Pathologic Quiz Case: An Unsuspected Cause of Nephrotic Syndrome

Archives of Pathology and Laboratory Medicine

Volumn 128, Issue 5, 2004, Pages 593-594

  Thamboo, Thomas Paulraj ^a   Sivaraman, Pary ^b   Chan, Norman Hock Ling ^a,c  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^c UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYTODIAGNOSIS; DISEASE COURSE; FABRY DISEASE; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; KIDNEY BIOPSY; NEPHROTIC SYNDROME; TREATMENT OUTCOME;

ADULT; FABRY DISEASE; FEMALE; HUMANS; KIDNEY; NEPHROTIC SYNDROME;

EID: 2342502618     PISSN: 00039985     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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2. Farge D, Nadler S, Wolfe LS, Barre P, Jothy S. Diagnostic value of kidney biopsy in heterozygous Fabry's disease. Arch Pathol Lab Med. 1985;109:85-88.
3. Chen HC, Tsai JH, Lai YH, Guh JY. Renal changes in heterozygous Fabry's disease - a family study. Am J Kidney Dis. 1990;15:180-183.
4. Handa Y, Yotsumoto S, Isobe E, et al. A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene. Dermatology. 2000;200:262-265.
5. 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. 2001;38:769-775.
6. Cohen AH, Adler SG. Nail-patella syndrome (osteo-onychodysplasia), lipodystrophy, Fabry disease (angiokeratoma corporis diffusum universale) and familial lecithin-cholesterol acyltransferase deficiency. In: Tisher CC, Brenner BM, eds. Renal Pathology. With Clinical and Functional Correlations. 2nd ed. Philadelphia, Pa: JB Lippincott; 1994:1267-1290.
7. Fukushima M, Tsuchiyama Y, Nakato T, et al. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. Am J Kid Dis. 1995;26:952-955.
8. Itoh K, Takenaka T, Nakao S, et al. Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease. Am J Cardiol. 1996;78:116-117.
9. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management and enzyme replacement therapy. Ann Intern Med. 2003;138:338-346.