{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T02:28:33Z","timestamp":1771468113751,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,2,11]],"date-time":"2016-02-11T00:00:00Z","timestamp":1455148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabet. Med."],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Wolcott\u2010Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>A 9\u2010year\u2010old girl with diabetes and growth failure from 2\u00a0months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the<jats:styled-content style=\"fixed-case\">EIF<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">AK<\/jats:styled-content>3 gene confirmed the clinical diagnosis of Wolcott\u2010Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9\u20136.3\u00a0meq\/l) and low serum sodium levels (range 128\u2013130\u00a0meq\/l) 2\u00a0weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31\u00a0pg\/ml) and cortisol (18.7\u00a0\u03bcg\/dl) levels. Estimated<jats:styled-content style=\"fixed-case\">GFR<\/jats:styled-content>\u2010Schwartz (36.9\u00a0ml\/min\/1.73\u00a0m<jats:sup>2<\/jats:sup>) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: &gt; 4.1). The plasma aldosterone (upright: 241.3 pmol\/l) was within normal ranges, and plasma renin [39\u00a0pg\/ml (range 5.41\u201334.53\u00a0pg\/ml)] was slightly elevated. The patient was diagnosed as having relative hypoaldosteronism and was started on a sodium\u2010rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first case report of Wolcott\u2010Rallison syndrome complicated with relative hypoaldosteronism. Further research is needed to probe the causal inference of relative hypoaldosteronism with chronic renal failure in patients with Wolcott\u2010Rallison syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dme.12968","type":"journal-article","created":{"date-parts":[[2015,10,3]],"date-time":"2015-10-03T14:54:45Z","timestamp":1443884085000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Relative hypoaldosteronism in a patient with Wolcott\u2010Rallison syndrome"],"prefix":"10.1111","volume":"33","author":[{"given":"A.","family":"U\u00e7ar","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes \u015ei\u015fli Etfal Training and Research Hospital Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Aydemir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Hepatology and Nutrition Children's State Hospital of Sanliurfa Sanliurfa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Do\u011fan","sequence":"additional","affiliation":[{"name":"Intensive Care Unit Children's State Hospital of Sanliurfa Sanliurfa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Tun\u00e7ez","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's State Hospital of Sanliurfa Sanliurfa 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