
janmajaat saamaanyikrit lipodystrophy

janmajaat saamaanyikrit lipodystrophy (jise berardinelli-sip lipodystrophy key roop mein bhee jaanaa jaataa haye) ack atyant durlabh autosomal aprabhaavi sthiti haye, jisaki visheshta twachiya ootakon mein vasaa kii atyadhik kamee haye. yeh ack prakaar kaa lipodystrophy vikaar haye jahan vasaa kii kamee kaa parimaan chayapachaya jatilataon kii gambhirta koo nirdhaarit kartaa haye. iss sthiti key kewal 250 mamle saamane aae hain, aur yeh anuman lagaaya gayaa haye kii yeh duniya bhar mein 1 karod mein seey 1 logon mein hotaa haye.
prastuti.
janmajaat saamaanyikrit lipodystrophy (see. jee. ell.) ack durlabh autosomal aprabhaavi vikaar haye joe insulin pratirodh, twacha key neeche kii vasaa kii anupasthiti aur maanspeshiyon key atee-prabhaav key saath prakat hotaa haye. chaar jeane mein samroopata yaa yaugik vishamjaivika utparivartan see. jee. ell. key chaar upprakaron seey judey hotey hain. yeh sthiti praarambhik bachpan mein twarit raikhik vikas, haddiyon kii twarit umr badhane aur badee bhookh key saath dikhaai detee haye. jaise-jaise bachcha badaa hotaa haye, acanthosis nigrican (twacha kaa atee varnak aur motaa honah) poore shareer mein khud koo prastut karna shuru curr dega-mukhya roop seey gardan, dhad aur groin mein. iss vikaar mein hepatomagly yaa ack badhe hue yakrit jaisi visheshataaen bhee hain joe vasaayukt yakrit seey utpann hoti hain aur isase serosis, maanspeshiyon mein atee-vriddhi, vasaa ootak kii kamee, pliha-pratyushti, harsuitism (atyadhik baalon kaa honah) aur atee-glyceridemia hoe sakata haye. vasaayukt yakrit aur maanspeshiyon kaa atee-krishata iss tathya seey utpann hoti haye kii lipid inn kshetron mein sangraheet hotey hain; jabaki ack swasth vyakti mein, lipid poore shareer mein twacha key neeche adhik samaan roop seey vitarit hotey hain. vasaa ootak kii anupasthiti jahan way aam taur parr hotey hain, shareer koo shesh kshetron mein vasaa sangraheet karane kaa kaaran banati haye. iss syndrome seey sambandhit aam hriday sambandhi samasyaaen cardiac hypertrophy aur dhamani uchch raktchaap (uchch raktchaap) hain. yeh vikaar chayapachaya syndrome kaa kaaran bhee bunn sakata haye. iss vikaar key saath adhikansh mein ack pramukh naabhi yaa naabhi hernia bhee hotaa haye. aamtaur parr, rogiyon koo haath, pair aur jabade key badhane key saath acromagelli bhee hogi. yuvavastha key baad, atirikt lakshan vikasit hoe sakate hain. mahilaaon mein, clitoromagly aur polycystic andashay syndrome vikasit hoe sakata haye. yeh mahilaaon key liye prajanan kshamata koo baadhit kartaa haye, aur see. jee. ell. vaali mahilaaon mein safal garbhavastha key kewal kuchh pralekhit mamle maujood hain. haalaanki, iss vikaar seey peedit purushon kii prajanan kshamata aprabhaavit haye.
prakaar 1 banaam prakaar 2 antar.
iss baat mein antar haye kii kiss prakaar 1 banaam prakaar 2 key rogi bimari seey prabhaavit hotey hain. type 1 rogiyon mein, unake paas abhee bhee yaantrik vasaa ootak hotaa haye, lekin type 2 rogiyon key paas yaantrik sahit koee vasaa ootak naheen hotaa haye. type 2 rogiyon mein, manoprerak mandata aur bauddhik haani kii adhik sambhavana hoti haye.
tantra.
prakaar 1.
type 1 see. jee. ell. vaale vyaktiyon mein, yeh vikaar aeye. jee. pee. tii. 2 jeane encoding 1-asylglycerol-3-phosphat oh-asyltranspherase 2 mein ack utparivartan key kaaran hotaa haye aur 9q34.3 parr sthit hotaa haye. yeh enzyme lysophosphatidic acid key assilation koo utprerit kartaa haye aur phosphatidic acid banaata haye, joe vasaa key jaiv sanshleshan mein mahatvapurna haye. yeh enzyme vasaa ootak mein atyadhik vyakt hotaa haye, isaliye yeh nishkarsh nikala jaa sakata haye kii jaba enzyme see. jee. ell. mein doshpurna hotaa haye, tou lipid koo vasaa ootak mein sangraheet naheen kiya jaa sakata haye.
prakaar 2.
jinn logon mein type 2 see. jee. ell. haye, unamen bee. aiss. see. ell. 2 jeane mein ack utparivartan joe seepin protein koo encoding kartaa haye aur 11 kyu. 13 parr sthit haye. yeh jeane ack protein, seepin koo encode kartaa haye, jiska kaary agyaat haye. seepin protein key liye aim. aar. aine. aeye. kii abhivyakti mastishk mein adhik hoti haye, phir bhee vasaa ootakon mein cumm hoti haye. isake alawa, jinn rogiyon mein iss protein mein utparivartan hotaa haye, unamen mansik mandata kii adhik ghatana hoti haye aur unamen yaantrik roop seey sakriya vasaa ootak kii kamee hoti haye, joe aeye. jee. pee. tii. 2 utparivartan vaale logon mein maujood hotaa haye.
