Fabry disease and nephrogenic diabetes insipidus

Pediatric Nephrology

Volumn 21, Issue 8, 2006, Pages 1185-1188

  Wornell, Philip ^a   Dyack, Sarah ^a   Crocker, John ^a   Yu, Weiming ^b   Acott, Philip ^a  

^a IWK HEALTH CENTRE   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

Author keywords

Fabry disease; Hypertension; Hypokalaemia; Nephrogenic diabetes insipidus; Paediatrics; Proteinuria

Indexed keywords

LISINOPRIL; POTASSIUM; VASOPRESSIN;

ARTICLE; BLOOD PRESSURE REGULATION; CASE REPORT; CLINICAL FEATURE; DEHYDRATION; DISEASE ASSOCIATION; FABRY DISEASE; FAMILIAL DISEASE; FLUID INTAKE; FOAM CELL; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPOKALEMIA; KIDNEY BIOPSY; MALE; NEPHROGENIC DIABETES INSIPIDUS; PERIODIC ACID SCHIFF STAIN; PHYSICAL EXAMINATION; POLYDIPSIA; POLYURIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; TREATMENT OUTCOME; TREATMENT WITHDRAWAL; URINALYSIS; URINE VOLUME; WATER DEPRIVATION;

CHILD; DIABETES INSIPIDUS, NEPHROGENIC; FABRY DISEASE; HUMANS; MALE;

EID: 33746139661     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0110-x     Document Type: Article

References (16)

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
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
3. Gunther H (1913) Anhidrosis and diabetes insipidus. Z Klin Med 78:53
4. Colley JR, Muller DL, Hutt MSR, Wallace HJ, de Wardener HE (1958) The renal lesion in angiokeratoma corporis diffusum. BMJ 1:1266-1268
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
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
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
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
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
10. Elleder M, Poupetova H, Kozich V (1998) Fetal pathology in Fabry's disease and mucopolysaccharidosis type I. Cesk Patol 34:7-12
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
12. Raas-Rothschld A, Friedlaender MM, Pizov G, Backenroth R (2005) The kidney in Fabry disease. J Pediatr 146:148
13. Tondeur M, Resibois A (1969) Fabry's disease in children. An electron microscopic study. Virchows Arch B Cell Pathol 2:239-254
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
15. Warnock DG (2005) Fabry disease: Diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens 14:87-95
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