Abstract

  Bartter’s Syndrome (BS) is a rare inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis and urinary wasting of sodium, potassium and chloride. It is caused by mutations in several genes encoding for ion transporters in the thick ascending limb of loop of Henle. Antenatal BS (type I) is caused by mutation in the SLC12A1 gene, encoding for sodium-potassium-2-chloride- cotransporter (NKCC2). This patient was born prematurely with low birth weight and mother underwent therapeutic amniocentesis after 24 weeks of pregnancy for severe polyhydramnios. Child was evaluated at 7 months of age for failure to thrive, developmental delay in the motor domain and polyuria from early infancy. Investigations favored the diagnosis of BS. Genetic study revealed presence of homozygous mutation (p.Cys475Arg variant) in exon 11 of the SLC12A1 gene on chromosome 15. This homozygous mutation, not reported in the literature so far may be a novel one in this family.

Keywords: Antenatal Bartter’s Syndrome; Hypokalemia; Mutation

References

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Citation

Citation: Nagamani Agarwal. “Antenatal Barter Syndrome - Novel Mutation in Gene SLC21A1". Acta Scientific Paediatrics 3.10 (2020): 17-20.

Copyright

Copyright: © 2020 Nagamani Agarwal. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.