scholarly journals The Impact of Fabry Disease on Reproductive Fitness

2017 ◽  
pp. 85-97 ◽  
Author(s):  
Dawn A. Laney ◽  
Virginia Clarke ◽  
Allison Foley ◽  
Eric W. Hall ◽  
Scott E. Gillespie ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Reproductive Fitness ◽  
The Impact

The impact of Fabry disease on reproductive fitness

2016 ◽  
Vol 117 (2) ◽  
pp. S70
Author(s):  
Dawn A. Laney ◽  
Virginia Clark ◽  
Myrl Holida
Keyword(s):  
Fabry Disease ◽  
Reproductive Fitness ◽  
The Impact

Thromboembolic events in Fabry disease and the impact of factor V Leiden

2015 ◽  
Vol 114 (2) ◽  
pp. S71-S72
Author(s):  
Malte Lenders ◽  
Nesrin Karabul ◽  
Thomas Duning ◽  
Boris Schmitz ◽  
Michael Schelleckes ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Factor V Leiden ◽  
Factor V ◽  
Thromboembolic Events ◽  
The Impact

The impact of fever and dystermia in Fabry disease diagnosis: A retrospective analysis

2016 ◽  
Vol 117 (2) ◽  
pp. S77
Author(s):  
Raffaele Manna ◽  
Daniela Antuzzi ◽  
Roberta Ricci ◽  
Claudio Feliciani ◽  
Donato Rigante ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Retrospective Analysis ◽  
Disease Diagnosis ◽  
The Impact

P0067PREDICTORS OF LONG-TERM OUTCOME IN A SPANISH COHORT OF PATIENTS WITH FABRY DISEASE ON ENZYME REPLACEMENT THERAPY

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Marian Goicoechea ◽  
Francisco Gomez-Preciado ◽  
Silvia Benito ◽  
Joan Torras ◽  
Roser Torra ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Left Ventricular ◽  
Response To Therapy ◽  
Clinical Event ◽  
Enzyme Replacement ◽  
Clinical Events ◽  
The Impact

Abstract Background and Aims Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and predictors of clinical events in Fabry disease patients on ERT. Method Multicentre retrospective observational analysis of patients diagnosed and treated with ERT for Fabry disease. The primary outcome was the first renal, neurological or cardiological events or death during a follow-up of 60 months (24-120). Results In 69 patients (42 males, 27 females, mean age 44.6 ±13.7 years), at the end of follow-up, eGFR and the left ventricular septum thickness remained stable and the urinary albumin: creatinine ratio tended to decrease, but this decrease only approached significance in patients on agalsidase-beta (242 to 128 mg/g (p = 0.05). At the end of follow-up, 21 (30%) patients had suffered an incident clinical event: 6 renal, 2 neurological and 13 cardiological (including 3 deaths). Events were more frequent in patients with baseline eGFR ≤60 ml/min/1.73 m2 (log Rank 12.423, p=0.001), and this remained significant even after excluding incident renal events (log Rank 4.086, p=0.043), being these differences more relevant in females (log Rank 18.514, p<0.001) than males (logRank: 3.442, p=0.064). Lower baseline eGFR was associated with a 3- to 7-fold increase in the risk of clinical events in different Cox models. Conclusion GFR at the initiation of ERT is the main predictor of clinical events, both in males and in females, suggesting that start of ERT prior to the development of CKD is associated with better outcomes. For the first time, we show that initiation of ERT in women before renal function deteriorates has a similar or even larger impact as in Fabry males to prevent clinical events.

scholarly journals Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Amaresh R. Vanga ◽  
Samantha A. Schrier Vergano ◽  
Jolanta Kowalewska ◽  
Thomas R. McCune
Keyword(s):  
Fabry Disease ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Lysosomal Storage ◽  
Normal Range ◽  
Genetic Studies ◽  
Gene Variation ◽  
Zebra Bodies ◽  
Alpha Galactosidase ◽  
The Impact

Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelial cells on biopsy, with electron microscopy showing inclusions within the cytoplasm of multiple podocytes consistent with Fabry disease. An alpha-galactosidase level was found to be 21 nm/hr/mg (normal range 50–150 nm/hr/mg). Genetic studies revealed a missense variant in the GLA gene with alanine replaced by cysteine at position 682 (c.682 A > C, p.N228H) that had not been previously associated with Fabry disease. The same variant was detected in two additional family members. The pathologic findings, clinical features, and low alpha-galactosidase level suggest that the c.682 A > C variant is associated with Fabry disease.

scholarly journals Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

2020 ◽  
Vol 21 (3) ◽  
pp. 956 ◽  
Author(s):  
Jan Lukas ◽  
Chiara Cimmaruta ◽  
Ludovica Liguori ◽  
Supansa Pantoom ◽  
Katharina Iwanov ◽  
...  
Keyword(s):  
Cell Culture ◽  
Enzyme Activity ◽  
Fabry Disease ◽  
Response Threshold ◽  
Clinical Indication ◽  
Gene Variants ◽  
Absolute Increase ◽  
Pharmacological Chaperone ◽  
Gla Gene ◽  
The Impact

