Results 51 to 60 of about 3,169 (170)
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 +2 more
doaj +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 +2 more
wiley +1 more source
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 +4 more
wiley +1 more source
Adult presentation of Bartter syndrome type IV with erythrocytosis
Einstein (São Paulo)Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the ...
Ita Pfeferman Heilberg +2 more
doaj +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
Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng +9 more
wiley +1 more source
Metabolic alkalosis with multiple salt unbalance: an atypical onset of cystic fibrosis in a child
Journal of Pediatric and Neonatal Individualized Medicine, 2017 Dehydration with multiple salt abnormalities is frequently encountered in the paediatric emergency department, during acute illnesses complicated by loss of body fluids. Metabolic alkalosis is not a common finding in dehydrated children.
Dimitri Poddighe +4 more
doaj +1 more source
Pediatric Transplantation, Volume 30, Issue 1, January 2026.AB0‐incompatible kidney transplantation in children can be performed with excellent results. Midterm outcome of AB0 incompatible KTx was not inferior to that of AB0 compatible KTx. Graft survival and graft function were comparably good in both groups. There was no increase in infectious complications or malignancies with AB0i KTx.
Christina Taylan +4 more
wiley +1 more source
Management of isolated abnormal amniotic fluid volume in pregnancy
The Obstetrician &Gynaecologist, Volume 28, Issue 1, Page 41-50, January 2026.Key content Amniotic fluid volume (AFV) is a vital measurement in the determination of fetal well‐being by means of ultrasound. There are many factors that determine AFV and, in many cases, complications affecting the fetus may manifest through change in its value.
Abigail O. Falola +3 more
wiley +1 more source
Acquired Bartter Syndrome in Primary Sjögren Syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj +6 more
doaj +1 more source