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Síndrome Gitelman
ORPHA:358CID-10 · N15.8CID-11 · 5C64.41OMIM 263800DOENÇA RARA

A síndrome de Gitelman (GS), também conhecida como hipocalemia-hipomagnesemia familiar, é caracterizada por alcalose metabólica hipocalêmica em combinação com hipomagnesemia significativa e baixa excreção urinária de cálcio.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Gitelman (GS), também conhecida como hipocalemia-hipomagnesemia familiar, é caracterizada por alcalose metabólica hipocalêmica em combinação com hipomagnesemia significativa e baixa excreção urinária de cálcio.

Pesquisas ativas
2 ensaios
7 total registrados no ClinicalTrials.gov
Publicações científicas
651 artigos
Último publicado: 2026 Apr 16

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
2.5
Europe
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: N15.8
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫘
Rins
9 sintomas
📏
Crescimento
9 sintomas
🧠
Neurológico
7 sintomas
🫃
Digestivo
6 sintomas
💪
Músculos
5 sintomas
❤️
Coração
3 sintomas

+ 40 sintomas em outras categorias

Características mais comuns

90%prev.
Hipocalemia
Muito frequente (99-80%)
55%prev.
Fraqueza muscular
Frequente (79-30%)
55%prev.
Intervalo QT prolongado
Frequente (79-30%)
55%prev.
Hipomagnesemia
Frequente (79-30%)
55%prev.
Pressão arterial baixa a normal
Frequente (79-30%)
17%prev.
Náusea e vômito
Ocasional (29-5%)
85sintomas
Muito frequente (1)
Frequente (4)
Ocasional (14)
Muito raro (51)
Sem dados (15)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 85 características clínicas mais associadas, ordenadas por frequência.

HipocalemiaHypokalemia
Muito frequente (99-80%)90%
Fraqueza muscularMuscle weakness
Frequente (79-30%)55%
Intervalo QT prolongadoProlonged QT interval
Frequente (79-30%)55%
HipomagnesemiaHypomagnesemia
Frequente (79-30%)55%
Pressão arterial baixa a normalLow-to-normal blood pressure
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico651PubMed
Últimos 10 anos200publicações
Pico202348 papers
Linha do tempo
2026Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

SLC12A3Solute carrier family 12 member 3Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:18270262, PubMed:21613606, PubMed:22009145, PubMed:36351028, PubMed:36792826). Also acts as a receptor for the pro-inflammatory cytokine IL18, thereby contributing to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2 (By similarity). May act either independently of IL18R1, or in a complex with IL18R1 (By similarity)

LOCALIZAÇÃO

Cell membraneApical cell membrane

VIAS BIOLÓGICAS (1)
Cation-coupled Chloride cotransporters
MECANISMO DE DOENÇA

Gitelman syndrome

An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Córtex
67.7 TPM
Rim - Medula
24.9 TPM
Baço
0.8 TPM
Linfócitos
0.3 TPM
Intestino delgado
0.2 TPM
OUTRAS DOENÇAS (1)
Gitelman syndrome
HGNC:10912UniProt:P55017
CLCNKBChloride channel protein ClC-KbDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Basolateral cell membrane

VIAS BIOLÓGICAS (1)
Stimuli-sensing channels
MECANISMO DE DOENÇA

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.

VIAS REACTOME (1)
OUTRAS DOENÇAS (4)
Bartter disease type 4BBartter disease type 3Bartter syndrome type 4Gitelman syndrome
HGNC:2027UniProt:P51801

Variantes genéticas (ClinVar)

701 variantes patogênicas registradas no ClinVar.

🧬 SLC12A3: NM_001126108.2(SLC12A3):c.[1644C>G;1928C>T] ()
🧬 SLC12A3: NM_001126108.2(SLC12A3):c.1423T>G (p.Ser475Ala) ()
🧬 SLC12A3: NM_001126108.2(SLC12A3):c.1313A>G (p.Tyr438Cys) ()
🧬 SLC12A3: NM_001126108.2(SLC12A3):c.898T>C (p.Tyr300His) ()
🧬 SLC12A3: NM_001126108.2(SLC12A3):c.605G>A (p.Gly202Asp) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
2Fase 21
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 7 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Gitelman

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Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

7 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
421 papers (10 anos)
#1

Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?

