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.
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.
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
+ 40 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 85 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
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)
Cell membraneApical cell membrane
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.
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)
701 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
3 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 Gitelman
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Outros ensaios clínicos
7 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?
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.
Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.
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.
Unmasking of a Heterozygous SLC12A3 Variant.
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.
Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.
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.
Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.
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
Pneumonia due to Mycobacterium shimoidei: a rare non-tuberculous mycobacterial infection in a young patient with anorexia nervosa.
A novel variant of SLC12A3 in Gitelman syndrome with hypertension: a case report.
Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.
[Analysis of novel mutations in the SLC12A3 gene of a family with Gitelman syndrome].
Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report.
📚 EuropePMC445 artigos no totalmostrando 197
Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?
Frontiers in pediatricsClinical and genetic features in 30 children with Gitelman syndrome.
BMC nephrologyGitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.
Clinical case reportsUnmasking of a Heterozygous SLC12A3 Variant.
Kidney medicinePotential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.
Current issues in molecular biologyGitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.
CureusSemicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging.
Diagnostic and interventional radiology (Ankara, Turkey)Revisiting the diagnosis: HNF1β mutation masquerading as Gitelman syndrome.
CEN case reportsGitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review.
Clinical case reportsCRISPR/Cas9-based SLC12A3 gene knock in: a model for cellular feature analysis in Gitelman syndrome.
Kidney research and clinical practiceGitelman syndrome in a pediatric patient: a case report and literature review.
Frontiers in pediatricsComplexities of Bartter Syndrome Type III: A Case Study in Jordan.
Oxford medical case reportsRefractory hypercalcemic crisis: A case of primary hyperparathyroidism with Gitelman syndrome.
The Journal of international medical researchClinical and genetic features of Gitelman syndrome patients with hyperuricemia.
Clinical kidney journal[Acquired Gitelman syndrome and suspected pseudogouty arthritis in a patient with primary Sjögren's syndrome].
Zhonghua nei ke za zhiClinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.
Kidney international reportsThe osteoarticular features of Gitelman Syndrome: Chondrocalcinosis and more.
Seminars in arthritis and rheumatismThe 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 BiologyNovel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.
Human genomicsNovel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.
Nephrology (Carlton, Vic.)Pregnancy complicated with Gitelman syndrome: A case report and literature review.
MedicinePseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.
Frontiers in geneticsGitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series.
CureusAdult-Onset Gitelman Syndrome: Case Analysis and Literature Review.
Case reports in medicineFirst case report in China of Gitelman syndrome associated with ileocecal polyps in a child: a case report.
BMC pediatricsProlonged hypokalemia long after causative factor elimination in pseudo-Bartter/Gitelman syndrome.
Clinical and experimental nephrologyEstimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data.
Kidney international reportsA Case of Gitelman Syndrome Complicated by Growth Hormone Deficiency.
Clinical laboratoryTransport and thiazide-inhibition mechanisms of the Na-Cl cotransporter: a structural perspective.
Current opinion in nephrology and hypertensionUnique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.
SAGE open medical case reportsGitelman syndrome: diagnostic challenges and therapeutic strategies.
Clinica chimica acta; international journal of clinical chemistryDual Diagnostic Dilemma: Gitelman Syndrome and Incidental Neuroendocrine Tumor in a Young Adult With Refractory Hypokalemia.
CureusAutosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.
Case reports in medicineNovel TRPM3 missense mutation leading to severe hypocalcemia presenting as seizures and complicated by non-sustained ventricular tachycardia: A case report.
Qatar medical journalGitelman Syndrome in the Sixth Decade: An Atypical Presentation with Severe Electrolyte Abnormalities and Genetic Heterogeneity.
Annals of African medicineGitelman syndrome with hypercalcemia and normomagnesemia: A case report.
MedicineGitelman Syndrome in a Toddler With Normal Blood Test Findings Except on Sick Days.
Nephrology (Carlton, Vic.)Decoding Gitelman syndrome in a structurally normal heart with polymorphic ventricular tachycardia: A case report.
HeartRhythm case reportsHypomagnesemia induces impaired glucose metabolism and insulin resistance in patients with Gitelman syndrome.
Diabetes research and clinical practiceThe role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.
