Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation [PDF]
, 2021 Background: Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients' diagnosis, prognosis, surveillance and therapy. Methods: The present study applied a Next Generation Sequencing
Blanco, Francesca Del Vecchio +14 more
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Urinary Extracellular Vesicles and Salt-Losing Tubulopathies: A Proteomic Approach
Proteomes, 2020 Renal tubular cells release urinary extracellular vesicles (uEV) that are considered a promising source of molecular markers for renal dysfunction and injury.
Francesca Raimondo +4 more
doaj +1 more source
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 ...
openaire +2 more sources
Long-Term Follow-Up after Paediatric Kidney Transplantation and Influence Factors on Graft Survival: A Single-Centre Experience of 16 years [PDF]
, 2018 Introduction: To evaluate graft- and patient survival after paediatric kidney transplantation and detecting influence factors, which affect the post-transplant time.
Banuelos-Marco, Beatriz +7 more
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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families [PDF]
, 2021 Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing.
Alexander, Stephen I. +16 more
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Mycotoxic porcine nephropathy and spontaneous occurrence of ochratoxin A residues in kidneys of slaughtered swine [PDF]
Zbornik Matice Srpske za Prirodne Nauke, 2009 In order to find information on the occurrence of mycotoxic porcine nephropathy in Serbia, during a six month period (2006/2007) samples of kidney from individual healthy slaughtered pigs were collected (n=90) and analyzed by HPLC for ochratoxin A.
Milićević Dragan R. +5 more
doaj +1 more source
Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy: Current attitude among European pediatricians [PDF]
, 2018 Potassium deficiency predisposes to cardiac arrhythmias culminating in syncope or sudden death. Because of the uncertainty related to the possible occurrence of such cardiac arrhythmias in the context of normotensive-hypokalemic tubulopathies, 19 ...
Bettinelli, Alberto +3 more
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Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]
, 2019 BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli +49 more
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Making urinary extracellular vesicles a clinically tractable source of biomarkers for inherited tubulopathies using a small volume precipitation method: proof of concept [PDF]
, 2020 : Biomarkers of inherited tubulopathies would be useful for clarifying diagnoses in patients where genetic screening is not readily available or where disease-attributable mutations are not found.
Bastos, Carlos +3 more
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Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling [PDF]
, 2021 Evolution moves in mysterious ways. Excretion of waste products by glomerular filtration made perfect sense when life evolved in the ocean. Yet, the associated loss of water and solutes became a problem when life moved onto land: a serious design change ...
Bockenhauer, D, Kleta, R
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