Results 71 to 80 of about 2,061,243 (253)

Masks of Schwartz-Bartter Syndrome clinical pictures: a case report

Ожирение и метаболизм, 2008
Schwartz-Bartter Syndrome (synonyms: syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate secretion of vasopressin, anti-diabetes insipidus) - this is a rare disease characterized by excessive secretion of antidiuretic ...
E A Pigarova, L K Dzeranova, L Ya Rozhinskaya   +2 more
doaj   +1 more source

Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy

BMJ Case Reports, 2020
Classic Bartter syndrome is a rare condition caused by mutations in the CLCNKB gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism.
B. T. Le, C. M. Duong, Tien Q. Nguyen, C. Bui   +3 more
semanticscholar   +1 more source

Correcting hypokalaemia in a paediatric patient with Bartter syndrome through oral dose of potassium chloride intravenous solution

SAGE Open Medical Case Reports, 2021
Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalaemia. Hypokalaemia is defined as low serum potassium concentration ˂3.5 mmol/L, which may lead to arrhythmia and death if left untreated.
Salman Alasfour, Haya S Alfailakawi, Yousif A Shamsaldeen   +2 more
doaj   +1 more source

Juxtaglomerular apparatus hyperplasia under dual angiotensin blockade. A footprint of adequate RAS inhibition or a concern for renal fibrosis? [PDF]

, 2012
Background: Dual renin-angiotensin system blockade with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers has been advocated to minimize proteinuria. However, recent trials have questioned the renal safety of this approach.
Barat, Antonio, Egido, Jesús, Fernández-Fernández, Beatriz, Gómez-Guerrero, Carmen, Martín-Cleary, Catalina, Ortíz, Alberto   +5 more
core   +4 more sources

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
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

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad   +2 more
wiley   +1 more source

Pseudo‐Bartter syndrome in children with cystic fibrosis

Clinical Case Reports, 2019
Cystic fibrosis (CF) is an autosomal recessive genetic disorder. We report a case of a boy aged 4.5 years with cystic fibrosis, presenting under‐weightness, hypocalcemia, metabolic alkalosis, hypokalemia, and hyponatremia.
Mojgan Faraji-Goodarzi
semanticscholar   +1 more source

Long-term follow-up of patients with Bartter syndrome type I and II [PDF]

, 2017
Background. Little information is available on a long-term follow-up in Bartter syndrome type I and II. Methods. Clinical presentation, treatment and long-term follow-up (5.0-21, median 11years) were evaluated in 15 Italian patients with homozygous (n ...
Bettinelli, Alberto, Bianchetti, Mario G., Borsa, Nicolò, Mattiello, Camilla, Puricelli, Elena, Sironi, Francesca, Tammaro, Fabiana, Tedeschi, Silvana   +7 more
core  

Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]

, 2010
Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel, Dias-da-Silva, Magnus Régios, Fujikawa, Aline M., Kunii, Ilda S., Lindsey, Susan C., Maciel, Rui Monteiro de Barros, Rolim, Ana Luiza R., Soares, Fernando de Almeida   +7 more
core   +2 more sources

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
ABSTRACT The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system.
Edward S. A. van Beelen, Wouter H. van der Valk, John C. M. J. de Groot, Peter Paul G. van Benthem, Heiko Locher   +4 more
wiley   +1 more source