Cargando…

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

Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nuñez-Gonzalez, Laura, Carrera, Noa, Garcia-Gonzalez, Miguel A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584233/ https://www.ncbi.nlm.nih.gov/pubmed/34768847 http://dx.doi.org/10.3390/ijms222111414

Ejemplares similares

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians
por: Martínez-Pulleiro, Raquel, et al.
Publicado: (2021)

Gitelman's and Bartter's Syndromes: From Genetics to the Molecular Basis of Hypertension and More
por: Ravarotto, Verdiana, et al.
Publicado: (2022)

Clinical and diagnostic features of Bartter and Gitelman syndromes
por: Walsh, Patrick R, et al.
Publicado: (2018)

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes
por: Bamgbola, Oluwatoyin Fatai, et al.
Publicado: (2021)

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes
por: Bamgbola, Oluwatoyin Fatai, et al.
Publicado: (2020)

Bartter and Gitelman syndromes: Questions of class
por: Besouw, Martine T. P., et al.
Publicado: (2019)

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome
por: Palazzo, Viviana, et al.
Publicado: (2022)

The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman’s and Bartter’s Syndromes
por: Francini, Francesco, et al.
Publicado: (2021)

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects
por: Seyberth, Hannsjörg W., et al.
Publicado: (2011)

A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
por: Cho, Hee-Won, et al.
Publicado: (2016)

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study
por: Verploegen, Maartje F A, et al.
Publicado: (2022)

Oxidants and Cardiorenal Vascular Remodeling—Insights from Rare Genetic Tubulopathies: Bartter’s and Gitelman’s Syndromes
por: Sgarabotto, Luca, et al.
Publicado: (2023)

The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease—A Primer for Clinicians
por: Cordido, Adrián, et al.
Publicado: (2017)

Diuretic loading test and use of Bartter's Normogram in diagnosing a case of Gitelman's syndrome: Relook into pathophysiology
por: Goswami, R. P., et al.
Publicado: (2011)

Different roles of the RAAS affect bone metabolism in patients with primary aldosteronism, Gitelman syndrome and Bartter syndrome
por: Tang, Wangna, et al.
Publicado: (2022)

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
por: Stevenson, Mark, et al.
Publicado: (2022)

Impaired ACE2 glycosylation and protease activity lowers COVID‐19 susceptibility in Gitelman's and Bartter's syndromes
por: Bertoldi, Giovanni, et al.
Publicado: (2021)

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene
por: Al-Shibli, Amar, et al.
Publicado: (2014)

Far di Necessità Virtù, using rare tubulopathies, Gitelman’s and Bartter’s syndromes, to inform the fight against COVID-19
por: Calò, Lorenzo A., et al.
Publicado: (2021)

Are the Clinical Presentations (Phenotypes) of Gitelman’s and Bartter’s Syndromes Gene Mutations Driven by Their Effects on Intracellular pH, Their “pH” Enotype?
por: Calò, Lorenzo A, et al.
Publicado: (2020)

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
por: Dong, Bingzi, et al.
Publicado: (2020)

Rho kinase inhibitors for SARS-CoV-2 induced acute respiratory distress syndrome: Support from Bartter’s and Gitelman’s syndrome patients
por: Calò, Lorenzo A., et al.
Publicado: (2020)

ACE2 and SARS-CoV-2 Infection Risk: Insights From Patients With Two Rare Genetic Tubulopathies, Gitelman's and Bartter's Syndromes
por: Calò, Lorenzo A., et al.
Publicado: (2021)

Ultrasonography in diagnostic dermatology: a primer for clinicians
por: Raza, Sami, et al.
Publicado: (2022)

Gitelman syndrome
por: Knoers, Nine VAM, et al.
Publicado: (2008)

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
por: García Castaño, Alejandro, et al.
Publicado: (2013)

Primary Molecular Disorders and Secondary Biological Adaptations in Bartter Syndrome
por: Deschênes, Georges, et al.
Publicado: (2011)

Acquired Gitelman Syndrome
por: Kim, Yong Kyun, et al.
Publicado: (2009)

Gitelman syndrome and pregnancy
por: Moustakakis, Michael N., et al.
Publicado: (2012)

Gitelman syndrome in an infant
por: Nandi, M., et al.
Publicado: (2015)

A Challenging Case of Persisting Hypokalemia Secondary to Gitelman Syndrome
por: Bakir, Mohamad, et al.
Publicado: (2021)

Molecular complexity analysis of the diagnosis of Gitelman syndrome in China
por: Song, Wei, et al.
Publicado: (2023)

A primer on deep learning and convolutional neural networks for clinicians
por: Iglesias, Lara Lloret, et al.
Publicado: (2021)

Cystinosis Presenting with Findings of Bartter Syndrome
por: Özkan, Behzat, et al.
Publicado: (2011)

Antenatal Bartter Syndrome: A Review
por: Bhat, Y. Ramesh, et al.
Publicado: (2012)

Anaesthesia for laparoscopic cholecystectomy in Bartter’s syndrome
por: Bhaskar, Bala S, et al.
Publicado: (2010)

Antenatal Bartter's syndrome with sensorineural deafness
por: Bhamkar, R. P., et al.
Publicado: (2009)

Bartter's syndrome in a geriatric patient
por: Kumar, A. C. V., et al.
Publicado: (2016)

Bartter syndrome: causes, diagnosis, and treatment
por: Cunha, Tamara da Silva, et al.
Publicado: (2018)

Association of Amelogenesis Imperfecta and Bartter's Syndrome
por: Kumar, A. C. V., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_u4pefefuqnnr5mq44lkdtuk0o0