A síndrome de Bartter é um grupo de doenças tubulares renais raras caracterizadas por comprometimento da reabsorção de sal no ramo ascendente espesso da alça de Henle e clinicamente pela associação de alcalose hipocalêmica, hipercalciúria/nefrocalcinose, níveis aumentados de renina e aldosterona plasmáticas, pressão arterial baixa e resistência vascular à angiotensina II.
Introdução
O que você precisa saber de cara
A síndrome de Bartter é um grupo de doenças tubulares renais raras caracterizadas por comprometimento da reabsorção de sal no ramo ascendente espesso da alça de Henle e clinicamente pela associação de alcalose hipocalêmica, hipercalciúria/nefrocalcinose, níveis aumentados de renina e aldosterona plasmáticas, pressão arterial baixa e resistência vascular à angiotensina II.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 87 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830). Most likely acts as a
Basolateral cell membrane
Bartter syndrome 4A, neonatal, with sensorineural deafness
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness.
Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:16849430, Pu
Basolateral cell membrane
Bartter syndrome 3
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.
Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:18310267, Pu
Basolateral cell membrane
Bartter syndrome 4B, neonatal, with sensorineural deafness
A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.
Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule
Bartter syndrome 5, antenatal, transient
An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by exte
Cell membrane
Bartter syndrome 2, antenatal
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
Renal sodium, potassium and chloride non-electrogenic ion symporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). It can substitute NH4(+) for K(+), enabling NH4(+) apical transmembrane transport in the medullary thick ascending limb (MTAL). This function is crucial for maintaining ammonium homeostasis by the kidney, particularly during metabolic acidosis (By simila
Apical cell membrane
Bartter syndrome 1, antenatal
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
Variantes genéticas (ClinVar)
266 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 140 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Bartter
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.
Globally, chronic kidney disease (CKD) affects over 800 million individuals and is characterized by significant genetic complexity. More than 600 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of genetic syndromes associated with CKD, or who were asymptomatic but had a positive family history of CKD. Extensive genetic testing (targeted gene panels and whole-exome sequencing-WES) identified a mutation in the PKD1 gene in 3 out of 10 cases. In one patient, a known mutation in the PKD2 gene was identified. Another four patients were diagnosed with Alport syndrome: three of these presented with de novo missense mutations in the COL4A5 gene, and one patient had a mutation in the COL4A3 gene. One patient was diagnosed with MODY5, caused by a known mutation in the HNF1B gene, and one patient was diagnosed with Bartter syndrome type 1, resulting from a known mutation in the SLC12A1 gene. We present genotype-phenotype correlations, highlighting the particularities of each patient within their family context. Our findings emphasize the importance of genotype-phenotype correlations in refining diagnosis, personalizing therapeutic management, and providing essential genetic counseling for at-risk relatives.
Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.
Bartter syndrome (BS) is a group of diseases caused by variants in genes related to salt reabsorption in the thick ascending limb of the loop of Henle. It causes dysregulation in salt homeostasis and is characterized by hyperplasia and hypertrophy of the juxtaglomerular apparatus, hyperaldosteronism, hypokalemic alkalosis and impaired growth and development. BS type IVa is caused by variants in BSND, which encodes Barttin, a subunit for chloride channels (CLC). This specific subtype also causes sensorineural deafness due to its impact on CLC-kidney a (Ka), a channel important for the production of endolymph in the inner ear. In the present study, the case of a Brazilian girl diagnosed with BS Iva was presented, whose molecular diagnosis revealed a novel variant, c.784delG;p.(Ala262Profs*68), compound heterozygous with c.139G>A;p.Gly47Arg. This novel variant appears to be the first BS IVa causing variant described in exon 4, which encodes for the later part of the cytoplasmatic C-terminal unstructured tail. In silico analysis of this variant predicted the resulting frameshift as disease causing, due to alteration in significant portion of the protein. While the authors suggest this variant may cause erroneous membrane sorting of the CLC type channels, further studies are necessary to elucidate the mechanism.
Transient antenatal Bartter syndrome type 5 presenting as shock and metabolic acidosis in a preterm neonate.
A preterm male neonate born at 28 + 2 weeks gestation, with a birth weight of 1520 g (large for gestational age) and antenatal polyhydramnios, presented with prematurity, early-onset sepsis, and septic shock. Between days 4 and 9 of life, the neonate developed marked polyuria, hyponatremia, and compensated metabolic acidosis with normal to transiently elevated serum potassium levels, initially obscuring the diagnosis of a tubular disorder. Subsequently, the biochemical profile evolved to hypokalemia, metabolic alkalosis, and hypercalciuria, consistent with Bartter syndrome. The clinical course improved with fluid resuscitation, targeted electrolyte correction, and supportive care including respiratory, inotropic support and antibiotic therapy. Whole exome sequencing identified a novel frameshift variant, chrX:54837417delT (c.701delT; p.Leu234TrpfsTer12), in exon 4 of the MAGED2 gene. The neonate was discharged in stable condition on day 47 of life (weight 1775 g). This report highlights the diagnostic challenges of neonatal polyuria and salt-wasting syndromes in the setting of prematurity and sepsis and underscores the value of genetic confirmation for prognosis and counseling.
Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review.
We present a case study of a 34-year-old man with morbid obesity and a suspected Bartter-Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels. The clinical presentation suggested renal tubular salt wasting. Post-sleeve gastrectomy, the patient had sustained and prolonged normalization in his electrolytes without the use of any medications. This provides evidence of a possible relationship between metabolic surgery and renal tubular function. This case supports recognizing a suspected tubulopathy in candidates for metabolic surgery. Bartter syndrome represents an autosomal recessive disorder of renal salt reabsorption that leads to extracellular fluid volume depletion with low or normal blood pressure. The condition features multiple electrolyte abnormalities, including hypokalemia and hypochloremia, and, in selected cases, hypomagnesemia. Additional abnormalities include elevated renin levels, secondary hyperaldosteronism, and increased prostaglandin E2 activity. The associated acid–base disturbance typically manifests as metabolic alkalosis. Clinical presentation frequently occurs during infancy and includes failure to thrive. Distinct phenotypes are classified based on the specific site of impaired renal salt transport, reflecting heterogeneity in underlying tubular defects. Major clinical variants include neonatal or antenatal Bartter syndrome, classic Bartter syndrome, and Gitelman syndrome, each associated with characteristic clinical and biochemical features. More than 100 genetic mutations have been identified to date, highlighting the molecular complexity of Bartter syndrome. Ongoing advances in genetic characterization support improved diagnostic accuracy and may facilitate the development of targeted therapeutic strategies.
Acute Kidney Injury in Children with Polyuria: A Systematic Review.
Objectives: Children may present with acute kidney injury (AKI) and polyuria under certain conditions which can complicate diagnosis and management. This review seeks to synthesize AKI presentations in children with polyuria. Methods: Publications for this systematic review were searched using Embase, PubMed, and Scopus. Methodological quality assessment of the included study and case reports was performed. Results: From the selected studies, we obtained data on 32 patients with a mean age of 11.02 ± 2.82 years, including 13 males and 19 females. Among them, 26 presented with polyuria: 19 with diabetic ketoacidosis (DKA), 5 with new-onset type 1 diabetes mellitus (T1DM) without DKA, 1 with Bartter syndrome, and 1 with neuroblastoma. In 12 patients with DKA, data to calculate AKI prevalence were not available. Among the remaining 20 patients (all with polyuria), 9 (45%) developed AKI. AKI stage 3 was observed in 4 patients and stage 2 in 1 patient. For the remaining 5 patients with AKI, no information about the AKI stage was available. Conclusions: AKI can present with polyuria as part of its pathophysiological mechanism. A relationship between polyuria and AKI (with KDIGO stage ≥ 2) was found in metabolic disorders (DKA), nephrological diseases (Bartter syndrome), and oncological conditions (neuroblastoma).
Publicações recentes
Adult-Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report.
Antenatal Bartter Syndrome Type 4a: Ibuprofen Treatment for a Challenging Case of Very Low Birth Weight Infant.
Pseudo-Bartter Syndrome in a Pancreatic Insufficient Infant With CFTR, DNAH9, LYST and G6PD Variants.
Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis.
A newborn with type 1 Bartter syndrome: challenges in the treatment and development during 30 months follow-up-a case report.
📚 EuropePMC566 artigos no totalmostrando 200
The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.
International journal of molecular sciencesDescription of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.
Biomedical reportsTransient antenatal Bartter syndrome type 5 presenting as shock and metabolic acidosis in a preterm neonate.
Pediatric nephrology (Berlin, Germany)Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review.
