Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder

American Journal of Medical Genetics
D LandauR Carmi

Abstract

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS.

References

Oct 1, 1975·American Journal of Diseases of Children·T JamesD Preston
Nov 17, 1975·JAMA : the Journal of the American Medical Association·N A Kurtzman, L F Gutierrez
Apr 1, 1992·The Journal of Pediatrics·A LeonhardtH W Seyberth
Feb 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S L HostikkaK Tryggvason
Dec 1, 1990·The Journal of Laryngology and Otology·O P TunglandS C Bellman
Jan 1, 1989·American Journal of Nephrology·L BenturM Berant
Jun 1, 1989·AJR. American Journal of Roentgenology·J MatsumotoT R Welch
Sep 1, 1989·The Journal of Pediatrics·C Restrepo de RovettoW Bergstrom
Jan 1, 1985·Nephron·Y KobayashiK Mori
Jan 1, 1981·Nephron·E Bourke, V Delaney
Sep 1, 1982·Archives of Disease in Childhood·M Bommen, C G Brook
Mar 1, 1981·The American Journal of Medicine·M GublerR Habib
Mar 1, 1980·Archives of Disease in Childhood·D B DungerA R Cain
Jun 15, 1993·American Journal of Medical Genetics·C P WhiteJ E Carter
Apr 1, 1993·Archives of Otolaryngology--head & Neck Surgery·M T BrownA N Becker

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Citations

Mar 6, 2002·Indian Journal of Pediatrics·Mamta N MuranjanRamesh C Parmar
Dec 6, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Sachiko KitanakaTakashi Igarashi
Mar 31, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Víctor García-NietoFélix Claverie-Martín
Apr 4, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Marco ZaffanelloFrancesco Emma
Jun 15, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Willem Proesmans
Jun 15, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gal FinerDaniel Landau
Oct 10, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Zelal BircanNikola Jeck
Dec 21, 2007·Nature Clinical Practice. Nephrology·Bernhard K KrämerSiegfried Waldegger
Oct 10, 1998·Kidney International·I Kurtz
Jun 26, 2002·Kidney International·Stephan C ReinalterMartin Kömhoff
Mar 27, 2004·The New England Journal of Medicine·Karl P SchlingmannSiegfried Waldegger
Dec 20, 2008·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Karine BrochardRosa Vargas-Poussou
Nov 17, 2009·Pediatric Research·Arnaud GarnierFrançoise Muller
Aug 12, 2006·Endocrine Journal·Toshihiro TajimaKenji Fujieda
Sep 9, 2008·Journal of the American Society of Nephrology : JASN·Audrey G H JanssenChristoph Fahlke
Jan 1, 2009·Indian Journal of Nephrology·R P Bhamkar, A Gajendragadkar
Apr 21, 2012·International Journal of Pediatrics·Y Ramesh BhatK Sreelakshmi
Jan 10, 2002·The American Journal of the Medical Sciences·A J Shaer
Aug 16, 2002·The Journal of Physiology·Stefan Heller
Sep 12, 2012·The Laryngoscope·Georgios KontorinisBurkard Schwab
Mar 15, 2002·The American Journal of Medicine·Melanie PetersHannsjörg W Seyberth
Sep 4, 1998·The American Journal of Medicine·L M Guay-Woodford
May 5, 2011·Journal of Biomedicine & Biotechnology·Hina IqbalAsif Mir
Sep 29, 2009·Clinical Science·Henrik DimkeRené J Bindels
Aug 4, 2009·American Journal of Human Genetics·Saima RiazuddinChristoph Fahlke
Jun 24, 2016·Journal of the American Society of Nephrology : JASN·J Christopher HenningsDominique Eladari
Dec 6, 2001·Nature·M Hunter
May 31, 2018·Physiological Reviews·Thomas J Jentsch, Michael Pusch
Jul 31, 2004·Acta Physiologica Scandinavica·S C ReinalterH W Seyberth
Apr 13, 2019·Annals of Human Genetics·Daniel HalperinOhad S Birk
Jun 20, 2019·Physiological Reviews·Jenny van der WijstOlivier Devuyst
May 28, 2015·The Journal of Biological Chemistry·Kim Vanessa SteinkeMartin Fischer
Jun 13, 2015·The Journal of Biological Chemistry·Daniel WojciechowskiChristoph Fahlke
Jun 22, 2000·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·M VollmerN V Knoers
Apr 12, 2011·European Journal of Pediatrics·Pierre RobitailleYork Pei
Dec 31, 2002·Journal of the American Society of Nephrology : JASN·Martin Konrad, Stefanie Weber
Sep 27, 2000·Journal of the American Society of Nephrology : JASN·David E C Cole, Gary A Quamme
Mar 18, 2003·The Journal of Pediatrics·Gal FinerDaniel Landau

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