Frontiers in pediatrics2026

Gitelman syndrome (GS) presents with a broad range of clinical manifestations. Although uncommon, seizures secondary to severe metabolic alkalosis or hypomagnesemia have been documented. A concurrent diagnosis of epilepsy in patients with GS is even rarer. We report the case of a 12-year-old boy whose chief complaint was recurrent convulsions. Initial laboratory evaluation revealed normal serum magnesium levels, which subsequently decreased during follow-up. Persistent hypokalemia, hyperaldosteronism, and hypomagnesemia in subsequent disease course, as well as mutations of the SLC12A3 gene, confirmed the diagnosis of GS. Based on long-term monitoring of seizure episodes, electroencephalogram findings, and the electrolyte levels during an epileptic seizure, a diagnosis of epilepsy was established. His seizures were well controlled with levetiracetam. We report a case of GS presenting with convulsions as the chief complaint. The etiology of epilepsy in this case remains unclear and may represent either a causal association or a coincidental comorbidity with GS. The mechanism of the atypical dynamics of serum magnesium levels in this patient-normal levels initially followed by a subsequent decrease-warrants further investigation.

#2

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.

Clinical case reports2026 Mar

Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27-year-old woman presented with a witnessed syncopal episode, progressive weakness, and nausea. She reported a 3-year history of muscle cramps, paresthesias, salt craving, and nocturia, with only transient correction of hypokalemia despite supplementation. Examination showed orthostatic hypotension and proximal muscle weakness, and ECG revealed flattened T and prominent U waves. Laboratory tests demonstrated severe hypokalemia (2.7 mmol/L), metabolic alkalosis, hypomagnesemia, renal potassium wasting, hypocalciuria, elevated renin and aldosterone, and a negative diuretic screen, consistent with GS. Severe hypokalemia is arrhythmogenic; ECG changes and syncope in this patient prompted monitored cardiac care and urgent correction. She was treated with intravenous and oral potassium and magnesium plus amiloride, leading to symptomatic improvement but persistently low-normal potassium levels (3.3-3.7 mmol/L). Genetic testing confirmed a pathogenic SLC12A3 variant. This case underscores the importance of considering GS in young adults with unexplained hypokalemia and the difficulty of achieving full biochemical correction despite optimal therapy.

#3

Unmasking of a Heterozygous SLC12A3 Variant.

Kidney medicine2026 Mar

Three months after starting 25 mg chlorthalidone, a patient was admitted to the medical intensive care unit to manage hypokalemia, metabolic alkalosis, hypo-osmolar hyponatremia, hyperglycemia, and 30 lb weight loss. The patient received ∼936 mEq potassium over 8 days, of which 456 mEq was administered during the first 2 days of admission. In the first 24 hours, the individual received intravenous fluids that delivered 406 mEq sodium chloride. By day 2, serum potassium level increased from 2.5 to 3.0 mEq/L, bicarbonate fell from 40 to 35 mEq/L, serum sodium improved from 121 to 134 mEq/L, and serum glucose levels improved from the 400s to the 200s (mg/dL). On day 4, serum chemistries normalized. Twenty-four hours after admission, serum aldosterone level and renin activity were unremarkable, and brain natriuretic peptide concentration was <10 pg/mL. The primary therapeutic interventions were potassium chloride replacement, modest sodium chloride replacement, and subcutaneous insulin administration. Natera Renasight genetic testing identified a pathologic missense variant (p.Glu121Asp) in a single allele of the thiazide-sensitive Na+/Cl- cotransporter, solute carrier family 12 member 3 (SLC12A3). We speculate that chlorthalidone unmasked a Gitelman syndrome-like phenotype in a patient with a single functional SLC12A3 allele. Moreover, this case informs us of the interrelationships of total body potassium depletion and glucose metabolism and systemic blood pressure.

#4

Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.