Clinical case reportsAcute Kidney Injury in Children with Polyuria: A Systematic Review.
Journal of clinical medicineHELIX syndrome in childhood. A claudinopathy with a salt-wasting tubulopathy phenotype with hypermagnesemia.
NefrologiaParadoxical Hyperkalemia in Bartter Syndrome: A Case Report of Severe Resistant Hyperkalemia Requiring Hemodialysis.
Case reports in nephrologyComplexities of Bartter Syndrome Type III: A Case Study in Jordan.
Oxford medical case reportsWhen teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.
The Pan African medical journalType 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up.
Frontiers in geneticsMilia-Like Papules and Ulcerated Nodules in a Man With Bartter Syndrome.
Actas dermo-sifiliograficasSuccessful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report.
Clinical nephrology. Case studiesColistin-Induced Bartter-Like Syndrome With Torsades de Pointes: A Reversible Cause of Life-Threatening Arrhythmia.
JACC. Case reportsDiagnostic Value of Exome Sequencing in Isolated Polyhydramnios.
Prenatal diagnosisFailure to thrive in children with tubulopathies.
Pediatric nephrology (Berlin, Germany)A Diagnostic Blind Spot in Pseudo-Bartter Syndrome: Aberrant Renin-angiotensin-aldosterone System Activation from Focal Renal Scarring.
Internal medicine (Tokyo, Japan)Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome.
Nephrology (Carlton, Vic.)Editors' Corner: Unmasking deep intronic variants.
GeneAn Unveiling of the Misdiagnosis of Granulomatosis with Polyangiitis as Acute Sinusitis: A Case Report.
Diagnostics (Basel, Switzerland)Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure.
Clinical case reportsDent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report.
Case reports in nephrology and dialysisCorrigendum to "Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3_UM18-iPSC (HHUUKDi014-A)" [Stem Cell Res. 87 (2025) 103760].
Stem cell researchPharmacovigilance of five commonly used antibiotics in acute exacerbations of COPD (AECOPD): Analysis of the FDA adverse event reporting system database.
Pulmonary pharmacology & therapeuticsAdult-Onset Gitelman Syndrome: Case Analysis and Literature Review.
Case reports in medicinePaternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.
Case reports in geneticsAn interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.
Hormones (Athens, Greece)An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant.
Clinical case reportsProlonged hypokalemia long after causative factor elimination in pseudo-Bartter/Gitelman syndrome.
Clinical and experimental nephrology[A case of extremely premature infant with type Ⅱ Bartter syndrome characterized by hyperkalemia].
Zhonghua er ke za zhi = Chinese journal of pediatricsA case of adult-onset Bartter syndrome with transient paraplegia.
Oxford medical case reportsGenetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy.
Seminars in nephrologyAmnioreduction as a therapeutic strategy for MAGED2 -related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management.
Clinical dysmorphologyCase Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism.
Frontiers in pediatricsCongenital Nephrogenic Diabetes Insipidus Secondary to Antenatal Type IVa Bartter Syndrome.
Sage open pediatricsGeneration of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A).
Stem cell researchCochlear implantation in children with Bartter syndrome: A case report.
Science progressUltra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.
Pediatric nephrology (Berlin, Germany)Novel TRPM3 missense mutation leading to severe hypocalcemia presenting as seizures and complicated by non-sustained ventricular tachycardia: A case report.
Qatar medical journalPhenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
GenesA fatal case of torsemide abuse based on forensic autopsy findings.
Journal of forensic sciencesAntibiotic-induced Bartter-like syndrome: a systematic review.
The Journal of antimicrobial chemotherapyIntronic variants impacting SLC12A1 gene splicing in Bartter syndrome type 1: Characterization of a novel deep intronic variant via Whole-genome sequencing and minigene analysis.
GeneHypercalcemia's Hidden Regulator: Calcium-Sensing Receptor and the Kidney's Secret Weapon.
Journal of the American Society of Nephrology : JASNIntercalated Cell ClC-K2 Channel Contributes to Systemic Cl- Balance and Acid-Base Homeostasis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyRare co-occurrence of severe vitamin A deficiency in an early adolescent girl with Bartter syndrome.
BMJ case reportsFetal umbilical vein thrombosis associated with fetal bartter syndrome: an unusual case report and literature review.
