Results 71 to 80 of about 2,349 (166)

A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia

BMC Nephrology, 2018
Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
Wenjun Yang, Shaoli Zhao, Yanhong Xie, Zhaohui Mo   +3 more
doaj   +1 more source

Gitelman Syndrome Diagnosed in a Woman in the Second Trimester of Pregnancy

European Journal of Case Reports in Internal Medicine, 2019
Gitelman syndrome is a rare renal tubule disease characterized by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and normal blood pressure.
Sila Çetik, Nursel Calik Basaran, Lale Ozisik, Serife Gul Oz, Mustafa Arici   +4 more
doaj   +1 more source

Hypokalemic paralysis due to primary hyperaldosteronism simulating gitelman′s syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2009
Some diseases, such as Gitelman′s syndrome, Bartter′s syndrome, and primary hyperaldosteronism (Conn′s syndrome), may bear some similar clinical and laboratory findings.
Kasifoglu Timucin, Akalin Aysen, Cansu Dondu, Korkmaz Cengiz   +3 more
doaj  

POEMS- A Diagnostic Odyssey

Online Journal of Health & Allied Sciences, 2021
POEMS syndrome is a rare multisystem paraneoplastic disease that manifests with a spectrum of symptoms namely peripheral neuropathy (P), organomegaly (O), endocrinopathy (E) monoclonal plasma-cells proliferative disorder (M) and skin changes (S).
Cynthia Amrutha Sukumar, Sumanth Madan, Shipra Rai, Kavitha Saravu   +3 more
doaj  

Gitelman's Syndrome with Mental Retardation

Internal Medicine, 2006
A 56-year-old mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS).
Morita, Rena, Takeuchi, Kaoru, Nakamura, Akinobu, Tajima, Toshihiro, Kuroda, Yoshihiko   +4 more
openaire   +3 more sources

A Case of Gitelman's Syndrome with Chondrocalcinosis.

Endocrine Journal, 1998
A 45-year-old Japanese woman, treated for Bartter's syndrome for 14 years, presented with complaints of numbness in her extremities and polyarthralgia. She was diagnosed to have Gitelman's syndrome with chondrocalcinosis, which were effectively treated with spironolactone and magnesium supplementation.
HISAKAWA, NAOKO, YASUOKA, NOBUKAZU, ITOH, HIROYUKI, TAKAO, TOSHIHIRO, JINNOUCHI, CHISA, NISHIYA, KOJI, HASHIMOTO, KOZO   +6 more
openaire   +3 more sources

Chemotherapy-induced tubulopathy: a case report series

Frontiers in Nephrology
Acquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez, Juan Daniel Diaz Garcia, Valeria Yanez Salguero, Fleuvier Morales Lopez, Victor Ulloa Galvan, Francisco Velasco Garcia-Lascurain, Benjamin Yama Estrella   +6 more
doaj   +1 more source

Late‐Breaking Abstract Presentations

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Young Female, Fatigue, Hypokalemia, Hyperglycemia

Xiehe Yixue Zazhi
We report a case of a young female patient with fatigue, hypokalemia, and hyperglycemia. She had past-history of diabetes mellitus, and was admitted to hospital with a history of fatigue and hypokalemia for 5 years.
CHEN Rong, WANG Xi, SONG An, WANG Jiajia, LI Wei, CHEN Shi, XING Xiaoping   +6 more
doaj   +1 more source

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