiaj li yuav tiv thaiv kom txhob tom. Thaum lub caij, txoj kev loj hlob ntawm cov tshuaj, xws li kev kho hniav, tso cai rau kev siv ntawm tshwj xeeb cov phiaj, uas yog muab tso rau hauv cov hniav, tsis tas yuav ua tsis xis nyob rau tus neeg mob.

teeb meem

Zoo li feem ntau pathologies, muaj teeb meem thiab tus kab mob Lesch - Nyhan. Lub syndrome tej zaum yuav ua rau txim txuam nrog tsub zuj zuj ntawm uric acid thiab hypoxanthine. Cov mob kom lub neej thiab tiv thaiv kom txhob txwm kom hloov mus rau lub koom txoos. Cov qhia ntshawv siab - mob caj dab thiab nephrolithiasis.

Joint o yog txuam nrog hauv ntawm uric acid. Sawv muaju nws muaj puas tsuaj rau cov pob txha mos cov ntaub so ntswg thiab nws cov ib puag ncig. Feem ntau muaj feem xyuam rau cov pob qij txha ntawm tus taw thiab ob txhais tes. Nyob rau hauv lub teb ntawm o tshwm sim ce thiab liab. Mob syndrome tsub kom nrog lub zog.

Nephrolithiasis (raum pob zeb los yog) tej zaum yuav raug nyob rau hauv xws teeb meem raws li pyelonephritis. Lub inflammatory txheej txheem lub raum plab mog. Kab mob yuav kis tau los yog hematogenous urinogennym thiab los ntawm ciav cov ntaub so ntswg thiab interstitium. Thaum mus nyob rau hauv lub mob theem ntawm o txhais irreversible dab sclerosis. kab mob loj hlob ua rau cov tsim kev kub ntxhov ntawm lub raum insufficiency. Tshwj xeeb tshaj yog txaus ntshai yog cov kev hloov ntawm cov yam ntxwv hais txog qhov connective cov ntaub so ntswg ntawm lub raum, nws yog irreversibly infringed nws muaj nuj nqi - qhov qee ntawm ruaj cev.

Cov no yog cov yam ntxwv ntawm pathology Lesch - Nyhan. Syndrome yog kiag li incurable. Kev kho mob tswj kom txhob muaj kev soj ntsuam cov tsos mob thiab stabilization lub xeev. Tseem ceeb luag hauj lwm nyob rau hauv no ua si rau cov neeg mob ib puag ncig thiab nyob tej yam kev mob.