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


Bircan Z., Harputluoglu F., Jeck N.

PEDIATRIC NEPHROLOGY, cilt.24, ss.841-844, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 24 Konu: 4
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1007/s00467-008-1008-6
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Sayfa Sayıları: ss.841-844

Özet

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.