Deletion of exons 2–4 in the BSND gene causes severe antenatal Bartter syndrome

• Published in: Pediatric nephrology (Berlin, West) Vol. 24; no. 4; pp. 841 - 844
• Main Authors: Bircan, Zelal, Harputluoglu, Filiz, Jeck, Nikola
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2009; Springer; Springer Nature B.V
• Subjects: Bartter Syndrome - genetics; Bartter Syndrome - pathology; Bartter Syndrome - physiopathology; Base Sequence; Brief Report; Chloride Channels - genetics; Exons; Genetic Predisposition to Disease; Glomerular Filtration Rate; Humans; Hypercalciuria - genetics; Hypercalciuria - pathology; Hypercalciuria - physiopathology; Infant; Male; Medicine & Public Health; Nephrology; Pediatrics; Sequence Deletion; Urology; Water-Electrolyte Imbalance - genetics; Water-Electrolyte Imbalance - pathology; Water-Electrolyte Imbalance - physiopathology; BSND; Deletion; Chronic renal failure; Hypercalciuria; Fluid and electrolyte management
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-008-1008-6

BSND gene mutations usually cause severe forms of antenatal Bartter syndrome and sensorineural deafness (SND). Chronic renal failure and transient hypercalciuria are reported as controversial symptoms of this syndrome. All twelve reported BSND mutations cause SND, whereas only two of the mutations give rise to normal glomerular filtration rate (GFR) and two other mutations cause hypercalciuria. The case we report here, where the patient presented with severe clinical symptoms and deletion on exons 2–4 of the BSND gene, has not been reported previously. Decreased GFR, along with hypercalciuria and difficulties in managing fluid and electrolyte requirements, are the reasons why this patient was brought to attention.