Gitelman Syndrome
What's New
Last Posted: Sep 20, 2023
- Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Lijun Mou, et al. Clinical genetics 2023 0 - Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich Maria Helena, et al. Nephron 2023 0 1-18 - Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Zhong F, et al. Journal of endocrinological investigation 2018 0 (6) 653-665 - Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Yanmei, et al. Medical science monitor : international medical journal of experimental and clinical research 2019 0 5942-5952 - HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Adalat Shazia, et al. Kidney international reports 2019 0 (9) 1304-1311 - Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
Blanchard Anne, et al. Journal of the American Society of Nephrology : JASN 2019 0 (8) 1534-1545 - [Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].
Ma Qian, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (12) 1368-1370 - Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori Takayasu, et al. Human mutation 2020 0 (3) 300-309 - Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.
He Guangyu, et al. Medicine 2020 0 (29) e21123 - Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan Ming-Tso, et al. NPJ genomic medicine 2021 0 (1) 68 - Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome.
Chotard Emilie, et al. Rheumatology (Oxford, England) 2021 0 (6) 2494-2503 - Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo Atsushi, et al. Scientific reports 2021 0 (1) 16099 - Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering Daan, et al. Journal of the American Society of Nephrology : JASN 2021 0 (2) 305-325 - Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.
Wang Feng, et al. Scandinavian journal of clinical and laboratory investigation 2021 0 (8) 629-633 - Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.
Zheng Xinyi, et al. Clinical nephrology 2021 0 (3) 165-174 - Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.
Huseynli Bahruz, et al. Turkish archives of pediatrics 2022 0 (6) 644-650 - Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Viering Daan H H M, et al. Journal of the American Society of Nephrology : JASN 2022 0 (2) 333-345 - Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.
Zhang Xinyue, et al. Clinical genetics 2022 0 (3) 228-233 - Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.
Peces Ramón, et al. Genes 2022 0 (3) - Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.
Xie Rongrong, et al. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022 0 (3) 401-406 - Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura Junya, et al. Kidney international reports 2019 0 (1) 119-125 - Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.
Shen Qian, et al. Clinical genetics 2020 0 (4) 558-564 - Heterozygosity for a Pathogenic Variant in
Wan Xuesi, et al. Journal of the American Society of Nephrology : JASN 2021 0 (3) 756-765 - [Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome].
Zhang Mingying, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 (11) 1087-1090 - High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux Marguerite et al. Kidney international 2019 Sep - The challenges of diagnosis and management of Gitelman syndrome.
Urwin Stephanie et al. Clinical endocrinology 2019 Oct - Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients.
Peng Xiaoyan et al. Frontiers in endocrinology 2018 9559 - Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia.
Bao Minghui et al. Clinical and experimental hypertension (New York, N.Y. : 1993) 2018 Jun 1-8 - Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton Emma J et al. Kidney international 2018 Feb - Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Wang Fen, et al. Clinical and experimental nephrology 2016 5 - Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
Miao M, et al. Genetics and molecular research : GMR 2016 0 (2) - Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.
Balavoine A S, et al. European journal of endocrinology / European Federation of Endocrine Societies 2011 10 (4) 665-73 - Gitelman syndrome
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 15, 2024
- Content source: