{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T14:16:54Z","timestamp":1699885014706},"reference-count":19,"publisher":"Akademiai Kiado Zrt.","issue":"31","license":[{"start":{"date-parts":[[2022,7,31]],"date-time":"2022-07-31T00:00:00Z","timestamp":1659225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,7,31]]},"abstract":"<jats:p>Terhess\u00e9gben a hypercalcaemia ritka elv\u00e1ltoz\u00e1s. A leggyakrabban primer\n                    hyperparathyreosis vagy parathormon-szer\u0171 feh\u00e9rj\u00e9t termel\u0151 malignus daganat\n                    okozza. Ritk\u00e1bban fokozott intestinalis kalciumfelsz\u00edv\u00f3d\u00e1s,\n                    D-vitamin-intoxik\u00e1ci\u00f3, tejalk\u00e1li-szindr\u00f3ma \u00e1llhat az elt\u00e9r\u00e9s h\u00e1tter\u00e9ben,\n                    valamint granulomatosus betegs\u00e9gek \u00e9s lymphom\u00e1k, amelyekben a 25(OH)D-vitamin\n                    1\u03b1-hidroxil\u00e1z enzim okozta expresszi\u00f3ja megn\u00f6vekedett. A gestati\u00f3s\n                    hypercalcaemia rendk\u00edv\u00fcl ritka oka lehet ezek mellett a D-vitamin-katabolizmus\n                    zavara a <jats:italic>CYP24A1<\/jats:italic>-g\u00e9n funkci\u00f3veszt\u0151 mut\u00e1ci\u00f3i miatt.\n                    K\u00f6zlem\u00e9ny\u00fcnkben egy 34 \u00e9ves kauk\u00e1zusi n\u0151beteg eset\u00e9t mutatjuk be, akin\u00e9l\n                    hypercalcaemia mellett norm\u00e1lis intakt parathormon-koncentr\u00e1ci\u00f3 \u00e9s bal als\u00f3\n                    mell\u00e9kpajzsmirigy-adenoma igazol\u00f3dott. Malignus tumor kutat\u00e1s\u00e1t c\u00e9lz\u00f3\n                    kivizsg\u00e1l\u00e1sa k\u00f3rjelz\u0151 elt\u00e9r\u00e9st nem igazolt, ezt k\u00f6vet\u0151en a bal als\u00f3\n                    mell\u00e9kpajzsmirigy-adenoma elt\u00e1vol\u00edt\u00e1sra ker\u00fclt. A posztoperat\u00edv ellen\u0151rz\u00e9sek\n                    sor\u00e1n a hypercalcaemia megsz\u0171n\u00e9s\u00e9t \u00e9szlelt\u00fck. A mell\u00e9kpajzsmirigy-adenoma\n                    elt\u00e1vol\u00edt\u00e1sa ut\u00e1n 15 h\u00f3nappal 8 hetes gravidak\u00e9nt spont\u00e1n elvet\u00e9lt, ekkor a\n                    sz\u00e9rumkalcium \u00e9rt\u00e9ke a referenciatartom\u00e1ny fels\u0151 hat\u00e1r\u00e1n volt. 25 h\u00f3nap m\u00falva,\n                    12 hetes v\u00e1rand\u00f3sk\u00e9nt parathormon-independens hypercalcaemia igazol\u00f3dott, ekkor\n                    k\u00f3rh\u00e1zi felv\u00e9telre ker\u00fclt. A 25(OH)D-vitamin \u00e9s a parathormon-szer\u0171 feh\u00e9rje\n                    koncentr\u00e1ci\u00f3j\u00e1t a referenciatartom\u00e1nyon bel\u00fcl regisztr\u00e1ltuk, m\u00edg az\n                    1,25(OH)2D-szint kifejezetten emelkedett volt. A terhess\u00e9gi hypercalcaemia\n                    h\u00e1tter\u00e9ben a <jats:italic>CYP24A1-<\/jats:italic>g\u00e9nnek a D-vitamin-metabolizmus zavar\u00e1t\n                    okoz\u00f3 \u201ecompound\u201d heterozig\u00f3ta mut\u00e1ci\u00f3j\u00e1t igazoltuk. A beteg konzervat\u00edv kezel\u00e9se\n                    mellett a terhess\u00e9g sor\u00e1n egy\u00e9b sz\u00f6v\u0151dm\u00e9nyt nem \u00e9szlelt\u00fcnk, v\u00e9g\u00fcl terminusban,\n                    cs\u00e1sz\u00e1rmetsz\u00e9s \u00fatj\u00e1n eg\u00e9szs\u00e9ges le\u00e1nygyermeket sz\u00fclt. A k\u00f6zlem\u00e9ny bemutatja a\n                    terhess\u00e9g alatt \u00e9szlelt hypercalcaemia k\u00f3rism\u00e9j\u00e9nek \u00e9s ter\u00e1pi\u00e1j\u00e1nak neh\u00e9zs\u00e9geit.\n                    Tudom\u00e1sunk szerint beteg\u00fcnk a Magyarorsz\u00e1gon diagnosztiz\u00e1lt els\u0151 CYP24A1-hi\u00e1nyos\n                    eset. Orv Hetil. 2022; 163(31): 1237\u20131242.