
gilbert syndrome

gilbert syndrome (jee. aiss.) ack syndrome haye jisamen prabhaavit vyaktiyon kaa yakrit bilirubin koo adhikansh kii tulanaa mein adhik dheere-dheere sansaadhit kartaa haye. kaee logon mein kabhi lakshan naheen hotey hain. kabhi-kabhi peeliya (twacha kaa halka peela rung yaa aankho kaa safed) hoe sakata haye.
gilbert syndrome "yuu. jee. tii. 1aeye1" jeane mein ack aanuvanshik sanskaran key kaaran hotaa haye jisake parinamswarup bilirubin uridine diphosphate glucoronociltrancephare enzyme kii gatividhi mein kamee aatee haye. yeh aamtaur parr ack autosomal aprabhaavi pattern mein viraasat mein milata haye aur kabhi-kabhi ack autosomal pramukh pattern mein hotaa haye joe variant key prakaar parr nirbhar kartaa haye. peeliya key episode vyayam, masik dharm yaa naa khaane jaise tanaav seey utpann hoe sakate hain. nidan yakrit kii anya samasyaon yaa laal rakt koshika key tootane key sanketon key binaa rakt mein asanyugmit bilirubin key uchch star parr adharit haye.
aamtaur parr kissy upchaar kii aavashyakta naheen hoti haye. gilbert syndrome hriday swaasthya jokhimon mein kamee seey judaa huaa haye. yadi peeliya mahatvapurna phenobarbital haye tou iska upayog kiya jaa sakata haye, joe bilirubin key sanyugman mein sahaayata kartaa haye. gilbert syndrome sanyukt raajya america mein lagbhag 5 pratishat logon koo prabhaavit kartaa haye. purushon kaa aksar mahilaaon kii tulanaa mein nidan kiya jaataa haye. yeh aksar bachpan key anta seey laker praarambhik vayaskata taka naheen dekhaa jaataa haye. iss sthiti kaa varnan pahali baar 1901 mein augustin nicolaus gilbert ney kiya thaa.
sanket aur lakshan.
peeliya.
gilbert syndrome raktapravaah mein asanyugmit bilirubin kaa ack uchch star paida kartaa haye, lekin aam taur parr iska koee parinam naheen hotaa haye. halka peeliya parishram, tanaav, upvaas aur sankraman kii sthitiyon mein dikhaai dey sakata haye, lekin sthiti aamtaur parr lakshanheen hoti haye. gambhir mamalon koo twacha key peele rung aur aankh mein netrashleshma key peele honey seey dekhaa jaataa haye.
gilbert syndrome navjat peeliya kii twarit shuruat mein yogdan karane key liye bataaya gayaa haye. yeh syndrome navjat shishuon mein gambhir apratyaksh hyperbilirubinemia kaa kaaran naheen bunn sakata haye, lekin anya karakon key saath sanyukt honey parr iska badhate bilirubin parr ack saransh prabhaav hoe sakata haye, udaaharan key liye jee6peedi kii kamee jaisi beemariyon key kaaran laal rakt koshika vinash mein vriddhi kii upasthiti mein. yadi jaldi seey ilaaj naheen kiya jaataa haye tou yeh sthiti vishesh roop seey khatarnak hoe sakati haye, kyonki uchch bilirubin carnicterus key roop mein aparivartaniya tantrika sambandhi akshamta kaa kaaran banata haye.
kuchh davaaon kaa vishaharan.
jee. aiss. mein doshpurna enzyme-yuu. dee. pee. glucuronociltrancephare 1 parivaar, polypeptide aeye1 (yuu. jee. tii. 1aeye1)-kuchh davaaon koo vishaakt karane kii yakrit kii kshamata key liye bhee jimmedaar hain. udaaharan key liye, gilbert syndrome una rogiyon mein gambhir dast aur neutropania seey judaa huaa haye jinka ilaaj irinotechan seey kiya jaataa haye, joe yuu. jee. tii. 1aeye1 dwara chayapachaya kiya jaataa haye.
jabaki paracetamol (acetaminophen) yuu. jee. tii. 1aeye1 dwara chayapachaya naheen kiya jaataa haye, yeh jee. aiss. vaale kuchh logon mein anya enzymon mein seey ack dwara bhee chayapachaya kiya jaataa haye. jee. aiss. vaale logon key ack upsamooh mein paracetamol vishaaktata kaa khatra badh sakata haye.
hriday sambandhi prabhaav.
gilbert syndrome key kaaran asanyugmit bilirubin mein halki vriddhi purani beemariyon, vishesh roop seey hriday roga aur prakaar 2 madhumeh, sambandhit jokhim karakon aur sabhi karanon seey mrityu darr mein kamee seey nikatata seey sambandhit haye. avalokan adhyayan iss baat parr jore dete hain kii asanyugmit bilirubin key antioxidant prabhaav rogiyon key liye jeevit rahane key laabh laa sakate hain.
kaee vishleshanon mein paaya gayaa haye kii jee. aiss. vaale vyaktiyon mein coronary dhamani roga (see. aeye. dee.) kaa khatra kaafee cumm hoe gayaa haye.
