Results 51 to 60 of about 725 (179)

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

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  

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

The WNK-SPAK/OSR1 pathway: master regulator of cation-chloride cotransporters [PDF]

, 2014
This is the author accepted manuscript. The final version is available from the publisher via the DOI in this recordThe WNK-SPAK/OSR1 kinase complex is composed of the kinases WNK (with no lysine) and SPAK (SPS1-related proline/alanine-rich kinase) or ...
Alessi, DR, Hochdörfer, T, Kahle, KT, Khanna, A, Shang, Y, Zhang, J   +5 more
core   +1 more source

Acceptable standards for clinic‐based digital cognitive assessments: Recommendations from the Global CEO Initiative on Alzheimer's Disease

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract The rising prevalence of mild cognitive impairment (MCI) and dementia, combined with persistent underdiagnosis, is driving an increased need for scalable cognitive assessment tools. Digital cognitive assessments (DCAs) offer a promising solution by addressing longstanding barriers to routine cognitive testing and diagnosis. However, variations
Louisa I. Thompson, Barak Gaster, Dustin B. Hammers, Sol Fittipaldi, A. M. Barrett, Katherine A. Partrick, Emily Scholler, Benjamin Tiede, Christopher R. Butler, the CEOi Digital Cognitive Assessment Workgroup   +9 more
wiley   +1 more source

Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the CLDN16 and CLDN19 genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract ...
Abdullah Al Noman Bhuiyan, Nazia Akter, Tahniyah Haq, Md. Fariduddin, Shahjada Selim   +4 more
wiley   +1 more source

Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin‐16 or Claudin‐19 genes. It is characterized by renal wasting of calcium and magnesium, bilateral nephrocalcinosis, and progression to kidney failure eventually.
Rummana Tazia Tonny, Farhana Akter Mumu, Shanjida Sharmim, Syed Saimul Huque   +3 more
wiley   +1 more source

Gitelman’s syndrome presented with tetany: a case report

IMC Journal of Medical Science, 2012
Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’
Md. Zahid Alam, AMB Safdar, Shabnam Jahan Hoque, Rownak Jahan Tamanna, Rowsan Ara, MM Zahurul Alam Khan   +5 more
doaj  

Functional assessment of sodium chloride cotransporter NCC mutants in polarized mammalian epithelial cells. [PDF]

, 2017
The thiazide-sensitive sodium chloride cotransporter NCC is important for maintaining serum sodium (Na(+)) and, indirectly, serum potassium (K(+)) levels.
Fenton, R.A., MacAulay, N., Rizzo, F., Rosenbaek, L.L., Staub, O.   +4 more
core   +1 more source

The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa‐let‐7d‐3p

The FASEB Journal, Volume 39, Issue 21, 15 November 2025.
This study identifies differentially expressed miRNAs in urinary extracellular vesicles and kidney biopsies from Gitelman syndrome patients. In particular, hsa‐let‐7d‐3p is the only upregulated miRNA that negatively regulates NEDD4L, a key modulator of sodium transport.
Chao‐Ting Chen, Shih‐Hua Lin, Min‐Hsiu Chen, Hsin‐Yi Chang, Min‐Hua Tseng, Yii‐Jwu Lo, Kuan‐Chieh Peng, Che‐Chung Huang, Chih‐Chien Sung   +8 more
wiley   +1 more source