Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

Braun, Daniela; Warejko, Jillian; Ashraf, Shazia; Tan, Weizhen; Daga, Ankana; Schneider, Ronen; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar; Nakayama, Makiko; Schapiro, David; Rao, Jia; Schmidt, Johanna; Hoogstraten, Charlotte; Hugo, Hannah; BAKKALOĞLU EZGÜ, SEVCAN; Kari, Jameela; El Desoky, Sherif; Daouk, Ghaleb; Mane, Shrikant; Lifton, Richard; Shril, Shirlee; Hildebrandt, Friedhelm

doi:10.1093/ndt/gfy028

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

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, Scopus)

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
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
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.