Swallowing dysfunction in patients with nephropathic cystinosis

Autor: Elena Levtchenko, A.E. van Rijssel, Mirian C. H. Janssen, S. Knuijt, Koenraad Veys
Rok vydání: 2018
Předmět:
0301 basic medicine
Male
Pediatrics
Endocrinology
Diabetes and Metabolism
Cystinosis
CHILDREN
Research & Experimental Medicine
030105 genetics & heredity
Biochemistry
chemistry.chemical_compound
0302 clinical medicine
Endocrinology
Myotonic Dystrophy
Genetics & Heredity
digestive
oral
and skin physiology
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Dysphagia
Middle Aged
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Medicine
Research & Experimental
Female
Kidney Diseases
medicine.symptom
Life Sciences & Biomedicine
Adult
medicine.medical_specialty
Neuromuscular disease
Cysteamine
Myotonic dystrophy
Endocrinology & Metabolism
03 medical and health sciences
Young Adult
Swallowing
Nephropathic Cystinosis
Genetics
medicine
otorhinolaryngologic diseases
Humans
Myopathy
Molecular Biology
Science & Technology
business.industry
Swallowing dysfunction
medicine.disease
Deglutition
chemistry
Nephropathic
Mastication
business
Deglutition Disorders
030217 neurology & neurosurgery
Zdroj: Molecular Genetics and Metabolism, 126, 4, pp. 413-415
Molecular Genetics and Metabolism, 126, 413-415
ISSN: 1096-7206
1096-7192
Popis: INTRODUCTION: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is mentioned in patients with cystinosis, but in clinical practice swallowing investigations are only performed when the patient has complaints. The aim of this study was to explore the swallowing function in patients with cystinosis by use of the Test of Mastication and Swallowing Solids (TOMASS), and to compare their performance with patients with myotonic dystrophy type 1 - a neuromuscular disease in which dysphagia for solid food is a known problem. METHODS: Twenty adult patients with cystinosis (11 men and 9 women, range 19-51 years) and 10 patients with myotonic dystrophy type 1 (5 men and 5 women, range 20-60 years) were included. All cystinosis patients were treated with cysteamine. Data of the two groups were compared with normative data using independent-samples t-tests. In case the variables were not normally distributed, the non-parametric Mann-Whitney U test was used. RESULTS: There was a significant difference in the number of bites, masticatory cycles, swallows and total time between the normal values and cystinosis patients. The results of the cystinosis patients were comparable to those of the patients with myotonic dystrophy. DISCUSSION AND CONCLUSION: Adult patients with cystinosis have significant dysphagia for solid food. Clinicians treating these patients should be aware of this fact. The TOMASS can be performed easily in clinical practice to investigate whether patients with cystinosis have swallowing dysfunction. The swallowing dysfunction can now be diagnosed by use of a non-invasive, very simple, non-harmful test. It can be discussed whether this should be added to the regular care scheme of cystinosis patients in order to regularly follow-up swallowing function. ispartof: MOLECULAR GENETICS AND METABOLISM vol:126 issue:4 pages:413-415 ispartof: location:United States status: published
Databáze: OpenAIRE
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