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We read with interest the review by Chimenz and colleagues [1] focused on describing the patterns of kidney impairment in Fabry disease (FD), a rare X-linked lysosomal storage disorder often not well-recognized in clinical practice, either in primary or secondary care. Importantly, a frequently missed or delayed diagnosis of FD may be a major cause of morbidity and mortality in untreated patients due to polyorgan failure. Indeed, it is known that, in FD, kidney involvement may start during prenatal development and proteinuria become already manifest in childhood. Thus, identification of reliable biomarkers of FD nephropathy is essential for early therapeutic intervention.
In this respect, we would like to underline the potential clinical utility of urinary bikunin as a new biomarker of kidney impairment in adults with FD, and suggest its likely useful application for early diagnosis of FD in children [2, 3]. However, this novel potential urinary biomarker has been completely overlooked in the review by Chimenz and colleagues [1].
Bikunin is a small chondroitin sulfate proteoglycan with inhibitory activity against serine proteases involved in extracellular matrix stabilization. Several studies have associated high plasma and/or urine levels of this proteoglycan with various pathological conditions exhibiting chronic inflammation, including kidney disease.
Our study represents the first report showing that urine bikunin levels are significantly higher in FD patients with kidney impairment compared to healthy controls [2]. Notably, after sorting for the presence of only proteinuria (early kidney impairment) or overt kidney damage, no major differences were evidenced between the two subgroups of FD patients, indicating that the increased bikunin excretion is likely an early biochemical event occurring at the onset of kidney impairment. Although no children were included in our case study, some young patients with only proteinuria (aged 20 and 24 years) or overt kidney damage (aged 26 and 27 years) were studied, suggesting the potential usefulness of urine bikunin as an early biomarker of kidney impairment also in children and adolescents affected by FD, without overt kidney damage.
ReferencesChimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, Lacquaniti A (2022) Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol 37:95–103. https://doi.org/10.1007/s00467-021-05076-x
Lepedda AJ, Fancellu L, Zinellu E, De Muro P, Nieddu G, Deiana GA, Canu P, Concolino D, Sestito S, Formato M, Sechi G (2013) Urine bikunin as a marker of renal impairment in Fabry’s disease. Biomed Res Int 2013:205948. https://doi.org/10.1155/2013/205948
Levstek T, Vujkovac B, Trebusak Podkrajsek K (2020) Biomarkers of Fabry nephropathy: review and future perspective. Genes (Basel) 11:1091. https://doi.org/10.3390/genes11091091
Author informationAuthors and AffiliationsAuthorsAntonio Junior LepeddaGian Pietro SechiCorresponding authorEthics declarations Conflict of interestThe authors declare no competing interests.
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Cite this articleLepedda, A.J., Sechi, G.P. Urine bikunin and kidney involvement in Fabry disease. Pediatr Nephrol 37, 1933 (2022). https://doi.org/10.1007/s00467-022-05519-z
Received: 15 January 2022
Accepted: 23 February 2022
Published: 29 March 2022
Issue Date: August 2022
DOI: https://doi.org/10.1007/s00467-022-05519-z
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