Fabry disease is one of the most common lysosomal storage disorders caused by mutations in the gene encoding lysosomal α-galactosidase A (α-Gal A) and resultant accumulation of glycosphingolipids. The sugar mimetic 1-deoxygalactonojirimycin (DGJ), an orally available pharmacological chaperone, was clinically approved as an alternative to intravenous enzyme replacement therapy. The decision as to whether a patient should be treated with DGJ depends on the genetic variant within the α-galactosidase A encoding gene (GLA). A good laboratory practice (GLP)-validated cell culture-based assay to investigate the biochemical responsiveness of the variants is currently the only source available to obtain pivotal information about susceptibility to treatment. Herein, variants were defined amenable when an absolute increase in enzyme activity of ≥3% of wild type enzyme activity and a relative increase in enzyme activity of ≥1.2-fold was achieved following DGJ treatment. Efficacy testing was carried out for over 1000 identified GLA variants in cell culture. Recent data suggest that about one-third of the variants comply with the amenability criteria. A recent study highlighted the impact of inter-assay variability on DGJ amenability, thereby reducing the power of the assay to predict eligible patients. This prompted us to compare our own α-galactosidase A enzyme activity data in a very similar in-house developed assay with those from the GLP assay. In an essentially retrospective approach, we reviewed 148 GLA gene variants from our former studies for which enzyme data from the GLP study were available and added novel data for 30 variants. We also present data for 18 GLA gene variants for which no data from the GLP assay are currently available. We found that both differences in experimental biochemical data and the criteria for the classification of amenability cause inter-assay discrepancy. We conclude that low baseline activity, borderline biochemical responsiveness, and inter-assay discrepancy are alarm signals for misclassifying a variant that must not be ignored. Furthermore, there is no solid basis for setting a minimum response threshold on which a clinical indication with DGJ can be justified.

scholarly journals THE IMPACT OF NEW SCREENING CRITERIA FOR CARDIAC FABRY DISEASE IN HYPERTROPHIC CARDIOMYOPATHY PATIENTS

2015 ◽  
Vol 65 (10) ◽  
pp. A954
Author(s):  
Jiwon Seo ◽  
Minji Kim ◽  
Geu-Ru Hong ◽  
In-Jeong Cho ◽  
Chi Young Shim ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Fabry Disease ◽  
Screening Criteria ◽  
The Impact

Thromboembolic events in Fabry disease and the impact of factor V Leiden

Neurology ◽  
2015 ◽  
Vol 84 (10) ◽  
pp. 1009-1016 ◽  
Author(s):  
M. Lenders ◽  
N. Karabul ◽  
T. Duning ◽  
B. Schmitz ◽  
M. Schelleckes ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Factor V Leiden ◽  
Factor V ◽  
Thromboembolic Events ◽  
The Impact

scholarly journals Impact of the Argemone mexicana Stem Extracts on the Reproductive Fitness and Behavior of Adult Dengue Vector, Aedes aegypti L. (Diptera: Culicidae)

2014 ◽  
Vol 6 ◽  
pp. IJIS.S19006
Author(s):  
Radhika Warikoo ◽  
Sarita Kumar
Keyword(s):  
Aedes Aegypti ◽  
Petroleum Ether ◽  
Reproductive Fitness ◽  
Oviposition Deterrent ◽  
Dengue Vector ◽  
Argemone Mexicana ◽  
Egg Hatch ◽  
And Behavior ◽  
The Impact ◽  
Benzene Extract

Present investigations evaluated the impact of Argemone mexicana stem extracts on the reproductive fitness of dengue vector, Aedes aegypti, assessed in terms of oviposition deterrent and ovicidal potential. The oviposition deterrent studies of the extracts, prepared using petroleum ether, hexane, benzene, acetone, and ethanol as the solvents, revealed the maximum deterrence potency of the petroleum ether extracts with a significant 15.6% ED at 60 ppm rising by 83.8% at 1000 ppm to 99.4% effective deterrence (ED). Other stem extracts were found to be ineffective at 60 ppm, though resulted in 85.3–96.2% ED and diminished fecundity in A. aegypti at 1000 ppm. Further, A. mexicana stem extracts exhibited moderate ovicidal potential against A. aegypti eggs causing only 42.65–67.85% egg mortality at 1000 ppm, the lowest hatch of 32.15% caused by the benzene extract. Other stem extracts also failed to express effective ovicidal potency with the percent egg hatch ranging between 96.6 and 99.0 at 400 ppm, and 78.8 and 99.0 at 600 ppm. Our results suggest the significant but variable efficacy of A. mexicana stem extracts causing reproductive disadvantage in A. aegypti.

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