Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues

Alhasan K., D'Alessandri-Silva C., Mongia A., TOPALOĞLU R., Tasic V., Filler G.

Advances in Chronic Kidney Disease, vol.29, no.3, pp.292-307, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 29 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1053/j.ackd.2021.11.004
  • Journal Name: Advances in Chronic Kidney Disease
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.292-307
  • Keywords: Bartter syndrome, Cystinosis, Cystinuria, Fanconi syndrome, Rickets
  • Hacettepe University Affiliated: Yes


© 2021 National Kidney Foundation, Inc.Recent advances in the management of kidney tubular diseases have resulted in a significant cohort of adolescents and young adults transitioning from pediatric- to adult-focused care. Most of the patients under adult-focused care have glomerular diseases, whereas rarer tubular diseases form a considerable proportion of pediatric patients. The purpose of this review is to highlight the clinical signs and symptoms of tubular disorders, as well as their diagnostic workup, including laboratory findings and imaging, during young adulthood. We will then discuss more common disorders such as cystinosis, cystinuria, distal kidney tubular acidosis, congenital nephrogenic diabetes insipidus, Dent disease, rickets, hypercalciuria, and syndromes such as Bartter, Fanconi, Gitelman, Liddle, and Lowe. This review is a practical guide on the diagnostic and therapeutic approach of tubular conditions affecting young adults who are transitioning to adult-focused care.