Results 61 to 70 of about 1,812 (217)

Renal function impairment in children with intestinal failure receiving parenteral nutrition: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Children with intestinal failure are at risk for kidney dysfunction; however, the contributing factors are not well established. We aimed to describe risk factors associated with glomerular and tubular renal dysfunction in children with intestinal failure.
Amanda M. Braga da Mata, Heitor Pons Leite, Eduardo F. Hatanaka, Mariana Janiques Barcia Magalhães Fonseca, Marta Liliane de Almeida Maia, Giovana S. G. Sabio, Maria Fernanda C. de Camargo, Paulo C. Koch Nogueira   +7 more
wiley   +1 more source

Crystals, crystals everywhere but not a clue till late… Light chain crystalline proximal tubulopathy with concomitant myeloma cast nephropathy

Indian Journal of Pathology and Microbiology, 2020
The renal diseases commonly associated with myeloma include primary amyloidosis, cast nephropathy, and light chain deposition disease. Less frequent forms of renal involvement encountered in the course of myeloma are crystalline and non-crystalline ...
Smita Mary Matthai, Suceena Alexander, Shibu Jacob, Neelaveni Duhli, Vinoi George David, Santosh Varughese   +5 more
doaj   +1 more source

Detection of renal tubular transporter proteins in canine urinary extracellular vesicles using liquid chromatography–tandem mass spectrometry

Veterinary Clinical Pathology, EarlyView.
Abstract Urinary extracellular vesicles (UEVs) are membranous particles that carry renal tubular transporter proteins. Here, we evaluate whether selected renal tubular transporter proteins can be detected in UEVs isolated from small volume (1–5 mL) canine urine samples of healthy dogs and canine patients with elevated circulating parathyroid hormone ...
L. J. McGravey, P. R. Antrobus, T. L. Williams   +2 more
wiley   +1 more source

Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients [PDF]

, 2018
Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe,
Bettinelli, Alberto, Bianchetti, Mario, Caiata-Zufferey, Maria, Cortesi, Cinzia, Giannini, Olivier, Lava, Sebastiano, Tammaro, Fabiana   +6 more
core  

Urinary extracellular vesicle protein profiles discriminate different clinical subgroups of children with idiopathic nephrotic syndrome [PDF]

, 2021
Idiopathic nephrotic syndrome (INS) is the most frequent primary glomerular disease in children, displaying high grade proteinuria and oedema. The mainstay of therapy are steroids, and patients are usually classified according to the treatment response ...
Barigazzi E., Capitoli G., Crapella B., Galimberti S., Ghio L., Montini G., Morello W., Pitto M., Raimondo F., Santorelli L., Tamburello C.   +10 more
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Oxidants and Cardiorenal Vascular Remodeling—Insights from Rare Genetic Tubulopathies: Bartter’s and Gitelman’s Syndromes

Antioxidants, 2023
Two human genetic tubulopathies, Bartter’s (BS) and Gitelman’s (GS) syndromes, have normo/hypotension and absent cardiac remodeling despite their apparent angiotensin system (RAS) activation.
Luca Sgarabotto, Verdiana Ravarotto, Lucia Federica Stefanelli, Martina Cacciapuoti, Paul A. Davis, Federico Nalesso, Lorenzo A. Calò   +6 more
doaj   +1 more source

ClC-5: role in endocytosis in the proximal tubule [PDF]

, 2005
The proper functioning of the Cl- channel, ClC-5, is essential for the uptake of low molecular mass proteins through receptor-mediated endocytosis in the proximal tubule.
Cai, Hui, Cebotaru, Liudmila, Donowitz, Mark, Guggino, Sandra E., Guggino, William B., Hryciw, Deanne H., Wang, Yinghong, Weinman, Edward J.   +7 more
core   +1 more source

Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives [PDF]

, 2023
The tubular system of the kidneys is a complex series of morphologic and functional units orchestrating the content of tubular fluid as it flows along the nephron and collecting ducts.
Goodyer, Paul R, Münch, Johannes, Wagner, Carsten A   +2 more
core   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source