scholarly journals Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

JIMD Reports ◽  
2021 ◽  
Author(s):  
Eline C. B. Eskes ◽  
Martijn J. C. Lienden ◽  
Joris J. T. H. Roelofs ◽  
Liffert Vogt ◽  
Johannes M. F. G. Aerts ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Renal Involvement ◽  
Acid Sphingomyelinase ◽  
Sphingomyelinase Deficiency

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

2006 ◽  
Vol 149 (4) ◽  
pp. 554-559 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Alan Aron ◽  
Scott E. Brodie ◽  
Calogera Simonaro ◽  
Robert J. Desnick ◽  
...  
Keyword(s):  
Acid Sphingomyelinase ◽  
Intermediate Phenotype ◽  
Sphingomyelinase Deficiency ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis

2012 ◽  
Vol 67 (3) ◽  
pp. 166-172 ◽  
Author(s):  
Glady Hazitha Samuel ◽  
Stefania Lenna ◽  
Andreea M. Bujor ◽  
Robert Lafyatis ◽  
Maria Trojanowska
Keyword(s):  
Acid Sphingomyelinase ◽  
Sphingomyelinase Deficiency

Quali alterazioni dell’esame urine possono preludere ad un interessamento renale della malattia di Fabry

2019 ◽  
Vol 31 (2) ◽  
pp. 137-139
Author(s):  
Sandro Feriozzi ◽  
Mario Mangeri
Keyword(s):  
Clinical Outcome ◽  
Fabry Disease ◽  
Renal Involvement ◽  
Urine Concentration ◽  
Clear Correlation ◽  
Early Indicator ◽  
Cellular Inclusions ◽  
Laboratory Assay

The markers of renal involvement in Anderson-Fabry disease are defects of urine concentration, presence of cells with lipid cytoplasmatic inclusions (mulberry bodies) and podocyturia. The loss of urine concentrating capacity is not easy to detect and the search for cellular inclusions is a complex technique. Moreover, none of the markers has any clear correlation with the stage of the disease. The occurrence of podocytes in the urine (podocyturia) correlates with both renal involvement and clinical outcome; therefore, podocyturia seems to be a promising early indicator of nephropathy. However, a common agreement on the laboratory assay used to measure is still needed.

scholarly journals Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

2015 ◽  
Vol 116 (1-2) ◽  
pp. 88-97 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Simon A. Jones ◽  
Handrean Soran ◽  
George A. Diaz ◽  
Natalie Lippa ◽  
...  
Keyword(s):  
Dose Escalation ◽  
Acid Sphingomyelinase ◽  
Patient Dose ◽  
Sphingomyelinase Deficiency
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