Results 51 to 60 of about 3,390 (167)

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

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

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

Adult presentation of Bartter syndrome type IV with erythrocytosis

Einstein (São Paulo)
Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the ...
Ita Pfeferman Heilberg, Cláudia Tótoli, Joaquim Tomaz Calado   +2 more
doaj   +1 more source

Although myeloid‐cell RGS2 knockout does not affect Ang II–induced hypertension/organ damage in mice, high RGS2 in Gitelman/Bartter syndromes—human models of endogenous Ang II signaling antagonism—is associated with hypotensive/antiremodeling effects

Physiological Reports, Volume 14, Issue 18, September 2026.
Lorenzo A. Calò, Martina Cacciapuoti, Paul A. Davis   +2 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

Metabolic alkalosis with multiple salt unbalance: an atypical onset of cystic fibrosis in a child

Journal of Pediatric and Neonatal Individualized Medicine, 2017
Dehydration with multiple salt abnormalities is frequently encountered in the paediatric emergency department, during acute illnesses complicated by loss of body fluids. Metabolic alkalosis is not a common finding in dehydrated children.
Dimitri Poddighe, Lucia Castelli, Elena Virginia Comi, Ilaria Brambilla, Paola Bruni   +4 more
doaj   +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

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad   +2 more
wiley   +1 more source

Acquired Bartter Syndrome in Primary Sjögren Syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2020
Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj, Mounira El Euch, Fatima Jaziri, Asma Kefi, Khaoula Ben Abdelghani, Sami Turki, Taieb Ben Abdallah   +6 more
doaj   +1 more source