Results 61 to 70 of about 6,714 (210)
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
Scientific Reports, 2021 Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact prevalence is unknown.
Atsushi Kondo +19 more
doaj +1 more source
ACR Open Rheumatology, Volume 8, Issue 3, March 2026.Objective The physician global assessment of lung disease (PGALD) is a recently proposed disease activity measure for patients with systemic juvenile idiopathic arthritis–associated lung disease (SJIA‐LD). This study evaluates the reliability and construct validity of the PGALD.
Eileen Rife +70 more
wiley +1 more source
Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? [PDF]
, 2017 We report on a 27-year-old patient presenting with chronic hypokalaemia, inappropriate kaliuresis, hypomagnesaemia and alkalosis, associated with moderate proteinuria.
Auberger, Ines +7 more
core
Targeted immune interventions for type 1 diabetes: not as easy as it looks! [PDF]
, 2014 PURPOSE OF REVIEW: Although insulin is lifesaving and sustaining for those with type 1 diabetes (T1D), curing the disease will be much more complex than simple replacement of this hormone.
Ehlers, Mario R., Rigby, Mark R.
core +1 more source
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia [PDF]
, 2015 Deletion of exon 9 from Cullin‐3 (CUL3, residues 403–459: CUL3Δ403–459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt).
Al Maskari, Raya S. +14 more
core +4 more sources
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
Síndrome de Bartter: evaluación del desarrollo estatural y perfil metabólico [PDF]
, 2011 OBJECTIVE: Bartter's syndrome is one of the most important inherited diseases that cause chloride leak. The objective of this study was to report the follow-up of ten patients with the syndrome.
Andrade, Maria Cristina de +4 more
core +3 more sources
Gitelman syndrome combined with complete growth hormone deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Se Ra Min +4 more
doaj +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
Egyptian Journal of Medical Human Genetics, 2022 Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis.
Melis Akpinar Gozetici +2 more
doaj +1 more source