Valeria Calcaterra1,2, Giulia Roberto3, Anna La Rocca3, Beatrice Andrenacci3, Federico Rossi3, Gian Vincenzo Zuccotti2,4, Valentina Fabiano2,4. 1. Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, Italy. 2. Department of Pediatrics, Children's Hospital "V. Buzzi", 20157 Milano, Italy. 3. Pediatric Unit, Fondazione IRCCS Policlinico S. Matteo and University of Pavia, 27100 Pavia, Italy. 4. Department of Biomedical and Clinical Science "L. Sacco", University of Milano, 20157 Milano, Italy.
Abstract
BACKGROUND: Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to T base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission. CONCLUSIONS: SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.
BACKGROUND: Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to T base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission. CONCLUSIONS: SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.
Authors: Annette Reissinger; Michael Ludwig; Boris Utsch; Astrid Prömse; Johannes Baulmann; Burkhard Weisser; Hans Vetter; Herbert J Kramer; Dirk Bokemeyer Journal: Kidney Blood Press Res Date: 2002 Impact factor: 2.687