scholarly journals Late diagnosis of Fabry Disease in hemodialysis patient

2019 ◽  
pp. 48-53
Author(s):  
S. Fomina ◽  
O. Ovska
Keyword(s):  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
Hemodialysis Patient ◽  
Late Diagnosis ◽  
Medical Community ◽  
Clinical Criteria ◽  
Lysosomal Disorders ◽  
Stage Renal Disease ◽  
End Stage

The Fabry Disease in young white man with End Stage Renal Disease was reported. Diagnosis was detected at stage of hemodialysis treatment despite sings which admitted as clinical criteria were found at childhood but did not identify during 20 years due limited awareness of medical community about lysosomal disorders.

scholarly journals Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Antonio Pisani ◽  
Aurora Daniele ◽  
Carmela Di Domenico ◽  
Ersilia Nigro ◽  
Francesco Salvatore ◽  
...  
Keyword(s):  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
De Novo ◽  
Late Diagnosis ◽  
De Novo Mutation ◽  
Stage Renal Disease ◽  
End Stage

Diagnosis of Fabry disease in a patient with end stage renal disease on hemodialysis: A case report

2018 ◽  
Vol 123 (2) ◽  
pp. S77-S78
Author(s):  
Jin Sug Kim ◽  
Yu Ho Lee ◽  
Su Woong Jung ◽  
Kyung Hwan Jeong ◽  
Tae Won Lee ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage

143. End stage renal disease in patients with Fabry disease: Natural history data from the Fabry registry

2010 ◽  
Vol 99 (2) ◽  
pp. S38
Author(s):  
David Warnock ◽  
Alberto Ortiz ◽  
Bruno Cianciaruso ◽  
Marta Cizmarik ◽  
Dominique Germain ◽  
...  
Keyword(s):  
Natural History ◽  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
History Data ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Vancomycin Induced Thrombocytopenia – Protracted Course in a Hemodialysis Patient

2019 ◽  
Vol 12 (3) ◽  
pp. 749-754 ◽  
Author(s):  
Nisha Elizabeth Ajit ◽  
Sindhu Priya Devarashetty ◽  
Samip Master
Keyword(s):  
Renal Disease ◽  
Renal Clearance ◽  
End Stage Renal Disease ◽  
Side Effect ◽  
Hemodialysis Patient ◽  
Treatment Modalities ◽  
Platelet Destruction ◽  
Life Threatening ◽  
Stage Renal Disease ◽  
End Stage

Vancomycin induced thrombocytopenia (VIT) is an uncommon side effect of vancomycin which can manifest from mild petechiae to life-threatening bleed. Decreased renal clearance of vancomycin results in prolonged thrombocytopenia by antibody-mediated platelet destruction in the presence of vancomycin. Improvement in thrombocytopenia is achieved with the elimination of vancomycin. We describe a patient with end stage renal disease who experienced a protracted course of thrombocytopenia from vancomycin. We illustrate the mechanism of thrombocytopenia and the treatment modalities used by us and those described in literature. VIT is an important differential in patients with thrombocytopenia admitted to the hospital.

scholarly journals Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease

2007 ◽  
Vol 22 (7) ◽  
pp. 1920-1925 ◽  
Author(s):  
G. M. Pastores ◽  
E. Boyd ◽  
K. Crandall ◽  
A. Whelan ◽  
L. Piersall ◽  
...  
Keyword(s):  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
Agalsidase Alfa ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

2009 ◽  
Vol 25 (3) ◽  
pp. 769-775 ◽  
Author(s):  
A. Ortiz ◽  
B. Cianciaruso ◽  
M. Cizmarik ◽  
D. P. Germain ◽  
R. Mignani ◽  
...  
Keyword(s):  
Natural History ◽  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
History Data ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals MP045FAMILY SCREENING FOR FABRY DISEASE BASED ON MALE INDEX CASES WITH END-STAGE RENAL DISEASE

2016 ◽  
Vol 31 (suppl_1) ◽  
pp. i357-i357
Author(s):  
Cassiano A.B. Silva ◽  
José A. Moura Junior ◽  
Constança M.S. Cruz ◽  
Fellype C. Barreto
Keyword(s):  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage ◽  
Index Cases
Sign in / Sign up

Export Citation Format

Share Document