More than tubular dysfunction: cystinosis and kidney outcomes

Atmis B., K Bayazit A., Cevizli D., Kor D., Fidan H. B., Bisgin A., ...More

JOURNAL OF NEPHROLOGY, vol.35, no.3, pp.831-840, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1007/s40620-021-01078-y
  • Journal Name: JOURNAL OF NEPHROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.831-840
  • Keywords: Children, Cystinosis, Kidney outcomes, Glomerulonephritis, NEPHROPATHIC CYSTINOSIS, CTNS MUTATIONS, LUPUS, PROTEINURIA, DIAGNOSIS, DISEASE
  • Çukurova University Affiliated: Yes

Abstract

Background Cystinosis is a lysosomal storage disease that affects many tissues. Its prognosis depends predominantly on kidney involvement. Cystinosis has three clinical forms: nephropathic infantile, nephropathic juvenile and non-nephropathic adult. Proximal tubular dysfunction is prominent in the infantile form, whereas a combination of glomerular and tubular alterations are observed in the juvenile form.