Emerging key roles for P2X receptors in the kidney [PDF]
Frontiers in Physiology, 2013 P2X ionotropic non-selective cation channels are expressed throughout the kidney and are activated in a paracrine or autocrine manner following the binding of extracellular ATP and related extracellular nucleotides.
Scott S Wildman
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Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases. [PDF]
Mol Genet Metab, 2023 Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney disease are numerous, extending from common disease groups like diabetes and arterial hypertension to rare conditions including inherited metabolic diseases ...
Schumann A +3 more
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Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report
Revista Portuguesa de Nefrologia e Hipertensão, 2023 Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA).
Pedro Lisboa-Gonçalves +3 more
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Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
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Ammonia toxicity: from head to toe? [PDF]
, 2016 Ammonia is diffused and transported across all plasma membranes. This entails that hyperammonemia leads to an increase in ammonia in all organs and tissues.
Dasarathy, Srinivasan +6 more
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PPARα contributes to protection against metabolic and inflammatory derangements associated with acute kidney injury in experimental sepsis [PDF]
, 2019 Sepsis‐associated acute kidney injury (AKI) is a significant problem in critically ill children and adults resulting in increased morbidity and mortality. Fundamental mechanisms contributing to sepsis‐associated AKI are poorly understood.
Bennion, Brock G +10 more
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Potential diagnostic assay for cystinuria by capillary electrophoresis coupled to mass spectrometry [PDF]
, 2013 Cystinuria is an autosomal recessive genetic disorder characterized by abnormal intestinal and renal tubular transport of L-cystine as well as of L-lysine, L-arginine and L-ornithine.
Assunção, Nilson Antonio +3 more
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Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
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Na+-dependent and Na+-independent betaine transport across the apical membrane of rat renal epithelium [PDF]
, 2015 The low renal excretion of betaine indicates that the kidney efficiently reabsorbs the betaine filtered by the glomeruli but the mechanisms involved in such a process have been scarcely investigated.
Calonge Castrillo, María Luisa +2 more
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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
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