Gitelman syndrome: pathophysiological and clinical aspects

QJM : Monthly Journal of the Association of Physicians
G GrazianiC Ponticelli

Abstract

Giltelman syndrome (GS) is a recessive salt-losing tubulopathy of children or young adults caused by a mutation of genes encoding the human sodium chloride cotransporters and magnesium channels in the thiazide-sensitive segments of the distal convoluted tubule. The plasma biochemical picture is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hypereninemic hyperaldosteronism. However, patients with GS present some clinical and biochemical alterations resembling that observed in thiazide diuretics abuse. On the pathophysiological point of view, GS represents a useful and interesting human model to better understand the clinical consequences of plasma hydro-electrolytes and acid-base derangements, associated with multiple hormonal alterations. The impact of this complex disorder involves cardiovascular, muscle-skeletal and some other physiological functions, adversely affecting the patient's quality of life. This review tries to summarize and better explain the linkage between the electrolytes, neurohormonal derangements and clinical picture. Moreover, the differential diagnosis between other similar electrolyte-induced clinical disorders and GS is also discussed.

References

Nov 1, 1975·Kidney International·S GarellaS I Kahn
Jan 1, 1992·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·G ColussiL Minetti
Dec 1, 1974·The American Journal of Medicine·W Z PotterW E Judson
Jun 1, 1995·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·C LüthyM G Bianchetti
Jan 1, 1994·American Journal of Nephrology·G ColussiL Minetti
Oct 1, 1996·Kidney International·J LoffingB Kaissling
Jun 1, 1997·Journal of the American Society of Nephrology : JASN·B C Rossier
Apr 15, 1999·The New England Journal of Medicine·S J ScheinmanD G Warnock
Apr 16, 1999·Muscle & Nerve·N L TangT F Fok
Aug 24, 1999·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·A BettinelliM G Bianchetti
Feb 13, 2001·Kidney International·D N CruzUNKNOWN Yale Gitelman's and Bartter's Syndrome Collaborative Study Group
Jun 16, 2001·Hypertension·D N CruzR P Lifton
Jan 10, 2002·The American Journal of the Medical Sciences·A J Shaer
Jun 1, 2002·Journal of the American Society of Nephrology : JASN·Joke C De JongRené J M Bindels
Jul 12, 2002·Kidney International·Alberto BettinelliMario G Bianchetti
Oct 10, 2002·Kidney International·Gerhard H Giebisch
Apr 11, 2003·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Nai-Lin ChengShih-Hua Lin
Oct 25, 2003·The Journal of Biological Chemistry·Thomas VoetsJoost G J Hoenderop
Jan 30, 2004·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Shih-Hua LinMitchell L Halperin
Mar 23, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Pietro E G FogliaMario G Bianchetti
Jan 29, 2005·Acta Physiologica Scandinavica·S Machida, F W Booth
Jul 1, 2006·Cellular and Molecular Life Sciences : CMLS·D Landau
Mar 3, 2007·Journal of the American Society of Nephrology : JASN·Eva Riveira-MunozUNKNOWN Belgian Network for Study of Gitelman Syndrome
Mar 30, 2007·Clinical Nephrology·R ScognamiglioL A Calò
Apr 20, 2007·The Journal of Biological Chemistry·Jianghui HouDaniel A Goodenough
Aug 3, 2007·The Journal of Clinical Investigation·Wouter M Tiel GroenestegeRené J Bindels
Aug 19, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Giacomo ColussiMario Giovanni Bianchetti
Sep 1, 2007·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Georgina CarrNicholas L Simmons
Dec 29, 2007·Nature Genetics·Michael R Stratton, Nazneen Rahman
Aug 1, 2008·Orphanet Journal of Rare Diseases·Nine V A M Knoers, Elena N Levtchenko
Sep 27, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Nine V A M Knoers
Nov 22, 2008·European Journal of Clinical Investigation·R ScognamiglioA C Pessina

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Citations

Dec 16, 2011·Endocrine·Farid NakhoulDaniella Magen
Feb 18, 2012·American Journal of Physiology. Renal Physiology·Kirk L Hamilton, Daniel C Devor
Jul 10, 2013·BMC Women's Health·Wolfgang RuiszFranz Weidinger
Oct 4, 2012·Journal of Medical Case Reports·Farhan RazaAli Jawa
Mar 19, 2011·Acta Diabetologica·Alper AzakMurat Duranay
Mar 6, 2012·European Journal of Internal Medicine·Kenrick BerendRijk O B Gans
Oct 3, 2014·Endocrine Journal·Jiewei LuoWeihua Li
Apr 5, 2012·Case Reports in Medicine·Anna P KotsiaTheofilos M Kolettis
Dec 3, 2015·Indian Journal of Nephrology·M NandiS Sarkar
Aug 27, 2015·Nefrología : publicación oficial de la Sociedad Española Nefrologia·Wojciech WolyniecMarcin Renke
Oct 29, 2013·The Tohoku Journal of Experimental Medicine·Jong-Ho LeeJin Suk Han
Jul 2, 2015·The New England Journal of Medicine·Michelle L GumzCharles S Wingo
Apr 1, 2014·Endocrinology, Diabetes & Metabolism Case Reports·A TabasumL George
Mar 1, 2013·Annals of Pediatric Endocrinology & Metabolism·Se Ra MinSung Yeon Ahn
Oct 27, 2016·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·Y ZhangN Tong
Jul 16, 2013·Circulation. Cardiovascular Genetics·Brigitte EscoubetMaria-Christina Zennaro
Jun 7, 2018·BMJ Case Reports·Teresa RegoAna Agapito
Sep 10, 2019·Renal Failure·Phatharaporn Kiatpanabhikul, Wasakorn Bunyayothin
Feb 28, 2016·Clinical Chemistry·Roberto DongilliMarkus Herrmann
Apr 28, 2017·BMC Nephrology·Chandrika Jayakanthi SubasingheVajira Harshadeva Weerabaddana Dissanayake
Mar 25, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Sare Gülfem ÖzlüAyşegül Neşe Çıtak Kurt
Jan 28, 2017·BMC Nephrology·Pieter Du Toit van der MerweM Razeen Davids
Jan 31, 2019·BMJ Case Reports·Bhargav GopinathBasavaprabhu Achappa
Jan 20, 2021·BMJ Case Reports·Rita VeríssimoPedro Fidalgo
Apr 24, 2021·Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS·Stephan RombachMartin Alexander Schick
Jun 4, 2021·International Journal of General Medicine·Mei ZhongWensheng Lu

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