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.
Rossella Siligato +2 more
exaly +5 more sources
Outcome of Primary Tubular Tubulopathies Diagnosed in Pediatric Age
Nefrologia, 2021 Background and objective: Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history.
Cristina Julia Blázquez Gómez +3 more
exaly +3 more sources
Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease [PDF]
Kidney International ReportsIntroduction: Genetic kidney disease is often suspected based on a family history of the disease or the presence of extrarenal features. This study examined how often a positive family history or syndromic features are found.
Benjamin Serrano, Judy Savige
doaj +2 more sources
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era [PDF]
Brazilian Journal of NephrologyIntroduction: The diagnosis of nephrocalcinosis (NC) is challenging due to difficulties in radiologic detection, clinical heterogeneity, and its broad etiological spectrum that includes both genetic and non-genetic causes. This study aimed to uncover, in
Elenice Andrade Milhomem Ayoub +6 more
doaj +2 more sources
RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathies [PDF]
Orphanet Journal of Rare DiseasesBackground Inherited salt-losing tubulopathies (SLT) are rare disorders caused by gene mutations that disrupt renal tubular ion transport. However, the molecular mechanisms underlying SLT pathogenesis remain unclear.
Fuhui Ma +7 more
doaj +2 more sources
Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults [PDF]
DiagnosticsRenal tubular disorders are often overlooked causes of acquired or inherited bone hypomineralization and fragility fractures in adults. The proximal tubule reabsorbs glucose, phosphate, low-molecular-weight proteins, amino acids, bicarbonate, and much of
Carlos Perez Gomes +2 more
doaj +2 more sources
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort [PDF]
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 +2 more sources
A case report of neonatal renal pseudohypoaldosteronism type I caused by a de novo variant in the NR3C2 gene [PDF]
Frontiers in PediatricsPseudohypoaldosteronism type I (PHA I) is a rare hereditary disorder of mineralocorticoid resistance, with the renal form predominantly caused by NR3C2 variants.
Hongcai Ma +3 more
doaj +2 more sources
Tubulopathy: the clinical and genetic approach in diagnosis [PDF]
Childhood Kidney Diseases, 2023 Remarkable advances in genetic diagnosis expanded our knowledge about inherited tubulopathies and other genetic kidney diseases. This review suggests a simple categorization of inherited tubular disease, clarifies the concept of autosomal dominant ...
Jinwoon Joung, Heeyeon Cho
doaj +1 more source
Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians [PDF]
International Journal of Molecular SciencesMaria García-Murias +2 more
exaly +2 more sources