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Fabry disease-what cardiologists can learn from the nephrologist: a narrative review
Christine E Kurschat1,2,3
1Department II of Internal Medicine and Center for Rare Diseases Cologne, University Hospital of Cologne, Cologne, Germany.
Insights
Fabry disease (FD), a rare genetic disorder, causes kidney damage due to enzyme deficiency. Early detection and understanding of renal involvement are crucial for managing this progressive condition.
Area of Science:
- Genetics and Genetic Disorders
- Lysosomal Storage Diseases
- Nephrology
Background:
- Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity.
- Glycosphingolipid accumulation affects multiple organs, including the heart, kidneys, and nervous system.
- Cardiac manifestations include hypertrophy, arrhythmias, and heart failure, while renal involvement can lead to end-stage renal disease.
Purpose of the Study:
- To review the characteristics of renal involvement in Fabry disease.
- To outline diagnostic approaches for evaluating kidney impairment in FD patients.
- To discuss potential treatment strategies for managing renal complications.
Main Methods:
- Literature review of studies on Fabry disease and renal involvement.
- Analysis of clinical presentations and diagnostic criteria for FD-related kidney disease.
- Synthesis of current and emerging treatment options.
Main Results:
- Renal glycosphingolipid deposition is detectable early, with albuminuria as a key indicator.
- Kidney function decline and end-stage renal disease (ESRD) are potential outcomes.
- Clinical presentation and severity of renal involvement vary based on the specific GLA gene mutation and patient sex.
Conclusions:
- Renal involvement is a significant complication of Fabry disease, necessitating thorough evaluation.
- Early diagnosis and tailored management based on mutation type are essential for preserving kidney function.
- Further research into effective treatments is crucial for improving patient outcomes in FD.
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.
