{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T16:36:06Z","timestamp":1721838966016},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,6,27]]},"abstract":"Abstract<\/jats:title>\n \n Background:<\/jats:title>\n Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy.<\/jats:p>\n <\/jats:sec>\n \n Case presentation:<\/jats:title>\n We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n This presentation highlights a previously unreported but significant clinical complication of this disorder and emphasizes the persistent risk of excessive salt loss via sweat and a need for certain precautions, such as increased salt intake and avoidance of prolonged and\/or strenuous exercise.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2017-0483","type":"journal-article","created":{"date-parts":[[2018,5,11]],"date-time":"2018-05-11T22:16:22Z","timestamp":1526076982000},"page":"697-699","source":"Crossref","is-referenced-by-count":3,"title":["Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency"],"prefix":"10.1515","volume":"31","author":[{"given":"Dekel","family":"Avital","sequence":"first","affiliation":[{"name":"Pediatric Division, Soroka Medical Center , Beer-Sheva , Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli","family":"Hershkovitz","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Soroka Medical University Center, P.O. Box 151 , Beer-Sheva 84101 , Israel , Phone: +(972-8) 640-3517, Fax: +972-732049362"},{"name":"Pediatric Division, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev , Beer-Sheva , Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neta","family":"Loewenthal","sequence":"additional","affiliation":[{"name":"Pediatric Division, Soroka Medical Center , Beer-Sheva , Israel"},{"name":"Pediatric Endocrinology and Metabolism Unit, Soroka Medical Center , Beer-Sheva , Israel"},{"name":"Faculty of Health Sciences, Ben-Gurion University of the Negev , Beer-Sheva , Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,5,11]]},"reference":[{"key":"2021021317373627541_j_jpem-2017-0483_ref_001_w2aab3b7c26b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, et al. Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of carbonic anhydrase 12. Hum Genet 2011;129:397\u2013405.","DOI":"10.1007\/s00439-010-0930-4"},{"key":"2021021317373627541_j_jpem-2017-0483_ref_002_w2aab3b7c26b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Huerta-Alard\u00edn AL, Varon J, Marik PE. Bench-to-bedside review: rhabdomyolysis \u2013 an overview for clinicians. Crit Care 2005;9:158\u201369.","DOI":"10.1186\/cc2978"},{"key":"2021021317373627541_j_jpem-2017-0483_ref_003_w2aab3b7c26b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, et al. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. 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Recurrent rhabdomyolysis secondary to hyponatremia in a patient with primary psychogenic polydipsia. Rev Bras Ter Intensiva 2015;27:77\u201381.","DOI":"10.5935\/0103-507X.20150013"},{"key":"2021021317373627541_j_jpem-2017-0483_ref_007_w2aab3b7c26b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Chl\u00edbkov\u00e1 D, Knechtle B, Rosemann T, Tom\u00e1\u0161kov\u00e1 I, Novotn\u00fd J, et al. Rhabdomyolysis and exercise-associated hyponatremia in ultra-bikers and ultra-runners. J Int Soc Sports Nutr 2015;25:12\u201329.","DOI":"10.1186\/s12970-015-0091-x"},{"key":"2021021317373627541_j_jpem-2017-0483_ref_008_w2aab3b7c26b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Lee M, Vecchio-Pag\u00e1n B, Sharma N, Waheed A, Li X, et al. Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. 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