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1. Full Text Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics
by Matsunoshita, Natsuki and Nozu, Kandai and Shono, Akemi and Nozu, Yoshimi and Fu, Xue Jun and Morisada, Naoya and Kamiyoshi, Naohiro and Ohtsubo, Hiromi and Ninchoji, Takeshi and Minamikawa, Shogo and Yamamura, Tomohiko and Nakanishi, Koichi and Yoshikawa, Norishige and Shima, Yuko and Kaito, Hiroshi and Iijima, Kazumoto
Genetics in Medicine, ISSN 1098-3600, 02/2016, Volume 18, Issue 2, pp. 180 - 188
Purpose: Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS -(p-BS/GS), which are clinically difficult to... 
Bartter syndrome | Gitelman syndrome | salt-losing tubulopathy | pseudo-Gitelman | pseudo-Bartter | CLCNKB | HYPOKALEMIC ALKALOSIS | MOLECULAR ANALYSIS | GLOMERULAR-FILTRATION-RATE | ANOREXIA-NERVOSA | CHLORIDE CHANNEL GENE | GENETICS & HEREDITY | COTRANSPORTER | DEAFNESS | MUTATIONS | Diagnosis, Differential | Gitelman Syndrome - physiopathology | Humans | Bartter Syndrome - diagnosis | Child, Preschool | Male | Laxatives - adverse effects | Sodium - urine | Bartter Syndrome - genetics | DNA Mutational Analysis | Adolescent | Chlorides - urine | Gitelman Syndrome - diagnosis | Adult | Female | Bartter Syndrome - physiopathology | Gitelman Syndrome - genetics
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2. Case report - Gitelman's syndrome
by Chowta, Nithyananda K and Chowta, Mukta N
Case report - Gitelman's syndrome, 12/2006
Gitelman's syndrome is primarily renal tubular hypokalemic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder, inherited as... 
Hypocalciuria, hypokalemia, Bartter's syndrome
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3. Full Text Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
by Blanchard, Anne and Bockenhauer, Detlef and Bolignano, Davide and Calò, Lorenzo A and Cosyns, Etienne and Devuyst, Olivier and Ellison, David H and Karet Frankl, Fiona E and Knoers, Nine V.A.M and Konrad, Martin and Lin, Shih-Hua and Vargas-Poussou, Rosa
Kidney International, ISSN 0085-2538, 01/2017, Volume 91, Issue 1, pp. 24 - 33
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease... 
hypokalemic metabolic alkalosis | hypomagnesemia | SLC12A3 | thiazide-sensitive sodium-chloride cotransporter | salt-losing tubulopathy | Hypokalemia/blood | Angiotensin-Converting Enzyme Inhibitors/therapeutic use | Diagnosis, Differential | Anti-Inflammatory Agents, Non-Steroidal/therapeutic use | Genetic Testing | Bartter Syndrome/blood | Chloride Channels/genetics | Potassium/administration & dosage | Humans | Consensus Development Conferences as Topic | Rare Diseases/genetics | Sodium Chloride, Dietary/therapeutic use | Gitelman Syndrome/complications | Phenotype | Solute Carrier Family 12, Member 3/genetics | Ultrasonography | Calcium/urine | Quality of Life | Magnesium/administration & dosage | Angiotensin Receptor Antagonists/therapeutic use | Mutation | Chondrocalcinosis/etiology | Dietary Supplements | Practice Guidelines as Topic | SERUM POTASSIUM | FOLLOW-UP | HYPOKALEMIC ALKALOSIS | THERAPEUTIC APPROACH | BARTTERS-SYNDROME | BLOOD-PRESSURE | NCC GENE | GLUCOSE-METABOLISM | UROLOGY & NEPHROLOGY | CHANNEL GENE | SODIUM-CHLORIDE COTRANSPORTER | Rare Diseases - genetics | Gitelman Syndrome - drug therapy | Hypokalemia - blood | Magnesium - administration & dosage | Bartter Syndrome - diagnosis | Chloride Channels - genetics | Bartter Syndrome - urine | Angiotensin-Converting Enzyme Inhibitors - therapeutic use | Bartter Syndrome - genetics | Solute Carrier Family 12, Member 3 - genetics | Bartter Syndrome - blood | Chondrocalcinosis - prevention & control | Sodium Chloride, Dietary - therapeutic use | Calcium - urine | Magnesium - therapeutic use | Anti-Inflammatory Agents, Non-Steroidal - therapeutic use | Potassium - administration & dosage | Chondrocalcinosis - etiology | Potassium - therapeutic use | Gitelman Syndrome - complications | Gitelman Syndrome - diagnosis | Potassium - blood | Gitelman Syndrome - genetics | Angiotensin Receptor Antagonists - therapeutic use | Hypokalemia - genetics | Magnesium - blood
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4. Bartter Syndrome and Gitelman Syndrome
by Fulchiero, Rosanna and Seo-Mayer, Patricia
Pediatric Clinics of North America, ISSN 0031-3955, 02/2019, Volume 66, Issue 1, pp. 121 - 134
Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic... 
Failure to thrive | Polyuria | Gitelman syndrome (GS) | Bartter syndrome (BS) | Hypokalemic hypochloremic metabolic alkalosis | Salt-losing tubulopathy | MANAGEMENT | CHANNEL GENE CLCNKB | SENSORINEURAL DEAFNESS | HYPOCALCEMIA | TRANSPLANTATION | CALCIUM-SENSING RECEPTOR | GROWTH-HORMONE | PEDIATRICS | MUTATIONS | REABSORPTION | Diagnosis, Differential | Bartter Syndrome - therapy | Humans | Bartter Syndrome - diagnosis | Gitelman Syndrome - diagnosis | Gitelman Syndrome - therapy | Child
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5. Full Text Impaired phosphorylation of Na+-K+-2Cl− cotransporter by oxidative stress-responsive kinase-1 deficiency manifests hypotension and Bartter-like syndrome
by Shih-Hua Lin and I-Shing Yu and Si-Tse Jiang and Shu-Wha Lin and Pauling Chu and Ann Chen and Huey-Kang Sytwu and Eisei Sohara and Shinichi Uchida and Sei Sasaki and Sung-Sen Yang
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 10/2011, Volume 108, Issue 42, pp. 17538 - 17543
Na + -K + -2Cl − cotransporters (NKCCs), including NKCC1 and renal-specific NKCC2, and the Na + -Cl − cotransporter (NCC) play pivotal roles in the regulation... 
Bartter syndrome | Hormone | Electrolytes | Knockout mice | Volume | NA-CL COTRANSPORTER | knockout mice | CATION-CHLORIDE COTRANSPORTERS | SMOOTH-MUSCLE TONE | MULTIDISCIPLINARY SCIENCES | RENAL-FUNCTION | NA-K-2CL COTRANSPORTER | HYPOKALEMIC ALKALOSIS | electrolytes | BLOOD-PRESSURE | GITELMAN-SYNDROME | hormone | volume | TARGETED DISRUPTION | MOLECULAR PATHOGENESIS | Bartter Syndrome - metabolism | Potassium - metabolism | Protein-Serine-Threonine Kinases - deficiency | Phosphorylation | Water-Electrolyte Balance - physiology | Protein-Serine-Threonine Kinases - genetics | Aorta - metabolism | Sodium - metabolism | Sodium-Potassium-Chloride Symporters - metabolism | Hypotension - genetics | Receptors, Drug - metabolism | Symporters - metabolism | Mice, Knockout | Solute Carrier Family 12, Member 1 | Animals | Hypotension - metabolism | Solute Carrier Family 12, Member 2 | Solute Carrier Family 12, Member 3 | Bartter Syndrome - genetics | Blood Pressure - physiology | Mice | Kidney Tubules - metabolism | Protein-Serine-Threonine Kinases - metabolism | Disease Models, Animal | Biological Sciences
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6. Full Text Bartter syndrome
by Hebert, Steven C
Current Opinion in Nephrology and Hypertension, ISSN 1062-4821, 09/2003, Volume 12, Issue 5, pp. 527 - 532
PURPOSE OF REVIEWThis review describes recent advances in our understanding of the genetic heterogeneity, pathophysiology and treatment of Bartter syndrome, a... 