BMC nephrologyRare Case of Adult-Onset Gitelman Syndrome in a Patient With Multiple Comorbidities: A Case Report.
Clinical case reportsCase Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
Frontiers in endocrinologyRecurrent falls as the presentations of Gitelman syndrome in an octogenarian.
AgingGitelman syndrome presenting with lower limb paralysis: a case report.
Journal of medical case reportsFunctional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Orphanet journal of rare diseasesAn early onset Gitelman syndrome presenting in a boy with failure to thrive with recurrent hypokalemia and hypomagnesemia: a case report.
The Pan African medical journalGitelman syndrome with diabetes and kidney stones: A case report.
MedicineAutoimmune Tubulopathies.
Journal of the American Society of Nephrology : JASNGitelman syndrome patient managed with amiloride during pregnancy and lactation.
BMC nephrologyFinerenone 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 reportsCardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.
Journal of hypertensionHereditary salt-wasting tubulopathy associated with SLC12A3 mutation: Description of a case of Gitelman Syndrome.
Medicina clinicaClinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.
Clinical laboratoryHypokalemia Induced Partial Nephrogenic Diabetes Insipidus: A Case Report.
JNMA; journal of the Nepal Medical AssociationHerlyn Werner Wunderlich Syndrome with Hydrocolpos: A Case Report.
JNMA; journal of the Nepal Medical AssociationUntangling 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 sciencesPrevalence of kidney failure in adults diagnosed with hereditary tubulopathies.
Journal of nephrologyConcurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.
The American journal of case reportsGitelman syndrome with primary hyperparathyroidism: A case report.
MedicineA missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.
Clinica chimica acta; international journal of clinical chemistryCase report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review.
Frontiers in 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 physiologyPathophysiological role of Na-Cl cotransporter in kidneys, blood pressure, and metabolism.
Human cellIntriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease: Triad of rare diseases: A case report.
SAGE open medical case reportsFirst Diagnosis of Gitelman Syndrome During Pregnancy in an Adolescent Female: A Case Report.
CureusChemotherapy-induced tubulopathy: a case report series.
Frontiers in nephrologyGitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology.
CEN case reportsClinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report.
MedicineAdult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Endocrine journalGenotype-phenotype correlations in children with Gitelman syndrome.
Clinical and experimental nephrology[Genetic analysis of two patients with Gitelman syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe 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 endocrinologyNavigating the multifaceted intricacies of the Na+-Cl- cotransporter, a highly regulated key effector in the control of hydromineral homeostasis.
Physiological reviewsA novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
CEN case reportsA case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease.
CEN case reportsKinase Scaffold Cab39 Is Necessary for Phospho-Activation of the Thiazide-Sensitive NCC.
Hypertension (Dallas, Tex. : 1979)Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B.
Nephrology (Carlton, Vic.)Knowing the meaning of the words we use: Gitelman's syndrome or Gitelman's disease?
NefrologiaPseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria.
Electrolyte & blood pressure : E & BPAn unusual complication secondary to kanamycin use in a patient of multidrug-resistant pulmonary tuberculosis.
Medical journal, Armed Forces IndiaGitelman syndrome combined with diabetes mellitus: A case report and literature review.
MedicineLong-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 reportsA case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.
Acta epileptologicaMitochondrial Dysfunction in Kidney Tubulopathies.
Annual review of physiology[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 geneticsGitelman Syndrome Manifesting With Acute Hypokalemic Paralysis: A Case Report.
CureusGitelman Syndrome and Hypertension: A Case Report.
CureusHeart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.
CureusSpectrum of variants in a large Chinese Gitelman syndrome cohort.
Clinical geneticsOcular manifestations of the genetic renal tubulopathies.
Ophthalmic geneticsPattern of hereditary renal tubular disorders in Egyptian children.
The Turkish journal of pediatricsNovel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.
MedicineGitelman syndrome and type 1 diabetes mellitus: An uncommon association.
Medicina clinicaTwo Brothers from Macedonia with Gitelman Syndrome.
Balkan journal of medical genetics : BJMGJoint manifestations revealing inborn metabolic diseases in adults: a narrative review.
Orphanet journal of rare diseasesGenotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
Scientific reportsNovel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report.
