Universität zu Köln

Kurschat, Christine E. (2021). Fabry disease-what cardiologists can learn from the nephrologist: a narrative review. Cardiovisc. Diagn. Ther., 11 (2). S. 672 - 683. SHATIN: AME PUBL CO. ISSN 2223-3660

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Abstract

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting in decreased or absent activity of the lysosomal enzyme alpha-galactosidase A. Subsequent accumulation of storage material can occur in virtually all cells of the body. Organs and structures affected by storage material deposition include the heart, the kidney, the central and peripheral nervous system and the cornea of the eyes. Progressive cardiac hypertrophy, arrhythmias, cardiac fibrosis, heart failure and cardiac death are common characteristics of cardiac involvement. Renal depositions of glycosphingolipids are already detectable in childhood. An early clinical sign of Fabry renal involvement is albuminuria, often preceding a detectable loss of kidney function. Later in life Fabry patients may exhibit a progressive decline of their kidney function leading to end-stage renal disease (ESRD). The clinical presentation of Fabry patients regarding renal involvement depends on the underlying mutation in the GLA gene. Classically affected males typically show a gradual decrease in kidney function, patients with mild or late onset mutations as well as a subgroup of females may exhibit only little or no renal abnormalities. This review summarizes the characteristics of renal involvement in FD, the diagnostics necessary to evaluate the degree of renal impairment and possible treatment options.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kurschat, Christine E. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-569615
DOI:	10.21037/cdt-20-981
Journal or Publication Title:	Cardiovisc. Diagn. Ther.
Volume:	11
Number:	2
Page Range:	S. 672 - 683
Date:	2021
Publisher:	AME PUBL CO
Place of Publication:	SHATIN
ISSN:	2223-3660
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ENZYME REPLACEMENT THERAPY; AGALSIDASE-BETA THERAPY; RENAL PATHOLOGY; TRANSPLANTATION; FEMALES; NEPHROPATHY; PODOCYTURIA; PREVALENCE; CHILDREN; CYSTS Multiple languages Cardiac & Cardiovascular Systems Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/56961