Bartter Syndrome and Gitelman Syndrome.

Bartter Syndrome / diagnosis Child Diagnosis, Differential Gitelman Syndrome / diagnosis Humans
Bartter syndrome (BS) Failure to thrive Gitelman syndrome (GS) Hypokalemic hypochloremic metabolic alkalosis Polyuria Salt-losing tubulopathy

Journal

Pediatric clinics of North America
ISSN: 1557-8240
Titre abrégé: Pediatr Clin North Am
Pays: United States
ID NLM: 0401126

Informations de publication

Date de publication:
02 2019
Historique:
entrez: 21 11 2018
pubmed: 21 11 2018
medline: 30 1 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.pcl.2018.08.010 PMID: 30454738
pubmed: 30454738
pii: S0031-3955(18)30134-2
doi: 10.1016/j.pcl.2018.08.010
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

121-134

Informations de copyright

Copyright © 2018 Elsevier Inc. All rights reserved.

Auteurs

Rosanna Fulchiero (R)

Department of Pediatrics, Inova Children's Hospital, 3300 Gallows Road, Falls Church, VA 22042, USA.

Patricia Seo-Mayer (P)

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: Pseo-mayer@psvcare.org.

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Classifications MeSH

questionsmedicales.fr › Maladies endocriniennes › Maladies des surrénales › Hypercorticisme › Hyperaldostéronisme › Syndrome de Bartter › Bartter Syndrome and Gitelman Syndrome.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Bartter Syndrome and Gitelman Syndrome.
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Bartter Syndrome and Gitelman Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Gitelman › Bartter Syndrome and Gitelman Syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Bartter Syndrome and Gitelman Syndrome.