Current issues in molecular biology2026 Jan 28

Gitelman syndrome (GS) is a rare, autosomal recessive salt-losing tubulopathy caused by mutations in the SLC12A3 gene. It involves dysfunction of the sodium-chloride cotransporter positioned on the apical membranes of the distal convoluted tubule cells, causing sodium shortage and mimicking the use of thiazide diuretics. Hyperaldosteronism secondary to sodium depletion and hypovolemia causes hypokalaemia and metabolic alkalosis. This is associated with inhibition of the Transient Receptor Potential Cation Channel, Subfamily M, Member 6 -TRPM6 channel, which leads to urinary magnesium leakage and hypomagnesemia, subsequently stopping PTH secretion and resulting in hypocalcemia and hypocalciuria. Gitelman syndrome frequently presents later in life, as the symptoms are usually not very threatening. However, early identification, diagnosis, and urgent intervention are essential to improve patient prognosis and quality of life. Importantly, both hypomagnesemia and hypokalaemia can impair insulin secretion and sensitivity. Furthermore, hyperaldosteronism caused by the secondary activation of the R-A-A system can also lead to these disorders. Glucose metabolism problems have been shown to prevail amongst GS patients and manifest more frequently in comparison to the general population. When it comes to the treatment used to reduce hyperglycemia in GS-related T2DM, we consider which of the available drugs are the best for those patients. The article analyses the association of Gitelman syndrome with diabetes mellitus based on the available medical literature-as there are no clinical trials or meta-analyses available for this group, it is presented as a narrative review.

#5

Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.

Cureus2026 Jan

Gitelman syndrome (GS) is an autosomal recessive salt-wasting tubulopathy caused by pathogenic variants in SLC12A3, characterized by renal potassium wasting, hypokalemic metabolic alkalosis, hypomagnesemia, and typically low urinary calcium excretion. We report the case of a 47-year-old woman with recurrent hypokalemia and episodes of asthenia, myalgias, and generalized muscle weakness. She denied gastrointestinal losses and diuretic or laxative use, and examination showed normal blood pressure. Electrocardiography revealed sinus rhythm without QT prolongation, and renal ultrasonography showed no structural abnormalities or nephrocalcinosis. Laboratory evaluation confirmed mild hypokalemia with metabolic alkalosis, preserved renal function, and hypomagnesemia. Urinary studies demonstrated renal potassium wasting with increased magnesium excretion and low urinary calcium excretion. Targeted next-generation sequencing identified two heterozygous SLC12A3 missense variants of uncertain significance (VUS) (NM_000339.3:c.505G>A, p.Val169Ile; NM_000339.3:c.1452C>G, p.Cys484Trp), and segregation analysis confirmed an in-trans configuration consistent with compound heterozygosity, supporting the diagnosis in the context of a classic biochemical phenotype. She was managed with oral potassium chloride supplementation. Spironolactone was discontinued due to symptomatic hypotension, and she remains clinically stable on follow-up. This case emphasizes the value of integrating biochemical findings with segregation analysis when only VUS are identified and highlights the need for individualized long-term management and genetic counseling in GS.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC445 artigos no totalmostrando 197

2026

Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?

Frontiers in pediatrics
2026

Clinical and genetic features in 30 children with Gitelman syndrome.

BMC nephrology
2026

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.

Clinical case reports
2026

Unmasking of a Heterozygous SLC12A3 Variant.

Kidney medicine
2026

Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.

Current issues in molecular biology
2026

Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.

Cureus
2026

Semicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging.

Diagnostic and interventional radiology (Ankara, Turkey)
2026

Revisiting the diagnosis: HNF1β mutation masquerading as Gitelman syndrome.

CEN case reports
2026

Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review.

Clinical case reports
2026

CRISPR/Cas9-based SLC12A3 gene knock in: a model for cellular feature analysis in Gitelman syndrome.

Kidney research and clinical practice
2025

Gitelman syndrome in a pediatric patient: a case report and literature review.

Frontiers in pediatrics
2025

Complexities of Bartter Syndrome Type III: A Case Study in Jordan.

Oxford medical case reports
2025

Refractory hypercalcemic crisis: A case of primary hyperparathyroidism with Gitelman syndrome.

The Journal of international medical research
2025

Clinical and genetic features of Gitelman syndrome patients with hyperuricemia.

Clinical kidney journal
2025

[Acquired Gitelman syndrome and suspected pseudogouty arthritis in a patient with primary Sjögren's syndrome].

Zhonghua nei ke za zhi
2025

Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.

Kidney international reports
2025

The osteoarticular features of Gitelman Syndrome: Chondrocalcinosis and more.

Seminars in arthritis and rheumatism
2025

The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa-let-7d-3p.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.

Human genomics
2025

Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.

Nephrology (Carlton, Vic.)
2025

Pregnancy complicated with Gitelman syndrome: A case report and literature review.

Medicine
2025

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.

Frontiers in genetics
2025

Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series.

Cureus
2025

Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review.

