Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma

Daitx, Vanessa Vitcoski; Mezzalira, J. C.; Coelho, Janice Carneiro

doi:10.1016/j.clinbiochem.2012.04.030

Cited by 17 publications

(11 citation statements)

References 21 publications

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“…Leukocyte and plasma a-Gal-A activity levels are strongly correlated. 14 To make leukocyte and plasma a-Gal-A activity values measured in different laboratories and at different times comparable, we expressed a-Gal-A activity as a percentage of the lower limit of a given laboratory's normal range (Table 1). All protein changes were checked with the MutationTaster software (http://www.mutationtaster.org/cgi-bin/MutationTaster/ MutationTaster69.cgi).…”

Section: Clinical Informationmentioning

confidence: 99%

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss

Najafian

Tøndel

Svarstad

et al. 2020

JASN

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BackgroundIn males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A lead to accumulation of globotriaosylceramide (GL3) in various cell types. In the glomerular podocytes, accumulation of GL3 progresses with age. Of concern, podocytes are relatively resistant to enzyme replacement therapy and are poorly replicating, with little ability to compensate for cell loss.MethodsIn this study of 55 males (mean age 27 years) with classic Fabry disease genotype and/or phenotype, we performed unbiased quantitative morphometric electron microscopic studies of biopsied kidney samples from patients and seven living transplant donors (to serve as controls). We extracted clinical information from medical records and clinical trial databases.ResultsPodocyte GL3 volume fraction (proportion of podocyte cytoplasm occupied by GL3) increased with age up to about age 27, suggesting that increasing podocyte GL3 volume fraction beyond a threshold may compromise survival of these cells. GL3 accumulation was associated with podocyte injury and loss, as evidenced by increased foot process width (a generally accepted structural marker of podocyte stress and injury) and with decreased podocyte number density per glomerular volume. Worsening podocyte structural parameters (increasing podocyte GL3 volume fraction and foot process width) was also associated with increasing urinary protein excretion—a strong prognosticator of adverse renal outcomes in Fabry disease—as well as with decreasing GFR.ConclusionsGiven the known association between podocyte loss and irreversible FSGS and global glomerulosclerosis, this study points to an important role for podocyte injury and loss in the progression of Fabry nephropathy and indicates a need for therapeutic intervention before critical podocyte loss occurs.

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Section: Clinical Informationmentioning

confidence: 99%

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss

Najafian

Tøndel

Svarstad

et al. 2020

JASN

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“…To determine the approximate blood volume in the 1.2 mm punch, we calculate and average quantity according to what Reuser et al (2011), Daitx et al (2012, and Rodrigues et al (2009) reported before (see Supplementary Fig. 1).…”

Section: Sample Collection For the Controls And Patients In The Studymentioning

confidence: 99%

Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

Uribe

Giugliani

2013

JIMD Reports

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Lysosomal storage disorders (LSDs) are a very heterogeneous group of hereditary disorders. The diagnostic process usually involves complex sampling, processing, testing, and validation procedures, performed by specialized laboratories only, which causes great limitations in reaching a diagnosis for patients affected by these diseases.There are few studies about LSDs in Colombia. The diagnostic limitations often make medical practitioners disregard the possibility of these disorders while diagnosing their patients. The current study documents the results of a 7-year screening in high-risk patients, aimed to detect LSDs using dried blood spots (DBS) collected on filter paper, with a micromethodology that facilitates diagnosis even with a large number of samples.The activities of a-galactosidase A, a glucosidase, a-Liduronidase, arylsulfatase B, b-galactosidase, b-glucosidase, total hexosaminidase, iduronate sulfatase, and chitotriosidase were analyzed in high-risk patients for lysosomal disease. The catalytic activity was evaluated with fluoro-

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“…Similarly, Nakagawa et al (13) found that β-glucosidase in all cell types is mainly membrane bound and it is stimulated by taurocholate in granulocytes, monocytes and lymphocytes, so they suggested that variations in the total number of leukocytes and in the relative proportion of their various cell types might lead to inconsistent or unreliable values for enzyme activity in the diagnosis of LSD and in carrier detection. Daitx et al (14) observed no correlation between the enzyme activities in DBS and in leukocytes for the whole population because of the corrected calculation of enzyme activity regarding protein levels in leucocytes and the inhibition of alpha-galactosidase B isozyme activity by N-acetyl-D-galactosamine in DBS samples but not inhibition of isozyme in leucocyte samples (14). Elbin et al (7) demonstrated that the enzyme activities can be affected by inadequate blood spot processing especially by an incomplete mixing of blood before spotting (7) in accordance with these observations, we showed that the enzyme activities in DBS sample are closely correlated with the number of leucocytes of patients.…”

Section: Discussionmentioning

confidence: 99%

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

Sözmen¹,

Dondurmacı²,

Uçar³

et al. 2018

jpr

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Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma

Cited by 17 publications

References 21 publications

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss

Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects

False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

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