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Patient-derived and gene-edited pluripotent stem cells lacking recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation.
Front Cell Dev Biol
June 2024
iPS Cell Advanced Characterization and Development Team, Bioresource Research Center, RIKEN, Tsukuba, Ibaraki, Japan.
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults. Mutations in the gene encoding nephrocystin-1 protein have been identified as the most frequently responsible gene and cause the formation of cysts in the renal medulla. The molecular pathogenesis of juvenile nephronophthisis remains elusive, and no effective medicines to prevent end-stage renal failure exist even today.
View Article and Find Full Text PDFGenetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.
Am J Kidney Dis
December 2024
Nephrology Department, Hospital Universitario Infanta Leonor, Universidad Autónoma de Madrid, Madrid; RICORS2040, Universidad Autónoma de Madrid, Madrid; Universidad Complutense de Madrid, Universidad Autónoma de Madrid, Madrid. Electronic address:
Article Synopsis
- Chronic kidney disease of unknown etiology (CKDUE) is a leading global cause of kidney failure, and the GENSEN Study aimed to explore its genetic causes through extensive genetic testing on a large patient population.
- The study involved 818 patients under 45 with advanced CKDUE, discovering pathogenic gene variants in about 25% of them, with type IV collagen genes being the most commonly affected.
- The research revealed significant previously undiagnosed genetic kidney diseases, suggesting that genomic testing can be a valuable approach in understanding and treating CKDUE.
Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.
J Clin Lab Anal
June 2024
Department of Medical Genetics, Afzalipour Faculty of Medicine, Kerman University of Medical Sciences, Kerman, Iran.
Background: Nephronophthisis-4 (NPHP4) is an inherited renal ciliopathy described by renal fibrosis and progressive impairment of kidney function. This study aimed to investigate the genetic basis and clinical manifestations of NPHP4 in two Iranian siblings.
Methods: The proband was a 27-year-old male with features of end-stage renal disease, including anemia, uremia, polyuria, and polydipsia.
A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.
J Nephrol
June 2024
Paediatric Nephrology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
Background: Kidney failure in young people is often unexplained and a significant proportion will have an underlying genetic diagnosis. National Health Service England pioneered a comprehensive genomic testing service for such circumstances accessible to clinicians working outside of genetics. This is the first review of patients using this novel service since October 2021, following its introduction into clinical practice.
View Article and Find Full Text PDFDiverse retinal-kidney phenotypes associated with homozygous whole-gene deletions in patients with kidney failure.
J Rare Dis (Berlin)
March 2024
Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Unlabelled: A precise diagnosis in medicine allows appropriate disease-specific management. Kidney failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis unit and kidney transplant clinic, accounting for 15-20% of these patients. Approximately 10% of such cases may have an underlying monogenic cause of kidney failure.
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