Bartter Syndrome and Gitelman Syndrome.

Rosanna Fulchiero, Patricia Seo-Mayer

Journal: Pediatric clinics of North America 2019;66(1):121-134

PMID: 30454738

Full Text on Elsevier Science View on PubMed

Abstract

Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Bartter variants may be associated with polyuria and weakness. Gitelman syndrome is often subtle, and typically diagnosed later life with incidental hypokalemia and hypomagnesemia. Treatment may involve fluid and electrolyte replenishment, prostaglandin inhibition, and renin-angiotensin-aldosterone system axis disruption. Investigators have identified causative mutations but genotypic-phenotypic correlations are still being characterized. Collaborative registries will allow improved classification schema and development of effective treatments.

Address: Department of Pediatrics, Inova Children's Hospital, 3300 Gallows Road, Falls Church, VA 22042, USA.; Department of Pediatrics, Inova Children's Hospital, 3300 Gallows Road, Falls Church, VA 22042, USA; Division of Nephrology and Hypertension, Pediatric Specialists of Virginia, 3023 Hamaker Court, Suite 600, Fairfax, VA 22031, USA; Virginia Commonwealth School of Medicine, Richmond, VA, USA. Electronic address: [email protected].

DOI: 10.1016/j.pcl.2018.08.010

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MeSH Terms: Bartter Syndrome, Child, Diagnosis, Differential, Gitelman Syndrome, Humans