Fabry Nephropathy: An Evidence-Based Narrative Review

Pino, María Dolores del Pino y; Andrés, Amado; Bernabeu, A. Ávila; Juan-Rivera, Joaquín De; Fernàndez, Elvira; García-Díaz, Juan de Dios; Hernández, Domingo; Luño, José; Fernández, Isabel Martínez; Paniagua, José; Паз, Мануел Посада де ла; Rodríguez‐Pérez, José Carlos; Santamaría, Rafael; Torrá, Roser; Ambrós, Joan Torras; Vidau, Pedro; Torregrosa, José-Vicente

doi:10.1159/000488121

Cited by 41 publications

(32 citation statements)

References 113 publications

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“…Non-specific treatment includes angiotensin converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs) to maintain a urine protein to creatinine ratio less than 0,5 g/g. Some evidence also support the potential use of medications such as amiloride as podocyte stabilizator and antiproteinuric or paricalcitol 63 .…”

Section: Intracellular Deposit Storage Diseasesmentioning

confidence: 98%

“…It has been reported that podocyturia might be an earlier marker of disease than proteinuria, although microalbuminuria/proteinuria is the most commonly used method for kidney function assessment in early stages (first or second decade of life) 62 . Novel procedures to differentiate female AFD patients are proteomic analysis or urinary Gb3 or lyso-Gb3 determination 63 .…”

Section: Intracellular Deposit Storage Diseasesmentioning

confidence: 99%

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Storage diseases with hypertrophic cardiomyopathy phenotype

Ruiz-Guerrero

Barriales‐Villa

2018

gcsp

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Never judge a book by its cover, nor assume hypertrophic cardiomyopathy (HCM) as sarcomeric, as appearances can deceive. HCM phenocopies account for a 5–10% of the cases, mainly represented by storage diseases, flagged by the increasing prevalence of senile cardiac amyloid in developing countries. Multisystemic and heterogeneous presentation of these entities is a challenge for clinicians, and time delay in diagnosis is a major concern. Promising drugs and gene-specific tailored therapies are under development, therefore, more than ever, appropriate understanding of these conditions is mandatory for adequate early treatment and counselling.In this review, storage disorders will be classified as extracellular and intracellular deposit storage diseases, focusing our attention on the most prevalent conditions from the cardiologist’s perspective.

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Section: Intracellular Deposit Storage Diseasesmentioning

confidence: 98%

Section: Intracellular Deposit Storage Diseasesmentioning

confidence: 99%

Storage diseases with hypertrophic cardiomyopathy phenotype

Ruiz-Guerrero

Barriales‐Villa

2018

gcsp

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“…The prevalence of this disease is estimated to be between 0.85 and 2.5 cases per 100,000 individuals worldwide, but it may be largely underestimated due to the wide spectrum of clinical phenotypes [2]. Indeed, FD is a multisystem pathology, involving renal, cardiovascular, neurological, dermatological, and ophthalmological systems [3], that, if untreated, leads to severe complications that may end in premature death [4,5].…”

Section: Introductionmentioning

confidence: 99%

Optical Coherence Tomography Angiography Findings in Fabry Disease

Cennamo

Maio

Montorio

et al. 2019

JCM

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Background: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optical coherence tomography angiography (OCT-A) allows for an objective analysis of retinal microvasculature alterations, evaluating retinal vessel density in macular region. Methods: A total of 54 FD patients (34 females, 20 males, mean age 44.1 ± 15.6 years) and 70 controls (36 females, 34 males, mean age 42.3 ± 15.6 years) were included in this study. We evaluated vessel density in different macular areas (whole image, fovea, and parafovea) of both the superficial capillary plexus (SCP) and of the deep capillary plexus (DCP). Results: In the SCP there was a significantly lower vascular density in patients compared with controls in whole image (49.95 ± 5.17% vs. 51.99 ± 2.52%; p < 0.001), parafovea (52.01 ± 6.69% vs. 54.30 ± 2.61%; p = 0.002), and fovea (22.38 ± 9.01% vs. 29.31 ± 5.84%; p < 0.0001). In the DCP the vessel density was statistically increased in each macular area in patients compared with controls (54.82 ± 8.07% vs. 50.93 ± 5.46%; p = 0.005, 57.76 ± 7.26% vs. 53.59 ± 5.46%; p = 0.0001, and 39.75 ± 8.59% vs. 34.43 ± 8.68%; p < 0.0001 for whole image, parafovea, and fovea, respectively). Conclusion: OCT-A analysis showed that the macular vessel density was significantly reduced in the SCP and increased in the DCP in FD patients compared with controls. These findings, which might be a consequence of the alteration of vascular wall occurring in FD, support the hypothesis that the evaluation of early retinal microvascular network changes could be a useful tool in the clinical evaluation of the disease.

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“…4 D–F). Both filtration and reabsorption dysfunction lead to end-stage renal disease, which requires hemodialysis [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

Hongo

Harada

Fukuro

et al. 2020

Molecular Genetics and Metabolism Reports

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Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry disease. Enzyme replacement therapy (ERT) using recombinant alpha-galactosidase A has been shown to remove Gb3 from organs and to improve the prognosis of Fabry disease. We herein report the case of a 67-year-old classical type Fabry patient who had been treated with ERT for 6 years and who continuously showed a high antibody titer against recombinant alpha-galactosidase A during therapy. A post-mortem examination was performed after sudden death. A histological examination revealed the massive accumulation of Gb3 in various organs, even after long term ERT. In addition to the typical pathological findings as reported in tissue biopsy samples, the serious accumulation of Gb3 in the cardiac conduction system and the endocrine system was detected. Since the start of ERT for this patient might be too late to improve organ damage and prognosis, ERT should be started before the appearance of major organ involvement for the effective elimination of Gb3 and changes in the therapeutic strategy might be considered if the patient shows a high antibody titer against recombinant alpha-galactosidase A.

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Fabry Nephropathy: An Evidence-Based Narrative Review

Abstract: Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids

Cited by 41 publications

References 113 publications

Storage diseases with hypertrophic cardiomyopathy phenotype

Storage diseases with hypertrophic cardiomyopathy phenotype

Optical Coherence Tomography Angiography Findings in Fabry Disease

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy

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