The coincidence of IgA nephropathy and Fabry disease

BMC Nephrology

Case Report

Lubor Goláň¹  Jana Kidorová²  Vladimír Tesař²  Romana Ryšavá²  Dita Maixnerová²  Jana Reiterová²  Miroslav Merta²  Michaela Neprašová²  Eva Honsová³  Lenka Dvořáková⁴  Helena Poupětová⁴ 

[1] Department of Cardiovascular Medicine, Charles University, Prague, Czech Republic;Department of Nephrology, Charles University, Prague, Czech Republic;Department of Pathology, First Faculty of Medicine, Charles University, Prague, Czech Republic;Institute for Inherited Metabolic Disorders, Charles University, Prague, Czech Republic;

关键词: Fabry disease;    IgA nephropathy;    Alpha-galactosidase A;   

DOI  :  10.1186/1471-2369-14-6

 received in 2012-08-07, accepted in 2013-01-07,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundIgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD).Case presentationA 26 year-old man underwent a renal biopsy in February 2001. Histopathology showed very advanced IgAN and vascular changes as a result of hypertension. Because of his progressive renal insufficiency the patient began hemodialysis in August 2001. By means of the blood spot test screening method the diagnosis of FD was suspected. Low activity of alpha-galactosidase A in the patient’s plasma and leukocytes and DNA analysis confirmed the diagnosis of FD. Enzyme replacement therapy started in July 2004. Then the patient underwent kidney transplantation in November 2005. Currently, his actual serum creatinine level is 250 μmol/l. Other organ damages included hypertrophic cardiomyopathy, neuropathic pain and febrile crisis. After enzyme replacement therapy, myocardial hypertrophy has stabilized and other symptoms have disappeared. No further progression of the disease has been noted.The other patient, a 30 year-old woman, suffered from long-term hematuria with a good renal function. Recently, proteinuria (2.6 g/day) appeared and a renal biopsy was performed. Histopathology showed IgAN with remarkably enlarged podocytes. A combination of IgAN and a high suspicion of FD was diagnosed. Electron microscopy revealed dense deposits in paramesangial areas typical for IgAN and podocytes with inclusive zebra bodies and myelin figures characteristic of FD. FD was confirmed by the decreased alpha-galactosidase A activity in plasma and leukocytes and by DNA and RNA analysis. Enzyme replacement therapy and family screening were initiated.ConclusionsOur results emphasize the role of complexity in the process of diagnostic evaluation of kidney biopsy samples. Electron microscopy represents an integral part of histopathology, and genetic analysis plays a more and more important role in the final diagnosis, which is followed by causal treatment.

【 授权许可】

Unknown   
© Maixnerova et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.