Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11849558 | PMC |
| http://dx.doi.org/10.1590/2175-8239-JBN-2024-0204en | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Adult-onset Bartter syndrome type IV B with ACTH secreting pituitary microadenoma.
J Bras Nefrol
January 2025
SRM Medical College Hospital and Research Centre, Department of Nephrology, Chengalpattu, India.
Background: Type III Bartter syndrome (BS) is an autosomal recessive renal tubular disease caused by the mutation of the chloride voltage-gated channel Kb (CLCNKB) gene. This condition is characterized by renal sodium loss, hypokalemia, metabolic alkaliosis, high renin, and high aldosterone levels.
Methods: We report a case of adult type III BS caused by a novel complex heterozygous mutation of the CLCNKB gene.
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Endocr J
May 2024
Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China.
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. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited.
View Article and Find Full Text PDFA Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report.
Cureus
March 2023
Department of Medicine, Kasturba Medical College, Manipal, Manipal, IND.
Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria. It usually presents in neonates, with vomiting, dehydration, and failure to thrive. It results from mutations in several genes, including KCNJ1, CLCNKB, CLCNKA, BSND, and ROMK, which encode ion transporters.
View Article and Find Full Text PDFAssociation of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder.
Cureus
August 2021
internal Medicine/Nephrology, Shifa International Hospital, Islamabad, PAK.
Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. We are reporting a case of 21 years old patient, who presented with lower limb weakness, marked hypokalemia, proteinuria, and renal impairment detected on laboratory evaluation. The diagnosis of Bartter syndrome was suspected by marked hypokalemia and was supported by renal biopsy which showed evidence of Juxtaglomerular (JG) hyperplasia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!