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2025

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Year Number of Results
1982 1
1998 2
2003 3
2004 1
2007 1
2008 1
2009 1
2011 1
2016 1
2020 3
2021 1
2024 4
2025 1

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Page 1
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Jiang L, Li D, Guo Q, Li Y, Zan L, Ao R. Jiang L, et al. Endocr J. 2024 May 23;71(5):537-542. doi: 10.1507/endocrj.EJ23-0631. Epub 2024 Mar 19. Endocr J. 2024. PMID: 38508775 Free article. Review.
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. ...A literature review showed that no homozygous mutations
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, h
[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].
Cheng M, Meng X, Liu M, Gong CX. Cheng M, et al. Zhonghua Yi Xue Za Zhi. 2024 Sep 3;104(34):3256-3259. doi: 10.3760/cma.j.cn112137-20240315-00587. Zhonghua Yi Xue Za Zhi. 2024. PMID: 39193613 Review. Chinese.
The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like phenotype were retropectively analysed. ...Patients with type 1 Dent disease presenting with the Bartter-like phenotype …
The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like p …
Genetic background of neonatal hypokalemia.
Fang C, Zhou W. Fang C, et al. Pediatr Nephrol. 2025 Feb;40(2):301-317. doi: 10.1007/s00467-024-06492-5. Epub 2024 Sep 16. Pediatr Nephrol. 2025. PMID: 39283520 Review.
Neonatal hypokalemia (defined as a serum potassium level <3.5 mEq/L) is the most common electrolyte disorder encountered in clinical practice. In addition to common secondary causes, primary genetic etiologies are also closely associated with hypokalemia. ...For example …
Neonatal hypokalemia (defined as a serum potassium level <3.5 mEq/L) is the most common electrolyte disorder encountered in clinic …
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K. Nozu K, et al. Pediatr Int. 2020 Apr;62(4):428-437. doi: 10.1111/ped.14089. Epub 2020 Apr 13. Pediatr Int. 2020. PMID: 31830341 Review.
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. ...Recent advances in molecular biology have shown that these diseases can be genetically clas
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characte
Protein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation.
Laghmani K. Laghmani K. Cells. 2024 May 10;13(10):818. doi: 10.3390/cells13100818. Cells. 2024. PMID: 38786040 Free PMC article. Review.
Mutations in NKCC2 generate antenatal Bartter syndrome type 1 (type 1 BS), a life-threatening salt-losing nephropathy characterized by arterial hypotension, as well as electrolyte abnormalities. ...The most compelling evidence comes from patients with …
Mutations in NKCC2 generate antenatal Bartter syndrome type 1 (type 1 BS), a life-threatening salt-losing nephro …
Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.
Mayr B, Glaudo M, Schöfl C. Mayr B, et al. Trends Endocrinol Metab. 2016 Sep;27(9):643-652. doi: 10.1016/j.tem.2016.05.005. Epub 2016 Jun 20. Trends Endocrinol Metab. 2016. PMID: 27339034 Review.
Activating mutations of the G protein-coupled receptor, calcium-sensing receptor (CaSR), cause autosomal dominant hypocalcemia and Bartter syndrome type 5. These mutations lower the set-point for extracellular calcium sensing, thereby causing decreased …
Activating mutations of the G protein-coupled receptor, calcium-sensing receptor (CaSR), cause autosomal dominant hypocalcemia and Bartte
Disorders of distal nephron function.
Sebastian A, Hulter HN, Kurtz I, Maher T, Schambelan M. Sebastian A, et al. Am J Med. 1982 Feb;72(2):289-307. doi: 10.1016/0002-9343(82)90822-1. Am J Med. 1982. PMID: 6277192 Review.
The pathophysiologic features of the following disorders of distal nephron function are reviewed: (1) pseudohypoaldosteronism, a heterogenous group of disorders in which the signs and symptoms are suggestive of aldosterone deficiency, but in which aldosterone levels are supernorm …
The pathophysiologic features of the following disorders of distal nephron function are reviewed: (1) pseudohypoaldosteronism, a heterogenou …
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Pediatr Nephrol. 2009 Dec;24(12):2321-32. doi: 10.1007/s00467-008-0807-0. Epub 2008 Apr 30. Pediatr Nephrol. 2009. PMID: 18446382 Free PMC article. Review.
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. ...Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) co-transporter, …
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. ...Thus, …
NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
Koumangoye R, Bastarache L, Delpire E. Koumangoye R, et al. Function (Oxf). 2021;2(1):zqaa028. doi: 10.1093/function/zqaa028. Epub 2020 Nov 3. Function (Oxf). 2021. PMID: 33345190 Free PMC article. Review.
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman syndromes: two renal-dependent salt wasting disorders. Absence of disease was most surprising since the NKCC1 knockout mouse was sho …
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman …
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Ann N Y Acad Sci. 2007 Nov;1116:461-84. doi: 10.1196/annals.1402.030. Epub 2007 Sep 13. Ann N Y Acad Sci. 2007. PMID: 17872384 Review.
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. ...Thus, Bartter syndrome, an autosomal recessive disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) cotransporter, …
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. ...Thus, Bartter
17 results