Partially enlarged structure of NUP133: wild-type (upper) and mutant p.Lys966Asn (lower).
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Risk factors and retreatment for relapse in childhood primary nephrotic syndrome treated with rituximab.
Pediatr Nephrol
January 2025
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.
Background: The effectiveness of rituximab (RTX) for steroid-dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS) in children is well documented. However, there are insufficient data on relapse risk factors. Additionally, the retreat regimen for relapsed children requires further investigation.
View Article and Find Full Text PDFChildhood idiopathic nephrotic syndrome: recent advancements shaping future guidelines.
Pediatr Nephrol
December 2024
Néphrologie Pédiatrique, Centre de Référence du Syndrome Néphrotique Idiopathique de L'enfant Et L'adulte, Hôpital Necker - Enfants Malades, APHP, Inserm U1163, Institut Imagine, Université Paris Cité, Paris, France.
Childhood idiopathic nephrotic syndrome is an important pediatric kidney disease associated with significant morbidities and even mortality. Several guidelines have been developed to standardize the terminology and patient care among the pediatric nephrology community. Since the publication of these guidelines, there have been major breakthroughs in the disease management and the understanding of underlying pathogenesis through multi-omics investigations, including the identification of anti-nephrin autoantibodies, genetic susceptibility loci, and the pathogenic role of B cell subsets.
View Article and Find Full Text PDFIncidence and Risk Factors for Hypertension among Children with Nephrotic Syndrome.
J Pediatr
December 2024
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada; Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Women's College Hospital, Department of Medicine, Toronto Ontario, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:
Objectives: To determine incidence and risk factors for hypertension in childhood nephrotic syndrome.
Study Design: Using data from the Insight into Nephrotic Syndrome (INSIGHT) study, a prospective observational childhood nephrotic syndrome cohort from Toronto, Canada, we evaluated hypertension incidence and time-to-hypertension overall and stratified by 1) steroid-resistance or steroid-sensitivity, and 2) frequently-relapsing, steroid dependent, or infrequently-relapsing. Hypertension was defined as stage 1-2 hypertensive blood pressure on two consecutive visits or anti-hypertensive medication initiation.
Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
Kidney Int Rep
December 2024
Division of Molecular Medicine, University of São Paulo School of Medicine, São Paulo, Brazil.
Introduction: The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.
Methods: A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.
Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by a variant: a case report.
Clin Kidney J
December 2024
Division of Nephrology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
We report the case of a 49-year-old Chinese woman with nephrotic syndrome, characterized by normal kidney function but poor response to hormonal and immunosuppressive therapy, indicative of steroid-resistant nephrotic syndrome. Through renal biopsy, the patient was diagnosed as havingfocal segmental glomerulosclerosis (perihilar type), and subsequent whole-exome sequencing identified a pathogenic frameshift variant concerning the TBC domain of the gene. This patient represents the first late-onset Chinese female who was found to carry a novel, pathogenic variant in the gene .
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