Results 41 to 50 of about 1,154 (162)

Uromodulin storage diseases: clinical aspects and mechanisms. [PDF]

, 2004
The recent discovery of mutations in the uromodulin gene (UMOD) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportunity for a ...
Agre, Antonio Amoroso, Attar, Auranen, Bachmann, Bates, Bingham, Bingham, Bleyer, Bleyer, Brater, Carson, Chambers, Christodoulou, Ciechanover, Claudia Izzi, Coe, Cox, Dahan, Dahan, Doroti Pirulli, Ellgaard, Emma, Enomoto, Feather, Francesco Scolari, Fukuoka, Gian Marco Ghiggeri, Gianluca Caridi, Giorgio Casari, Gokhale, Gresh, Gusmano, Hart, Hartl, Heptinstall, Hershko, Hession, Hildebrandt, Hildebrandt, Hildebrandt, Hou, Hoyer, Huang, Jovine, Kamatani, Kaufman, Kobayashi, Kotanko, Kroiss, Kudo, Leal-Pinto, Luca Rampoldi, Maesaka, Mattey, Mayrer, McQueen, Melnick, Miyake, Mo, Nauli, Oh, Olbrich, Ong, Orskov, Otto, Otto, Pahl, Pak, Parkkinen, Pennica, Prasadan, Rampoldi, Regina Tardanico, Resnick, Rezende-Lima, Sanders, Schroter, Scolari, Scolari, Serafini-Cessi, Sharp, Simon, Stiburkova, Stiburkova, Su, Taulman, Thomas, Torffvit, Turner, Wang, Wangsiripaisan, Wilson, Wolf, Worcester, Woronik, Wu, Ying, Yoder, Yu, Zager   +100 more
core   +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

Failure to Thrive, Can this be Bartter’s Syndrome?

Journal of the Dow University of Health Sciences, 2011
A case series of four children, of different age groups, having complaints of polyuria and failure to thrive. These cases include two infants, a toddler and a child and investigations revealed that they had hyponatremia, hypokalemia, hyperchloremia and ...
Nighat Aijaz, Saira Waqar Lone, Nasrul Huda, S. Shakil Ahmed Rizvi, Abdul Gaffar Billoo   +4 more
doaj   +2 more sources

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

The diagnosis and management of patients with idiopathic osteolysis [PDF]

, 2011
Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types.
Ali Al Kaissi, Sabine Scholl-Buergi, Rainer Biedermann, Kathrin Maurer, Jochen G Hofstaetter, Klaus Klaushofer, Franz Grill   +6 more
core   +1 more source

BARTTER'S SYNDROME: A CASE REPORT OF NEPHROCALCINOSIS

Eurasian Journal of Medicine, 2019
Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically
Aves Editorial Aves Editorial
doaj  

Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia

Case Reports in Medicine, 2013
Introduction. Gitelman’s syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Madhav Desai, Praveen Kumar Kolla, P. L. Venkata Pakki Reddy   +2 more
doaj   +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

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  

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