ReviewCardiovascular diagnosis and therapy2021
Fabry disease-what cardiologists can learn from the nephrologist: a narrative review.
Review in Cardiovascular diagnosis and therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy.Frontiers in genetics · 2025Article
- Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities.Investigative ophthalmology & visual science · 2024Article
- A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice.Kidney research and clinical practice · 2023Article
- Novel enhancer mediates theFrontiers in genetics · 2023Article
- Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.International journal of nephrology and renovascular disease · 2023Review
- Quality of life in patients with Fabry's disease: a cross-sectional study of 86 adults.Cardiovascular diagnosis and therapy · 2022Article
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.