Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the () on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the , .
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755923 | PMC |
| http://dx.doi.org/10.4103/ijn.IJN_175_18 | DOI Listing |
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