BMC pregnancy and childbirthNovel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
Case reports in geneticsAdult-onset Bartter syndrome type IV B with ACTH secreting pituitary microadenoma.
Jornal brasileiro de nefrologiaBartter syndrome as natural experiment if furosemide (re)opens the ductus arteriosus.
Pediatric researchMAGED2 Enhances Expression and Function of NCC at the Cell Surface via cAMP Signaling Under Hypoxia.
CellsEtiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.
Pediatric nephrology (Berlin, Germany)A Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
CureusAutoimmune Tubulopathies.
Journal of the American Society of Nephrology : JASNEctopic olfactory neuroblastoma is associated with increased frequency of syndrome of inappropriate antidiuretic hormone secretion and reduced disease control: Case series with systematic review and pooled analysis.
International forum of allergy & rhinologyPolymyxin-B induced Bartter-like syndrome: an unusual adverse effect.
Annals of medicine and surgery (2012)Bartter Syndrome With Recurrent Hypokalemic Periodic Paralysis: A Case Report.
CureusA narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Nephrology (Carlton, Vic.)CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
The Journal of clinical endocrinology and metabolismPseudo-Bartter syndrome: A CFTR-related disorder?
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyPersistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.
BMC pediatricsCardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.
Journal of hypertensionClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.
JCI insightClinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.
Clinical laboratoryHidden in Plain Sight-A Rare Presentation of Cystic Fibrosis with Pseudo-Bartter Syndrome.
Indian journal of nephrologyAn Unusual Presentation of Failure to Thrive in a Toddler: Bartter Syndrome.
CureusAn Unusual Case of Myoglobin Cast Nephropathy in a Patient with Bartter Syndrome: A Rare Entity.
The Journal of the Association of Physicians of IndiaGenetic background of neonatal hypokalemia.
Pediatric nephrology (Berlin, Germany)Cyclic Adenosine Monophosphate Signaling in Chronic Kidney Disease: Molecular Targets and Therapeutic Potentials.
International journal of molecular sciencesUntangling the Uncertain Role of Overactivation of the Renin-Angiotensin-Aldosterone System with the Aging Process Based on Sodium Wasting Human Models.
International journal of molecular sciencesSLC12A1 variant c.1684+1 G>A causes Bartter syndrome type 1 by promoting exon 13 skipping.
Nephrology (Carlton, Vic.)Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.
The American journal of case reportsA New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.
Clinical laboratory[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].
Zhonghua yi xue za zhiClinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.
Molecular genetics and metabolism reportsX-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
Genetics in medicine : official journal of the American College of Medical GeneticsManagement of potassium-wasting syndrome in the antepartum, intrapartum and postpartum period.
The Australian & New Zealand journal of obstetrics & gynaecologyParadoxes in magnesium transport in type 1 Bartter's syndrome and Gitelman's syndrome: a modeling analysis.
American journal of physiology. Renal physiology[Two Cases of Pseudo-Bartter Syndrome in Childhood: When to Suspect a Rare Onset Pattern of Cystic Fibrosis].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaPostnatal renal tubule development: roles of tubular flow and flux.
Current opinion in nephrology and hypertensionBartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.
The American journal of case reportsHypokalemia in a young man…think Bartter syndrome type 3.
Annals of medicine and surgery (2012)[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsProtein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation.
CellsAcquired Bartter-like syndrome associated with colistin use in an adult patient: a case report.
CEN case reportsPolymyxin B-induced Bartter syndrome.
BMJ case reportsCoronary artery bypass surgery in a patient with Bartter's syndrome - postoperative critical care management: a case report.
Indian journal of thoracic and cardiovascular surgeryReview of childhood genetic nephrolithiasis and nephrocalcinosis.
Frontiers in geneticsRenal artery embolization in an adult patient with Bartter syndrome: a difficult but life-saving decision.
Polish archives of internal medicineAdult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Endocrine journalAUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.
CellsBartter syndrome in a female infant: A rare case report from Syria.
SAGE open medical case reportsBartter syndrome-like phenotype in a patient with type 2 diabetes mellitus.
BMJ case reportsA case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease.
CEN case reportsPseudo-Bartter syndrome as the initial presentation of cystic fibrosis in children: an important diagnosis not to be missed.
BMJ case reportsIdentification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
BMC medical genomicsIV Colistin: A Rare Cause of Bartter-Like Syndrome in Adults.
CureusKnowing the meaning of the words we use: Gitelman's syndrome or Gitelman's disease?
