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Published on: February 29, 2020
Antenatal Bartter's syndrome with sensorineural deafness
R P Bhamkar1, A Gajendragadkar
1Department of Pediatrics, Gurunanak Hospital, Bandra (E), Mumbai, India.
Indian Journal of Nephrology
|March 31, 2010
Summary
This study details a rare antenatal Bartter's syndrome case in an Indian neonate, presenting with sensorineural deafness. This highlights a unique presentation of this inherited salt-losing condition.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Bartter's syndrome is an inherited salt-losing tubulopathy characterized by metabolic alkalosis, hyperreninemia, and hyperaldosteronism.
- This condition affects kidney function, leading to electrolyte imbalances.
Observation:
- A case report of a neonate from an Indian community is presented.
- The neonate exhibited bilateral, sensorineural deafness.
Findings:
- This presentation represents a variant of antenatal Bartter's syndrome.
- This is the first reported case of this specific variant in this population.
Implications:
- This case expands the known clinical spectrum of Bartter's syndrome.
- Highlights the importance of considering genetic kidney disorders in neonates with congenital deafness.
