Clinical and genetic characterization of children with cubilin variants

Cicek N., Alpay H., Guven S., Alavanda C., Türkkan Ö. N., Pul S., ...Daha Fazla

PEDIATRIC NEPHROLOGY, cilt.38, sa.4, ss.1381-1385, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 4
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1007/s00467-022-05730-y
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.1381-1385
  • Anahtar Kelimeler: Children, Cubilin, Focal segmental glomerulosclerosis, Proteinuria, CUBN, MUTATIONS
  • Marmara Üniversitesi Adresli: Evet

Özet

Background Cubilin is one of the receptor proteins responsible for reabsorption of albumin in proximal tubules and is encoded by the CUBN gene. We aimed to evaluate clinical and genetic characterization of six patients with proteinuria who had CUBN mutations.