Frontiers in geneticsPseudo-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 EndocrinologyMolecular complexity analysis of the diagnosis of Gitelman syndrome in China.
Open life sciencesSpectrum of Disorders associated with Tetany.
The Journal of the Association of Physicians of IndiaSudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.
Frontiers in pediatricsDiabetic ketoacidosis in a patient known with Gitelman syndrome.
JRSM openCase report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.
MedicineGitelman Syndrome: A Case Report.
CureusGitelman Syndrome Presenting with Cerebellar Ataxia and Tetany.
Indian journal of nephrologyNovel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.
International journal of general medicineGitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.
BMC nephrology[Regulation of kidney on potassium balance and its clinical significance].
Sheng li xue bao : [Acta physiologica Sinica]A case report of Gitelman syndrome in children.
MedicineA triple SLC12A3 heterozygous mutations in Gitelman syndrome with renal calculi.
HippokratiaA case of advanced breast cancer with Gitelman syndrome.
International cancer conference journalBartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
NephronAdvanced chronic kidney disease with life-threatening hypokalemia due to undiagnosed Gitelman syndrome.
Clinical nephrology. Case studiesClinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
NephronStructure and thiazide inhibition mechanism of the human Na-Cl cotransporter.
NatureCardiac Arrest as the First Presentation of Gitelman Syndrome.
CureusTotal colectomy for poorly controlled hypokalaemia due to Gitelman syndrome.
BMJ case reportsDifficulties in the management of hypokalemia in a pregnant patient with Gitelman syndrome.
Ginekologia polskaGitelman syndrome presenting with primary nocturnal enuresis: Causation or coincidence?
Pediatrics and neonatologyPathophysiologic approach in genetic hypokalemia: An update.
Annales d'endocrinologieMinigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.
Molecular genetics & genomic medicineNovel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
Clinical endocrinologyGitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review.
Case reports in perinatal medicineGitelman syndrome - A new mutation in the SLC12A3 gene.
NefrologiaRecurrent Episodes of Hypokalaemia during Treatment with Inhaled Beta-2 Agonist Revealing Gitelman Syndrome, an Uncommon Clinical Entity.
European journal of case reports in internal medicineR158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.
Frontiers of medicineClinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.
Turkish archives of pediatricsLong-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Journal of the American Society of Nephrology : JASNMETFORMIN-AND GLICLAZIDE-BASED DIABETES TREATMENT EXPERIENCE IN A PATIENT WITH GITELMAN SYNDROME.
Acta endocrinologica (Bucharest, Romania : 2005)Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview.
Clinical rheumatologyNovel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
World journal of clinical casesUsing human urinary extracellular vesicles to study physiological and pathophysiological states and regulation of the sodium chloride cotransporter.
Frontiers in endocrinologyBartter and Gitelman syndromes.
Casopis lekaru ceskychGenetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.
Journal of nephrologyThe Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management.
Reviews in cardiovascular medicineMagnesium is crucial in renal-cardiovascular fibrosis but the Gitelman's syndrome paradox still awaits resolution.
International urology and nephrologyAnesthetic Considerations for Cesarean Delivery in a Parturient With Severe Gitelman Syndrome.
CureusThe genetic spectrum of Gitelman(-like) syndromes.
Current opinion in nephrology and hypertensionA case of Gitelman syndrome with membranous nephropathy.
BMC nephrologyMultiple molecular mechanisms are involved in the activation of the kidney sodium-chloride cotransporter by hypokalemia.
Kidney internationalGitelman's and Bartter's Syndromes: From Genetics to the Molecular Basis of Hypertension and More.
Kidney & blood pressure researchConcurrent Gitelman Syndrome-like Tubulopathy and Grave's Disease.
Indian journal of nephrologyPotassium and Magnesium in Breast Milk of a Woman With Gitelman Syndrome.
Kidney international reportsA Case of Gitelman Syndrome with Hypercalcemia Secondary to Primary Hyperparathyroidism.
Case reports in endocrinologyDetecting pathogenic deep intronic variants in Gitelman syndrome.
American journal of medical genetics. Part ANa-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 USAA novel mutation of SLC12A3 gene causing Gitelman syndrome.
SAGE open medical case reportsThe 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 sciencesMolecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.