vishesh roop seey, bilirubin key halke uchch star vaale logon (1.1 milligram/dl seey 2.7 milligram/dl) koo cadd kaa cumm khatra thaa aur bhavishya mein hriday roga kaa cumm khatra thaa. inn shodhkartaon ney 2002 taka upalabdh detta kaa ack metaa-vishleshan kiya, aur pushti kii kii jee. aiss. vaale vishayon mein atherosclerotic roga (dhamniyon kaa kathor honah) kii ghatana kaa seeram bilirubin key saath ack karibi aur vipareet sambandh thaa. iss laabhkaari prabhaav kaa shreya bilirubin ixα koo diyaa gayaa thaa, jise uchch ghanatva vaale lipoprotein key star jaise bhramit karane vaale karakon key bajaay ack shaktishali antioxidant key roop mein pahachaana jaataa haye.
yeh sambandh framingham hriday adhyayan key deerghakaalik aankadon mein bhee dekhaa gayaa thaa. jee. aiss. aur (tii. aeye.) 7/(tii. aeye.) 7 genotype vaale logon mein bilirubin key madhyam star mein vriddhi (tii. aeye.) 6/(tii. aeye.) 6 genotype (aaee.) vaale logon kii tulanaa mein coronary hriday roga aur hriday roga donon key liye ack tihai jokhim seey judee thee.ee. ack samanya, gair-utparivartit jeane locus).
gilbert syndrome key rogiyon mein platelet kii ginati aur aim. pee. vee. (ausat platelet kii matra) cumm hoe jaati haye. bilirubin key uchch star aur gilbert syndrome rogiyon mein aim. pee. vee. aur see. aar. pee. key ghatate star kaa atherosclerotic prakriya kii dheemi gati parr prabhaav parh sakata haye.
anya.
lakshan, chaahe jee. aiss. seey judey houn yaa naheen, prabhaavit logon key ack upasamuchchay mein bataae gaye hainh thakan (harr samay thakaa huaa mahsoos karna), ekagrata banaae rakhane mein kathinaaee, chinta key asamanya pattern, bhookh kii kamee, matali, pett dard, vajan mein kamee, khujali (binaa kissy daane key), aur anya, jaise haasya parivartan yaa avasaad. lekin vaigyaanik adhyayanon mein vayaskon mein asanyugmit bilirubin key uchch star seey sambandhit pratikool lakshnon kaa koee spasht pattern naheen paaya gayaa. haalaanki, gilbert syndrome vaale logon mein prabhaavit enzymon dwara glucuronidise kiye gaye anya padaarth saiddhaantik roop seey, unake vishaakt star parr, inn lakshnon kaa kaaran bunn sakate hain. natijatan, iss baare mein bahas maujood haye kii kyaa jee. aiss. koo ack bimari key roop mein vargeekrit kiya jaanaa chaahiye. haalaanki, gilbert syndrome koo pitt pathri key badhate jokhim seey jodaa gayaa haye.
kaaran.
yuu. jee. tii. 1aeye1". jeane mein utparivartan gilbert syndrome kaa kaaran banata haye. jeane bilirubin uridine diphosphate glucuronociltrancephare (bilirubin-yugat) enzyme banaane key liye nirdesh pradaan kartaa haye, joe yakrit koshikaon mein paaya jaa sakata haye aur shareer seey bilirubin koo hataane key liye jimmedaar haye.
bilirubin-yugat enzyme ack rasayanik pratikriya kartaa haye jise glucuronidation kahaa jaataa haye. glucuronic acid koo asanyugmit bilirubin mein sthanantarit kiya jaataa haye, joe ack peela rung haye joe taba banata haye jaba aapka shareer purani laal rakt koshikaon koo toda detaa haye, aur phir pratikriya key dauran sanyugmit bilirubin mein parivartit hoe jaataa haye. sanyugmit bilirubin yakrit seey pitt key saath aanton mein jaataa haye. phir ise mull mein utsarjit kiya jaataa haye.
gilbert syndrome vaale logon mein samanya bilirubin-agt enzyme kaary kaa lagbhag 30 pratishat hotaa haye, joe asanyugmit bilirubin key glucuronidation kii cumm darr mein yogdan detaa haye. yeh padaarth taba shareer mein jamaa hoe jaataa haye, jisase halka hyperbilirubinemia hotaa haye.
aanuvanshiki.
gilbert syndrome ack phenotypic prabhaav haye, joe jyaadaatar rakt mein bilirubin key star mein vriddhi seey judaa hotaa haye, lekin kabhi-kabhi asanyugmit bilirubin mein vriddhi key kaaran halke peeliya kii visheshta bhee hoti haye, joe bilirubin koo sanyugmit roop mein badalane key liye jimmedaar enzyme key liye jeane key kaee alag-alag genotypic roopon seey utpann hotaa haye.
gilbert syndrome kii visheshta enzyme (yuu. jee. tii. 1aeye1) kii glucoronidation gatividhi mein kamee haye. yuu. jee. tii. 1aeye1". jeane maanav gunasutra 2 parr sthit haye.
