Fabry disease and nephrogenic diabetes insipidus

Philip Wornell, Sarah Dyack, John Crocker, Weiming Yu, Philip Acott

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

16 Citas (Scopus)

Resumen

Fabry disease is a lysosomal storage disorder with kidney involvement. The initial manifestation of kidney disease is often impaired urinary concentrating ability in adolescence or young adulthood. We describe a boy diagnosed prenatally with Fabry disease who presented with polyuria, polydipsia, hypertension, hypokalaemia and proteinuria at 7 years of age. A formal water-deprivation test followed by vasopressin challenge confirmed nephrogenic diabetes insipidus. A renal biopsy revealed findings typical of Fabry disease. Angiotensin converting-enzyme therapy resulted in rapid improvement of symptoms, normalization of blood pressure and resolution of hypokalaemia and proteinuria. This child is the youngest reported Fabry disease patient with documented renal pathology and clinical manifestations of hypertension, proteinuria and nephrogenic diabetes insipidus.

Idioma originalEnglish
Páginas (desde-hasta)1185-1188
Número de páginas4
PublicaciónPediatric Nephrology
Volumen21
N.º8
DOI
EstadoPublished - ago. 2006
Publicado de forma externa

ASJC Scopus Subject Areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

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