Extracellular calcium ion-sensing receptor | Hypokalemic metabolic alkalosis | Thick ascending limb | Renal tubule | Inherited disorder | Barttin | ClC-K | Chloride ion channel | Sodium chloride | Kidney | GITELMAN | INNER-EAR | extracellular calcium ionsensing receptor | SENSORINEURAL DEAFNESS | CIC-K | thick ascending limb | renal tubule | MICE LACKING | chloride ion channel | kidney | CALCIUM-SENSING RECEPTOR | CHLORIDE CHANNEL GENE | inherited disorder | hypokalemic metabolic alkalosis | UROLOGY & NEPHROLOGY | PERIPHERAL VASCULAR DISEASE | MUTATIONS | K+ CHANNEL | barttin | ROMK | sodium chloride | POTASSIUM CHANNEL | Ion Channels - genetics | Bartter Syndrome - physiopathology | Bartter Syndrome - therapy | Bartter Syndrome - genetics | Humans
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7. Full Text Gitelman's syndrome with hyperphosphatemia, effectively responding to single oral magnesium oxide administration A case report
by Miya, A and Nakamura, A and Kameda, H and Nozu, K and Miyoshi, H and Atsumi, T
MEDICINE, ISSN 0025-7974, 07/2019, Volume 98, Issue 28, p. e16408
Rationale: The Gitelman's syndrome (GS) is characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria. However, the involvement of... 
parathyroid hormone | MEDICINE, GENERAL & INTERNAL | HORMONE | hyperphosphatemia | DISEASE | hypomagnesemia | COTRANSPORTER GENE | Gitelman's syndrome | MUTATIONS | hypocalciuric hypocalcemia | BARTTERS-SYNDROME | Antacids - therapeutic use | Hyperphosphatemia - complications | Gitelman Syndrome - drug therapy | Administration, Oral | Magnesium Oxide - therapeutic use | Humans | Gitelman Syndrome - complications | Adult | Female | Hyperphosphatemia - drug therapy | Hyperphosphatemia - genetics | Gitelman Syndrome - genetics | Case studies | Usage | Genetic disorders | Magnesium oxide | Phosphorus imbalance | Kidney diseases | Drug therapy
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8. Gitelman Syndrome
by Mustafa, QU and Haroon, ZH and Ijaz, A and Sajid, MT and Ayyub, M
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, ISSN 1022-386X, 03/2017, Volume 27, Issue 3, pp. S30 - S32
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign... 
Gitelman syndrome | Bartter syndrome | MEDICINE, GENERAL & INTERNAL | Magnesium | Potassium | Metabolic alkalosis | Young Adult | Male | Humans | Gitelman Syndrome - diagnosis
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9. Full Text Pathophysiology of antenatal Bartterʼs syndrome
by Kömhoff, Martin and Laghmani, Kamel
Current Opinion in Nephrology and Hypertension, ISSN 1062-4821, 09/2017, Volume 26, Issue 5, pp. 419 - 425
PURPOSE OF REVIEWAntenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of... 
prostaglandin E 2 | antenatal Bartter syndrome | acute recurrent polyhydramnios | tubuloglomerular feedback | melanoma-associated antigen D2 | PROTEIN | RETICULUM-ASSOCIATED DEGRADATION | PHENOTYPE | SALT-LOSING TUBULOPATHIES | UBIQUITIN LIGASES | prostaglandin E-2 | MACULA DENSA | COTRANSPORTER | UROLOGY & NEPHROLOGY | CYCLOOXYGENASE-2 EXPRESSION | PERIPHERAL VASCULAR DISEASE | NKCC2 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | Antigens, Neoplasm - genetics | Sodium Chloride Symporters - metabolism | Humans | Bartter Syndrome - complications | Male | Sodium-Potassium-Chloride Symporters - metabolism | Premature Birth - etiology | Fetal Diseases - genetics | Pregnancy | Fetal Diseases - physiopathology | Renal Reabsorption | Polyhydramnios - etiology | Bartter Syndrome - genetics | Adaptor Proteins, Signal Transducing - genetics | Female | Bartter Syndrome - physiopathology | Polyuria - etiology | Mutation | Sodium Chloride - metabolism
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10. Full Text Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects
by Seyberth, Hannsjörg W and Schlingmann, Karl P
Pediatric Nephrology, ISSN 0931-041X, 10/2011, Volume 26, Issue 10, pp. 1789 - 1802
Salt-losing tubulopathies with secondary hyperaldosteronism (SLT) comprise a set of well-defined inherited tubular disorders. Two segments along the distal... 
