title: Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.
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.
authors.affiliation: Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands. r.westland@vumc.nl
authors.forename: Rik
authors.initials: R
authors.lastname: Westland
authors.forename: Wilfried W
authors.initials: WW
authors.lastname: Hack
authors.forename: Henricus J R
authors.initials: HJ
authors.lastname: van der Horst
authors.forename: Lukas B
authors.initials: LB
authors.lastname: Uittenbogaard
authors.forename: Johanna M
authors.initials: JM
authors.lastname: van Hagen
authors.forename: Paul
authors.initials: P
authors.lastname: van der Valk
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Kamsteeg
authors.forename: Lambert P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: Joanna A E
authors.initials: JA
authors.lastname: van Wijk
mesh_terms: D000328:Adult; D001477:Bartter Syndrome / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D018118:Chloride Channels / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014551:Urinary Tract / Q000002:abnormalities*
chemical_list: C412733:CLCNKB protein, human; D018118:Chloride Channels