Review
HIV medicine
The pathophysiological and molecular basis of Bartter's
and Gitelman's syndromes
Sunil Bhandari
School of
Biomedical Sciences, Department of Physiology, University of Leeds,
Leeds, UK
Correspondence to: Dr Sunil Bhandari, Senior Registrar, Department of Renal Medicine, Royal Prince Alfred Hospital, Missenden Road, Camperdown, Sydney, NSW 2050 Australia
Accepted 31 March 1999
Molecular defects affecting the transport of sodium, potassium
and chloride in the nephron through the ROMK K+ channel,
Na+/K+/2Cl- cotransporter, the
Na+/Cl- cotransporter and chloride channel have
been identified in patients with Bartter's and Gitelman's syndromes.
Defects of the angiotensin II type I receptor and CFTR have also being
described. These defects are simple (ie, most are single amino acid
substitutions) but affect key elements in tubular transport. The
simplicity of the genetic defects may explain why the inheritance of
these conditions remains unclear in most kindreds (ie, not just
recessive or dominant) and emphasises the crucial importance of the
conformational structure of these channels. Application of this
molecular information will allow the early genetic identification of
patients with these syndromes and enable us to differentiate between
the various disorders at a functional level. It may also identify a
sub-group in which the heterozygous form may make patients potentially
exquisitely sensitive to diuretics.
Keywords: Bartter's syndrome; Gitelman's syndrome; hypokalaemic alkaloses
© 1999 by The Fellowship of Postgraduate Medicine
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