Results 31 to 40 of about 3,169 (170)

Síndrome de bartter: uma nova abordagem terapêutica.

Acta Médica Portuguesa, 2011
The Bartter syndrome is a rare hereditary salt-wasting tubulopathy, characterized by metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia of varying severity.
Marta Mendonça, Adriana Pinheiro, Isabel Castro   +2 more
doaj   +1 more source

Anesthetic management of a patient with Bartter′s syndrome undergoing bilateral sagittal split osteotomy

Saudi Journal of Anaesthesia, 2012
Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes.
Nasser Nooh, Walid Abdullah, Saad Sheta
doaj   +1 more source

Bartter syndrome with long-term follow-up: a case report

Journal of International Medical Research, 2020
Bartter syndrome is a rare inherited disease caused by CLCNKB mutation, which results in inactivation of the chloride channel Kb protein. Bartter syndrome is characterized by extreme hypokalemia, hypochloremia, metabolic alkalosis, hyperrenin-induced ...
Xueling Wu, Gang Yang, Shiyu Chen, Min Tang, Shan Jian, Fuhui Chen, Xiulin Wu   +6 more
doaj   +1 more source

Bartter Syndrome Presenting with Torsade De Pointes: A Rare Manifestation

Journal of Clinical and Preventive Cardiology
Bartter syndrome is a rare autosomal recessive disorder involving the renal tubules, resulting in defective salt reabsorption and renal salt wasting. There are five types of Bartter syndrome, which affect different parts of the renal tubules.
Mohan Prasad Akkineni, Krishna Prasad Akkineni, Goutam Kintada   +2 more
doaj   +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

Balancing Benefits and Risks of Indomethacin in the Management of Antenatal Bartter Syndrome: A Case Report

Frontiers in Medicine, 2022
BackgroundBartter syndrome, a very rare inherited renal tubular disorder, characterized by urinary salt wastage, hypokalemia, polyuria, and metabolic alkalosis, may manifest antenatally as severe isolated polyhydramnios.
Omar Ala' Alajjuri, Mayar Essam Samaha, Ulrich Honemeyer, Ghada Mohammed, Noha A. Mousa   +4 more
doaj   +1 more source

Home Parenteral Support in Severe Gitelman Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Gitelman syndrome (GS), also known as familial hypokalaemia‐hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this ...
Georgia Martin, Ibrahim Fahal, Shameer Mehta   +2 more
wiley   +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

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 771-779, May 2026.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source