Results 91 to 100 of about 1,812 (217)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.Whole‐exome sequencing in three Iranian families identified two novel KCNJ10 variants (p.A118T, p.Y323H) associated with seizures, ataxia, developmental delay and hearing loss without renal involvement. ABSTRACT Background Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural ...
Shayan Shakeri +4 more
wiley +1 more source
Mitochondrial disease in children : from clinical presentation to genetic background [PDF]
, 2017 Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
core +1 more source
Opportunities for renal genetic evaluation among pregnant patients with kidney disease
Pregnancy, Volume 2, Issue 2, March 2026.Abstract Objective Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with
Likhita Nandigam +7 more
wiley +1 more source
FunctionA detailed knowledge of the lipid composition of components of nephrons is crucial for understanding physiological processes and the development of kidney diseases. However, the lipidomic composition of kidney tubular segments is unknown.
Lydie Cheval +4 more
doaj +1 more source
Mutationsanalysen bei hereditären Salzverlusttubulopathien [PDF]
, 2004 Der Begriff Bartter-Syndrom stellt den historisch bedingten Sammelbegriff für einige hereditäre Tubulopathien dar, denen eine chronische hypokaliämische metabolische Alkalose gemein ist.
Ott, Henning +1 more
core +1 more source
Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani +4 more
wiley +1 more source
The serine‐threonine kinase PIM3 is an aldosterone‐regulated protein in the distal nephron
Physiological Reports, 2019 The mineralocorticoid hormone aldosterone plays a crucial role in the control of Na+ and K+ balance, blood volume, and arterial blood pressure, by acting in the aldosterone‐sensitive distal nephron (ASDN) and stimulating a complex transcriptional ...
Alessia Spirli +8 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam +7 more
wiley +1 more source
Girl with hypokaliemia and metabolic alkalosis: a case report
Zdravniški Vestnik, 2013 Background: In cases of normotensive patients, hypokalemia with metabolic alkalosis is most frequently caused by repeated vomiting or diuretics abuse, and rarely by tubulopathies, e.g., Bartter or Gitelman syndrome (GS).
Ksenja Marguč Kirn +2 more
doaj
BMC Nephrology, 2020 Background Renal loss of potassium (K+) and magnesium (Mg2+) in salt losing tubulopathies (SLT) leads to significantly reduced Quality of Life (QoL) and higher risks of cardiac arrhythmia.
Michael Eder +9 more
doaj +1 more source