Nephronophthisis-associated ciliopathy with brachydactyly, medullary cysts, and chronic kidney disease

Kidney Int. 2024 Oct;106(4):759. doi: 10.1016/j.kint.2024.04.022.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brachydactyly* / diagnosis
  • Brachydactyly* / etiology
  • Brachydactyly* / genetics
  • Cilia / pathology
  • Ciliopathies / complications
  • Ciliopathies / diagnosis
  • Ciliopathies / genetics
  • Cysts / complications
  • Cysts / diagnostic imaging
  • Female
  • Humans
  • Kidney Diseases, Cystic* / complications
  • Kidney Diseases, Cystic* / congenital
  • Kidney Diseases, Cystic* / diagnosis
  • Kidney Diseases, Cystic* / genetics
  • Kidney Medulla / diagnostic imaging
  • Kidney Medulla / pathology
  • Male
  • Renal Insufficiency, Chronic* / complications
  • Renal Insufficiency, Chronic* / diagnosis
  • Renal Insufficiency, Chronic* / etiology

Supplementary concepts

  • Nephronophthisis, familial juvenile