Cargando…

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene

Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Shibli, Amar, Yusuf, Madinah, Abounajab, Issam, Willems, Patrick J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2014
Materias:	Case Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977018/ https://www.ncbi.nlm.nih.gov/pubmed/24711981 http://dx.doi.org/10.1186/2193-1801-3-96

Ejemplares similares

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

Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome
por: Wang, Chunli, et al.
Publicado: (2020)

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
por: Lee, Jae Wook, et al.
Publicado: (2016)

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis
por: Zhao, Qianying, et al.
Publicado: (2022)

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)

Erratum: Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
por: Han, Jin Suk
Publicado: (2016)

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

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

A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report
por: Zhou, Lan, et al.
Publicado: (2023)

A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration
por: Ohkubo, Kumiko, et al.
Publicado: (2014)

Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
por: Nojehdeh, Somayeh Takrim, et al.
Publicado: (2022)

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

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report
por: Zhu, Binlu, et al.
Publicado: (2019)

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome
por: Kong, Yuanmei, et al.
Publicado: (2019)

The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman’s and Bartter’s Syndromes
por: Francini, Francesco, 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)

Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome
por: Kong, Yuanmei, et al.
Publicado: (2019)

Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree
por: Mou, Lijun, 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 Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene
por: Wang, Xiumin, et al.
Publicado: (2013)

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians
por: Nuñez-Gonzalez, Laura, et al.
Publicado: (2021)

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)

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)

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)

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)

Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain
por: Peces, Ramón, et al.
Publicado: (2021)

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)

Genetic heterogeneity in patients with Bartter syndrome type 1
por: Sun, Mingran, et al.
Publicado: (2017)

Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance
por: Florea, Laura, et al.
Publicado: (2022)

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)

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay
por: Xin, Qing, et al.
Publicado: (2022)

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

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
por: Tschernoster, Nikolai, et al.
Publicado: (2023)

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

Cannot write session to /tmp/vufind_sessions/sess_jc9tfgk91q0vgf9beb25rk4577