NefrologiaSuccessful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.
Prenatal diagnosisClinical analysis of salt-wasting in infants due to genetic aetiology.
Endokrynologia PolskaPseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria.
Electrolyte & blood pressure : E & BPIsolated polyhydramnios: Is a genetic evaluation of value?
European journal of obstetrics, gynecology, and reproductive biologyBartter Syndrome Unveiled: Unraveling the Masquerade of Neuroregression.
Indian journal of pediatricsLong-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance.
The American journal of case reportsExpanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.
International journal of molecular sciencesRecurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome.
Nephrology (Carlton, Vic.)Pseudo-Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report.
Clinical case reportsMitochondrial Dysfunction in Kidney Tubulopathies.
Annual review of physiologyTubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives.
Seminars in nephrologyGenome mining yields putative disease-associated ROMK variants with distinct defects.
PLoS geneticsBartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II.
JCEM case reportsEpithelial Transport in Disease: An Overview of Pathophysiology and Treatment.
CellsUncommon Presentation of Cystic Fibrosis: A Case Report and Literature Review.
CureusGitelman Syndrome and Hypertension: A Case Report.
CureusClinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis.
Alternative therapies in health and medicineBilateral cochlear implantation in infantile Bartter's syndrome.
BMJ case reportsBartter Syndrome: A Systematic Review of Case Reports and Case Series.
Medicina (Kaunas, Lithuania)A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report.
Indian journal of clinical biochemistry : IJCBOcular manifestations of the genetic renal tubulopathies.
Ophthalmic geneticsPattern of hereditary renal tubular disorders in Egyptian children.
The Turkish journal of pediatricsLong-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Genome medicineA novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.
Birth defects researchTwo Brothers from Macedonia with Gitelman Syndrome.
Balkan journal of medical genetics : BJMGGenotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
Scientific reportsClinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Archives of medical researchClinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis.
Pediatric pulmonologyPseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyCorrigendum: Long-term outcome of Bartter syndrome in 54 patients: a multicenter study in Korea.
Frontiers in medicineA Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female.
CureusResearch progress on renal calculus associate with inborn error of metabolism.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesGenome mining yields new disease-associated ROMK variants with distinct defects.
bioRxiv : the preprint server for biologySmall Molecules Targeting Kidney ClC-K Chloride Channels: Applications in Rare Tubulopathies and Common Cardiovascular Diseases.
BiomoleculesA mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report.
Frontiers in pediatrics[Regulation of kidney on potassium balance and its clinical significance].
Sheng li xue bao : [Acta physiologica Sinica]A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report.
CureusBartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report.
Frontiers in pediatricsLong-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea.
Frontiers in medicine[Chinese experts consensus statement: diagnosis and treatment of cystic fibrosis (2023)].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesMachine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Kidney international reportsBartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
NephronPersistent Flaccid Paralysis in a Patient with Bartter Syndrome.
Klinische PadiatrieCase Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant.
Frontiers in pediatricsClC-K Kidney Chloride Channels: From Structure to Pathology.
Handbook of experimental pharmacologyUnexplained severe polyhydramnios: Remember Bartter syndrome.
European journal of obstetrics, gynecology, and reproductive biologyCardiac Arrest as the First Presentation of Gitelman Syndrome.
CureusHNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia.
BMJ case reportsAn Unusual Case of BSND Gene-Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Bartter Syndrome: Perspectives of a Pediatric Nephrologist.
Electrolyte & blood pressure : E & BPModus operandi of ClC-K2 Cl- Channel in the Collecting Duct Intercalated Cells.
BiomoleculesSalt-losing tubulopathy worsening the prognosis of renal sarcoidosis.
Journal of nephrologyPathophysiologic approach in genetic hypokalemia: An update.
Annales d'endocrinologieGenetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation.
Clinical case reportsHyponatremia and stroke mimic: a case report.
The Pan African medical journalDiacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2.
International journal of molecular sciencesReciprocal Regulation of MAGED2 and HIF-1α Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II.
CellsPseudo Bartter Syndrome in anorexia nervosa.
Eating and weight disorders : EWDClinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.
Turkish archives of pediatricsPhenotypic and genotypic characteristics of children with Bartter syndrome.
The Turkish journal of pediatricsHypercalcemia-induced hypokalemic metabolic alkalosis with hypophosphatemia in a multiple myeloma patient: lessons for the clinical nephrologist.
