Results 31 to 40 of about 5,396 (203)
Frontiers in Pediatrics, 2019 Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Maryam Najafi +14 more
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Nature Communications, 2023 Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its paralogue RagC, mediate a non-canonical
Irene Sambri +21 more
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Reviews in Cardiovascular Medicine, 2022 Gitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosis ...
Andrea Bezzeccheri +7 more
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SAGE Open Medical Case Reports, 2017 Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous,
Antigone Papavasiliou +3 more
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Loop tubulopathies: Bartter’s syndrome
Pediatric pharmacology, 2019 The authors provide a review of current clinical guidelines regarding medical care provided to children with Bartter’s syndrome — impaired renal tubular function (loop of Henle) with the development of hypokalemia, hypochloremia, metabolic alkalosis and hyperreninemic hyperaldosteronism. The specifics of disease epidemiology, etiology and pathogenesis
Alexander A. Baranov +15 more
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PathophysiologyRenal function refers to the combined actions of the glomerulus and tubular system to achieve homeostasis in bodily fluids. While the glomerulus is essential in the first step of urine formation through a coordinated filtration mechanism, the tubular ...
Mario Alamilla-Sanchez +11 more
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Inherited Tubulopathies of the Kidney [PDF]
Clinical Journal of the American Society of Nephrology, 2020 The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes.
Mallory L. Downie +3 more
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Clinical Case Reports, 2023 Key Clinical Message Light chain proximal tubulopathy (LCPT) is a rare type of monoclonal gammopathy of renal significance. Clinicians should consider LCPT in the differential diagnosis of patients with renal or proximal tubular dysfunction with ...
Asuka Kono +3 more
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Kidney Diseases, 2022 Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome.
Maria Parasyri +14 more
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Molecular developments in renal tubulopathies [PDF]
Archives of Disease in Childhood, 2000 The renal tubule is responsible for the reabsorption of more than 99% of the water and sodium in the glomerular ultrafiltrate. Congenital or acquired tubular dysfunction can therefore readily cause profound electrolyte and volume disturbance. The tubule also has to regulate acid–base balance, mineral homoeostasis, and the excretion of organic anions ...
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