prakaar 3.
type 3 see. jee. ell. mein cave1 jeane mein utparivartan shamil haye. yeh jeane caveolin protein key liye code kartaa haye, joe ack machaan jhilli protein haye. yeh protein lipid key niyaman mein bhoomika nibhaata haye. cave1 kaa uchch star aam taur parr edipocytes mein vyakt kiya jaataa haye. iss prakaar, jaba cave1 jeane utparivartit hotaa haye tou edipocytes mein cave1 naheen hotaa haye aur way lipid key star koo thheek seey niyantrit karane mein asamarth hotey hain.
prakaar 4.
pee. tii. aar. aff. jeane mein utparivartan prakaar 4 see. jee. ell. kaa kaaran banata haye. yeh jeane polymerase aaee naamak protein aur transcript release factor key liye code kartaa haye. pee. tii. aar. aff. utpaad kii bhoomikaon mein seey ack yeh haye kii yeh caviola key gathan mein sthir aur sahaayata kartaa haye. iss prakaar, tantra prakaar 3 key samaan haye, jisamen caviola donon mein lipid viniyaman mein apani bhoomika koo thheek seey banaane aur puuraa karane mein asamarth hain. prakaar 3 aur 4 dou alag-alag utparivartan hain lekin way ack samanya doshpurna maarg saajha karate hain.
nidan.
roga key shaaririk lakshnon koo dekhane key baad see. jee. ell. kaa chikitsa nidan kiya jaa sakata haih mastishk, angon aur chehare koo prabhaavit karane vaale lipoetrophy (vasaa ootakon kaa nuksan); hepatomagely; acromagelli; insulin pratirodh; aur triglycerides key uchch seeram star. aanuvanshik pareekshan bhee bimari kii pushti curr sakata haye, kyonki aeye. jee. pee. tii. 2 jeane mein utparivartan see. jee. ell. 1 kaa sanket haye, bee. aiss. see. ell. 2 jeane mein utparivartan see. jee. ell. 2 kaa sanket haye, aur cave 1 aur pee. tii. aar. aff. jeane mein utparivartan kramshah see. jee. ell. 3 aur see. jee. ell. 4 kaa sanket haye. see. jee. ell. kaa shaaririk nidan aasaan haye, kyonki see. jee. ell. key rogi janm seey hii pehchaan sakate hain, kyonki unaki atyadhik maanspeshiyon kii upasthiti, joe twacha key neeche kii vasaa kii anupasthiti key kaaran hoti haye.
see. jee. ell. 3 rogiyon mein seeram creatin kinnez sandrata samanya seey bahut adhik hoti haye (samanya seema seey 2.5 seey 10 gunaa). iska upayog prakaar 3 key rogiyon kaa nidan karane aur unake jeane kaa maanchitran kiye binaa unhein see. jee. ell. 1 aur 2 seey alag karane key liye kiya jaa sakata haye. isake alawa, anya see. jee. ell. rogiyon kii tulanaa mein see. jee. ell. 3 rogiyon kii maanspeshiyon kii tone cumm hoti haye.
upchaar.
metformin upchaar key liye upayog kii jaane vaali mukhya dawa haye, kyonki iska upayog aamtaur parr hyperglycemia key rogiyon key liye kiya jaataa haye. metformin bhookh koo cumm kartaa haye aur yakrit steatosis aur polycystic andashay syndrome key lakshnon mein sudhaar kartaa haye. leptin kaa upayog insulin pratirodh aur yakrit steatosis koo ulatane, bhojan kaa sevan cumm karane aur rakt sharkara key star koo cumm karane key liye bhee kiya jaa sakata haye.
aahar.
see. jee. ell. rogiyon koo jeevan bhar key liye ack sakht aahar banaae rakhna padata haye, kyonki unaki atirikt bhookh unhein adhik khaane kaa kaaran banegi. inn rogiyon mein carbohydrate kaa sevan seemit honah chaahiye. kylomicronemia seey bachane key liye, hypertriglyceridamia vaale see. jee. ell. rogiyon koo vasaa mein bahut cumm aahar lene kii aavashyakta hoti haye. see. jee. ell. rogiyon koo rakt mein collestroll key uchch star seey bachane key liye kull protein, trance vasaa seey bachane aur ghulansheel fiber kii uchch matra khaane kii bhee aavashyakta hoti haye.
itihas.
janmajaat saamaanyikrit lipodystrophy, jise berardinelli-sip lipodystrophy key roop mein bhee jaanaa jaataa haye, kaa varnan pahali baar 1954 mein berardinelli dwara aur baad mein 1959 mein sip dwara kiya gayaa thaa. prakaar 1 see. jee. ell. key liye jeane kii pehchaan gunasutra 9kyu34 mein agpet 2 key roop mein kii gaee thee, aur baad mein prakaar 2 see. jee. ell. key liye jeane kii pehchaan gunasutra 11kyu13 mein bee. aiss. see. ell. 2 key roop mein kii gaee thee. haal hii mein, prakaar 3 see. jee. ell. kii pehchaan ack alag prakaar key see. jee. ell. key roop mein kii gaee thee, jise cave 1 jeane mein ack utparivartan key roop mein pahachaana gayaa thaa. phir, ack alag prakaar 4 see. jee. ell. kii pehchaan pee. tii. aar. aff. jeane mein ack utparivartan key roop mein kii gaee.

