Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease

Kidney International

Volumn 66, Issue 3, 2004, Pages 978-982

  Ries, Markus ^a   Bove Bettis, Karen E ^b   Choyke, Peter ^b   Kopp, Jeffrey B ^b   Austin III, Howard A ^b   Brady, Roscoe O ^b   Schiffmann, Raphael ^b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NONE

Author keywords

Cyst; Fabry disease; Genetics; Kidney; Lyososmal; Male; Sinus

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; CASE CONTROL STUDY; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME REPLACEMENT; FABRY DISEASE; GENOTYPE; HUMAN; IMAGE ANALYSIS; INULIN CLEARANCE; KIDNEY CORTEX; KIDNEY CYST; KIDNEY FAILURE; KIDNEY MEDULLA; KIDNEY PELVIS; NEUROPATHIC PAIN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN SECRETION; TISSUE DISTRIBUTION;

EID: 4344633906     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00846.x     Document Type: Article

References (31)

1. BRADY RO, GAL AE, BRADLEY RM, et al: Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163-1167, 1967
2. MEIKLE PJ, HOPWOOD JJ, CLAGUE AE, CAREY WF: Prevalence of lysosomal storage disorders. JAMA 281:249-254, 1999
3. GADOTH N, SANDBANK U: Involvement of dorsal root ganglia in Fabry's disease. J Med Genet 20:309-312, 1983
4. O'BRIEN BD, SHNITKA TK, MCDOUGALL R, et al: Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease. Gastroenterology 82:957-962, 1982
5. KLUG H, ZABEL R, EVERS U: [Fabry disease: Clinical, biochemical and electron microscopical studies (author's translation)]. Dermatol Monatsschr 165:46-54, 1979
6. TSUKADA N, HANU N, OGUCHI K, et al: [Fabry's disease with malocclusion and acromegalic-appearance: Clinical and electromicroscopic studies (author's translation)]. No To Shinkei 32:311-319, 1980
7. LE CHARPENTIER Y, CROUZET J, LE CHARPENTIER M, et al: [Fabry's disease without cutaneous angiokeratoma: Diagnosis by electron microscope study of skin biopsy (author's translation)]. Semin Hop 57:78-82, 1981
8. SESSA A, TOSON A, NEBULONI M, et al: Renal ultrastructural findings in Anderson-Fabry disease. J Nephrol 15:109-112, 2002
9. ALROY J, SABNIS S, KOPP JB: Renal pathology in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S134-S138, 2002
10. BRADY RO, SCHIFFMANN R: Clinical features of and recent advances in therapy for Fabry disease. JAMA 284:2771-2775, 2000
11. SCHIFFMANN R: Natural history of Fabry disease in males: Preliminary observations. J Inherit Metab Dis 24 (Suppl 2):15-17 [discussion 11-12], 2001
12. RIES M, RAMASWAMI U, PARINI R, et al: The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents. Eur J Pediatr 162:767-772, 2003
13. BRANTON MH, SCHIFFMANN R, SABNIS SG, et al: Natural history of Fabry renal disease: Influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81:122-138, 2002
14. SESSA A, MERONI M, BATTINI G, et al: Renal involvement in Anderson-Fabry disease. J Nephrol 16:310-313, 2003
15. WHYBRA C, KAMPMANN C, WILLERS I, et al: Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 24:715-724, 2001
16. MACDERMOT KD, HOLMES A, MINERS AH: Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769-775, 2001
17. THADHANI R, WOLF M, WEST ML, et al: Patients with Fabry disease on dialysis in the United States. Kidney Int 61:249-255, 2002
18. TSAKIRIS D, SIMPSON HK, JONES EH, et al: Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 11(Suppl 7):4-20, 1996
19. RIES M, WENDRICH K, WHYBRA C, et al: Angiokeratoma and pain, but not Fabry's disease: Considerations for differential diagnosis. Contrib Nephrol 136:256-259, 2001
20. BREUNIG F, WEIDEMANN F, BEER M, et al: Fabry disease: Diagnosis and treatment. Kidney Int 63(Suppl 84):181-185, 2003
21. SCHIFFMANN R, KOPP JB, AUSTIN HA III, et al: Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 285:2743-2749, 2001
22. GRANTHAM J: Cystic diseases of the kidney, in Cecil Textbook of Medicine (21st ed), edited by Goldman L, Bennett JC, Philadelphia, WB Saunders, 2000, pp 628-630
23. TERADA N, ICHIOKA K, MATSUTA Y, et al: The natural history of simple renal cysts. J Urol 167:21-23, 2002
24. HENTHORNE JC: Peripelvic lymphatic cysts of the kidney: A review of the literature on perinephric cysts. Am J Clin Pathol 8:28, 1938
25. JORDAN WP: Peripelvic cysts of the kidney. J Urol 87:97, 1962
26. AMIS ES, CRONAN JJ: The renal sinus: An imaging review and proposed nomenclature for sinus cysts. J Urol 139:1151-1159, 1988
27. KEYL MJ, BELL RD, PARRY WL: Summary of renal lymphatic studies. J Urol 109:325, 1978
28. BACCAGLINI L, SCHIFFMANN R, BRENNAN MT, et al: Oral and craniofacial findings in Fabry's disease: A report of 13 patients. Oral Surg Oral Med Oral Palhol Oral Radiol Endod 92:415-419, 2001
29. SAKURABA H, YANAGAWA Y, IGARASHI T, et al: Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes. Clin Genet 29:276-283, 1986
30. DESNICK RJ, BLIEDEN LC, SHARP HL, et al: Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 54:818-825, 1976
31. KAMPMANN C, BAEHNER F, RIES M, BECK M: Cardiac involvement in Anderson-Fabry disease. J Am Soc Nephrol 13(Suppl 2):S147-S149, 2002