Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
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.
Bircan
Zelal
Z
Department of Pediatric Nephrology, Kocaeli University Hospital, 41380 Umuttepe, Kocaeli, Turkey. zbircan@superonline.com
Harputluoglu
Filiz
F
Jeck
Nikola
N
D001477:Bartter Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D005091:Exons; D020022:Genetic Predisposition to Disease; D005919:Glomerular Filtration Rate; D006801:Humans; D053565:Hypercalciuria / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D007223:Infant; D008297:Male; D017384:Sequence Deletion; D014883:Water-Electrolyte Imbalance / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
C440005:BSND protein, human; D018118:Chloride Channels