Results 51 to 60 of about 1,154 (162)

Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani, Alireza Rezapanah, Tooraj Zandbaf, Mohammad Javad Ghamari, Narges Mesbah   +4 more
wiley   +1 more source

Clinical and molecular features of thiazide-induced hyponatremia [PDF]

, 2018
Hypertension affects more than 30% of the world’s adult population and thiazide (and thiazide-like) diuretics are amongst the most widely used, effective and least costly treatments available, with all-cause mortality benefits equivalent to ACE ...
Channavajjhala, Sarath K., Clayton, Jenny, Glover, Mark, Hall, Ian P., Jia, Wenjing, Nadal, Jodie   +5 more
core   +2 more sources

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

Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients [PDF]

, 2018
Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe,
Bettinelli, Alberto, Bianchetti, Mario, Caiata-Zufferey, Maria, Cortesi, Cinzia, Giannini, Olivier, Lava, Sebastiano, Tammaro, Fabiana   +6 more
core  

MAL/VIP17, a new player in the regulation of NKCC2 in the kidney [PDF]

, 2010
The renal-specific Na+-K+-2Cl- cotransporter (NKCC2) is the major salt transport pathway of the apical membrane of the mammalian thick ascending limb of Henle's loop.
Basco, Davide, Caplan, Michael J., Carmosino, Monica, Forbush, Biff, Procino, Giuseppe, Rizzo, Federica, Schaeren-Wiemers, Nicole, Svelto, Maria, Valenti, Giovanna   +8 more
core   +2 more sources

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
ABSTRACT The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system.
Edward S. A. van Beelen, Wouter H. van der Valk, John C. M. J. de Groot, Peter Paul G. van Benthem, Heiko Locher   +4 more
wiley   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +1 more source

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia

Frontiers in Endocrinology, 2018
The human calcium-sensing receptor (CASR) is the key controller of extracellular Cao2+ homeostasis, and different mutations in the CASR gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe ...
Anne Qvist Rasmussen, Niklas Rye Jørgensen, Niklas Rye Jørgensen, Peter Schwarz, Peter Schwarz   +4 more
doaj   +1 more source

Midterm Outcome of AB0 Incompatible Kidney Transplantation in Children and Adolescents—A Single Center Experience

Pediatric Transplantation, Volume 30, Issue 1, January 2026.
AB0‐incompatible kidney transplantation in children can be performed with excellent results. Midterm outcome of AB0 incompatible KTx was not inferior to that of AB0 compatible KTx. Graft survival and graft function were comparably good in both groups. There was no increase in infectious complications or malignancies with AB0i KTx.
Christina Taylan, Sabine I. Mückenhausen, Lutz T. Weber, Dirk L. Stippel, Julia Thumfart   +4 more
wiley   +1 more source

Molecular Characterization of A Novel Mutation In The Renal NaCl Cotransporter Causing Gitelman's Syndrome By Impairing Transporter Trafficking [PDF]

, 2017
Mutations affecting the sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the nephron are causative of Gitelman's syndrome (GS), a rare autosomal recessive disease characterized by electrolytic alterations similar to those induced by
Ravarotto, Verdiana
core   +1 more source