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Tomomichi Ito

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Articles

Two Cases of Prenatally Suspected Fetal Bartter Syndrome With a Novel Genetic Variant Indicated by Polyhydramnios and Amniotic Fluid Biochemistry

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By Norikazu Watanabe, Tomomichi Ito, Gynecology Yamagata
| Wiley Online Library Verified
Bartter syndrome, an autosomal recessive congenital disorder of renal tubular function, is characterized by hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism [1], and can be classified into five sub-types based on the causal gene. Type I Bartter syndrome (MIM #601678) is caused by pathogenic variants of the SLC12A1 gene, which encodes the furosemide-sensitive Na+-K+-2Cl− cotransporter expressed in the thick ascending limb of the loop of Henle [1].
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