Case reports in medicine
2025

First case report in China of Gitelman syndrome associated with ileocecal polyps in a child: a case report.

BMC pediatrics
2025

Prolonged hypokalemia long after causative factor elimination in pseudo-Bartter/Gitelman syndrome.

Clinical and experimental nephrology
2025

Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data.

Kidney international reports
2025

A Case of Gitelman Syndrome Complicated by Growth Hormone Deficiency.

Clinical laboratory
2025

Transport and thiazide-inhibition mechanisms of the Na-Cl cotransporter: a structural perspective.

Current opinion in nephrology and hypertension
2025

Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.

SAGE open medical case reports
2025

Gitelman syndrome: diagnostic challenges and therapeutic strategies.

Clinica chimica acta; international journal of clinical chemistry
2025

Dual Diagnostic Dilemma: Gitelman Syndrome and Incidental Neuroendocrine Tumor in a Young Adult With Refractory Hypokalemia.

Cureus
2025

Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.

Case reports in medicine
2025

Novel TRPM3 missense mutation leading to severe hypocalcemia presenting as seizures and complicated by non-sustained ventricular tachycardia: A case report.

Qatar medical journal
2025

Gitelman Syndrome in the Sixth Decade: An Atypical Presentation with Severe Electrolyte Abnormalities and Genetic Heterogeneity.

Annals of African medicine
2025

Gitelman syndrome with hypercalcemia and normomagnesemia: A case report.

Medicine
2025

Gitelman Syndrome in a Toddler With Normal Blood Test Findings Except on Sick Days.

Nephrology (Carlton, Vic.)
2025

Decoding Gitelman syndrome in a structurally normal heart with polymorphic ventricular tachycardia: A case report.

HeartRhythm case reports
2025

Hypomagnesemia induces impaired glucose metabolism and insulin resistance in patients with Gitelman syndrome.

Diabetes research and clinical practice
2025

The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.

BMC nephrology
2025

Rare Case of Adult-Onset Gitelman Syndrome in a Patient With Multiple Comorbidities: A Case Report.

Clinical case reports
2025

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.

Frontiers in endocrinology
2025

Recurrent falls as the presentations of Gitelman syndrome in an octogenarian.

Aging
2025

Gitelman syndrome presenting with lower limb paralysis: a case report.

Journal of medical case reports
2025

Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.

Orphanet journal of rare diseases
2024

An early onset Gitelman syndrome presenting in a boy with failure to thrive with recurrent hypokalemia and hypomagnesemia: a case report.

The Pan African medical journal
2025

Gitelman syndrome with diabetes and kidney stones: A case report.

Medicine
2025

Autoimmune Tubulopathies.

Journal of the American Society of Nephrology : JASN
2024

Gitelman syndrome patient managed with amiloride during pregnancy and lactation.

BMC nephrology
2024

Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.

The American journal of case reports
2025

Cardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.

Journal of hypertension
2025

Hereditary salt-wasting tubulopathy associated with SLC12A3 mutation: Description of a case of Gitelman Syndrome.

Medicina clinica
2024

Clinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.

Clinical laboratory
2024

Hypokalemia Induced Partial Nephrogenic Diabetes Insipidus: A Case Report.

JNMA; journal of the Nepal Medical Association
2024

Herlyn Werner Wunderlich Syndrome with Hydrocolpos: A Case Report.

JNMA; journal of the Nepal Medical Association
2024

Untangling 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 sciences
2024

Prevalence of kidney failure in adults diagnosed with hereditary tubulopathies.

Journal of nephrology
2024

Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.

The American journal of case reports
2024

Gitelman syndrome with primary hyperparathyroidism: A case report.

Medicine
2025

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

Clinica chimica acta; international journal of clinical chemistry
2024

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review.

Frontiers in genetics
2025

Management of potassium-wasting syndrome in the antepartum, intrapartum and postpartum period.

The Australian &amp; New Zealand journal of obstetrics &amp; gynaecology
2024

Paradoxes in magnesium transport in type 1 Bartter's syndrome and Gitelman's syndrome: a modeling analysis.

American journal of physiology. Renal physiology
2024

Pathophysiological role of Na-Cl cotransporter in kidneys, blood pressure, and metabolism.

Human cell
2024

Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease: Triad of rare diseases: A case report.

SAGE open medical case reports
2024

First Diagnosis of Gitelman Syndrome During Pregnancy in an Adolescent Female: A Case Report.

