Results 41 to 50 of about 2,349 (166)

Proximal Weakness and Hypokalemia in a Pregnant Woman: The First Presentation of Gitelman Syndrome

Case Reports in Clinical Practice, 2020
Gitelman syndrome is an inherited disorder of kidney function characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its first presentation during pregnancy might be a challenging diagnostic and management issue, as there is little data ...
Mohammad Taghi Najafi, Azam Alamdari, Pouya Mahdavi Sharif, Neda Naderi   +3 more
doaj   +1 more source

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Bartter syndrome is a rare autosomal recessive renal tubulopathy, which classically presents with hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism. We report an atypical presentation in a 16‐year‐old male who was diagnosed following an initial manifestation of acute pancreatitis.
Noor Ayaz, Matti Ullah, Waqar Ahmad, Farhan Ullah, Ikram Ullah Khan, Fahad Naim, Awais Naeem, Fatima Sajjad, Kamil Ahmad Kamil   +8 more
wiley   +1 more source

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

Scientific Reports, 2021
Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact prevalence is unknown.
Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu   +19 more
doaj   +1 more source

Bushen Huatan Formula Ameliorates Early Chronic Low‐Grade Inflammation in Obese PCOS Via the TLR4/NF‐κB Signaling Pathway: An Integrated Network Pharmacology and Experimental Study

Immunity, Inflammation and Disease, Volume 14, Issue 9, September 2026.
ABSTRACT Objective This study used an integrated network pharmacology and experimental strategy to investigate how Bushen Huatan Formula (BHF) mitigates early‐stage chronic low‐grade inflammation in obese polycystic ovary syndrome (PCOS). Methods Candidate components and targets of BHF were retrieved from the TCMSP database, and protein–protein ...
Jianing Zhang, Fangyun Gu, Yunyun Li, Xiaoling Feng, Hongying Kuang, Fang Xu, Miao Sun   +6 more
wiley   +1 more source

Bartter and Gitelman syndromes: Questions of class [PDF]

Pediatric Nephrology, 2019
AbstractBartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT).
Martine T. P. Besouw, Robert Kleta, Detlef Bockenhauer   +2 more
openaire   +3 more sources

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene

BMC Nephrology, 2018
Background Gitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go ...
Qin Chen, Yaqin Wu, Jingya Zhao, Ying Jia, Wei Wang   +4 more
doaj   +1 more source

Gitelman syndrome combined with complete growth hormone deficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Se Ra Min, Hyun Seok Cho, Jeana Hong, Hae Il Cheong, Sung Yeon Ahn   +4 more
doaj   +1 more source

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb‐Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome

Acta Physiologica, Volume 242, Issue 9, September 2026.
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Marleen L. A. Kortenoeven, Milos Bogdanovic, Ida Appel, Karsten Skjødt, Ernst‐Martin Fuchtbauer, Kirsten Madsen, Lars Lund, Régine Chambrey, Dominique Eladari, R. Todd Alexander, Christian A. Hübner, J. Christopher Hennings, Henrik Dimke   +12 more
wiley   +1 more source

Gitelman Syndrome

Journal of Medicine, 1970
Gitleman syndrome is a rare entity. It is a benign disorder that can present with many metabolic derangements. Here we report a patient presenting with recurrent episodes of muscle weakness, muscle cramps that was diagnosed as a cas of Gitlemans syndrome.
Minhaj Rahim Choudhury, M. Masudul Hassan, Md Mahbub Hossain   +2 more
openaire   +2 more sources