BMC Nephrology, 2023 A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves’ disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis.
Jing Xu +5 more
doaj +1 more source
Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
core +1 more source
Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation
European Journal of Case Reports in Internal Medicine, 2021 Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter.
Maria Clara Novais de Matos +6 more
doaj +1 more source
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Nefrología (English Edition), 2017 Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña +11 more
doaj +3 more sources
A Drosophila functional evaluation of candidates from human genome-wide association studies of type 2 diabetes and related metabolic traits identifies tissue-specific roles for dHHEX [PDF]
, 2013 BACKGROUND: Genome-wide association studies (GWAS) identify regions of the genome that are associated with particular traits, but do not typically identify specific causative genetic elements.
Baranski, Thomas J +7 more
core +2 more sources
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia
BMC Nephrology, 2018 Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
Wenjun Yang +3 more
doaj +1 more source
First case of Gitelman syndrome in a child in Macau
Global Pediatrics, 2023 The first case of a child with Gitelman syndrome (GS) in Macau was analyzed. The normotensive child presented with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia and hypocalciuria. SLC12A3 gene mutation was detected.
Yan Chen +3 more
doaj +1 more source
Affinity proteomics reveals elevated muscle proteins in plasma of children with cerebral malaria [PDF]
, 2014 Systemic inflammation and sequestration of parasitized erythrocytes are central processes in the pathophysiology of severe Plasmodium falciparum childhood malaria. However, it is still not understood why some children are more at risks to develop malaria
Afolabi, Nathaniel K. +19 more
core +3 more sources
Molecular complexity analysis of the diagnosis of Gitelman syndrome in China
Open Life Sciences, 2023 Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride ...
Song Wei +5 more
doaj +1 more source
Renal and Blood Pressure Response to a High-Salt Diet in Mice With Reduced Global Expression of the Glucocorticoid Receptor [PDF]
, 2018 Salt-sensitive hypertension is common in glucocorticoid excess. Glucocorticoid resistance also presents with hypercortisolemia and hypertension but the relationship between salt intake and blood pressure (BP) is not well defined.
Ackermann +53 more
core +3 more sources