{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T15:10:55Z","timestamp":1790176255511,"version":"4.1.0"},"reference-count":8,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":84,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Bardet\u2013Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by marked clinical and genetic heterogeneity, classically presenting with retinal dystrophy, obesity, polydactyly, renal dysfunction, and hypogonadism. Although arterial hypertension is frequently observed in affected individuals, it is not currently included in diagnostic criteria and remains insufficiently studied. We report the case of a 35-year-old man with clinically diagnosed BBS who developed severe, treatment-resistant hypertension and hypokalaemia. A comprehensive endocrine evaluation revealed primary hyperaldosteronism, confirmed by an elevated aldosterone-to-renin ratio, saline suppression testing, and imaging evidence of a unilateral adrenal adenoma. Laparoscopic adrenalectomy resulted in normalization of potassium levels and a significant improvement in blood pressure control. This case illustrates the complex interplay between BBS-related renal, metabolic, and neuroendocrine dysfunction and secondary endocrine causes of hypertension. Existing evidence suggests that BBSome dysfunction may be associated with alterations in metabolic and cardiovascular regulation; however, its relationship with aldosterone-producing adenomas remains uncertain. The coexistence of BBS and primary aldosteronism may be coincidental; however, shared molecular pathways cannot be excluded. To the best of our knowledge, this is the first reported case of primary aldosteronism caused by an aldosterone-producing adrenal adenoma in a patient with BBS. This report highlights the importance of a thorough evaluation for secondary hypertension in BBS patients and underscores the need for further research into the pathophysiological links between ciliopathies and endocrine hypertension.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-25-0193","type":"journal-article","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:51:28Z","timestamp":1790175088000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Primary hyperaldosteronism in patient with Bardet\u2013Biedl syndrome: unmasking secondary hypertension"],"prefix":"10.1530","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8686-2642","authenticated-orcid":true,"given":"E","family":"Marinova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Stoyanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsv","family":"Todorova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Dimova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"2026092310503359900_bib1","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.ajhg.2021.02.008","article-title":"Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis","volume":"108","author":"Drivas","year":"2021","journal-title":"Am J Hum Genet"},{"key":"2026092310503359900_bib2","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","article-title":"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis","volume":"129","author":"Nachury","year":"2007","journal-title":"Cell"},{"key":"2026092310503359900_bib3","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1210\/jc.2017-01459","article-title":"The endocrine and metabolic characteristics of a large Bardet\u2013Biedl syndrome clinic population","volume":"103","author":"Mujahid","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"key":"2026092310503359900_bib4","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1038\/s41431-024-01634-7","article-title":"Bardet\u2013Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations","volume":"32","author":"Dollfus","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"2026092310503359900_bib5","doi-asserted-by":"crossref","first-page":"57","DOI":"10.2174\/1573402111666150630140615","article-title":"Vascular endothelial primary cilia: mechanosensation and hypertension","volume":"12","author":"Mohieldin","year":"2016","journal-title":"Curr Hypertens Rev"},{"key":"2026092310503359900_bib6","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1053\/j.ajkd.2021.08.008","article-title":"Obesity and incident kidney disease: busting the myth of metabolically healthy obesity","volume":"79","author":"Anand","year":"2022","journal-title":"Am J Kidney Dis"},{"key":"2026092310503359900_bib7","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and genetic epidemiology of Bardet\u2013Biedl syndrome in Newfoundland: a 22-year prospective, populationbased, cohort study","volume":"132A","author":"Moore","year":"2005","journal-title":"Am J Med Genet"},{"key":"2026092310503359900_bib8","doi-asserted-by":"crossref","DOI":"10.1172\/JCI146287","article-title":"Bardet\u2013Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC derived neurons","volume":"131","author":"Wang","year":"2021","journal-title":"J Clin Investig"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0193\/525673\/edm-25-0193.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0193\/525673\/edm-25-0193.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:51:29Z","timestamp":1790175089000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article\/2026\/3\/EDM250193\/78260\/Primary-hyperaldosteronism-in-patient-with-Bardet"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,7,1]]}},"URL":"https:\/\/doi.org\/10.1530\/edm-25-0193","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]},"article-number":"EDM250193"}}