Results 41 to 50 of about 2,424,136 (181)

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

The American journal of case reports, 2020
Patient: Male, 31-year-old Final Diagnosis: Bartter syndrome Symptoms: Weakness Medication: — Clinical Procedure: — Specialty: Genetics • Nephrology Objective: Unusual clinical course Background: Bartter syndrome is a rare genetic disease characterized ...
Khaled A. Elfert, D. Geller, C. Nelson-Williams, R. Lifton, Hassan Al-Malki, A. Nauman   +5 more
semanticscholar   +1 more source

Unusual Complication of Multidrug Resistant Tuberculosis

Case Reports in Nephrology, 2017
Introduction. Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides.
Prerna Sharma, Ravindra Nath Sahay
doaj   +1 more source

Bartter Syndrome Represented by Recurrent Hypokalemia Attacks: A Case Report

Southern Clinics of Istanbul Eurasia, 2017
Bartter syndrome is a tubular disorder and characterized with hypokalemia, hypokalemic metabolic alkalosis, hyperreninemia, normal blood pressure, increased loss of urinary sodium, potassium and chloride.
Nuran Küçük, Esra Çelik Kuzaytepe, Esma Esmi, Şerife Dülger, Gökşen Erkin   +4 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

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

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

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, EarlyView.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

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

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

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