ArticleJIMD reports2017
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis.Journal of child neurology · 2020Article
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Orphanet journal of rare diseases · 2018Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND
methodsPatients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry. All included patients had a filter paper blood spot sample taken that was subsequently analyzed enzymatically for MPS I, II, and VI.
results425 patients were included. 402 patients tested negative in the first test. 23 had inconclusive result whereof 18 was negative in a second test. The remaining five patients had two inconclusive tests each and were referred for further examination at the Center for Inherited Metabolic Diseases where the diagnosis was excluded. Thus, all included patients were negative for both MPS I, II and VI. DISCUSSION/
conclusionThough our sample size is relatively small, results indicate that MPS is not prevalent in a cohort of adult patients with monosymptomatic CTS, and that screening is not indicated in this setting.
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