Results 61 to 70 of about 2,349 (166)

Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association

Case Reports in Pediatrics, 2021
Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described.
Valeria Calcaterra, Giulia Roberto, Anna La Rocca, Beatrice Andrenacci, Federico Rossi, Gian Vincenzo Zuccotti, Valentina Fabiano   +6 more
doaj   +1 more source

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

Gitelman syndrome [PDF]

BMJ, 2012
Peter G, Park, Fiona E, Karet Frankl
openaire   +3 more sources

Gitelman Syndrome [PDF]

Hypertension, 2009
Mattias, Roser, Nermin, Eibl, Birgit, Eisenhaber, Jasmin, Seringer, Mato, Nagel, Sylvia, Nagorka, Friedrich C, Luft, Ulrich, Frei, Maik, Gollasch   +8 more
openaire   +3 more sources

A Rare Cause of Gitelman Syndrome: Celiac Disease: An Interesting Case

Turkish Journal of Nephrology, 2019
Gitelman syndrome is an autosomal recessive tubulopathy that is characterized by metabolic alkalosis, hypomagnesemia, hypocalciuria, secondary hyperreninemic hyperaldosteronism and low blood pressure.
Simge BARDAK, Kenan TURGUTALP, Çağatay ÇAVUŞOĞLU, Ayşegül ÖZDOĞAN, Eda MERMİ, Tolga KÖŞECİ, Ahmet KIYKIM   +6 more
doaj  

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

A successful pregnancy for a young hypothyroid woman with Gitelman Syndrome: A rare case study report

Caspian Journal of Reproductive Medicine, 2017
It is widely assumed that Gitelman syndrome is a rare genetic disorder with such electrolyte imbalance as hypokalemia and hypomagnesaemia. The impact of hypothyroidism on Gitelman syndrome and its management is not clear.
zahra kashi, Adele Bahar, Marjan Mouodi, Ozra Akha   +3 more
doaj  

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

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

A Rare Case of Bartter Syndrome Type 3 Diagnosed in Elderly Age

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Bartter syndrome (BS) type 3 typically presents in childhood and is caused by defects in NaCl transporters of the thick ascending limb of the loop of Henle. We report a 66‐year‐old woman with asymptomatic but severe hypokalemia (2.0 mmol/L), metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Tsuyoshi Okura, Kenji Fukaya, Tetsuya Okazaki, Kaori Adachi, Yoshiharu Kinugasa, Masaru Kato, Kalyani Sen   +6 more
wiley   +1 more source