Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

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Braun D. A., Warejko J. K., Ashraf S., Tan W., Daga A., Schneider R., ...Daha Fazla

NEPHROLOGY DIALYSIS TRANSPLANTATION, cilt.34, sa.3, ss.485-493, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1093/ndt/gfy028
  • Dergi Adı: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.485-493
  • Anahtar Kelimeler: genetic variants, inherited diseases, nephrotic syndrome, treatment response in pediatric nephrotic syndrome, whole exome sequencing, STEROID-RESISTANT, SEQUENCE VARIANTS, DIRECT TARGET, LAMININ, MUTATIONS, GUIDELINES, PODOCYTES
  • Gazi Üniversitesi Adresli: Evet

Özet

Background Nephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, approximate to 15% of childhood-onset cases do not respond to steroid therapy and are classified as steroid-resistant NS (SRNS). In approximate to 30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes laminin-5, an essential component of the glomerular basement membrane. Mice with a hypomorphic mutation in the orthologous gene Lama5 develop proteinuria and hematuria.