Clinical, Histological and Molecular Characteristics of Mexican Patients with Fabry Disease and Significant Renal Involvement

Ramos-Kuri, Manuel; Olvera, David; Morales, Juan José Irigoyen; Rodríguez-Espino, Benjamín Antonio; Lara‐Mejía, Alejandra; Ríos, Diana De Los; Obrador, Gregorio T.; Granados, Julio; Correa‐Rotter, Ricardo

doi:10.1016/j.arcmed.2014.03.005

Cited by 4 publications

(3 citation statements)

References 23 publications

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“…When comparing the mutations present in the Colombian population with the mutation profile identified in other Latin American countries (Argentina, Mexico and Brazil) (Politei et al, 2013;Ramos-Kuri et al, 2014;Rozenfeld et al, 2006) and Spain (Pereira et al, 2007;Turaça et al, 2012;Rodríguez-Marí et al, 2003) no association is found. This is probably a consequence of the limited sample size analyzed in most of the previous studies that evaluate the mutation profile, such as Argentinean and Mexican studies.…”

Section: Discussionmentioning

confidence: 86%

Identification of mutations in Colombian patients affected with Fabry disease

Uribe

Mateus

Prieto

et al. 2015

Gene

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Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions.

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Section: Discussionmentioning

confidence: 86%

Identification of mutations in Colombian patients affected with Fabry disease

Uribe

Mateus

Prieto

et al. 2015

Gene

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“…Genetic analysis in the Mexican population is limited to a 4-patient series and suggests genetic heterogeneity. 5 We present a case of Fabry disease type 1 with a novel nonsense mutation, with possible familial involvement. It illustrates the importance of seeking etiologic workup in young patients with renal failure and highlights the role of routine primary care, because earlier detection and management could have prevented the loss of renal function.…”

Section: Discussionmentioning

confidence: 97%

Fabry Disease: An Uncommon Cause of Renal Failure

López

Andreias

Astiazarán-Symonds

et al. 2017

The American Journal of Medicine

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Fabry disease is an X-linked disorder caused by glycosphingolipid accumulation due to a-galactosidase (GLA) deficiency. Data are limited in patients with Latin American ancestry. We present the case and genetics of a latediagnosed Fabry disease patient who presented with endstage renal disease. ANA ¼ antinuclear antibody; BUN ¼ blood urea nitrogen; CRP ¼ C-reactive protein; ESR ¼ erythrocyte sedimentation rate; HIV ¼ human immunodeficiency virus; MCV ¼ mean corpuscle volume; PTH ¼ parathyroid hormone; RBC ¼ red blood cells; WBC ¼ white blood cells.

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“…The lack of α-galactosidase A (α-GLA-A) enzyme activity in FD produces an accumulation of neutral glycosphingolipids, particularly globotriaosylceramide, in multiple organs and organ systems including the heart, skin, eyes, and kidneys, as well as the gastrointestinal, auditory, and nervous systems, and this occurs mainly in capillary endothelial cells (Ramos-Kuri et al, 2014). One of the most severe manifestations of FD is renal failure, which is one of the main causes of death in these patients (Waldek and Feriozzi, 2014).…”

Section: Introductionmentioning

confidence: 99%

eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease

et al. 2016

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ABSTRACT. Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been studied in the context of many different diseases, including those involving cardiovascular and renal alterations. Considering the lack of information regarding eNOS variants and FD, we investigated whether there were associations between eNOS genetic variants and renal function parameters in Mexican patients with FD and renal impairment. In total, 15 FD patients with renal alterations were included in the present study, and associations between eNOS polymorphisms and renal function parameters (urea, creatinine, and GFR) were evaluated. The Asp298 and 4a alleles of the eNOS gene were found to be significantly associated with increased levels of urea and creatinine, and a decreased glomerular filtration rate in FD patients, and this association behaved in a co-dominant fashion. Our results coincide with previous reports showing an association between these polymorphisms and kidney disease, and along with other studies regarding their role in the nitric oxide pathway, suggest that these variants affect the severity of nephropathy in patients with FD.

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Clinical, Histological and Molecular Characteristics of Mexican Patients with Fabry Disease and Significant Renal Involvement

Cited by 4 publications

References 23 publications

Identification of mutations in Colombian patients affected with Fabry disease

Identification of mutations in Colombian patients affected with Fabry disease

Fabry Disease: An Uncommon Cause of Renal Failure

eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease

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