Zobrazeno 1 - 10
of 2 017
pro vyhledávání: '"Tubulopathy"'
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Multiple myeloma (MM) often causes renal tubular damage, such as the light chain cast nephropathy (LCCN) and the light chain proximal tubulopathy (LCPT). The excessive light chains deposited in the proximal and distal tubules usua
Externí odkaz:
https://doaj.org/article/bef3008ddbd147aeb4ff5278edde6007
Autor:
E. Sendino Garví, G. J. J. van Slobbe, E. A. Zaal, J. H. F. de Baaij, J. G. Hoenderop, R. Masereeuw, M. J. Janssen, A. M. van Genderen
Publikováno v:
Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Background The KCNJ16 gene has been associated with a novel kidney tubulopathy phenotype, viz. disturbed acid–base homeostasis, hypokalemia and altered renal salt transport. KCNJ16 encodes for Kir5.1, which together with Kir4.1 constitutes
Externí odkaz:
https://doaj.org/article/b7d4d0d2b3144e5f820a6f1db8c9b993
Publikováno v:
Pediatria Polska, Vol 99, Iss 1, Pp 89-93 (2024)
Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys. It is a consequence of mutation of the OCRL gene on
Externí odkaz:
https://doaj.org/article/52dd70c09e16402fa110fefd9240fd39
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 59-64 (2024)
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of
Externí odkaz:
https://doaj.org/article/5eba4a35561d4ef78f233f32d6f62573
Publikováno v:
Kidney Medicine, Vol 6, Iss 5, Pp 100816- (2024)
Light-chain proximal tubulopathy (LCPT) is typically characterized by the intracytoplasmic deposition of light chains within the proximal tubular epithelial cells, which is usually classified into crystalline and noncrystalline subgroups. Membranous
Externí odkaz:
https://doaj.org/article/56949eedc3ef4ec2a7f8c539a6cf0ddc
Autor:
Mario Alamilla-Sanchez, Juan Daniel Diaz Garcia, Valeria Yanez Salguero, Fleuvier Morales Lopez, Victor Ulloa Galvan, Francisco Velasco Garcia-Lascurain, Benjamin Yama Estrella
Publikováno v:
Frontiers in Nephrology, Vol 4 (2024)
Acquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction. These tubulopathies phenotypically can resemble Bartter or Gitelman
Externí odkaz:
https://doaj.org/article/c72857afd68349b0bb8fcd18616a66e0
Autor:
Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homology or repetitive segme
Externí odkaz:
https://doaj.org/article/562f2d8f33f64894b552c46d64c66672
Publikováno v:
Kidney and Dialysis, Vol 3, Iss 2, Pp 229-243 (2023)
Chronic interstitial nephritis in agricultural communities is an emerging public health concern affecting numerous agricultural communities in tropical countries, including regions in India, with a significant impact on the health and well-being of a
Externí odkaz:
https://doaj.org/article/7a73ab05adfc44a2a9ee3d0335b20427
Autor:
Lan Yao, Xianhui Liang, Yamin Liu, Bingyu Li, Mei Hong, Xin Wang, Bohan Chen, Zhangsuo Liu, Pei Wang
Publikováno v:
Redox Biology, Vol 68, Iss , Pp 102946- (2023)
Diabetic tubulopathy (DT) is a recently recognized key pathology of diabetic kidney disease (DKD). The mitochondria-centric view of DT is emerging as a vital pathological factor in different types of metabolic diseases, such as DKD. Finerenone (FIN),
Externí odkaz:
https://doaj.org/article/b46131f8a37c40f59d52208f61d0b41e
Autor:
Romaric Larcher, Anne-Sophie Bargnoux, Stephanie Badiou, Noemie Besnard, Vincent Brunot, Delphine Daubin, Laura Platon, Racim Benomar, Matthieu Amalric, Anne-Marie Dupuy, Kada Klouche, Jean-Paul Cristol
Publikováno v:
Renal Failure, Vol 45, Iss 2 (2023)
Tubular injury is the main cause of acute kidney injury (AKI) in critically ill COVID-19 patients. Proximal tubular dysfunction (PTD) and changes in urinary biomarkers, such as NGAL, TIMP-2, and IGFBP7 product ([TIMP-2]•[IGFBP7]), could precede AKI
Externí odkaz:
https://doaj.org/article/ccda4949b9ca41aeb18b6d051d8262f7