ArticleJournal of inherited metabolic disease2008
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- New and Emerging Biomarkers in Chronic Kidney Disease.Biomedicines · 2025Review
- Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.Molecular omics · 2022Review
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
- Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.Journal of clinical medicine · 2021Review
- Review
- Medullary thick ascending limb impairment in the GlaFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.Diseases (Basel, Switzerland) · 2017Review
- Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?BMC nephrology · 2014Review
- A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy.PloS one · 2011Article
- Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.PloS one · 2010Article
- Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.Orphanet journal of rare diseases · 2009Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uromodulin (UMOD) malfunction has been found in a range of autosomal dominant tubulointerstitial nephropathies associated with hyperuricaemia, gouty arthritis, medullary cysts and renal failure-labelled as familial juvenile hyperuricaemic nephropathy, medullary cystic disease type 2 and glomerulocystic kidney disease. To gain knowledge of the spectrum of UMOD changes in various genetic diseases with renal involvement we examined urinary UMOD excretion and found significant quantitative and qualitative changes in 15 male patients at various clinical stages of Fabry disease. In untreated patients, the changes ranged from normal to a marked decrease, or even absence of urinary UMOD. This was accompanied frequently by the presence of aberrantly processed UMOD lacking the C-terminal part following the K432 residue. The abnormal patterns normalized in all patients on enzyme replacement therapy and in some patients on substrate reduction therapy. Immunohistochemical analysis of the affected kidney revealed abnormal UMOD localization in the thick ascending limb of Henle's loop and the distal convoluted tubule, with UMOD expression inversely proportional to the degree of storage. Our observations warrant evaluation of tubular functions in Fabry disease and suggest UMOD as a potential biochemical marker of therapeutic response of the kidney to therapy. Extended comparative studies of UMOD expression in kidney specimens obtained during individual types of therapies are therefore of great interest.
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