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Fabry disease and nephrogenic diabetes insipidus

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Abstract

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.

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References

  1. Desnick RJ, Ioannou YA, Eng CM (2001) Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733–3774

    Google Scholar 

  2. Branton M, Schiffman R, Kopp JB (2002) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13:S139–S143

    Article  Google Scholar 

  3. Gunther H (1913) Anhidrosis and diabetes insipidus. Z Klin Med 78:53

    Google Scholar 

  4. Colley JR, Muller DL, Hutt MSR, Wallace HJ, de Wardener HE (1958) The renal lesion in angiokeratoma corporis diffusum. BMJ 1:1266–1268

    Article  CAS  Google Scholar 

  5. Parchoux B, Guibaud P, Maire I, Bouvier R, Goddon R, Badinand P, Gueho A, Larbre F, de Fabry M (1978) Diabète insipide néphrogénique inaugural chez l’enfant. Pediatrie 33:757–765

    CAS  PubMed  Google Scholar 

  6. Sessa A, Meroni M, Battini G, Righetti M, Maglio A, Tosoni A, Nebuloni M, Vago G, Giordano F (2003) Renal involvement in Anderson–Fabry disease. J Nephrol 16:310–313

    CAS  PubMed  Google Scholar 

  7. Branton M, Schiffman R, Sabnis S, Murray GJ, Quirk JM, Altarescu G, Brady RO, Goldfarb L, Balow JE, Austin HAI, Kopp JB (2002) Natural history of Fabry renal disease: Influence of α-galactosidase activity and genetic mutations on clinical course. Medicine 81:122–138

    Article  CAS  Google Scholar 

  8. Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, Gal A, Beck M (2003) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 162:767–772

    Article  Google Scholar 

  9. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R (2005) Pediatric Fabry disease. Pediatrics 115:e344–e355

    Article  Google Scholar 

  10. Elleder M, Poupetova H, Kozich V (1998) Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I. Cesk Patol 34:7–12

    CAS  PubMed  Google Scholar 

  11. Gubler MC, Lenoir G, Grünfeld J-P, Ulmann A, Droz D, Habib R (1978) Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 13:223–235

    Article  CAS  Google Scholar 

  12. Raas-Rothschld A, Friedlaender MM, Pizov G, Backenroth R (2005) The kidney in Fabry disease. J Pediatr 146:148

    Article  Google Scholar 

  13. Tondeur M, Resibois A (1969) Fabry’s disease in children. An electron microscopic study. Virchows Arch B Cell Pathol 2:239–254

    CAS  PubMed  Google Scholar 

  14. Ruggenenti P, Pagano E, Tammuzzo L, Benini R, Garattini L, Remuzzi G (2001) Ramipril prolongs life and is cost effective in chronic proteinuric nephropathies. Kidney Int 59:286–294

    Article  CAS  Google Scholar 

  15. Warnock DG (2005) Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens 14:87–95

    Article  Google Scholar 

  16. Desnick RJ, Brady R, Barranger MD, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338–346

    Article  Google Scholar 

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Acknowledgement

Philip Wornell was supported by a Board of Directors’ Fellowship at the IWK Health Science Centre.

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Authors and Affiliations

  1. Department of Paediatrics, IWK Health Centre, 5850/5980 University Avenue, P.O. Box 9700, Halifax, Nova Scotia, B3K 6R8, Canada

    Philip Wornell, Sarah Dyack, John Crocker & Philip Acott

  2. Pathology and Laboratory Medicine, University of Calgary, Calgary, Canada

    Weiming Yu

Authors
  1. Philip Wornell
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  2. Sarah Dyack
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  3. John Crocker
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  4. Weiming Yu
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  5. Philip Acott
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Correspondence to Philip Acott.

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Wornell, P., Dyack, S., Crocker, J. et al. Fabry disease and nephrogenic diabetes insipidus. Pediatr Nephrol 21, 1185–1188 (2006). https://doi.org/10.1007/s00467-006-0110-x

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  • DOI: https://doi.org/10.1007/s00467-006-0110-x

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