Clinical geneticsGenetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Frontiers in geneticsWhole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesMetabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.
American journal of kidney diseases : the official journal of the National Kidney FoundationGitelman syndrome with normocalciuria - a case report.
BMC nephrologyEarly diagnosis of Gitelman syndrome in a young child: A case report.
World journal of clinical casesRapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.
GenesGitelman syndrome, hypomagnesemia, and venous thrombosis: An intriguing association.
Clinical case reportsNMDA Autoimmune Encephalitis and Severe Persistent Hypokalemia in a Pregnant Woman.
Brain sciencesRenal calcium and magnesium handling in Gitelman syndrome.
American journal of translational researchDifferent 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 AssociationSuccessful living kidney donation from a patient with a Gitelman's syndrome.
BMJ case reportsPersistent mild hypokalemia in an otherwise healthy 6-year-old girl: Answers.
Pediatric nephrology (Berlin, Germany)Gitelman syndrome: A first published clinical association with chronic pancreatitis, a case report and review of literature.
International journal of surgery case reportsUnmasking of Gitelman Syndrome during Pregnancy in an Adolescent with Thyrotoxic Crisis.
Pediatric reportsMolecular mechanisms for the modulation of blood pressure and potassium homeostasis by the distal convoluted tubule.
EMBO molecular medicineEuglycemic Diabetic Ketoacidosis Due to SGLT2 Inhibitor in a Patient With Gitelman Syndrome: A Therapeutic Dilemma.
CureusFrequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.
Endocrine connectionsMolecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.
International journal of molecular sciencesA Challenging Case of Persisting Hypokalemia Secondary to Gitelman Syndrome.
Cureus[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 geneticsPhosphate Nephropathy in Gitelman Syndrome.
Kidney medicinePeripartum Management of Gitelman Syndrome for Vaginal Delivery: A Case Report and Review of Literature.
Anesthesia, essays and researchesNovel mutations of the SLC12A3 gene in patients with Gitelman syndrome.
Scandinavian journal of clinical and laboratory investigationGitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus.
CEN case reportsGitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Journal of the American Society of Nephrology : JASNThe Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes.
NutrientsCalcium pyrophosphate crystal deposition in Gitelman syndrome: which joint is affected?
Rheumatology (Oxford, England)Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome.
Rheumatology (Oxford, England)Gitelman syndrome and ectopic calcification in the retina and joints.
Clinical kidney journalThe First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis.
Case reports in nephrology and dialysisAllele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
NPJ genomic medicineExamination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Scientific reportsA 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 genomicsGitelman syndrome with transient renal tubular damage in early childhood.
Pediatrics international : official journal of the Japan Pediatric SocietyUrinary Extracellular Vesicles for Renal Tubular Transporters Expression in Patients With Gitelman Syndrome.
Frontiers in medicineTubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.
Pediatric nephrology (Berlin, Germany)Gitelman Syndrome in Pregnancy: A Clinical Challenge.
Zeitschrift fur Geburtshilfe und Neonatologie[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 geneticsAnesthetic management of child with Gitelman Syndrome: case report.
Brazilian journal of anesthesiology (Elsevier)Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient.
International journal of general medicineReview and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.
BioMed research internationalMolecular Mechanisms of Renal Magnesium Reabsorption.
Journal of the American Society of Nephrology : JASNDelayed growth and puberty in Gitelman syndrome.
Medicina clinicaACE2 and SARS-CoV-2 Infection Risk: Insights From Patients With Two Rare Genetic Tubulopathies, Gitelman's and Bartter's Syndromes.
Frontiers in medicineClinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.
Frontiers in pediatricsAssociações
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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.
- Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy-causation or coincidence?
- Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.
- Unmasking of a Heterozygous SLC12A3 Variant.
- Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.
- Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.
- Pneumonia due to Mycobacterium shimoidei: a rare non-tuberculous mycobacterial infection in a young patient with anorexia nervosa.
- A novel variant of SLC12A3 in Gitelman syndrome with hypertension: a case report.
- Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.
- [Analysis of novel mutations in the SLC12A3 gene of a family with Gitelman syndrome].
- Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:358(Orphanet)
- OMIM OMIM:263800(OMIM)
- MONDO:0009904(MONDO)
- GARD:8547(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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
