Gitelman syndrome: From pathophysiology to clinical practice / 国际药学研究杂志

ABSTRACT

Normal tubular transport function is important for maintaining the volume of fluid and electrolyte in the body. Advances in molecular biology have revealed the genetic regulation and pathophysiological mechanisms of inherited tubular disorders. This progress not only sheds some light on the clinical practice, but also leads to better understanding of the normal tubular structures and function. As the most common inherited tubular disorders, Gitelman syndrome (GS) is an autosomal recessive inherited disease, mainly caused by loss-of-function mutations in the SLC12A3 gene encoding the sodium-chloride co-transporter (NCC) in the distal convoluted tubule. This review summarizes some of the recent progress in genetic diagnosis, in vivo and in vitro functional studies and management of GS.