ugt1a1" jeane key 100 seey adhik bahuroopataon koo "ugt1a1 * n" key roop mein naamit kiya jaataa haye (jahaan n khoj kaa samanya kalanukramik crum haye), yaa tou jeane kaa yaa isake pravartak kshetra kaa. "ugt1a1" ack taata boxes pravartak kshetra seey judaa huaa haye; iss kshetra mein aamtaur parr aanuvanshik anukram a (ta) 6taa hotaa haye; yeh sanskaran kaee aabaadi mein lagbhag 50 pratishat elil key liye jimmedaar haye. haalaanki, iss kshetra key kaee elilic bahuroopi roop hotey hain, jinamen seey sabse aam parinam pravartak kshetra mein ack aur dynucleotide repeat taa jodane key parinamswarup hotaa haye, jisake parinamswarup ack (tiye) 7taa, jise "ugt1aeye1 * 28" kahaa jaataa haye; yeh samanya roop kuchh aabaadi mein lagbhag 40 pratishat elil key liye jimmedaar haye, lekin dakshin poorv aur poorv asiai logon aur prashant dweepwasiyon mein lagbhag 3 pratishat elil cumm dekhaa jaataa haye.
adhikansh aabaadi mein, gilbert syndrome aamtaur parr homozygus aeye (tiye) 7taa elil key saath judaa hotaa haye. 94 pratishat jee. aiss. mamalon mein, dou anya glucoronociltrancephare enzyme, yuu. jee. tii. 1aeye. 6 (50 pratishat nishkriya) aur yuu. jee. tii. 1aeye. 7 (83 pratishat aprabhaavi) bhee prabhaavit hotey hain.
haalaanki, gilbert syndrome binaa taata boxes promoter bahuroopi roopon key utpann hoe sakata haye; kuchh aabaadi mein, vishesh roop seey swasth dakshin poorv aur purvi asiai, gilbert syndrome aksar vishamjaivik missense utparivartan kaa parinam haye (jaise gly71aarg jise "ugt1aeye1 * 6" key roop mein bhee jaanaa jaataa haye, tyre486asp jise "ugt1aeye1 * 7" key roop mein bhee jaanaa jaataa haye, pro364leu koo "ugt1aeye1 * 73" key roop mein bhee jaanaa jaataa haye) vaastavik jeane coding kshetra mein, joe kaafee uchch bilirubin staron seey judaa hoe sakata haye.
dawa aur bilirubin key tootane parr isake prabhaavon key kaaran aur isaki aanuvanshik viraasat key kaaran, gilbert syndrome koo chayapachaya kii ack chhoti janmajaat truti key roop mein vargeekrit kiya jaa sakata haye.
nidan.
jee. aiss. vaale logon mein mukhya roop seey asanyugmit bilirubin kii matra adhik hoti haye, jabaki sanyugmit bilirubin aamtaur parr samanya seema key bheetar hotaa haye yaa kull key 20 pratishat seey cumm hotaa haye. jee. aiss. rogiyon mein bilirubin kaa star 20 microne seey 90 microne (1.2 seey 5.3 milligram/dee. ell.) taka honey kii soochana haye, jabaki samanya matra 20 microne seey cumm haye. jee. aiss. rogiyon mein asanyugmit/sanyugmit (apratyaksh/pratyaksh) bilirubin kaa anupaat jee. aiss. key binaa logon kii tulanaa mein adhik hotaa haye.
yadi dou dinon key upvaas key baad rakt kaa namuna liya jaataa haye tou kull bilirubin kaa star aksar aur badh jaataa haye, aur isaliye upvaas nidan key liye upayogi hoe sakata haye. ack aur vaichaarik kadam joe shayed hii kabhi aavashyak yaa upayukt hotaa haye, vaha haye phenobarbital kii cumm khuraak denaah bilirubin mein kaafee kamee aaegi.
pareekshan polymerase shrinkhala pratikriya yaa dna tukade anukraman dwara "ugt1aeye1" key dna roopon kaa bhee pataa lagaa sakate hain.
vibhedak nidan.
jabaki gilbert syndrome koo haanirahit maanaa jaataa haye, yeh chikitsakiya roop seey mahatvapurna haye kyonki yeh rakt yaa yakrit kii sthiti key baare mein chinta koo janm dey sakata haye, joe adhik khatarnak hoe sakata haye. haalaanki, inn sthitiyon mein atirikt sanketak hainh
upchaar.
aamtaur parr kissy upchaar kii aavashyakta naheen hoti haye. yadi peeliya mahatvapurna haye tou phenobarbital kaa upayog kiya jaa sakata haye.
itihas.
gilbert syndrome kaa varnan pahali baar 1901 mein francisi gastroenterologist augustin nicolaus gilbert aur saha-kaaryakartaon dwara kiya gayaa thaa. german saahitya mein, yeh aamtaur parr gens enar meulengract seey judaa huaa haye.
iss vikaar key liye vaikalpik, cumm samanya naamon mein shamil hainh

