Results 61 to 70 of about 6,399 (205)
Ocular manifestations of the genetic renal tubulopathies
Ophthalmic Genetics, 2023 The genetic tubulopathies are rare and heterogenous disorders that are often difficult to identify. This study examined the tubulopathy-causing genes for ocular associations that suggested their genetic basis and, in some cases, the affected gene.Sixty-seven genes from the Genomics England renal tubulopathy panel were reviewed for ocular features, and ...
GeFei Yang +4 more
openaire +2 more sources
Masked crystalline light chain tubulopathy and podocytopathy with focal segmental glomerulosclerosis: a rare MGRS‐associated renal lesion [PDF]
, 2021 Monoclonal Gammopathy of Renal Significance (MGRS) encompasses a wide spectrum of histopathology. Characterizing rare forms of MGRS-related renal pathology remains work in progress.
Candice Roufosse +17 more
core +1 more source
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort
Kidney International ReportsIntroduction: In pediatric patients, monogenic causes are a significant contributor to kidney disease, ranging from approximately 10% in congenital anomalies of the kidney and urinary tract (CAKUT) to about 55% in renal ciliopathies. Exome sequencing has
Katharina Lemberg +23 more
doaj +1 more source
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
openaire +3 more sources
Protective Role of Vitamin D in Renal Tubulopathies [PDF]
Metabolites, 2020 Vitamin D is tightly linked with renal tubular homeostasis: the mitochondria of proximal convoluted tubule cells are the production site of 1α,25-dihydroxyvitamin D3. Patients with renal impairment or tubular injury often suffer from chronic inflammation.
Gembillo G. +5 more
openaire +3 more sources
, 2023 Supplemental material, sj-tif-2-tpx-10.1177_01926233231191128 for Comparative Analysis of Hypertensive Tubulopathy in Animal Models of Hypertension and Its Relevance to Human Pathology by Alex A. Gutsol, Taben M.
Rania Nasrallah (12102213) +10 more
core +1 more source
Glomerular and Tubular Functions in Children and Adults with Transfusion-Dependent Thalassemia
Turkish Journal of Hematology, 2018 This study aimed at assessing renal functions in patients with transfusion-dependent thalassemia (TDT). Fifty patients and 30 controls were enrolled in this prospective study. Serum levels of electrolytes and albumin were measured by a spectrophotometer.
Agageldi Annayev +5 more
doaj +1 more source
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
doaj +1 more source
Hypophosphataemia in adults: approach to diagnosis and management
Internal Medicine Journal, EarlyView.Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran +2 more
wiley +1 more source
, 2023 Supplemental material, sj-tif-4-tpx-10.1177_01926233231191128 for Comparative Analysis of Hypertensive Tubulopathy in Animal Models of Hypertension and Its Relevance to Human Pathology by Alex A. Gutsol, Taben M.
Rania Nasrallah (12102213) +10 more
core +1 more source