Non-Nephrotic Albuminuria and Low Molecular Weight Proteinuria Due to CUBN Mutation CUBN Mutasyonuna Bağlı Nefrotik Düzeyde Olmayan Albüminüri ve Düşük Molekül Ağırlıklı Proteinüri

Yildiz G., Türkmen M. A., HATİPOĞLU S., TORUN BAYRAM M., Kavukçu S., SOYLU A.

Turkiye Klinikleri Pediatri, cilt.34, sa.3, ss.136-139, 2025 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 3
  • Basım Tarihi: 2025
  • Doi Numarası: 10.5336/pediatr.2025-108414
  • Dergi Adı: Turkiye Klinikleri Pediatri
  • Derginin Tarandığı İndeksler: Scopus, EMBASE
  • Sayfa Sayıları: ss.136-139
  • Anahtar Kelimeler: Cubulin, focal segmental glomerulosclerosis, low molecular weight proteinuria, non-nephrotic albuminuria
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Non-glomerular diseases causing large proteinuria and albuminuria may lead to diagnostic difficulty. Cubilin, in association with megalin and amnionless, is required for proximal tubular reabsorption of proteins including albumin. Mutations in either the CUBN or the AMN gene result in Imerslund-Gräsbeck syndrome characterized by megaloblastic anemia and low molecular weight proteinuria. C-terminal mutations of CUBN, however, result in proteinuria, mainly albuminuria, without B12 malabsorption. Although renal functions remain normal over time, renal biopsy performed with suspicion of glomerular disease may reveal focal segmental glomerulosclerosis in some cases. We describe here an adolescent girl with chronic non-progressive proteinuria that was attributed to biallelic CUBN variants.