Pediatric Nephrology

, Volume 12, Issue 4, pp 315–327

Bartter and related syndromes: the puzzle is almost solved

  • Juan Rodríguez-Soriano
Invited review

DOI: 10.1007/s004670050461

Cite this article as:
Rodríguez-Soriano, J. Pediatr Nephrol (1998) 12: 315. doi:10.1007/s004670050461


It is now evident that the term Bartter syndrome does not represent a unique entity but encompasses a variety of disorders of renal electrolyte transport. Application of molecular biology techniques has permitted a better understanding of these “Bartter-like syndromes,” which at present can be divided into three different genetic and clinical entities. Neonatal Bartter syndrome is observed in newborn infants and characterized by polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and early-onset nephrocalcinosis. Two molecular defects have been identified: either at the gene encoding the renal bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) or the gene encoding an ATP-sensitive inwardly rectifying K channel (ROMK). “Classic” Bartter syndrome is mostly observed during infancy and childhood and is characterized clinically by polyuria and growth retardation. Nephrocalcinosis is not present. Very recently, either deletions or mutations at the gene encoding a renal chloride channel (ClC-Kb) have been identified. Gitelman syndrome is observed in older children and adults presenting with intermittent episodes of muscle weakness and tetany, hypokalemia, and hypomagnesemia. Mutations at the gene encoding the thiazide-sensitive Na-Cl cotransporter have been identified in the majority of patients studied. Obviously the validity of this classification must be confirmed in the near future when all mutations have been described and genotypic-phenotypic correlations are better defined.

Key words: Bartter syndromeGitelman syndromeHyperprostaglandin E2 syndromeROMKChloride channelSodium chloride cotransporters

Copyright information

© IPNA - International Pediatric Nephrology Association New York, USA 1998

Authors and Affiliations

  • Juan Rodríguez-Soriano
    • 1
  1. 1.Division of Pediatric Nephrology, Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, SpainES