A Síndrome de Bartter Clássica é um tipo de Síndrome de Bartter. Ela apresenta sintomas mais leves do que a forma que se manifesta antes ou logo após o nascimento. Os sinais incluem dificuldade para crescer e ganhar peso, um desequilíbrio em que o sangue fica muito alcalino (básico) e com pouco potássio, níveis aumentados dos hormônios renina e aldosterona no sangue, pressão baixa e os vasos sanguíneos respondem mal ao hormônio angiotensina II.
Introdução
O que você precisa saber de cara
A Síndrome de Bartter Clássica é um tipo de Síndrome de Bartter. Ela apresenta sintomas mais leves do que a forma que se manifesta antes ou logo após o nascimento. Os sinais incluem dificuldade para crescer e ganhar peso, um desequilíbrio em que o sangue fica muito alcalino (básico) e com pouco potássio, níveis aumentados dos hormônios renina e aldosterona no sangue, pressão baixa e os vasos sanguíneos respondem mal ao hormônio 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
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
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.
Variantes genéticas (ClinVar)
141 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 140 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 tipo 3
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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
Publicações mais relevantes
Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A).
SIX2-positive urine-derived renal progenitor cells (UdRPCs) were isolated from an 18-year-old Bartter syndrome type 3 (BS3) patient within a homozygous CLCNKB gene deletion. Two episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28 we were able to generate an integration-free induced pluripotent stem cell line (iPSC). Pluripotency was confirmed by fluorescence-activated cell sorting analysis and immunocytochemistry for the markers-OCT4, SOX2, NANOG, TRA-1-60, TRA-1-81 and SSEA4. Embryoid body-based differentiation into the three germ layers was the conducted and confirmed by immunocytochemistry. Pluritest analysis revealed a Pearson correlation of 0,93. Short tandem repeat DNA fingerprinting and karyotype analyses were performed.
Corrigendum 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].
An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant.
This case highlights an unusual presentation of Bartter Syndrome Type 3 marked by hypocalciuria and opisthotonus posture. Recognizing such atypical neuromuscular signs is essential for early diagnosis, genetic confirmation, and targeted management in pediatric patients with electrolyte imbalances.
A Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases. Here, we discuss the case of a 52-year-old male patient who presented with complaints of multiple episodes of vomiting and mental obtundation. On further evaluation, he was found to have salt-losing tubulopathy, hypokalemia, and metabolic alkalosis. In the absence of genetic studies, the diagnosis of Bartter syndrome poses a diagnostic challenge in clinical practice.
A New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.
Type III Bartter syndrome (BS) is an autosomal recessive renal tubular disease caused by the mutation of the chloride voltage-gated channel Kb (CLCNKB) gene. This condition is characterized by renal sodium loss, hypokalemia, metabolic alkaliosis, high renin, and high aldosterone levels. We report a case of adult type III BS caused by a novel complex heterozygous mutation of the CLCNKB gene. The peripheral blood was extracted for whole genome DNA extraction, and the genome exon region of BS- related genes, was predicted by high-throughput sequencing and protein function prediction software. The selected mutation sites were verified by sequencing with Sanger method. The new complex heterozygous mutations of CLCNKB include heterozygous deletion of exon 2 - 20 of CLCNKB and nonsense mutation of exon 19, c.2010G>A (p.W670X). This complex heterozygous mutation has not been reported in humans. For patients with high clinical suspicion of BS, a clear diagnosis should be made through genetic test-ing to improve patients' quality of life and provide genetic guidance.
Publicações recentes
Corrigendum 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].
An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant.
Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A).
A Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.
📚 EuropePMC566 artigos no totalmostrando 37
Corrigendum 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 researchAn Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant.
Clinical case reportsGeneration of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A).
Stem cell researchA Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
CureusA New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.
Clinical laboratoryClinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.
Molecular genetics and metabolism reportsHypokalemia in a young man…think Bartter syndrome type 3.
Annals of medicine and surgery (2012)Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Endocrine journalLong-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 researchModus operandi of ClC-K2 Cl- Channel in the Collecting Duct Intercalated Cells.
BiomoleculesA novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.
Molecular genetics & genomic medicineSimultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree.
GenesTwo novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.
BMJ case reportsCo-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Hormone research in paediatricsThirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.
EndocrineInherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Pediatrics international : official journal of the Japan Pediatric SocietyBartter syndrome type III with only a synonymous mutation of the CLCNKB gene .
Clinical nephrologyA novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.
BMC medical geneticsClassic Bartter Syndrome: A Cause of Severe Hypokalemic Metabolic Alkalosis.
Clinical pediatricsA novel mutation associated with Type III Bartter syndrome: A report of five cases.
Molecular medicine reportsBartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen.
Frontiers in pediatrics[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaAntenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.
BMJ case reportsIn silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.
Scientific reportsPaving the way for Bartter syndrome type 3 drug discovery: a hope from basic research.
The Journal of physiologyClinical and Genetic Spectrum of Bartter Syndrome Type 3.
Journal of the American Society of Nephrology : JASNPoor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
PloS oneNew perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule.
American journal of physiology. Renal physiologyUnusual case of failure to thrive: Type III Bartter syndrome.
Journal of Nepal Health Research CouncilWhole Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyWhole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyDifferential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.
Genetics in medicine : official journal of the American College of Medical GeneticsClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
American journal of physiology. Renal physiologyAssociações
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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.
- Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A).
- Corrigendum 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].
- An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant.
- A Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
- A New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.
- Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93605(Orphanet)
- OMIM OMIM:607364(OMIM)
- MONDO:0011822(MONDO)
- GARD:9659(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q27674849(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
