Molecular Genetics of Bartter Syndrome
Journal of Pediatric Nephrology,
Vol. 2 No. 1 (2014),
31 January 2014
,
Page 6-14
https://doi.org/10.22037/jpn.v2i1.5610
Abstract
Bartter syndrome (BS) is a heterogeneous disorder, caused by mutations in several genes which mostly encode proteins involved in ions transportation across renal cells in the thick ascending limb of the nephron. It is characterized by deficient renal reabsorption of sodium and chloride, which results in a group of certain symptoms. Different types of BS can be distinguished from different clinical manifestations, and most importantly, via analyzing possible affected gene(s) for its confirmation. A close associated syndrome which was primarily considered as a mild variant of BS, Gitelman syndrome (GS), is characterized by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia. In this review, we discuss different features of BS and also GS, including clinical and genetic alterations which correspond to each type.
Keywords: Bartter Syndrome; Molecular Genetics; Child.
How to Cite
References
Bartter FC, Pronove P, Gill JR, Jr., Maccardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. The American journal of medicine 1962;33:811-828.
Goodman AD, Vagnucci AH, Hartroft PM. Pathogenesis of Bartter's syndrome. The New England journal of medicine 1969;281(26):1435-1439. doi:10.1056/NEJM196912252812601
Miyoshi A, Makino H, Hiramatsu M, et al. Bartter's syndrome--case report. Acta medica Okayama 1979; 33(4):305-314.
Daniluk U, Kaczmarski M, Wasilewska J, Matuszewska E, Semeniuk J, Sidor K, Krasnow A. [Bartter syndrome--case report]. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2004;16 (94):375-377.
Dillon MJ, Shah V, Mitchell MD. Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. The Quarterly journal of medicine 1979;48(191):429-446.
Tsukamoto T, Kobayashi T, Kawamoto K, Fukase M, Chihara K. Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases. American journal of kidney diseases : the official journal of the National Kidney Foundation 1995;25(4):637-641.
Rodriguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 12 1998;(4):315-327.
Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature genetics 1996;12(1):24-30.
Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol 2011;26 (10):1789-1802. doi:10.1007/s00467-011-1871-4
Seyberth HW, Koniger SJ, Rascher W, Kuhl PG, Schweer H. Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. Pediatr Nephrol 1987;1 (3):491-497.
Proesmans W. Bartter syndrome and its neonatal variant. European journal of pediatrics 1997;156 (9):669-679.
Pierratos A, Couture RA, Hierlihy PJ, Bell RC, Levine DZ. Bartter's syndrome, nephrocalcinosis and renal insufficiency. CMAJ: Canadian Medical Association journal = journal de l'Association medicalecanadienne 1989;141(10):1055-1057.
Jeck N, Reinalter SC, Henne T, et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001;108 (1):E5.
Landau D, Shalev H, Ohaly M, Carmi R. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. American journal of medical genetics 1995;59 (4):454-459.
Maruyama H, Shinno Y, Fujiwara K, et al. Nephrocalcinosis and placental findings in neonatal bartter syndrome. AJP reports 2013;3(1):21-24.
James T, Holland NH, Preston D. Bartter syndrome. Typical facies and normal plasma volume. Am J Dis Child 1975;129(10):1205-1207.
Leonhardt A, Timmermanns G, Roth B, Seyberth HW. Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. The Journal of pediatrics 1992;120(4 Pt 1):546-554.
Williams MP, Jones CL, Johnstone LM, Walker RG, McCredie DA, Powell HR. An extreme example of the neonatal form of Bartter's syndrome. Pediatr Nephrol 1996; 10(4):496-497.
Betinnelli A, Casari G, Mastroianni N. Atypical cases of the hypercalciuric variant of Bartter syndrome: importance of molecular diagnosis. Pediatr Nephrol 1997;11:C49.
Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature genetics 1997;17(2):171-178. doi:10.1038/ng1097-171.
Clive DM. Bartter's syndrome: the unsolved puzzle. American journal of kidney diseases : the official journal of the National Kidney Foundation 1995;25 (6):813-823.
