Background: Pseudohypoaldosteronism (PHA) is a disorder caused by aldosterone resistance with impaired sodium reabsorption and potassium excretion from the body. PHA is subdivided into primary (genetic) and secondary (transient) forms. Primary PHA is caused by mutations in genes encoding epithelial sodium channel or mineralocorticoid receptors. The secondary PHA may occur due to urinary tract malformations, urinary tract infections (UTI), drugs, etc. We present here two cases with salt wasting crisis due to primary PHA in one case and due to secondary PHA associated with urosepsis in the other.
Case 1: A 7-day-old female child was brought to the hospital with poor feeding and hypotonia. She was born at term after an uneventful pregnancy with a birth weight of 3720 g. She was the fifth child of first degree consanguineous parents with a brother who was died of adrenal disease at 6 months of age. On admission, she was pale, lethargic, and hypotonic. Her weight was 3200 g with decreased skin tonus and depressed eye-balls. External genitalia was appropriate with female, with no palpable or pigmentation. On laboratuary at admission, Na: 129 mEq/l, K: 11 mEq/l, BUN: 71 mg/dl, Cr: 1.14 mg/dl, pH: 7.1, HCO3: 16, urine Na: 116, and K: 6.1. Urgent treatment for adrenal crisis and hyperkalemia (Ca gluconate i.v. bolus; NaHCO3 infusion; glucose/insülin infusion; salbutamol and kayexelate) had began. Resistance of hyperkalemia was remarkable despite aggresive treatment. Results on admission: cortisol: 46 μg/dl, 17 OHP: 8 ng/ml, 11 DOC: 9.2 ng/ml, aldosteron: 1800 (n: 5120) pg/ml, and renin 45 ng/ml. As the clinical course and investigations were suitable with PHA, hydrocortisone was stopped. Now she is 3 months of age, weighted 5.6 kg, she is taking oral salt, kayexalate and anti-asidosis. Genetic analysis have been sent.
Case 2: 50 days of age girl with urosepsis, had resistant hyponatremia. She was the first child of a first degree consanguineus parents. On laboratuary at admission, Na: 125 mEq/l, K: 5.1 mEq/l, cortisol: >62 μg/dl, renin 500 ng/ml, aldosterone: >150 pg/ml, urine Na: 17, and K: 44.6. She was started oral salt and minerolocortocoid after 2 months follow-up, the therapy could be stopped.
Discussion: Although congenital adrenal hyperplasia is a frequent and important reason for salt wasting in early infancy; none etiology PHA should be kept in mind especially in cases with poor response to cortisol treatment and resistant hypercalemia.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology