Currently, no evidence-based guidelines exist for treatment of children with monogenic steroid-resistant nephrotic syndrome. A retrospective study on 141 patients from Malakasioti et al. revealed that 27.6% responded to calcineurin inhibitor (CNI) treatment, and 75% of responders maintained stable kidney function. Virtually all CNI nonresponders developed progressive loss of kidney function. This study emphasized roles for CNIs in patients with monogenic steroid-resistant nephrotic syndrome, and the need for future studies to identify CNI response biomarkers.
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http://dx.doi.org/10.1016/j.kint.2023.02.017 | DOI Listing |
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 PDFKidney 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.
Introduction The early diagnosis and appropriate treatment of monogenic glomerular diseases can reduce kidney failure, avoid unnecessary investigations such as kidney biopsies and ineffective treatment with immunosuppressants, guide transplant decisions, and inform the genetic risks of their family members. Yet, genetic testing for kidney disease is under-utilized in Singapore. We aimed to implement a nephrologist-led genetic service and evaluate the acceptance, adoption, utility and cost-effectiveness of genetic testing for monogenic glomerular disease in Singapore.
View Article and Find Full Text PDFGenes Dis
March 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Pediatr Neonatol
October 2024
Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, Georgia. Electronic address:
Alport syndrome (AS) is the second common monogenic cause of end-stage kidney disease (ESKD) worldwide and is caused by defective type 4 collagen due to pathogenic variants of COL4A3, COL4A4, or COL4A5. Type 4 collagen also exists in the eyes and ears, and thus ocular defects and hearing loss occur in AS. The understanding of AS has expanded over the past two decades due to greater availability of genetic testing and research on genotype-phenotype correlation.
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