CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M)

Pereira, Ester Miranda; Silva, Adalberto Socorro da; Silva, Raimundo Nonato da; Neto, José Tibúrcio Monte; Nascimento, Fernando Ferraz do; Sousa, Jackeline Larissa Mendes de; Filho, Henrique César Saraiva de Arêa Leão Costa; Filho, Herton Luiz Alves Sales; Labilloy, Anatalia; Monte, Semíramis Jamil Hadad do

doi:10.1590/2175-8239-jbn-3910

Cited by 3 publications

(2 citation statements)

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“…In human tubular cells, the expression of CD77 increases when the expression of a-Gal A is inhibited in vitro and it is significantly reduced when treated with agalsidase-α [97]. In peripheral blood mononuclear cells (PBMC) of FD patients, Gb3 levels were also significantly increased compared to control subjects [97,98] and they decreased significantly with treatment [99]. Table S1 (Supplementary Materials) lists the above mentioned accumulation biomarkers with the main characteristics.…”

Section: Accumulation Biomarkersmentioning

confidence: 99%

Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Carnicer-Cáceres

Arranz-Amo

Cea-Arestin

et al. 2021

JCM

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Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pathogenic mechanisms in which several mediators could be implicated, inducing multiorgan lesions, mainly in the kidney, heart and nervous system, resulting in clinical manifestations of the disease. Enzyme replacement therapy was shown to delay disease progression, mainly if initiated early. However, a diagnosis in the early stages represents a clinical challenge, especially in patients with a non-classic phenotype, which prompts the search for biomarkers that help detect and predict the evolution of the disease. We have reviewed the mediators involved in different pathogenic mechanisms that were studied as potential biomarkers and can be easily incorporated into clinical practice. Some accumulation biomarkers seem to be useful to detect non-classic forms of the disease and could even improve diagnosis of female patients. The combination of such biomarkers with some response biomarkers, may be useful for early detection of organ injury. The incorporation of some biomarkers into clinical practice may increase the capacity of detection compared to that currently obtained with the established diagnostic markers and provide more information on the progression and prognosis of the disease.

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Section: Accumulation Biomarkersmentioning

confidence: 99%

Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Carnicer-Cáceres

Arranz-Amo

Cea-Arestin

et al. 2021

JCM

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“…A reduction of Gb3 in PBMCs in Fabry patients was noticed after long-term enzyme replacement treatment ( 88 ). The response to ERT in FD was proposed as a promising method for monitoring ( 90 ), but Gb3 measurement in PBMCs did not represent the best alternative to investigate the Gb3 deposits in Fabry cases with missense mutations ( 89 ).…”

Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

et al. 2022

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Inherited renal diseases represent 20% of the causes of end-stage renal diseases. Fabry disease, an X-linked lysosomal storage disorder, results from α-galactosidase A deficient or absent activity followed by globotriaosylceramide (Gb3) accumulation and multiorgan involvement. In Fabry disease, kidney involvement starts early, during intrauterine life by the Gb3 deposition. Even if chronic kidney disease (CKD) is discovered later in adult life in Fabry disease patients, a decline in glomerular filtration rate (GFR) can occur during adolescence. The first clinical sign of kidney involvement is represented by albuminuria. So, early and close monitoring of kidneys function is required: albuminuria and proteinuria, urinary albumin-to-creatinine ratio, serum creatinine, or cystatin C to estimate GFR, while urinary sediment with phase-contrast microscopy under polarized light may be useful in those cases where leucocyte α-Gal A activity and GLA genotyping are not available. Children with Fabry disease and kidney involvement should receive enzyme replacement therapy and nephroprotective drugs (angiotensin-converting enzyme inhibitors or angiotensin receptor blockers) to prevent or slow the progressive loss of kidney functions. Early diagnosis of Fabry disease is important as enzyme replacement therapy reduces symptoms, improves clinical features and biochemical markers, and the quality of life. More importantly, early treatment could slow or stop progressive organ damage in later life.

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