A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate
Deniz Yaprak,
Hüdaverdi Kara,
Erhan Calisici
et al.
Abstract:BackgroundBartter syndrome (BS) is a rare congenital salt‐losing renal tubular transport disorder, characterized by salt wasting, polyuria, biochemical abnormalities, and acid–base homeostasis imbalance. The syndrome has five different genetic forms, and novel mutations of CLCNKB gene lead to type 3 BS also known as classic BS. In this case, we report clinical and molecular findings from a newborn baby with BS.CaseA 10‐day‐old male infant born at 37 weeks of gestation by cesarean section following a pregnancy … Show more
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