Results 41 to 50 of about 3,390 (167)

A CASE OF ADULT VARIANT BARTTER SYNDROME

Pakistan Armed Forces Medical Journal, 2018
Bartter syndrome was first described in an article by Bartter et al in 1962 [1]. Bartter syndrome is a rare genetic disease characterized by hypokalemia, alkalosis, and normal to low blood pressure.
Sami Ullah, Malik Nadeem Azam, Zubair Waheed Khan, , Syed Muhammad Hassan Akhtar   +3 more
doaj   +2 more sources

Case Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant

Frontiers in Pediatrics, 2023
Variants in the MAGED2 may cause antenatal transient Bartter syndrome, which is characterised by polyhydramnios, preterm labour, postnatal polyuria, hypokalaemia and metabolic alkalosis.
Hongyuan Yang, Zhiyong Liu, Yaying Wu, Jinglin Xu, Ying He, Ruiquan Wang, Weifeng Zhang, Dongmei Chen   +7 more
doaj   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Prostaglandins and Bartter's syndrome

Kidney International, 1981
A 46-year-old woman was admitted to the metabolic ward of New England Medical Center Hospital (NEMCH) for evaluation of hypokalemia and metabolic alkalosis. The patient was in good health until four months earlier, when preoperative determination of serum electrolytes disclosed a serum potassium concentration of 3.0 mEq/liter and a bicarbonate ...
openaire   +2 more sources

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

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

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, Volume 183, Issue 10, Page 2197-2218, May 2026.
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

An infant with poor weight gain and hypochloremic metabolic alkalosis: a case report

International Journal of General Medicine, 2014
Ahmed H Alhammadi, Mohamed Khalifa, Lolwa Alnaimi Department of Pediatrics, Division of General Pediatrics, Hamad Medical Corporation, Doha, Qatar Abstract: Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport ...
Alhammadi AH, Khalifa M, Alnaimi L
doaj