Cureus
2024

Chemotherapy-induced tubulopathy: a case report series.

Frontiers in nephrology
2024

Gitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology.

CEN case reports
2024

Clinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report.

Medicine
2024

Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.

Endocrine journal
2024

Genotype-phenotype correlations in children with Gitelman syndrome.

Clinical and experimental nephrology
2024

[Genetic analysis of two patients with Gitelman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.

Frontiers in endocrinology
2024

Navigating the multifaceted intricacies of the Na+-Cl- cotransporter, a highly regulated key effector in the control of hydromineral homeostasis.

Physiological reviews
2024

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

CEN case reports
2024

A case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease.

CEN case reports
2024

Kinase Scaffold Cab39 Is Necessary for Phospho-Activation of the Thiazide-Sensitive NCC.

Hypertension (Dallas, Tex. : 1979)
2024

Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B.

Nephrology (Carlton, Vic.)
2023

Knowing the meaning of the words we use: Gitelman's syndrome or Gitelman's disease?

Nefrologia
2023

Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria.

Electrolyte &amp; blood pressure : E &amp; BP
2023

An unusual complication secondary to kanamycin use in a patient of multidrug-resistant pulmonary tuberculosis.

Medical journal, Armed Forces India
2023

Gitelman syndrome combined with diabetes mellitus: A case report and literature review.

Medicine
2023

Long-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 reports
2023

A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.

Acta epileptologica
2024

Mitochondrial Dysfunction in Kidney Tubulopathies.

Annual review of physiology
2023

[Clinical and genetic analysis of a case of Gitelman syndrome with comorbid Graves disease and adrenocortical adenoma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Gitelman Syndrome Manifesting With Acute Hypokalemic Paralysis: A Case Report.

Cureus
2023

Gitelman Syndrome and Hypertension: A Case Report.

Cureus
2023

Heart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.

Cureus
2023

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Clinical genetics
2023

Ocular manifestations of the genetic renal tubulopathies.

Ophthalmic genetics
2023

Pattern of hereditary renal tubular disorders in Egyptian children.

The Turkish journal of pediatrics
2023

Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.

Medicine
2024

Gitelman syndrome and type 1 diabetes mellitus: An uncommon association.

Medicina clinica
2023

Two Brothers from Macedonia with Gitelman Syndrome.

Balkan journal of medical genetics : BJMG
2023

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Orphanet journal of rare diseases
2023

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.

Scientific reports
2023

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report.

Frontiers in genetics
2023

Pseudo-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 Endocrinology
2023

Molecular complexity analysis of the diagnosis of Gitelman syndrome in China.

Open life sciences
2023

Spectrum of Disorders associated with Tetany.

The Journal of the Association of Physicians of India
2023

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.

Frontiers in pediatrics
2023

Diabetic ketoacidosis in a patient known with Gitelman syndrome.

JRSM open
2023

Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.

Medicine
2023

Gitelman Syndrome: A Case Report.

Cureus
2023

Gitelman Syndrome Presenting with Cerebellar Ataxia and Tetany.

Indian journal of nephrology
2023

Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.

International journal of general medicine
2023

Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.

BMC nephrology
2023

[Regulation of kidney on potassium balance and its clinical significance].

Sheng li xue bao : [Acta physiologica Sinica]
2023

A case report of Gitelman syndrome in children.

Medicine
2023

A triple SLC12A3 heterozygous mutations in Gitelman syndrome with renal calculi.

Hippokratia
2023

A case of advanced breast cancer with Gitelman syndrome.

International cancer conference journal
2023

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Nephron
2023

Advanced chronic kidney disease with life-threatening hypokalemia due to undiagnosed Gitelman syndrome.

Clinical nephrology. Case studies
2023

Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.

Nephron
2023

Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter.

Nature
2023

Cardiac Arrest as the First Presentation of Gitelman Syndrome.

Cureus
2023

Total colectomy for poorly controlled hypokalaemia due to Gitelman syndrome.

BMJ case reports
2022

Difficulties in the management of hypokalemia in a pregnant patient with Gitelman syndrome.

Ginekologia polska
2023

Gitelman syndrome presenting with primary nocturnal enuresis: Causation or coincidence?

Pediatrics and neonatology
2023

Pathophysiologic approach in genetic hypokalemia: An update.

