Proteinuria in a male adolescent with hearing loss: Answers

Pediatr Nephrol. 2018 Jul;33(7):1161-1163. doi: 10.1007/s00467-017-3825-y. Epub 2017 Nov 2.
No abstract available

Keywords: Alpha-galactosidase A; Fabry disease; Hearing loss; Mutation analysis; Proteinuria; Renal involvement.

MeSH terms

  • Adolescent
  • Biopsy
  • Consanguinity
  • Fabry Disease / complications
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Fabry Disease / pathology
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Kidney / pathology
  • Kidney / ultrastructure
  • Male
  • Mass Screening / methods
  • Microscopy, Electron
  • Pedigree
  • Proteinuria / diagnosis
  • Proteinuria / etiology*
  • Proteinuria / pathology
  • Proteinuria / urine
  • Sex Factors
  • Trihexosylceramides / blood*
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / metabolism*

Substances

  • Trihexosylceramides
  • globotriaosylceramide
  • alpha-Galactosidase