Ocular involvement in a child with medullary nephrocalcinosis

Pediatr Nephrol. 2013 Apr;28(4):627-30. doi: 10.1007/s00467-012-2237-2. Epub 2012 Jul 4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Claudins / genetics
  • DNA Mutational Analysis
  • Diagnostic Techniques, Ophthalmological
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Kidney Function Tests
  • Kidney* / diagnostic imaging
  • Kidney* / pathology
  • Kidney* / physiopathology
  • Magnesium Deficiency / complications*
  • Magnesium Deficiency / diagnosis
  • Magnesium Deficiency / genetics
  • Mutation
  • Nephrocalcinosis / complications*
  • Nephrocalcinosis / diagnosis
  • Nephrocalcinosis / genetics
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Retinal Diseases / diagnosis
  • Retinal Diseases / etiology*
  • Retinal Diseases / genetics
  • Ultrasonography

Substances

  • CLDN19 protein, human
  • Claudins

Supplementary concepts

  • Manz syndrome