Results 31 to 40 of about 762 (149)

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

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]

, 2019
BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli, A Garcia Castano, A Sanei-Moghaddam, A Shibli Al, Anoush Azarfar, CM Bates, DB Simon, DB Simon, DB Simon, Dor Mohammad Kordi-Tamandani, Ehsan Ghayoor Karimiani, F Tinsa, Farkhondeh Behjati, FC Bartter, G Morineau, G Vilotijevic-Dautovic, H Blons, H Saneian, HJ Gitelman, I Kurtz, I Pela, I Zelikovic, I Zelikovic, Isabel Schüle, J Souza-Menezes, JJ Gorgojo, JL Wemeau, K Kosicka, K Laghmani, K Nozu, M Konrad, M Soleimani, M Yau, Maryam Najafi, Miriam Schmidts, MJ Galaviz-Ballesteros, MJ McGinniss, MM Dahabreh, N Kandasamy, ND Rendtorff, O Eğrıtaş, P Hoglund, R Birkenhäger, S Baumner, S Makela, S Watanabe, Simin Sadeghi-Bojd, W Reardon, YF Guo, Zeineb Bakey   +49 more
core   +3 more sources

Adult‐Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Bartter syndrome (BS) is a rare autosomal recessive salt‐wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism without hypertension. It usually presents in childhood; however, adult‐onset cases are infrequent and often misdiagnosed.
Muhammad Asif, Ayesha Sanam, Muhammad Ilyas, Sawera Tahir, Tahir Hanif, Muddassir Khalid, Iqra Sarwar, Fred Segawa   +7 more
wiley   +1 more source

Reliability and Construct Validity of the Physician's Global Assessment of Lung Disease in Systemic Juvenile Idiopathic Arthritis–Associated Lung Disease

ACR Open Rheumatology, Volume 8, Issue 3, March 2026.
Objective The physician global assessment of lung disease (PGALD) is a recently proposed disease activity measure for patients with systemic juvenile idiopathic arthritis–associated lung disease (SJIA‐LD). This study evaluates the reliability and construct validity of the PGALD.
Eileen Rife, Guihua Zhai, Mekibib Altaye, Jennifer Andringa, Hermine I. Brunner, Scott Canna, Lauren A. Henderson, Yukiko Kimura, Scott M. Lieberman, Mona Riskalla, Christopher Towe, Tiphanie Vogel, Holly Wobma, Grant Schulert, for the PGALD Validation Consortium Investigators, Rabheh Abdul Aziz, Sheila Angeles‐Han, Kevin Baszis, Edward Behrens, Hermine I. Brunner, Gregory Burg, Scott Canna, Alicia Casey, Matthew Clark, Dominic Co, Kathleen Collins, Randy Cron, Marietta DeGuzman, Fatma Dedeoglu, Robin Deterding, Barbara Eberhard, Deanna Green, Timothy Hahn, Daniel M. Hinds, Patricia Hobday, Sandy Hong, Aimee Hersh, Jennifer Huggins, Yukiko Kimura, Susan Kim, Marisa Klein‐Gitelman, Daniel Lovell, Patricia Lu, Melissa Mannion, Jessica Neely, Michael O'Connor, Karen Onel, Amir Orandi, Andrea Ramirez, Adam Reinhard, Mona Riskalla, Steven Rose, Kristen Ruff, Laisa Santiago, Vivian Saper, Susan Shenoi, Manuel Silva‐Carmona, Emily Smitherman, David R. Spielberg, Jade Tam‐Williams, Christopher Towe, Tracy Ting, Fernando Urrego, Timothy Vece, Tiphanie Vogel, Jennifer Weiss, Holly Wobma, Lauren A. Henderson, Scott M. Lieberman, Julian Vyas, Lisa Young   +70 more
wiley   +1 more source

Chondrocalcinosis and osteoporosis in a patient with renal tubular disorder [PDF]

, 2003
We report the case of a 50-year old male patient presenting with a combination of chondrocalcinosis and osteoporosis related to a renal tubular disorder.
Ambühl, Patrice M., Hansen, Torsten, Kyburz, Diego, Michel, Beat A.   +3 more
core  

Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]

, 2017
Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E, Bienias, M, Bockenhauer, D, Iancu, D, Jenkins, L, Kleta, R, Tse, Y, van't Hoff, W, Walsh, PR   +8 more
core   +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

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

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

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source