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Swallowing dysfunction in patients with nephropathic cystinosis.

A E van Rijssel1, S Knuijt2, K Veys3

  • 1Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.

Molecular Genetics and Metabolism
|January 28, 2019
PubMed
Summary

Adults with nephropathic cystinosis experience significant dysphagia for solid food. This study highlights the need for regular swallowing function assessments using the Test of Mastication and Swallowing Solids (TOMASS) in cystinosis patients.

Keywords:
CystinosisDysphagia?NephropathicSwallowing dysfunction

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Area of Science:

  • Medical Science
  • Genetics
  • Rare Diseases

Background:

  • Nephropathic cystinosis is a rare genetic disorder affecting multiple organs.
  • Patients often develop systemic complications, including myopathy and swallowing dysfunction.
  • Dysphagia in cystinosis is recognized but not routinely investigated.

Purpose of the Study:

  • To assess solid food swallowing function in adult cystinosis patients.
  • To compare swallowing function in cystinosis patients with those having myotonic dystrophy type 1.
  • To evaluate the utility of the Test of Mastication and Swallowing Solids (TOMASS) for diagnosing dysphagia.

Main Methods:

  • Included 20 adult cystinosis patients and 10 myotonic dystrophy type 1 patients.
  • Utilized the Test of Mastication and Swallowing Solids (TOMASS) for swallowing assessment.
  • Compared patient data with normative values using t-tests and Mann-Whitney U tests.

Main Results:

  • Cystinosis patients showed significant differences in bite count, masticatory cycles, swallows, and total time compared to normal values.
  • Swallowing performance in cystinosis patients was comparable to that of myotonic dystrophy type 1 patients.
  • The TOMASS identified significant solid food dysphagia in adult cystinosis patients.

Conclusions:

  • Adults with nephropathic cystinosis exhibit significant dysphagia for solid food.
  • Clinicians should be aware of and screen for swallowing dysfunction in these patients.
  • The TOMASS is a simple, non-invasive tool suitable for regular monitoring of swallowing function in cystinosis care.