<\/jats:p>","DOI":"10.1556\/650.2022.32520","type":"journal-article","created":{"date-parts":[[2022,11,19]],"date-time":"2022-11-19T00:31:04Z","timestamp":1668817864000},"page":"1237-1242","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":1,"title":["A CYP24A1-g\u00e9n terhess\u00e9gi hypercalcaemi\u00e1t okoz\u00f3 defektusa"],"prefix":"10.1556","volume":"163","author":[{"given":"Andrea","family":"Gy\u00f6rk\u00f6s","sequence":"first","affiliation":[{"name":"Zala Megyei Szent Rafael K\u00f3rh\u00e1z, I. 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J Clin Endocrinol Metab. 2012; 97: E268-E274.","DOI":"10.1210\/jc.2011-1972"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1056\/NEJMoa1103864","article-title":"Mutations in CYP24A1 and idiopathic infantile hypercalcemia","volume":"365","author":"12 Schlingmann","year":"2011","unstructured":"12 Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011; 365: 410-421.","journal-title":"N Engl J Med"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"105611","DOI":"10.1016\/j.jsbmb.2020.105611","article-title":"Gestational hypercalcemia: prevalence and biochemical profile","volume":"199","author":"13 Schoenmakers","year":"2020","unstructured":"13 Schoenmakers I, Piec I, Baban S, et al. Gestational hypercalcemia: prevalence and biochemical profile. J Steroid Biochem Mol Biol. 2020; 199: 105611.","journal-title":"J Steroid Biochem Mol Biol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1440","DOI":"10.1210\/jc.2016-4048","article-title":"CYP3A4 induction by rifampin: an alternative pathway for vitamin D inactivation in patients with CYP24A1 mutations","volume":"102","author":"14 Hawkes","year":"2017","unstructured":"14 Hawkes CP, Li D, Hakonarson H, et al. CYP3A4 induction by rifampin: an alternative pathway for vitamin D inactivation in patients with CYP24A1 mutations. J Clin Endocrinol Metab. 2017; 102: 1440-1446.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1210\/er.2016-1070","article-title":"Vitamin D-mediated hypercalcemia: mechanisms, diagnosis, and treatment","volume":"37","author":"15 Tebben","year":"2016","unstructured":"15 Tebben PJ, Singh RJ, Kumar R. Vitamin D-mediated hypercalcemia: mechanisms, diagnosis, and treatment. Endocr Rev. 2016; 37: 521-547.","journal-title":"Endocr Rev"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1093\/ndt\/gft460","article-title":"Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure","volume":"29","author":"16 Colussi","year":"2014","unstructured":"16 Colussi G, Ganon L, Penco S, et al. Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure. Nephrol Dial Transplant. 2014; 29: 636-643.","journal-title":"Nephrol Dial Transplant"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"1841","DOI":"10.1002\/jbmr.2859","article-title":"A young woman with recurrent gestational hypercalcemia and acute pancreatitis caused by CYP24A1 deficiency","volume":"31","author":"17 Woods","year":"2016","unstructured":"17 Woods GN, Saitman A, Gao H, et al. A young woman with recurrent gestational hypercalcemia and acute pancreatitis caused by CYP24A1 deficiency. J Bone Miner Res. 2016; 31: 1841-1844.","journal-title":"J Bone Miner Res"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1016\/j.ando.2016.03.002","article-title":"Hyperparathyroidism complicating CYP 24A1 mutations","volume":"77","author":"18 Loyer","year":"2016","unstructured":"18 Loyer C, Leroy C, Molin A, et al. Hyperparathyroidism complicating CYP 24A1 mutations. Ann Endocrinol (Paris) 2016; 77: 615-619.","journal-title":"Ann Endocrinol (Paris)"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1007\/s00223-020-00738-8","article-title":"Therapy-resistant hypercalcemia in a patient with inactivating CYP24A1 mutation and recurrent nephrolithiasis: beware of concomitant hyperparathyroidism","volume":"107","author":"19 David","year":"2020","unstructured":"19 David K, Khalil R, Hannon H, et al. Therapy-resistant hypercalcemia in a patient with inactivating CYP24A1 mutation and recurrent nephrolithiasis: beware of concomitant hyperparathyroidism. 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