Marco-Franco JE, Morey A, Ventura C, Gasco JM, Alarcon A. Long-term evolution and growth patterns in a family with Bartter's syndrome. Clinical nephrology 1994;42(1):33-37.
Bettinelli A, Metta MG, Perini A, Basilico E, Santeramo C. Long-term follow-up of a patient with Gitelman's syndrome. Pediatric Nephrology 1993;7 (1):67-68.
Smilde TJ, Haverman JF, Schipper P, et al. Familial hypokalemia/hypomagnesemia and chondrocalcinosis. The Journal of rheumatology 1994;21 (8):1515-1519.
Luthy C, Bettinelli A, Iselin S, et al. Normal prostaglandinuria E2 in Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. American journal of kidney diseases : the official journal of the National Kidney Foundation 1995;25 (6):824-828.
Hebert SC. Bartter syndrome. Current opinion in nephrology and hypertension 2003;12 (5):527-532.
Birkenhager R, Otto E, Schurmann MJ, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nature genetics 2001;29 (3):310-314.
Vargas-Poussou R, Huang C, Hulin P, et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. Journal of the American Society of Nephrology : JASN 2002;13(9):2259-2266.
Károlyi L, Konrad M, Köckerling A, et al. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Human Molecular Genetics 1997;6(1):17-26.
Brochard K, Boyer O, Blanchard A, et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(5):1455-1464.
Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. Journal of the American Society of Nephrology. JASN 2009;20(1):145-153.
Konrad M, Vollmer M, Lemmink HH, et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. Journal of the American Society of Nephrology. JASN 2000;11(8):1449-1459.
Ohlsson A, Sieck U, Cumming W, Akhtar M, Serenius F. A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis. Acta paediatrica Scandinavica 1984;73(6):868-874.
Proesmans W, Devlieger H, Van Assche A, et al. Bartter syndrome in two siblings--antenatal and neonatal observations. The International journal of pediatric nephrology 1985;6(1):63-70.
Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature genetics 1996;13(2):183-188.
Gonzalez-Villalobos RA, Janjoulia T, Fletcher NK, Giani JF, Nguyen MT, Riquier-Brison AD, et al. The absence of intrarenal ACE protects against hypertension. The Journal of clinical investigation 2013;123(5):2011-2023.
Richardson C, Sakamoto K, de los Heros P, et al. Regulation of the NKCC2 ion cotransporter by SPAK-OSR1-dependent and -independent pathways. Journal of cell science 2001;124(Pt 5):789-800.
Markadieu N, Delpire E. Physiology and pathophysiology of SLC12A1/2 transporters. Pflugers Archiv : European journal of physiology 2014;466(1):91-105.doi:10.1007/s00424-0131370- 5
Mederle K, Mutig K, Paliege A, et al. Loss of WNK3 is compensated for by the WNK1/SPAK axis in the kidney of the mouse. American Journal of Physiology-Renal Physiology 2013;304(9):F1198-F1209.
Bailey MA, Cantone A, Yan Q, et al. Maxi-K channels contribute to urinary potassium excretion in the ROMK-deficient mouse model of Type II Bartter's syndrome and in adaptation to a high-K diet. Kidney international 2006;70(1):51-59.
Simon DB, Karet FE, Rodriguez-Soriano J, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature genetics 1996;14(2):152-156.
Derst C, Konrad M, Kockerling A, et al. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochemical and biophysical research communications1997;230(3):641-645. doi:10.1006/bbrc.1996.6024
Malnic G, Klose RM, Giebisch G. Microperfusion study of distal tubular potassium and sodium transfer in rat kidney. The American journal of physiology 1996;211(3):548-559.
Hebert SC, Mount DB, Gamba G. Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family. Pflugers Archiv : European journal of physiology2004;447(5):580-593. doi:10.1007/s00424-003-1066-3
Liu Z, Wang HR, Huang CL. Regulation of ROMK channel and K+ homeostasis by kidney-specific WNK1 kinase. The Journal of biological chemistry 2009;284(18):12198-12206. doi:10.1074/jbc.M806551200
Murthy M, Cope G, O'Shaughnessy KM. The acidic motif of WNK4 is crucial for its interaction with the K channel ROMK. Biochemical and biophysical research communications 2008;375(4):651-654.
