PS-R07-10: A MOTHER AND HER DAUGHTER CASES OF PRIMARY ALDOSTERONISM

Abstract

The majority of cases of primary aldosteronism (PA) occur sporadically. Familial forms of PA are rare with four subtypes defined. We reported a case of familial cluster of primary aldosteronism in two members, daughter and her mother. Case presentation Case 1: Daughter A 20-year-old woman with a history of hypertension and proteinuria for three years without treatment, was admitted for the treatment of accelerated hypertension of 182/121 mmHg and end stage kidney disease. Blood examination revealed low plasma renin activity (PRA) of 0.7 ng/ml/h, and high plasma aldosterone concentration (PAC) of 349 pg/mL, high aldosterone/renin ratio (ARR) of 498.6, and serum potassium (sK) of 4.9 mEq/L. (Plasma ACTH 12.9 pg /mL, plasma cortisol 7.4 mcg/dL) These findings suggested PA. Abdominal CT scan showed no adrenal mass. After control of accelerated hypertension with nifedipine GITS and alpha adrenoceptor blocker, confirmatory tests for PA, saline infusion test (SIT) were carried out and was positive test (PAC 240 min after infusion 264pg/mL). Adrenal venous sampling revealed bilateral hyper-aldosterone secretion. She was given diagnosis of bilateral adrenal hyperaldosteronism. Her blood pressure was decreased to 118/77 along with administration of spironolactone 25 mg/day. Her parents have hypertension. We investigate the cause of hypertension in her parents. Blood test of her father revealed PRA 3.4 ng/m/h, PAC 18.3 pg/ml, and sK 4.7 mEq/L. Case 2: Mother A 45-year-old women with hypertension treated with amlodipine 5 mg was referred to our hospital to examine the renal function after renal donation to her daughter. Blood test revealed mild renal dysfunction (eGFR 72,2), normal sK(4.0 mEq/L), low PRA (0.9 ng/ml/h), high PAC (118 pg/mL) for high salt intake (11.6 g/day as high as salt loading test). Abdominal CT scan showed no adrenal mass. SIT was positive (PAC 240 min after infusion 60.0 pg/mL). She was given diagnosis of PA. Discussion: Potential factors leading to BHA include rare disease-predisposing germline variants, circulating angiotensin II type 1 receptor autoantibodies, and paracrine activation of aldosterone production by adrenal mast cells have been reported. Primary hyperaldosteronism in 2 family members, a mother and daughter, suggests familial hyperaldosteronism which caused by germline mutation. We now investigate germline variants for BHA.