Background: Idiopathic nephrotic syndrome (NS) in children poses treatment challenges, with a subset developing steroid-resistant nephrotic syndrome (SRNS). Genetic factors play a role, yet data on paediatric SRNS genetics in India are scarce. We conducted a prospective study using whole-exome sequencing to explore genetic variants and their clinical correlations.
Methods: A single-centre prospective study (October 2018-April 2023) enrolled children with SRNS, undergoing renal biopsy and genetic testing per institutional protocol. Clinical, histological, and genetic data were recorded. DNA isolation and next-generation sequencing were conducted for genetic analysis. Data collection included demographics, clinical parameters, and kidney biopsy findings. Syndromic features were evaluated, with second-line immunosuppressive therapy administered. Patient and renal outcomes are presented for patients with and without genetic variants.
Results: A total of 680 paediatric NS patients were analysed, with 121 (17.8%) having SRNS and 96 consent to genetic analysis. 69 (71.9%) had early SRNS, 27 (28.1%) late. Among participants, 62 (64.58%) had reportable genetic variants. The most common were in COL4A genes, with 20 (31.7%) positive. Renal biopsy showed focal segmental glomerulosclerosis in 31/42 (74%) with variants, 16/28 (57.1%) without variants. Second-line immunosuppressions varied, with CNIs the most common. Outcomes varied, with partial or complete remission achieved in some while others progressed to ESRD.
Conclusion: The study underscores the importance of genetic analysis in paediatric SRNS, revealing variants in 65.7% of cases. COL4A variants were predominant. Variants correlated with varied renal outcomes, highlighting potential prognostic implications. These findings emphasize the value of personalized approaches and further research in managing paediatric SRNS.
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http://dx.doi.org/10.1093/ckj/sfae218 | DOI Listing |
Curr Stem Cell Res Ther
December 2024
National Institute for Drug Clinical Trial, Beijing Tongren Hospital, Capital Medical University, No.1 Dongjiaominxiang Road, Beijing, 100730, China.
Background: Idiopathic Nephrotic Syndrome (INS) is a common kidney disease in children, and the main clinical manifestations are hypoproteinaemia, proteinuria, hyperlipidaemia, and oedema. Mesenchymal Stem Cells (MSCs) are involved in tissue repair, protection against fibrosis, and immune modulation but have rarely been studied in INS.
Objective: This study aimed to explore the therapeutic potential of stem cells derived from human exfoliated deciduous teeth (SHEDs) in INS using an adriamycin-induced nephropathy (AN) rat model.
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.
Biomed Chromatogr
January 2025
Modern Research Center for Traditional Chinese Medicine, Shanxi University, Taiyuan, China.
Astragali Radix (AR) is one of the monarch drugs of Fangji Huangqi decoction and has the effects of inducing diuresis to alleviate edema, tonifying and strengthening the body. However, there is a paucity of research regarding the effective fraction and the underlying metabolic mechanism of AR on nephrotic syndrome (NS). This work aims to elucidate the potential mechanisms of AR treating NS, as well as to identify effective part and components.
View Article and Find Full Text PDFPediatr Nephrol
December 2024
Dr Lalpath Lab, New Delhi, India.
Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology has been focal segmental glomerulosclerosis (FSGS) in all reported cases.
View Article and Find Full Text PDFBackground: This study aimed to evaluate the response to therapy and outcome with long-term daily mycophenolate mofetil (MMF) and high-dose alternate-day steroids (HADS) in children with dense deposit disease (DDD).
Methods: Children with DDD who received long-term MMF (1200 mg/m/day) and HADS (1.5-2 mg/kg AD) with slow tapering were retrospectively evaluated for their clinico-pathological presentation, response to therapy (complete, partial, no remission) and outcome (patient and renal survival).
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