Annales d'endocrinologie
2023

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.

Molecular genetics &amp; genomic medicine
2023

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.

Clinical endocrinology
2023

Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review.

Case reports in perinatal medicine
2022

Gitelman syndrome - A new mutation in the SLC12A3 gene.

Nefrologia
2022

Recurrent Episodes of Hypokalaemia during Treatment with Inhaled Beta-2 Agonist Revealing Gitelman Syndrome, an Uncommon Clinical Entity.

European journal of case reports in internal medicine
2022

R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.

Frontiers of medicine
2022

Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.

Turkish archives of pediatrics
2023

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Journal of the American Society of Nephrology : JASN
2022

METFORMIN-AND GLICLAZIDE-BASED DIABETES TREATMENT EXPERIENCE IN A PATIENT WITH GITELMAN SYNDROME.

Acta endocrinologica (Bucharest, Romania : 2005)
2023

Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview.

Clinical rheumatology
2022

Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.

World journal of clinical cases
2022

Using human urinary extracellular vesicles to study physiological and pathophysiological states and regulation of the sodium chloride cotransporter.

Frontiers in endocrinology
2022

Bartter and Gitelman syndromes.

Casopis lekaru ceskych
2023

Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.

Journal of nephrology
2022

The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management.

Reviews in cardiovascular medicine
2023

Magnesium is crucial in renal-cardiovascular fibrosis but the Gitelman's syndrome paradox still awaits resolution.

International urology and nephrology
2022

Anesthetic Considerations for Cesarean Delivery in a Parturient With Severe Gitelman Syndrome.

Cureus
2022

The genetic spectrum of Gitelman(-like) syndromes.

Current opinion in nephrology and hypertension
2022

A case of Gitelman syndrome with membranous nephropathy.

BMC nephrology
2022

Multiple molecular mechanisms are involved in the activation of the kidney sodium-chloride cotransporter by hypokalemia.

Kidney international
2022

Gitelman's and Bartter's Syndromes: From Genetics to the Molecular Basis of Hypertension and More.

Kidney &amp; blood pressure research
2022

Concurrent Gitelman Syndrome-like Tubulopathy and Grave's Disease.

Indian journal of nephrology
2022

Potassium and Magnesium in Breast Milk of a Woman With Gitelman Syndrome.

Kidney international reports
2022

A Case of Gitelman Syndrome with Hypercalcemia Secondary to Primary Hyperparathyroidism.

Case reports in endocrinology
2022

Detecting pathogenic deep intronic variants in Gitelman syndrome.

American journal of medical genetics. Part A
2022

Na-Cl Co-transporter (NCC) gene inactivation is associated with improved bone microstructure.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2022

A novel mutation of SLC12A3 gene causing Gitelman syndrome.

SAGE open medical case reports
2022

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Journal of the Endocrine Society
2022

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

International journal of molecular sciences
2022

Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.

Clinical genetics
2022

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.

Frontiers in genetics
2022

Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2022

Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2022

Gitelman syndrome with normocalciuria - a case report.

BMC nephrology
2022

Early diagnosis of Gitelman syndrome in a young child: A case report.

World journal of clinical cases
2022

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.

Genes
2022

Gitelman syndrome, hypomagnesemia, and venous thrombosis: An intriguing association.

Clinical case reports
2022

NMDA Autoimmune Encephalitis and Severe Persistent Hypokalemia in a Pregnant Woman.

Brain sciences
2022

Renal calcium and magnesium handling in Gitelman syndrome.

American journal of translational research
2022

Different roles of the RAAS affect bone metabolism in patients with primary aldosteronism, Gitelman syndrome and Bartter syndrome.

BMC endocrine disorders
2022

Parathyroid 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 Association
2022

Successful living kidney donation from a patient with a Gitelman's syndrome.

BMJ case reports
2022

Persistent mild hypokalemia in an otherwise healthy 6-year-old girl: Answers.

Pediatric nephrology (Berlin, Germany)
2022

Gitelman syndrome: A first published clinical association with chronic pancreatitis, a case report and review of literature.

International journal of surgery case reports
2021

Unmasking of Gitelman Syndrome during Pregnancy in an Adolescent with Thyrotoxic Crisis.

Pediatric reports
2022

Molecular mechanisms for the modulation of blood pressure and potassium homeostasis by the distal convoluted tubule.