Yue P, Lin DH, Pan CY, et al. Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels. Proceedings of the National Academy of Sciences of the United States of America2009;106(35):15061-15066. doi:10.1073/pnas.0907855106
Lin DH, Yue P, Pan CY, et al. POSH stimulates the ubiquitination and the clathrin-independent endocytosis of ROMK1 channels. The Journal of biological chemistry 2009;284(43):29614-29624. doi:10.1074/jbc.M109.041582
Lin D, Sterling H, Lerea KM, Giebisch G, Wang WH. Protein kinase C (PKC)-induced phosphorylation of ROMK1 is essential for the surface expression of ROMK1 channels. The Journal of biological chemistry 2002;277(46):44278-44284.
Matsushita Y, Suzuki Y, Oya N, et al. Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome. Prenatal diagnosis 1999;19(7):671-673
Andrini O, Keck M, L'Hoste S, et al. CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca dependence of ClC-Kb channels. Pflugers Archiv : European journal of physiology November 2013. 10.1007/s00424-013-1401-2
Keck M, Andrini O, Lahuna O, et al. Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression. Human mutation 2013;34(9):1269-1278. doi:10.1002/humu.22361.
Su X, Chang P, Liu Z, Yan M, Liu G, Cui H. Association of CLCNKB haplotypes and hypertension in Mongolian and Han populations. Clin Exp Hypertens 2012;34(7):482-487. doi:10.3109/10641963.2012.666602
Estevez R, Boettger T, Stein V, et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 2001;414(6863):558-561.
Uchida S, Sasaki S. Function of chloride channels in the kidney. Annual review of physiology 2005;67:759-778.
Park CW, Lim JH, Youn DY, et al. Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. Clinical nephrology 2011;75 Suppl 1:69-74.
Kramer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nature clinical practice Nephrology 2008;4(1):38-46.
Nozu K, Inagaki T, Fu XJ, et al. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. Journal of medical genetics 2008;45(3):182-186. doi:10.1136/jmg.2007.052944
Riazuddin S, Anwar S, Fischer M, et al. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. American journal of human genetics 2009;85 (2):273-280.
Watanabe S, Fukumoto S, Chang H, et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002;360 (9334):692-694.
Kinoshita Y, Hori M, Taguchi M, Watanabe S, Fukumoto S. Functional Activities of Mutant Calcium-Sensing Receptors Determine Clinical Presentations in Patients With Autosomal Dominant Hypocalcemia. The Journal of clinical endocrinology and metabolism2013;jc20133430. doi:10.1210/jc.2013-3430
Chattopadhyay N, Brown EM. Role of calcium-sensing receptor in mineral ion metabolism and inherited disorders of calcium-sensing. Molecular genetics and metabolism 2006;89(3):189-202.
Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best practice & research Clinical rheumatology2008;22(1):129-148. doi:10.1016/j.berh.2007.11.006
Ranieri M, Tamma G, Di Mise A, et al. Excessive Signal Transduction of Gain-of-Function Variants of the Calcium-Sensing Receptor (CaSR) Are Associated with Increased ER to Cytosol Calcium Gradient. 2013;PloS one 8 (11):e79113. doi:10.1371/journal.pone.0079113
Robitaille P, Merouani A, He N, Pei Y. Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness. European journal of pediatrics 2011;170(9):1209-1211.
Verberckmoes R, van Damme BB, Clement J, Amery A, Michielsen P. Bartter's syndrome with hyperplasia of renomedullary cells: successful treatment with indomethacin. Kidney international 1976;9(3):302-307.
Zhu JX, Xue H, Ji T, Xing Y. Cellular localization of NKCC2 and its possible role in the Cl- absorption in the rat and human distal colonic epithelia. Translational research : the journal of laboratory and clinical medicine 2011;158(3):146-154.
Ji T, Liu S, Zheng LF, et al. Cellular distribution of NKCC2 in the gastric mucosa and its response to short-term osmotic shock. Cell and tissue research 2012;348(1):155-165.
Lopes CM, Zhang H, Rohacs T, Jin T, Yang J, Logothetis DE. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 2002; 34(6):933-944.
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