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Volume 3, Issue 3 (Suppl) J Kidney, an open access journal
ISSN:2472-1220 Kidney & Nephrology 2017
August 28-30, 2017
August 28-30, 2017 Philadelphia, USA
15th Annual Congress on
Kidney: Nephrology & Therapeutics
A rare case of association between Fabry's nephropathy and membranous glomerulonephritis:
New perspectives on pathophysiology and follow-up of Fabry's disease
Daniel Santos Rocha Sobral Filho
Federal University of Piauí, Brazil
Fabrydisease (FD) is a rareX-linkeddisorder resulting fromthedeficiencyof alpha-galactosidaseAenzyme.Microalbuminuria
is the initial manifestation of renal involvement, progressing to end-stage renal disease. From one case, we followed
the patient's response to enzyme replacement therapy (ERT) and the evolution of its manifestations. A 61 years old male
was referred to nephrologist to investigate generalized edema and massive proteinuria. He referred a previous diagnosis of
cardiomyopathy and heart failure treatment. Physical examination revealed widespread edema. Complementary tests showed
nephrotic proteinuria, hypoalbuminemia and dyslipidemia. Renal biopsy revealed membranous glomerulonephritis (MN)
and FD association. Anti-phospholipase-A2-Receptor autoantibodies were positive, revealing the unprecedented association
between idiopathic MN and Fabry nephropathy, reinforces the hypothesis that Fabry's nephropathy may modify podocyte
antigens, leading to idiopathic MN. Others FD manifestations were found: cornea verticillata, hypertrophic cardiomyopathy
and supratentorial microangiopathy. The α-Gal activity was reduced, associated with lyso-Gb3 accumulation. Genetic analysis
identified an unreported hemizygous mutation in exon 7 of the GLA gene.The patient experienced decreased edema and clinical
stabilization with the institution of fortnightly ERT with agalsidase alfa, with complementary exams showing preservation of
renal function with reduction in proteinuria and increased serum albumin. Family screening identified six close relatives with
FD on oligosymptomatic stage. This study recognized an unknown association between MN and FD and an unreported genetic
mutation. It’s also serving as the basis for the development of a database that aims to allow the follow-up of these patients,
making possible the analysis of clinical data and of its evolution.
Biography
Daniel Santos Rocha Sobral Filho is a Medical Student at Federal University of Piauí, Teresina - Piauí – Brazil and has Scholarship of the Program of Scientific
Initiation of the Federal University of Piauí. He participates in researches in nephrology, focusing on genetic nephropathies.
Daniel Santos Rocha Sobral Filho, J Kidney 2017, 3:3 (Suppl)
DOI: 10.4172/2472-1220-C1-002