{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T16:10:06Z","timestamp":1710259806585},"reference-count":74,"publisher":"Akademiai Kiado Zrt.","issue":"17","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,4,1]]},"abstract":"<jats:p>R\u00e9g\u00f3ta ismert, hogy az ionos kalcium fontos sejten bel\u00fcli m\u00e1sodlagos h\u00edrviv\u0151 szerepet t\u00f6lt be. Az ut\u00f3bbi 15 \u00e9vben megismert k\u00eds\u00e9rletes vizsg\u00e1latok \u00e9s klinikai tanulm\u00e1nyok eredm\u00e9nyei alapj\u00e1n az is egy\u00e9rtelm\u0171v\u00e9 v\u00e1lt, hogy az ionos kalcium els\u0151dleges jelk\u00e9nt is m\u0171k\u00f6dik: az extracellul\u00e1ris kalciumion egy G-feh\u00e9rj\u00e9hez kapcsol\u00f3d\u00f3 sejtfelsz\u00edni receptort aktiv\u00e1l, amit kalcium\u00e9rz\u00e9kel\u0151 receptornak neveztek el. A szerz\u0151k \u00f6sszefoglalj\u00e1k a kalcium\u00e9rz\u00e9kel\u0151 receptor szerep\u00e9t a kalciumhomeoszt\u00e1zis fenntart\u00e1s\u00e1ban, ismertetik a receptor m\u0171k\u00f6d\u00e9s\u00e9nek sz\u00f6vetspecifikus saj\u00e1toss\u00e1gait \u00e9s azokat a k\u00f3rk\u00e9peket, amelyek a kalcium\u00e9rz\u00e9kel\u00e9s zavar\u00e1val j\u00e1rnak. A kalcium\u00e9rz\u00e9kel\u0151 receptor g\u00e9nj\u00e9nek funkci\u00f3veszt\u00e9st vagy fokozott m\u0171k\u00f6d\u00e9st okoz\u00f3 cs\u00edrasejtes mut\u00e1ci\u00f3i hyper- vagy hypocalcaemi\u00e1val j\u00e1r\u00f3 \u00f6r\u00f6kl\u0151d\u0151 betegs\u00e9geket v\u00e1ltanak ki. Az inaktiv\u00e1l\u00f3 hat\u00e1s\u00fa mut\u00e1ci\u00f3k heterozig\u00f3ta form\u00e1ban famili\u00e1ris hypocalciuri\u00e1s hypercalcaemi\u00e1t, m\u00edg homozig\u00f3ta form\u00e1ban a gyakran \u00e9letet vesz\u00e9lyeztet\u0151 \u00fajsz\u00fcl\u00f6ttkori hyperparathyreosist okozz\u00e1k. Az autoszom\u00e1lis domin\u00e1ns hypocalcaemia h\u00e1tter\u00e9ben aktiv\u00e1l\u00f3 mut\u00e1ci\u00f3k \u00e1llnak. A szerz\u0151k \u00f6sszefoglalj\u00e1k ezeknek a betegs\u00e9geknek a klinikai \u00e9s laborat\u00f3riumi jellemz\u0151it \u00e9s a kezel\u00e9s lehet\u0151s\u00e9geit. \u00c1ttekintik azokat a molekul\u00e1ris folyamatokat, amelyek primer \u00e9s szekunder hyperparathyreosisos betegekben hib\u00e1s kalcium\u00e9rz\u00e9kel\u00e9st v\u00e1ltanak ki, valamint azokat a klinikai vizsg\u00e1latokat, amelyek a kalcium\u00e9rz\u00e9kel\u0151 receptorg\u00e9n genetikai vari\u00e1ci\u00f3inak funkcion\u00e1lis k\u00f6vetkezm\u00e9nyeir\u0151l sz\u00e1molnak be.<\/jats:p>","DOI":"10.1556\/oh.2009.28602","type":"journal-article","created":{"date-parts":[[2009,4,12]],"date-time":"2009-04-12T01:01:45Z","timestamp":1239498105000},"page":"781-790","source":"Crossref","is-referenced-by-count":0,"title":["Extracellular calcium sensing under normal and pathological conditions"],"prefix":"10.1556","volume":"150","author":[{"given":"Judit","family":"T\u0151ke","sequence":"first","affiliation":[{"name":"1 Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar II. 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