Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28510034
&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests
in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant
Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry
Registry
#MMPMID28510034
Wilcox WR
; Feldt-Rasmussen U
; Martins AM
; Ortiz A
; Lemay RM
; Jovanovic A
; Germain DP
; Varas C
; Nicholls K
; Weidemann F
; Hopkin RJ
JIMD Rep
2018[]; 38
(?): 45-51
PMID28510034
show ga
Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by
mutations in the gene encoding ?-galactosidase, GLA. In patients with Fabry
disease, glycosphingolipids accumulate in various cell types, triggering a range
of cellular and tissue responses that result in a wide spectrum of organ
involvement. Although variable, gastrointestinal symptoms are among the most
common and significant early clinical manifestations; they tend to persist into
adulthood if left untreated. To further understand the effects of sustained
enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal
symptoms in heterozygotes, a data analysis of female patients enrolled in the
Fabry Registry was conducted. To be included, females of any age must have
received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5
years. Measured outcomes were self-reported gastrointestinal symptoms (abdominal
pain, diarrhea). Outcomes at baseline and last follow-up, and their change from
baseline to last follow-up, were assessed. Relevant data were available for 168
female patients. Mean age at the start of ERT was 43 years and mean treatment
duration 5.7 years. Baseline pre-treatment abdominal pain was reported by 45% of
females and diarrhea by 39%. At last follow-up, 31% reported abdominal pain
(p < 0.01) and 27% diarrhea (p < 0.01). The results of this Fabry Registry
analysis suggest that while on sustained treatment with agalsidase beta
(1.0 mg/kg every 2 weeks), both abdominal pain and diarrhea improved in many
female patients with Fabry disease.
free
free
free
