Fabry disease: raising awareness of the disease among physicians
Abstract Fabry disease is an X-linked inherited lysosomal disorder due to dysfunctions of the lysosomal enzyme alpha-galactosidase A, causing insufficient breakdown of glycolipids, which are stored in the eyes, kidneys, autonomic nervous system, skin, vessels and cardiovascular system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms. Clinical onset usually occurs in childhood, but many severe patients are diagnosed in adulthood. Females may be severely affected as males and both may die prematurely due to stroke, heart disease and renal failure. Enzyme replacement therapy can stabilize or reduce the progression of the disease. There is a need to improve the knowledge of Fabry disease, as an early therapy may prevent complications of the disease. This brief overview aims to raise awareness of the signs and symptoms of Fabry disease and to summarize the effects of treatments..
Medienart: |
E-Artikel |
---|
Erscheinungsjahr: |
2012 |
---|---|
Erschienen: |
2012 |
Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
---|---|
Enthalten in: |
Internal and emergency medicine - 7(2012), Suppl 3 vom: Okt., Seite 227-231 |
Sprache: |
Englisch |
---|
Beteiligte Personen: |
Carubbi, Francesca [VerfasserIn] |
---|
Links: |
Volltext [lizenzpflichtig] |
---|
BKL: | |
---|---|
Themen: |
Alpha-galactosidase A deficiency |
doi: |
10.1007/s11739-012-0821-x |
---|
funding: |
|
---|---|
Förderinstitution / Projekttitel: |
|
PPN (Katalog-ID): |
SPR02212117X |
---|
LEADER | 01000caa a22002652 4500 | ||
---|---|---|---|
001 | SPR02212117X | ||
003 | DE-627 | ||
005 | 20230519162555.0 | ||
007 | cr uuu---uuuuu | ||
008 | 201006s2012 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.1007/s11739-012-0821-x |2 doi | |
035 | |a (DE-627)SPR02212117X | ||
035 | |a (SPR)s11739-012-0821-x-e | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
082 | 0 | 4 | |a 610 |q ASE |
084 | |a 44.80 |2 bkl | ||
100 | 1 | |a Carubbi, Francesca |e verfasserin |4 aut | |
245 | 1 | 0 | |a Fabry disease: raising awareness of the disease among physicians |
264 | 1 | |c 2012 | |
336 | |a Text |b txt |2 rdacontent | ||
337 | |a Computermedien |b c |2 rdamedia | ||
338 | |a Online-Ressource |b cr |2 rdacarrier | ||
520 | |a Abstract Fabry disease is an X-linked inherited lysosomal disorder due to dysfunctions of the lysosomal enzyme alpha-galactosidase A, causing insufficient breakdown of glycolipids, which are stored in the eyes, kidneys, autonomic nervous system, skin, vessels and cardiovascular system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms. Clinical onset usually occurs in childhood, but many severe patients are diagnosed in adulthood. Females may be severely affected as males and both may die prematurely due to stroke, heart disease and renal failure. Enzyme replacement therapy can stabilize or reduce the progression of the disease. There is a need to improve the knowledge of Fabry disease, as an early therapy may prevent complications of the disease. This brief overview aims to raise awareness of the signs and symptoms of Fabry disease and to summarize the effects of treatments. | ||
650 | 4 | |a Anderson-Fabry disease |7 (dpeaa)DE-He213 | |
650 | 4 | |a Diagnosis |7 (dpeaa)DE-He213 | |
650 | 4 | |a Alpha-galactosidase A deficiency |7 (dpeaa)DE-He213 | |
650 | 4 | |a Enzyme replacement therapy |7 (dpeaa)DE-He213 | |
650 | 4 | |a Online Mendelian Inheritance in Man (OMIM) number 301500 |7 (dpeaa)DE-He213 | |
700 | 1 | |a Bonilauri, Lisa |e verfasserin |4 aut | |
773 | 0 | 8 | |i Enthalten in |t Internal and emergency medicine |d Milan : Springer Milan, 2006 |g 7(2012), Suppl 3 vom: Okt., Seite 227-231 |w (DE-627)SPR022112723 |w (DE-600)2378342-4 |x 1970-9366 |7 nnns |
773 | 1 | 8 | |g volume:7 |g year:2012 |g number:Suppl 3 |g month:10 |g pages:227-231 |
856 | 4 | 0 | |u https://dx.doi.org/10.1007/s11739-012-0821-x |z lizenzpflichtig |3 Volltext |
912 | |a GBV_USEFLAG_A | ||
912 | |a GBV_SPRINGER | ||
912 | |a SSG-OLC-PHA | ||
936 | b | k | |a 44.80 |q ASE |
951 | |a AR | ||
952 | |d 7 |j 2012 |e Suppl 3 |c 10 |h 227-231 |