Referenced in: none

Automatically associated channels: ClC4 , ClCK2

Title: Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Authors: Rik Westland, Wilfried W Hack, Henricus J R van der Horst, Lukas B Uittenbogaard, Johanna M van Hagen, Paul van der Valk, Erik J Kamsteeg, Lambert P van den Heuvel, Joanna A E van Wijk

Journal, date & volume: Clin. Nephrol., 2012 Dec , 78, 492-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23164417

Abstract
Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.