Publications by authors named "N Serrano de Carrera"
Article Synopsis
- * Mutations in this gene can disrupt normal function, resulting in renal issues like polycystic kidney disease and structural kidney abnormalities, as well as extrarenal problems like diabetes, genitourinary malformations, and neurodevelopmental disorders.
- * Future research aims to clarify how these genetic changes affect health, which could improve clinical management and support for affected patients and their families.
Article Synopsis
- Pediatric ovarian torsion (OT) is difficult to diagnose due to vague symptoms, so this study aimed to evaluate the effectiveness of clinical, ultrasound, and lab markers in diagnosing the condition.
- Researchers conducted a retrospective study on patients suspected of OT in seven pediatric hospitals from 2016 to 2022, comparing those with confirmed torsion to those without.
- The study found that a higher neutrophil-to-lymphocyte ratio (NLR) correlated with OT diagnosis, suggesting an NLR above 2.57 can help predict the need for urgent surgery in affected patients.
Background: Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our objective was to determine the frequency and distribution of genetic variants in steroid-resistant nephrotic syndrome FSGS (SRNS-FSGS) and in FSGS of undetermined cause (FSGS-UC).
Methods: We performed targeted exome sequencing of 84 genes associated with glomerulopathy in patients with adult-onset SRNS-FSGS or FSGS-UC after ruling out secondary causes.
Genetic kidney diseases (GKDs) are a group of rare diseases, affecting approximately about 60 to 80 per 100,000 individuals, for which there is currently no treatment that can cure them (in many cases). GKDs usually leads to early-onset chronic kidney disease, which results in patients having to undergo dialysis or kidney transplant. Here, we briefly describe genetic causes and phenotypic effects of six GKDs representative of different ranges of prevalence and renal involvement (ciliopathy, glomerulopathy, and tubulopathy).
View Article and Find Full Text PDFGitelman and Bartter syndromes are rare inherited diseases that belong to the category of renal tubulopathies. The genes associated with these pathologies encode electrolyte transport proteins located in the nephron, particularly in the Distal Convoluted Tubule and Ascending Loop of Henle. Therefore, both syndromes are characterized by alterations in the secretion and reabsorption processes that occur in these regions.
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