Childhood nephrotic syndrome is a condition managed by general paediatricians and paediatric nephrologists. Whether treating a first presentation or a relapse, the clinician requires expertise in order to minimise the risk of serious complications and optimise long-term care. Indeed, many children suffer a difficult relapsing course in their disease, warranting consideration of second-line therapies. The last two decades have witnessed a growing knowledge of the condition and increased complexity of diagnostic and therapeutic options, which poses a challenge for the general paediatrician, given the condition's relative rarity in daily practice. This review aims to familiarise the reader with some of the most important recent developments and particularly to provide an insight into what management options are available and when it may be appropriate to seek advice from a nephrologist.
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http://dx.doi.org/10.1111/jpc.12734 | DOI Listing |
Front Pediatr
January 2025
Department of Pediatric Nephrology, Children's Hospital of Hebei Province Affiliated to Hebei Medical University, Shijiazhuang, China.
Background: Primary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B () can cause primary CoQ10 deficiency. -related glomerulopathy is a recently recognized glomerular disease that most often presents as steroid-resistant nephrotic syndrome (SRNS) in childhood.
View Article and Find Full Text PDFIndian J Nephrol
June 2024
Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research (SRIHER), Porur, Chennai, India.
Background: Nephrotic syndrome is a common cause of kidney diseases in children. Many studies have examined the association of microRNAs playing potential roles in many pathophysiological functions. We investigated the expression pattern of the microRNAs miR-17-5P, miR-155p, miR-424-5p in children with steroid sensitive nephrotic syndrome (SSNS) and steroid resistance nephrotic syndrome (SRNS), along with the healthy subjects.
View Article and Find Full Text PDFJAMA Pediatr
January 2025
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Importance: Cyclophosphamide and calcineurin inhibitors are the most used nonsteroid immunosuppressive medications globally for children with various chronic inflammatory conditions. Their comparative effectiveness remains uncertain, leading to worldwide practice variation. Nephrotic syndrome is the most common kidney disease managed by pediatricians globally and suboptimal treatment is associated with high morbidity.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Pathology, Albert Szent-Györgyi Medical Center, Faculty of Medicine, University of Szeged, 6720 Szeged, Hungary.
Fibronectin glomerulopathy (FG) is caused by fibronectin 1 () gene mutations. A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria (150 mg/dL); her family history of renal disease was negative. Markedly enlarged glomeruli (mean glomerular diameter: 196 μm; age-matched controls: 140 μm), α-SMA-positive and Ki-67-positive mesangial cell proliferation (glomerular proliferation index 1.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Alport syndrome (AS) is a genetically heterogeneous disorder resulting from variants in genes coding for the alpha-3/4/5 chains of Collagen IV, leading to defective basement membranes in the kidney, cochlea, and eye. The clinical manifestations of AS vary in patients. Cases of childhood AS caused by presenting primarily with nephrotic syndrome (NS) are rarely reported.
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