Bartter syndrome | Gitelman syndrome | Pediatrics | Prostaglandins | Treatment | Medicine & Public Health | Salt-losing tubulopathies | Classification | Secondary hyperaldosteronism | Differential diagnosis | HYPERPROSTAGLANDIN-E SYNDROME | SENSORINEURAL DEAFNESS | AUTOSOMAL-DOMINANT HYPOCALCEMIA | PRETERM INFANTS | CHLORIDE CHANNEL GENE | CALCIUM-SENSING RECEPTOR | TUBULAR HYPOKALEMIC DISORDERS | UROLOGY & NEPHROLOGY | PEDIATRICS | MUTATIONS | K+ CHANNEL | LONG-TERM TREATMENT | Gitelman Syndrome - pathology | Kidney Tubules, Distal - pathology | Bartter Syndrome - therapy | Prognosis | Kidney Diseases - pathology | Humans | Hyperaldosteronism - pathology | Kidney Diseases - diagnosis | Aldosterone - physiology | Bartter Syndrome - diagnosis | Hyperaldosteronism - complications | Loop of Henle - metabolism | Aldosterone - pharmacology | Loop of Henle - pathology | Nephrons - pathology | Bartter Syndrome - pathology | Gitelman Syndrome - diagnosis | Kidney Diseases - therapy | Adult | Female | Gitelman Syndrome - therapy | Salts - metabolism | Kidney Tubules - pathology | Educational Review
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11. Full Text Gitelman Syndrome
by Roser, Mattias and Eibl, Nermin and Eisenhaber, Birgit and Seringer, Jasmin and Nagel, Mato and Nagorka, Sylvia and Luft, Friedrich C and Frei, Ulrich and Gollasch, Maik
Hypertension, ISSN 0194-911X, 06/2009, Volume 53, Issue 6, pp. 893 - 897
NA-CL COTRANSPORTER | PHYSIOLOGY | BARTTERS | HYPOCALCIURIA | PERIPHERAL VASCULAR DISEASE | HYPOKALEMIC ALKALOSIS | MUTATIONS | PREVALENCE | BLOOD-PRESSURE | Severity of Illness Index | Genetic Predisposition to Disease | Gitelman Syndrome - drug therapy | Prognosis | Blood Chemical Analysis | Risk Assessment | Muscle Weakness - diagnosis | Humans | Male | Hypotension - diagnosis | Magnesium Deficiency - diagnosis | Kidney Function Tests | Magnesium - therapeutic use | Young Adult | Hypotension - drug therapy | Pedigree | Muscle Weakness - drug therapy | Potassium - therapeutic use | Gitelman Syndrome - diagnosis | Magnesium Deficiency - drug therapy | Adult | Female | Drug Therapy, Combination | Dietary Supplements
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12. Full Text Bartter's and Gitelman's syndrome
by Seyberth, Hannsjörg W and Weber, Stefanie and Kömhoff, Martin
Current Opinion in Pediatrics, ISSN 1040-8703, 04/2017, Volume 29, Issue 2, pp. 179 - 186
Purpose of review The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic... 
diagnostic and therapeutic management | Gitelman's syndrome | Bartter's syndrome | clinical presentations | physiologic and pharmacologic classification | HYPERPARATHYROIDISM | COTRANSPORTER | PEDIATRICS | MUTATIONS | NKCC2 | HYPOKALEMIA
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13. Full Text Endocochlear potential depends on Cl- channels: Mechanism underlying deafness in Bartter syndrome IV
by Rickheit, Gesa and Maier, Hannes and Strenzke, Nicola and Aneescu, Corina and Zeeuw, Chris and Muenscher, Aian and Zdebik, Anselm and Jentsch, Thomas
The EMBO Journal, ISSN 0261-4189, 11/2008, Volume 27, Issue 21, pp. 2907 - 2917
textabstractHuman Bartter syndrome IV is an autosomal recessive disorder characterized by congenital deafness and severe renal salt and fluid loss. It is... 
otoacoustic emission | potassium recycling | inner ear | anion transport | Sox10 | Potassium recycling | Anion transport | Otoacoustic emission | Inner ear | OUTER HAIR-CELLS | INNER-EAR | CHLORIDE CHANNELS | ALPHA-SUBUNIT | BIOCHEMISTRY & MOLECULAR BIOLOGY | SENSORINEURAL DEAFNESS | STRIA VASCULARIS | CELL BIOLOGY | TIGHT JUNCTIONS | DOMINANT DEAFNESS | K CHANNELS | BETA-SUBUNIT | Stria Vascularis - pathology | Hair Cells, Auditory - metabolism | Hair Cells, Auditory - pathology | Humans | Stria Vascularis - ultrastructure | Evoked Potentials - physiology | Vestibule, Labyrinth - metabolism | DNA-Binding Proteins - metabolism | Endolymph | Cochlea - metabolism | Gene Deletion | SOXE Transcription Factors | Integrases - metabolism | Membrane Proteins - metabolism | Bartter Syndrome - metabolism | High Mobility Group Proteins - metabolism | Mice, Inbred C57BL | Bartter Syndrome - complications | Cochlea - physiopathology | Vestibule, Labyrinth - physiopathology | Vestibule, Labyrinth - pathology | Mice, Knockout | Chloride Channels - metabolism | Transcription Factors - metabolism | Animals | Deafness - complications | Deafness - metabolism | Models, Biological | Cochlea - pathology | Mice | Proteins | Deafness | Genetic disorders | Mutation | Molecular biology | Genes
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14. Full Text SPAK-knockout mice manifest Gitelman syndrome and impaired vasoconstriction
by Yang, Sung-Sen and Lo, Yi-Fen and Wu, Chin-Chen and Lin, Shu-Wha and Yeh, Chien-Ju and Chu, Pauling and Sytwu, Huey-Kang and Uchida, Shinichi and Sasaki, Sei and Lin, Shih-Hua
Journal of the American Society of Nephrology, ISSN 1046-6673, 11/2010, Volume 21, Issue 11, pp. 1868 - 1877
Polymorphisms in the gene encoding sterile 20/SPS1-related proline/alanine-rich kinase (SPAK) associate with hypertension susceptibility in humans SPAK... 
NA-CL COTRANSPORTER | OSR1 | UROLOGY & NEPHROLOGY | NA-K-2CL COTRANSPORTER | HYPOKALEMIC ALKALOSIS | HYPERTENSION | NA+-K+-2CL(-) COTRANSPORTER | VASCULAR SMOOTH-MUSCLE | BLOOD-PRESSURE | BARTTERS-SYNDROME | WNK KINASES | Protein-Serine-Threonine Kinases - deficiency | Male | Sodium-Potassium-Chloride Symporters - metabolism | Vasoconstriction - physiology | Hypotension - physiopathology | Hydrochlorothiazide - pharmacology | Female | Blood Pressure - physiology | Aorta - physiopathology | Disease Models, Animal | Sodium Chloride Symporters - metabolism | Gitelman Syndrome - physiopathology | Diuretics - pharmacology | Aorta - drug effects | Mice, Inbred C57BL | Protein-Serine-Threonine Kinases - genetics | Mice, Transgenic | Vasoconstriction - drug effects | Mice, Knockout | Transcription Factors - metabolism | Animals | Hypotension - metabolism | Mice | Gitelman Syndrome - metabolism | Furosemide - pharmacology | Basic Research
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15. Full Text Clinical and genetic spectrum of bartter syndrome type 3
by Seys, Elsa and Andrini, Olga and Keck, Mathilde and Mansour-Hendili, Lamisse and Courand, Pierre-Yves and Simian, Christophe and Deschenes, Georges and Kwon, Theresa and Bertholet-Thomas, Aurélia and Bobrie, Guillaume and Borde, Jean Sébastien and Bourdat-Michel, Guylhène and Decramer, Stéphane and Cailliez, Mathilde and Krug, Pauline and Cozette, Paul and Delbet, Jean Daniel and Dubourg, Laurence and Chaveau, Dominique and Fila, Marc and Jourde-Chiche, Noémie and Knebelmann, Bertrand and Lavocat, Marie-Pierre and Lemoine, Sandrine and Djeddi, Djamal and Llanas, Brigitte and Louillet, Ferielle and Merieau, Elodie and Mileva, Maria and Mota-Vieira, Luisa and Mousson, Christiane and Nobili, François and Novo, Robert and Roussey-Kesler, Gwenaëlle and Vrillon, Isabelle and Walsh, Stephen B and Teulon, Jacques and Blanchard, Anne and Vargas-Poussou, Rosa
Journal of the American Society of Nephrology, ISSN 1046-6673, 08/2017, Volume 28, Issue 8, pp. 2540 - 2552
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene... 
KIDNEY-DISEASE | DISTAL NEPHRON | CHLORIDE CHANNEL GENE | CALCIUM-SENSING RECEPTOR | GROWTH-HORMONE | CLCNKB | UROLOGY & NEPHROLOGY | SALT-LOSING TUBULOPATHIES | HYPOKALEMIC ALKALOSIS | MUTATIONS | GITELMAN-SYNDROME | Genetic Association Studies | Humans | Bartter Syndrome - diagnosis | Child, Preschool | Infant | Male | Young Adult | Bartter Syndrome - genetics | Adolescent | Adult | Female | Retrospective Studies | Mutation | Child | Life Sciences | Bartter-s syndrome | human genetics | chronic kidney disease | Clinical Research | proteinuria
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