{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T14:23:41Z","timestamp":1789395821588,"version":"build-2803163510"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Objectives:<\/jats:bold> Gordon syndrome (GS), also known as pseudohypoaldosteronism type II, is a rare tubular disease characterized by hypertension, hyperkalemia, and metabolic acidosis. Its causative genes are <jats:italic>CUL3<\/jats:italic>, <jats:italic>KLHL3<\/jats:italic>, <jats:italic>WNK1<\/jats:italic>, and <jats:italic>WNK4<\/jats:italic>, and they are associated with varying severity of the disease. Herein, we report the first case of GS caused by a <jats:italic>CUL3<\/jats:italic> mutation in a patient with short stature in Korea.<jats:bold>Case presentation:<\/jats:bold> A 7-year-old boy had hypertension, metabolic acidosis, and persistent hyperkalemia, which were initially detected during the evaluation of short stature. He was born small for gestational age at late preterm gestation. Laboratory test findings showed hyperkalemia with low trans-tubular potassium gradient, hyperchloremic metabolic acidosis with a normal anion gap, and low plasma renin levels. Genetic analysis revealed a heterozygous <jats:italic>de novo<\/jats:italic> mutation in the <jats:italic>CUL3<\/jats:italic> gene (c.1377+1G\u00a0&gt;\u00a0C in intron 9). Thus, a diagnosis of GS was made. The results of the endocrine function test (including growth hormone stimulation tests) were normal. After thiazide treatment, the patient\u2019s electrolyte levels were normalized. However, he presented with persistent hypertension and short stature.<jats:bold>Conclusions:<\/jats:bold> GS should be considered in children with short stature, hypertension, and hyperkalemia, and early treatment may reduce complications.<\/jats:p>","DOI":"10.1515\/jpem-2021-0361","type":"journal-article","created":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T20:18:13Z","timestamp":1630786693000},"page":"253-257","source":"Crossref","is-referenced-by-count":7,"title":["Gordon syndrome caused by a <i>CUL3<\/i> mutation in a patient with short stature in Korea: a case report"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6214-4945","authenticated-orcid":false,"given":"Ji Hong","family":"Park","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital , Seoul , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Hyun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Seoul National University Bundang Hospital , Seongnam , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yo Han","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital , Seoul , Republic of Korea"},{"name":"Department of Pediatrics , Seoul National University College of Medicine , Seoul , Republic of Korea"},{"name":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine , Seoul , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee Gyung","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital , Seoul , Republic of Korea"},{"name":"Department of Pediatrics , Seoul National University College of Medicine , Seoul , Republic of Korea"},{"name":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine , Seoul , Republic of Korea"},{"name":"Wide River Institute of Immunology, Seoul National University , Hongcheon , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Il Soo","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children\u2019s Hospital , Seoul , Republic of Korea"},{"name":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine , Seoul , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae Il","family":"Cheong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hallym University Sacred Heart Hospital , Anyang , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,9,6]]},"reference":[{"key":"2022020803263084561_j_jpem-2021-0361_ref_001","doi-asserted-by":"crossref","unstructured":"O\u2019Shaughnessy, KM. 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