EMBO molecular medicine
2021

Euglycemic Diabetic Ketoacidosis Due to SGLT2 Inhibitor in a Patient With Gitelman Syndrome: A Therapeutic Dilemma.

Cureus
2022

Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.

Endocrine connections
2021

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.

International journal of molecular sciences
2021

A Challenging Case of Persisting Hypokalemia Secondary to Gitelman Syndrome.

Cureus
2021

[Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Phosphate Nephropathy in Gitelman Syndrome.

Kidney medicine
2021

Peripartum Management of Gitelman Syndrome for Vaginal Delivery: A Case Report and Review of Literature.

Anesthesia, essays and researches
2021

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.

Scandinavian journal of clinical and laboratory investigation
2022

Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus.

CEN case reports
2022

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Journal of the American Society of Nephrology : JASN
2021

The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes.

Nutrients
2022

Calcium pyrophosphate crystal deposition in Gitelman syndrome: which joint is affected?

Rheumatology (Oxford, England)
2022

Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome.

Rheumatology (Oxford, England)
2021

Gitelman syndrome and ectopic calcification in the retina and joints.

Clinical kidney journal
2021

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis.

Case reports in nephrology and dialysis
2021

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.

NPJ genomic medicine
2021

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Scientific reports
2021

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report.

BMC medical genomics
2021

Gitelman syndrome with transient renal tubular damage in early childhood.

Pediatrics international : official journal of the Japan Pediatric Society
2021

Urinary Extracellular Vesicles for Renal Tubular Transporters Expression in Patients With Gitelman Syndrome.

Frontiers in medicine
2021

Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.

Pediatric nephrology (Berlin, Germany)
2021

Gitelman Syndrome in Pregnancy: A Clinical Challenge.

Zeitschrift fur Geburtshilfe und Neonatologie
2021

[Analysis of clinical features and genetic variants among 12 children with Gitelman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Anesthetic management of child with Gitelman Syndrome: case report.

Brazilian journal of anesthesiology (Elsevier)
2021

Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient.

International journal of general medicine
2021

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

BioMed research international
2021

Molecular Mechanisms of Renal Magnesium Reabsorption.

Journal of the American Society of Nephrology : JASN
2021

Delayed growth and puberty in Gitelman syndrome.

Medicina clinica
2021

ACE2 and SARS-CoV-2 Infection Risk: Insights From Patients With Two Rare Genetic Tubulopathies, Gitelman's and Bartter's Syndromes.

Frontiers in medicine
2021

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.

Frontiers in pediatrics
Ver todos os 445 no EuropePMC

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Doenças relacionadas

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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.

  1. Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?
    Frontiers in pediatrics· 2026· PMID 41867936mais citado
  2. Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.
    Clinical case reports· 2026· PMID 41815885mais citado
  3. Unmasking of a Heterozygous SLC12A3 Variant.
    Kidney medicine· 2026· PMID 41767689mais citado
  4. Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.
    Current issues in molecular biology· 2026· PMID 41751411mais citado
  5. Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.
    Cureus· 2026· PMID 41700263mais citado
  6. Pneumonia due to Mycobacterium shimoidei: a rare non-tuberculous mycobacterial infection in a young patient with anorexia nervosa.
    Infection· 2026· PMID 41989720recente
  7. A novel variant of SLC12A3 in Gitelman syndrome with hypertension: a case report.
    AME Case Rep· 2026· PMID 41971912recente
  8. Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.
    Front Immunol· 2026· PMID 41958666recente
  9. [Analysis of novel mutations in the SLC12A3 gene of a family with Gitelman syndrome].
    Zhonghua Nei Ke Za Zhi· 2026· PMID 41942324recente
  10. Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report.
    BMC Nephrol· 2026· PMID 41928112recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:358(Orphanet)
  2. OMIM OMIM:263800(OMIM)
  3. MONDO:0009904(MONDO)
  4. GARD:8547(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1053120(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

Síndrome Gitelman
Compêndio · Raras BR

Síndrome Gitelman

ORPHA:358 · MONDO:0009904
Prevalência
1-9 / 100 000
Herança
Autosomal recessive
CID-10
N15.8 · Outras doenças renais túbulo-intersticiais especificadas
CID-11
Ensaios
2 ativos
Início
Childhood
Prevalência
2.5 (Europe)
MedGen
UMLS
C0268450
EuropePMC
Wikidata
Wikipedia
Papers 10a
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