Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers

Pediatr Nephrol. 2018 May;33(5):801-803. doi: 10.1007/s00467-017-3742-0. Epub 2017 Jul 24.
No abstract available

Keywords: Children; Cone-shaped epiphyses; Mainzer–Saldino; Nephronophthisis; Retinitis pigmentosa.

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / diagnosis*
  • Child, Preschool
  • Female
  • Hand / diagnostic imaging*
  • Humans
  • Mutation
  • Renal Insufficiency, Chronic / diagnosis*
  • Renal Insufficiency, Chronic / etiology
  • Retinitis Pigmentosa / complications
  • Retinitis Pigmentosa / diagnosis*

Substances

  • Carrier Proteins
  • IFT140 protein, human

Supplementary concepts

  • Mainzer-Saldino Disease