Results 41 to 50 of about 3,169 (170)

A CASE OF ADULT VARIANT BARTTER SYNDROME

Pakistan Armed Forces Medical Journal, 2018
Bartter syndrome was first described in an article by Bartter et al in 1962 [1]. Bartter syndrome is a rare genetic disease characterized by hypokalemia, alkalosis, and normal to low blood pressure.
Sami Ullah, Malik Nadeem Azam, Zubair Waheed Khan, , Syed Muhammad Hassan Akhtar   +3 more
doaj   +2 more sources

Masks of Schwartz-Bartter Syndrome clinical pictures: a case report

Ожирение и метаболизм, 2008
Schwartz-Bartter Syndrome (synonyms: syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate secretion of vasopressin, anti-diabetes insipidus) - this is a rare disease characterized by excessive secretion of antidiuretic ...
E A Pigarova, L K Dzeranova, L Ya Rozhinskaya   +2 more
doaj   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report

Frontiers in Pediatrics, 2021
Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen, Yan Cao, Liyun Xu, Jingqi Liu, Xiaochuan Wu   +4 more
doaj   +1 more source

The kidney and the balance of sulfur and nitrogen as fundamental components of pH homeostasis

Physiological Reports, Volume 14, Issue 10, May 2026.
Biochemical processes involved in ammoniagenesis and regulation of pH homeostasis. Abstract The homeostasis of blood and tissue pH is fundamental for life, and pH imbalances may lead to coma and death. The regulation of the acid–base balance involves primarily the lungs and kidneys, and is strictly integrated via the endocrine and nervous systems ...
Vincenzo Graziano, Antonio Angeloni, Paolo Mené, Andrea Bellelli   +3 more
wiley   +1 more source

Gitelman Syndrome Presenting With Syncope and Treatment‐Refractory Hypokalemia in A Young Woman: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie, Abenezer A. Wolde, Lulit Y. Mengesha, Rahwa A. Kinfe, Chernet T. Mengistie, Zenebwork Y. Gubai   +5 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report

International Journal of General Medicine, 2014
Ahmed H Alhammadi, Mohamed Khalifa, Lolwa Alnaimi Department of Pediatrics, Division of General Pediatrics, Hamad Medical Corporation, Doha, Qatar Abstract: Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport ...
Alhammadi AH, Khalifa M, Alnaimi L
doaj  

Electrolyte Replacement in Bartter Syndrome With Abnormal Small Bowel: A Case Report

Journal of Investigative Medicine High Impact Case Reports, 2020
Bartter syndrome is a rare disorder that is characterized by weakness and fatigue with laboratory findings of hypokalemia and metabolic alkalosis with increased aldosterone and angiotensin.
Philip T. Sobash MD, Krishna Vedala MD, MPH, Charles M. McClain MD, Caleb Oster DO   +3 more
doaj   +1 more source