Abnormalities of nasal potential difference measurement in Liddle's syndrome

The Journal of Clinical Investigation
E BakerG MacGregor

Abstract

In Liddle's syndrome, a rare inherited form of hypertension, epithelial sodium channel mutations appear to cause high blood pressure by increasing sodium reabsorption through sodium channels in the renal distal tubule. This increase in channel activity has not been confirmed previously by in vivo measurement. We have made transnasal potential difference measurements (effective in detection of increased sodium channel activity in cystic fibrosis) in three brothers with genetically proven Liddle's syndrome, their unaffected sister, and 40 normotensive controls. Maximum potential difference after 2 wk off treatment in the affected brothers was -30.4+/-1.2 mV (values mean+/-SD, lumen-negative with respect to submucosa) and was significantly more lumen-negative than that of the control group (-18.6+/-6.8 mV, P = 0.0228) or the unaffected sister (-18.25 mV, P < 0.01). The change in potential difference after topical application of 10(-)4 M amiloride was greater in the Liddle's patients, 14.0+/-2.1 mV, than in controls (7.9+/-3.9 mV, P = 0.0126) or the unaffected sister (5.5 mV, P < 0.05). This is the first in vivo demonstration of increased sodium channel activity in Liddle's syndrome. If these results are confirmed in other kindreds...Continue Reading

References

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Citations

Sep 12, 2000·Current Hypertension Reports·D G Warnock
Mar 16, 2000·British Journal of Clinical Pharmacology·E H Baker
Apr 12, 2000·Kidney International·O Bonny, E Hummler
May 30, 2008·Respiratory Research·Isabelle FajacThierry Bienvenu
Feb 26, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Maryam Khosravi, Stephen B Walsh
Jul 21, 2001·Hypertension·E H BakerG A MacGregor
Jun 14, 2005·European Journal of Clinical Investigation·Z FarfelM Wilschanski
Nov 9, 2010·The Journal of Clinical Hypertension·Mihály TapolyaiTibor Fülöp
Oct 11, 2015·The European Respiratory Journal·Jessica RademacherBurkhard Tümmler
Oct 3, 2001·Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics·R Pincák, M Pudlak
Apr 22, 2011·The Journal of Clinical Endocrinology and Metabolism·Peter KamenickyPhilippe Chanson
Feb 13, 2001·British Journal of Clinical Pharmacology·K M O'Shaughnessy
Nov 24, 1999·The American Journal of Physiology·L A TomlinsonJ V Weil
May 27, 2021·American Journal of Physiology. Lung Cellular and Molecular Physiology·Arun K RoojBakhrom K Berdiev

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