Results 71 to 80 of about 3,080 (230)

Neonatal presentation of a patient with Liddle syndrome, South Africa

African Journal of Laboratory Medicine, 2023
Introduction: Liddle syndrome is an autosomal dominantly inherited disorder usually arising from single mutations of the genes that encode for the alpha, beta and gamma epithelial sodium channel (ENaC) subunits.
Nicolene Steyn, Bettina Chale-Matsau, Aron B. Abera, Gertruida van Biljon, Tahir S. Pillay   +4 more
doaj   +1 more source

Pseudohypoaldosteronisms, report on a 10-patient series [PDF]

, 2017
Background. Type 1 pseudohypoaldosteronism (PHA1) is a salt-wasting syndrome caused by mineralocorticoid resistance. Autosomal recessive and dominant hereditary forms are caused by Epithelial Na Channel and Mineralocorticoid Receptor mutation ...
Belot, Alexandre, Cochat, Pierre, Fichtner, Christine, Liutkus, Aurélia, Morlat, Claud, Nicolino, Marc, Pujo, Lucie, Ranchin, Bruno, Rossier, Bernard C., Zennaro, Maria C.   +9 more
core  

Case Reports : Topiramate, a concealed cause of severe metabolic acidosis [PDF]

, 2017
Severe metabolic acidosis is common among critically ill patients, and topiramate is a rare cause that may fail recognition. We report a lady with acute encephalopathy who had severe non-anion gap metabolic acidosis that served as the clue leading to ...
Lovinger, Daniel, Ludwig, Kyle, Regunath, Hariharan, Schroeder, Ryan   +3 more
core   +1 more source

Effects of in vitro potassium on ammoniagenesis in rat and canine kidney tissue [PDF]

, 1912
Effects of in vitro potassium on ammoniagenesis in rat and canine kidney tissue. Decreased ammonium (NH4+) excretion is associated with hyperkalemia.
Raymond S. Sleeper, Pierre Belanger, Guy Lemieux, Harry G. Preuss, Szylman, Hulter, Tannen, Kamm, Schwartz, Iacobellis, Iacobellis, Tannen, Tannen, Cartier, Preuss, Weiss, Preuss, Williamson, Oye, Meiss, Pilkington, Roxe, Preuss, Preuss, Preuss, Preuss, Leutscher, Conn, Milne, Schloeder, Sapir, Pagliara, Kamm, Sleeper, Chester, Sastrasinh, Vinay, Pitts, Lemieux, Lamar, Krebs, Braunstein, Bendal, Quagliariello, Preuss, Pitts, Kovacevic, Crompton, Relman, Lemieux, Bogusky, Tannen, Preuss, Preuss, Black, Clarke, Anderson, Bavarel, Cross, Preuss, Reimer   +60 more
core   +1 more source

Associations of Genetic Variations in the NR3C2 With Salt Sensitivity, Longitudinal Blood Pressure Changes, and Incidence of Hypertension in Chinese Adults

The Journal of Clinical Hypertension, Volume 27, Issue 9, September 2025.
ABSTRACT Nuclear receptor subfamily 3 group C member 2 (NR3C2) encodes the mineralocorticoid receptor (MR), which plays a pivotal role in the regulation of electrolyte and fluid homeostasis by mediating the physiological actions of mineralocorticoids, primarily aldosterone.
Lan Wang, Ming‐Ke Chang, Xue‐Mei Yue, Yan‐Jie Guo, Yan‐Ni Yao, Nai‐Rong Liu, Bei‐Bei Yang, Ze‐Jiaxin Niu, Wei‐Hua Gao, Hao Li, Yang Wang   +10 more
wiley   +1 more source

Liddle’s-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report

BMC Nephrology, 2018
Background Liddle’s syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits.
Eriko Yamaguchi, Kazuhiro Yoshikawa, Izaya Nakaya, Karen Kato, Yoshikazu Miyasato, Terumasa Nakagawa, Yutaka Kakizoe, Masashi Mukoyama, Jun Soma   +8 more
doaj   +1 more source

Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND‐1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT RMND1‐related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney‐related conditions that have a high degree ...
Quinn Stein, Ryan Mascarenhas, Sumit Punj, Maggie Westemeyer, Emily Hendricks, Tessa Pitman, Meg Hager, Nour Al Haj Baddar, Kristen Connors, Alexa Bacher, Robin Larson, Lauren Zec, Jennifer Stoddard   +12 more
wiley   +1 more source

Primary adrenal lymphoma causing hypoaldosteronism in a cat

Journal of Feline Medicine and Surgery Open Reports, 2016
Case summary A 10-year-old, 5.1 kg (11.2 lb), male castrated cat was presented with signs of lethargy and decreased appetite at home after being previously healthy. Serum biochemical analysis identified normokalemia (5.1 mmol/l; reference interval [RI] 3.
Jessica F Romine, Angela R Kozicki, Marc S Elie   +2 more
doaj   +1 more source

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

JCRPE
Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis.
Mark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, Peter Lauffer, Merijn W. Bijlsma, Hedi L. Claahsen-van der Grinten, Nicole de Leeuw, Martijn J.J. Finken, Joost Rotteveel, Nitash Zwaveling-Soonawala, Max Nieuwdorp, A.S. Paul van Trotsenburg, Christiaan F. Mooij   +12 more
doaj   +1 more source

Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura [PDF]

, 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which
Dias-da-Silva, Magnus Régios, Lazaretti-Castro, Marise, Weiler, Fernanda Guimarães   +2 more
core   +2 more sources