Primary hyperaldosteronism in patient with Bardet-Biedl syndrome: unmasking secondary hypertension.

SUMMARY: Bardet-Biedl 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.