The case of a 54 year old man with Fabry's disease and extensive jejunal and colonic diverticulosis causing colonic stricture is presented. Histological examination of the resected colon revealed evidence of ceramide trihexose deposition in the myenteric nerve plexus. Colonic involvement in Fabry's disease has not been reported before.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2398882PMC
http://dx.doi.org/10.1136/pgmj.67.788.584DOI Listing

Publication Analysis

Top Keywords

fabry's disease
12
colonic involvement
8
involvement fabry's
8
colonic
4
disease case
4
case year
4
year man
4
man fabry's
4
disease extensive
4
extensive jejunal
4

Similar Publications

Background: Recent studies have also shown that clinical monitoring of quality of life (HRQoL) helps to recognize kidney transplant failure at an early stage.

Objectives: Given the potential of improving HRQoL for the long-term outcomes of kidney transplantation, we conducted a rapid review of the last 5 years of quality of life evaluation after adult allogeneic kidney transplantation.

Materials And Methods: A rapid evidence analysis was carried out using a literature search in MEDLINE in the period 2019-2024.

View Article and Find Full Text PDF

Rare case of Fabry disease cardiomyopathy and severe mitral stenosis.

Kardiol Pol

January 2025

Department of Cardiology and Electrotherapy, Silesian Center for Heart Diseases, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.

View Article and Find Full Text PDF

Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease.

Stem Cell Res

January 2025

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014 Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University& Shandong Academy of Medical Sciences, Ji'nan 250062 Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062 Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062 Shandong, China. Electronic address:

Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA). These induced pluripotent stem cells (iPSCs) were generated from a 10-year-old male patient's urine carrying the GLA c.1080_1082del Fabry disease mutation.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!