Abstract: PO2012
Aldosterone Producing Adenoma in an Adolescent Black Female
Session Information
- Pediatric Nephrology: Genetics, Kidney Stones, Quality Improvement, and Case Reports
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
Category: Pediatric Nephrology
- 1700 Pediatric Nephrology
Authors
- Searcy, Kristie R., LSU Health Shreveport, Shreveport, Louisiana, United States
- Gomez-Sanchez, Celso E., The University of Mississippi Medical Center, Jackson, Mississippi, United States
- Ranganath, Rohit, LSU Health Shreveport, Shreveport, Louisiana, United States
- Baliga, Radhakrishna, LSU Health Shreveport, Shreveport, Louisiana, United States
Introduction
Aldosterone-producing adenoma (APA) is a rare clinical entity in the pediatric population resulting in severe hypertension and/or hypokalemia. Limited number of cases have been reported with somatic KCNJ5 mutation being described in only one case. We have shown that in APAs somatic CACNA1D mutations are more prevalent in the male black patients unlike KCNJ5 which is considered the most frequently mutated gene in black females.
Case Description
A 16-year-old black female was noted to be hypertensive while being evaluated for depression. She was referred to us a year later for recurrent headaches, chronic drug resistant hypertension and persistent hypokalemia. Family history was positive for a maternal uncle with hypertension. On examination, her wt was 98 kg [>99%], ht 178 cms [94%], heart rate 88 per minute and blood pressure 155/94 mmHg [>95%]. Pertinent labs: serum sodium 142, potassium 2.8, chloride 106, and CO2 content 26 mEq/L. Serum creatinine was 0.80, and BUN 10 mg/dL. Plasma aldosterone concentration (PAC) was 27.2 ng/dL and plasma renin activity (PRA) <0.6 ng/mL/h with PAC/PRA ratio of 45 [significant > 20]. Cortisol level was 8.7 [N 1.7-14.1] µg/dl. Timed urine aldosterone for estimated urine creatinine of 1980 mg was 20 µg/d [N <15.6]. Cardiac echocardiogram showed compaction cardiomyopathy. CT abdomen indicated a right adrenal nodule suggesting an adenoma. Robotic right adrenalectomy was performed and pathology was consistent with APA. Blood and right adrenal tissue was sent for germline and somatic mutations. Post-operatively PAC was <3.0 ng/dL. Her headaches resolved, her blood pressure significantly improved to 124/69 mmHg [<90%] with normalization of her serum potassium. One month after right adrenalectomy her blood pressure continues to be well controlled on two antihypertensive medications and her serum potassium levels remain normal.
Discussion
Unilateral APA should be considered in any child who presents with drug resistant hypertension and/or hypokalemia as early diagnosis and prompt adrenalectomy would prevent significant cardiovascular sequelae. The identification of somatic and germline mutations will provide further insight into the mechanisms of APA and assist in tailoring appropriate therapy especially in blacks who have high cardiovascular disease morbidity and mortality.