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
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Outcome of primary tubular tubulopathies diagnosed in pediatric age
Nefrología (English Edition), 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
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Protective Role of Vitamin D in Renal Tubulopathies
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.
Guido Gembillo +5 more
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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
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Chemotherapy-induced tubulopathy: a case report series [PDF]
Frontiers in NephrologyAcquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez +6 more
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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
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Urolithiasis in Children—Clinical Picture, Pathogenesis, and Diagnostic Approach [PDF]
BiomoleculesAs in adults, urolithiasis is a significant health problem in children from an early age, having a very negative impact on health and quality of life and potentially leading to kidney function impairment.
Justyna Pięta +3 more
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Nature Communications, 2020 Salt levels in culture affect the polarisation of Th17 cells, which normally protect the host from fungal and bacterial infections. Here, the authors study patients with salt-losing tubulopathies (SLT) to find that, while Th17 immunity is dampened in SLT
Rhys D. R. Evans +10 more
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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
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“Every Cloud Has a Silver Lining”: How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It [PDF]
Clinics and PracticeThe process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried out through different steps, with the interaction between ACE2 and Spike protein (S) being crucial.
Martina Cacciapuoti +5 more
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