Scoring system for renal pathology in Fabry disease: report of the international study group of fabry nephropathy (ISGFN).

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Serval ID
serval:BIB_D300F36C8A0B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Scoring system for renal pathology in Fabry disease: report of the international study group of fabry nephropathy (ISGFN).
Journal
Nephrology, Dialysis, Transplantation
Author(s)
Fogo Agnes B., Bostad Leif, Svarstad Einar, Cook William J., Moll Solange, Barbey Federic, Geldenhuys Laurette, West Michael, Ferluga Dusan, Vujkovac Bojan, Howie Alexander J., Burns Aine, Reeve Roy, Waldek Stephen, Noel Laure-Helene, Gruenfeld Jean-Pierre, Valbuena Carmen, Oliveira Joao Paulo, Mueller Justus, Breunig Frank, Zhang Xiao, Warnock David G.
ISSN
1460-2385[electronic], 0931-0509[linking]
Publication state
Published
Issued date
2010
Volume
25
Number
7
Pages
2168-2177
Language
english
Abstract
BACKGROUND: In Fabry nephropathy, alpha-galactosidase deficiency leads to accumulation of glycosphingolipids in all kidney cell types, proteinuria and progressive loss of kidney function. METHODS: An international working group of nephrologists from 11 Fabry centres identified adult Fabry patients, and pathologists scored histologic changes on renal biopsies. A standardized scoring system was developed with a modified Delphi technique assessing 59 Fabry nephropathy cases. Each case was scored independently of clinical information by at least three pathologists with an average final score reported. RESULTS: We assessed 35 males (mean age 36.4 years) and 24 females (43.9 years) who mostly had clinically mild Fabry nephropathy. The average serum creatinine was 1.3 mg/dl (114.9 micromol/l); estimated glomerular filtration rate was 81.7 ml/min/1.73 m(2) and urine protein to creatinine ratio was 1.08 g/g (122.0 mg/mmol). Males had greater podocyte vacuolization on light microscopy (mean score) and glycosphingolipid inclusions on semi-thin sections than females. Males also had significantly more proximal tubule, peritubular capillary and vascular intimal inclusions. Arteriolar hyalinosis was similar, but females had significantly more arterial hyalinosis. Chronic kidney disease stage correlated with arterial and glomerular sclerosis scores. Significant changes, including segmental and global sclerosis, and interstitial fibrosis were seen even in patients with stage 1-2 chronic kidney disease with minimal proteinuria. CONCLUSIONS: The development of a standardized scoring system of both disease-specific lesions, i.e. lipid deposition related, and general lesions of progression, i.e. fibrosis and sclerosis, showed a spectrum of histologic appearances even in early clinical stage of Fabry nephropathy. These findings support the role of kidney biopsy in the baseline evaluation of Fabry nephropathy, even with mild clinical disease. The scoring system will be useful for longitudinal assessment of prognosis and responses to therapy for Fabry nephropathy.
Keywords
Chronic Kidney Disease, Fabry Disease, Pathology, Sclerosis, Scoring, Enzyme Replacement Therapy, Glomerular-Filtration-Rate, Alpha-Galactosidase, Natural-History, Kidney-Function, Biopsy Findings, Females, Classification, Involvement, Diagnosis
Pubmed
Web of science
Open Access
Yes
Create date
12/07/2010 14:55
Last modification date
25/09/2019 6:10
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