Resistant Hypertension in Two Siblings: A Rare Case of Apparent Mineralocorticoid Excess Syndrome

Dr. Asrar Alqaedi, Dr. Abeer Almalki, Dr. Rafeef A. Bahafzalla, Dr. Doaa Alhomyani

Abstract: Introduction: Apparent mineralocorticoid excess (AME) is a rare syndrome with an autosomal recessive inheritance characterized by monogenic hypertension, nephrocalcinosis, low birth weight, failure to thrive, and short stature. AME is caused by mutations in the HSD11B2 gene, an enzyme responsible for the conversion of cortisol to cortisone. Based on 100 AME cases reported to date, 20 different mutations in the HSD11?2 gene have been identified. This case study aims to describe the clinical, genetic, and therapeutic aspects of two pediatric siblings diagnosed with AME syndrome. Discussion: This study adds to the limited clinical literature on pediatric AME and underscores the value of genetic testing in early diagnosis and treatment planning. AME is characterized by low birth weight, failure to thrive, and renal involvement, including renal failure and early childhood hypertension with severe target organ damage. Long-standing hypokalemia can lead to nephrocalcinosis along with renal cysts, which can be prevented with early diagnosis and management. A limited-salt diet is recommended as a treatment for patients. In addition, mineralocorticoid receptor antagonists, along with potassium-sparing diuretics, are strongly recommended. Glucocorticoids can suppress endogenous adrenocorticotropic hormones. Conclusion: We here report cases of AME in two siblings who presented with hypertension. This case report emphasizes the clinical relevance of early genetic screening in pediatric hypertension cases with family history. The confirmation of AME through whole exome sequencing in both siblings guided tailored treatment approaches, leading to improved patient outcomes. Continued follow-up is essential to mitigate long-term risks.

Keywords: Apparent mineralocorticoid excess syndrome, resistant hypertension, nephrocalcinosis

How to Cite?: Dr. Asrar Alqaedi, Dr. Abeer Almalki, Dr. Rafeef A. Bahafzalla, Dr. Doaa Alhomyani, "Resistant Hypertension in Two Siblings: A Rare Case of Apparent Mineralocorticoid Excess Syndrome", Volume 14 Issue 5, May 2025, International Journal of Science and Research (IJSR), Pages: 1531-1535, https://www.ijsr.net/getabstract.php?paperid=SR25521021000, DOI: https://dx.doi.org/10.21275/SR25521021000