Results 21 to 30 of about 490 (115)

Infantile Nephropathic Cystinosis Presenting as Bartter-like Syndrome in Infancy: A Case Report with CTNS Gene Variant [PDF]

Journal of Clinical and Diagnostic Research
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, leading to cystine accumulation and multiorgan involvement.
Elakeya Elumalai Saraswaty, Shivaashankari Dharmalingam, Shanmugam Muthukrishnan, Ajay Subramanian   +3 more
doaj   +1 more source

Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Bartter syndrome is a rare autosomal recessive renal tubulopathy, which classically presents with hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism. We report an atypical presentation in a 16‐year‐old male who was diagnosed following an initial manifestation of acute pancreatitis.
Noor Ayaz, Matti Ullah, Waqar Ahmad, Farhan Ullah, Ikram Ullah Khan, Fahad Naim, Awais Naeem, Fatima Sajjad, Kamil Ahmad Kamil   +8 more
wiley   +1 more source

Molecular pharmacology of kidney and inner ear CLC-K chloride channels

Frontiers in Pharmacology, 2010
CLC-K channels belong to the CLC gene family, which comprises both Cl- channels and Cl-/H+ antiporters. They form homodimers which additionally co-assemble with the small protein barttin.
Antonella eGradogna, Michael ePusch
doaj   +1 more source

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb‐Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome

Acta Physiologica, Volume 242, Issue 9, September 2026.
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Marleen L. A. Kortenoeven, Milos Bogdanovic, Ida Appel, Karsten Skjødt, Ernst‐Martin Fuchtbauer, Kirsten Madsen, Lars Lund, Régine Chambrey, Dominique Eladari, R. Todd Alexander, Christian A. Hübner, J. Christopher Hennings, Henrik Dimke   +12 more
wiley   +1 more source

Urine electrolytes guide treatment of Gitelman syndrome and recurrent syncope—A case report

Physiological Reports, Volume 14, Issue 18, September 2026.
Abstract Syncope is a common reason for inpatient admission. Few case studies describe an association between syncope and Gitelman syndrome (GS). Herein, we present a case of a woman with hypokalemia and recurrent syncope which eventually led to a diagnosis of GS. A physiologic approach to urine electrolyte interpretation informed clinical decisions to
Saloni Agrawal, Kenneth M. Fifer, Samira S. Farouk, Joshua L. Rein   +3 more
wiley   +1 more source

Failure to Thrive, Can this be Bartter’s Syndrome?

Journal of the Dow University of Health Sciences, 2011
A case series of four children, of different age groups, having complaints of polyuria and failure to thrive. These cases include two infants, a toddler and a child and investigations revealed that they had hyponatremia, hypokalemia, hyperchloremia and ...
Nighat Aijaz, Saira Waqar Lone, Nasrul Huda, S. Shakil Ahmed Rizvi, Abdul Gaffar Billoo   +4 more
doaj   +2 more sources

BARTTER'S SYNDROME: A CASE REPORT OF NEPHROCALCINOSIS

Eurasian Journal of Medicine, 2019
Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically
Aves Editorial Aves Editorial
doaj  

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Home Parenteral Support in Severe Gitelman Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Gitelman syndrome (GS), also known as familial hypokalaemia‐hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this ...
Georgia Martin, Ibrahim Fahal, Shameer Mehta   +2 more
wiley   +1 more source

Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia

Case Reports in Medicine, 2013
Introduction. Gitelman’s syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Madhav Desai, Praveen Kumar Kolla, P. L. Venkata Pakki Reddy   +2 more
doaj   +1 more source