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About 355 results

ALLMedicine™ Bartter Syndrome Center

Research & Reviews  138 results

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal g...
https://doi.org/10.1002/mgg3.2027
Molecular Genetics & Genomic Medicine; Zhao Q, Xiang Q et. al.

Aug 2nd, 2022 - Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC-Kb, and is characterized by renal salt wasting, hypokalemia, metabolic alkalo...

Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272577
The American Journal of Case Reports; Sadagah LF, Makeen AZ et. al.

Jul 6th, 2022 - BACKGROUND Congenital chloride diarrhea (CCD) is an autosomal recessive disease that is usually diagnosed in early childhood. Mutations in the SLC26A3 gene have been attributed to the primary etiology of disease development. Patients with CCD usua...

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235087
BMC Nephrology; Yang S, Yao G et. al.

Jun 28th, 2022 - Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasi...

Bartter-like syndrome induced by tacrolimus in a renal transplanted boy: A Case Report.
https://doi.org/10.2174/1574886317666220518085725
Current Drug Safety; Dias RF, Monteiro MDC et. al.

May 21st, 2022 - Losing-salt tubulopathies, such as Bartter syndrome, are rare and usually inherited due to mutations of tubular reabsorption channels of the nephrons. Despite its scarcity, some cases of acquired losing-salt tubulopathies have been described. In t...

Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.
https://doi.org/10.1053/j.ajkd.2021.12.016
American Journal of Kidney Diseases : the Official Journa... Do C, Vasquez PC et. al.

May 8th, 2022 - Metabolic alkalosis is a widespread acid-base disturbance, especially in hospitalized patients. It is characterized by the primary elevation of serum bicarbonate and arterial pH, along with a compensatory increase in Pco2 consequent to adaptive hy...

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Guidelines  1 results

Diagnosis and management of Bartter syndrome: executive summary of the consensus and re...
https://doi.org/10.1016/j.kint.2020.10.035
Kidney International; Konrad M, Nijenhuis T et. al.

Jan 30th, 2021 - Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure. The primary pathogenic mechanism is defe...

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Clinicaltrials.gov  2 results

Acetazolamide (AZ) for Management of Alkalosis in Bartter Syndrome
https://clinicaltrials.gov/ct2/show/NCT03847571

Feb 20th, 2019 - Bartter syndrome is a hereditary salt-loosing tubulopathy caused by several gene mutations encoding the sodium reabsorption in the thick ascending limb of loop of Henle, with poor response to treatment. The effects of inhibition of proximal tubula...

Parathyroid Hormone (PTH) Homeostasis in Bartter Syndrome
https://clinicaltrials.gov/ct2/show/NCT01021280

Jun 14th, 2012 - The parathyroid glands play a pivotal physiological function by maintaining blood calcium levels, specifically blood ionized calcium concentrations, within a very narrow range. They do so by modulating the minute-to-minute release of parathyroid h...

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News  1 results

Are Medical Blogs Important? Survey Says…
https://www.medscape.com/viewarticle/702514

May 12th, 2009 - In a nondescript hospital somewhere, an attending physician -- bald, not quite as spry as he once was -- sits down at a computer and does something that he could not have imagined 35 years ago in medical school. He pulls up PubMed or eMedicine, or...

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