Journal of nephrologyMonogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.
La Tunisie medicaleBartter and Gitelman syndromes.
Casopis lekaru ceskychTwelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay.
Frontiers in geneticsYoung Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues.
Advances in chronic kidney diseaseAcute Kidney Injury with Severe Metabolic Alkalosis Caused by Habitual Vomiting in an Alcohol Abuser with Pyloric Stenosis.
Internal medicine (Tokyo, Japan)Angiotensin II, RAS Activation, and RAS Blockers in COVID-19: Unambiguous Evidence.
Kidney & blood pressure researchSevere Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieMAGED2 Is Required under Hypoxia for cAMP Signaling by Inhibiting MDM2-Dependent Endocytosis of G-Alpha-S.
CellsGenetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.
Journal of nephrologyLate onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism.
Journal of pediatric endocrinology & metabolism : JPEMMagnesium is crucial in renal-cardiovascular fibrosis but the Gitelman's syndrome paradox still awaits resolution.
International urology and nephrologyA novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.
Molecular genetics & genomic medicineThe genetic spectrum of Gitelman(-like) syndromes.
Current opinion in nephrology and hypertension[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsGitelman's and Bartter's Syndromes: From Genetics to the Molecular Basis of Hypertension and More.
Kidney & blood pressure researchBalancing Benefits and Risks of Indomethacin in the Management of Antenatal Bartter Syndrome: A Case Report.
Frontiers in medicineDiagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.
The American journal of case reportsBartter syndrome with multiple renal and liver cysts: a case report.
International urology and nephrologyA novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.
BMC nephrologyChronic cough in an adolescent with infantile onset of hypokalemic hypochloremic metabolic alkalosis: Answers.
Pediatric nephrology (Berlin, Germany)Chronic cough in an adolescent with infantile onset of hypokalemic hypochloremic metabolic alkalosis: Questions.
Pediatric nephrology (Berlin, Germany)Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance.
Frontiers in pediatricsClinical Course of Patients with Bartter Syndrome.
Iranian journal of kidney diseasesThe Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
Journal of the Endocrine SocietyClinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
International journal of molecular sciencesBartter-like Syndrome Induced By Tacrolimus in a Renal Transplanted Boy: A Case Report.
Current drug safetyA difficult case of hyponatremic and hypokalemic metabolic alkalosis: Questions.
Pediatric nephrology (Berlin, Germany)A difficult case of hyponatremic and hypokalemic metabolic alkalosis: Answers.
Pediatric nephrology (Berlin, Germany)Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
BMC nephrologyNephrogenic Systemic Fibrosis with Osseous Metaplasia in a Kidney-Pancreas Transplant Patient.
SkinmedMetabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.
American journal of kidney diseases : the official journal of the National Kidney FoundationLate-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Frontiers in medicineGenetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis.
Clinical kidney journalNovel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.
Clinica chimica acta; international journal of clinical chemistryNeonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.
Journal of paediatrics and child healthClinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis.
CEN case reportsA new missense mutation of calcium sensing receptor with isoleucine replaced by serine at codon 857 leading to type V Bartter syndrome.
Experimental cell researchThe counter-regulatory arm of the renin-angiotensin system and COVID-19: insights from Gitelman's and Bartter's syndromes.
Journal of hypertensionDifferent roles of the RAAS affect bone metabolism in patients with primary aldosteronism, Gitelman syndrome and Bartter syndrome.
BMC endocrine disordersParathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationComparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia.
Frontiers in pediatricsThe success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.
Pediatric pulmonologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.
- Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.
- Transient antenatal Bartter syndrome type 5 presenting as shock and metabolic acidosis in a preterm neonate.
- Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review.
- Acute Kidney Injury in Children with Polyuria: A Systematic Review.
- Adult-Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report.
- Antenatal Bartter Syndrome Type 4a: Ibuprofen Treatment for a Challenging Case of Very Low Birth Weight Infant.
- Pseudo-Bartter Syndrome in a Pancreatic Insufficient Infant With CFTR, DNAH9, LYST and G6PD Variants.
- Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis.
- A newborn with type 1 Bartter syndrome: challenges in the treatment and development during 30 months follow-up-a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:112(Orphanet)
- MONDO:0015231(MONDO)
- GARD:5893(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q790971(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
