Article
A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.
Birth defects research - 15 Oct 2023
Yaprak Deniz, Kara Hüdaverdi, Calisici Erhan, Karagöl Belma Saygılı, Altan Mustafa
Abstract excerpt
BACKGROUND: Bartter 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....
Topics
- Humans
- Bartter Syndrome
- Infant, Newborn
- Male
- Chloride Channels
- Female
- Homozygote
- Mutation
- Pregnancy
- Adult