• MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• enzymová substituční terapie MeSH
• hepatomegalie etiologie   MeSH
• lidé MeSH
• mukopolysacharidóza I * diagnóza   komplikace   terapie   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH

OBJECTIVES: The mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders with multisystemic and highly variable clinical manifestation. ENT symptoms are common and early signs of MPS. The most common ENT diagnoses are chronic/recurrent rhinosinusitis, acute otitis media, otitis media with effusion, hearing loss and airway obstruction. METHODS: A single-centre retrospective chart review of 61 patients (36 M/25F) with different MPS subtypes (MPS I (n = 15), MPS II (n = 10), MPS III (n = 17), MPS IV (n = 15) and MPS VI (n = 4)) was conducted. The age of ENT presentation and frequency of ENT symptoms, surgeries and their distribution among MPS subtypes was studied. The relationship between ENT presentation, first ENT surgery and the age of diagnosis was also evaluated. RESULTS: Median age at the first ENT manifestation was 2.8 years, median age at MPS diagnosis 4.1 years. The great majority of patients (90%) manifested at least one ENT diagnosis; often before the diagnosis of MPS (75%). Chronic/recurrent rhinosinusitis was the most prevalent ENT diagnosis (77%), followed by upper airway obstruction (65%) and hearing loss (53%). Chronic/recurrent rhinosinusitis was the first ENT symptom to appear (median age 2.2 years), followed by otitis media with effusion (3.7 years) and hearing loss (4.5 years). At least one ENT surgery was performed in 57% of patients; in 69% before MPS diagnosis was established. Median age of the first ENT surgery was 4.1 years. ENT symptoms and surgical procedures were earliest present in MPS II. CONCLUSIONS: Our study documents high and early occurrence of various otolaryngologic symptoms in MPS and thus highlights the role of ENT specialist in prompt diagnosis of these rare diseases and their long-term management.

• MeSH
• chronická nemoc MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mukopolysacharidóza I komplikace   diagnóza   MeSH
• mukopolysacharidóza II komplikace   diagnóza   MeSH
• mukopolysacharidóza III komplikace   diagnóza   MeSH
• mukopolysacharidóza IV komplikace   diagnóza   MeSH
• mukopolysacharidóza VI komplikace   diagnóza   MeSH
• mukopolysacharidózy komplikace   diagnóza   MeSH
• nedoslýchavost etiologie   MeSH
• obstrukce dýchacích cest etiologie   MeSH
• otitis media s výpotkem etiologie   MeSH
• otorinolaryngologické chirurgické výkony MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• rinitida etiologie   MeSH
• sinusitida etiologie   MeSH
• věkové faktory MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders. The underlying mechanism of MPS disorders are deficiency in specific enzymes which leads to accumulation of partially degraded glycosaminoglycans (GAGs) in various tissues. A wide variety of manifestations are reported but musculoskeletal complaints are common among them. In milder forms of MPS, musculoskeletal complaints are presenting symptoms. Delays in diagnosis due to unspecific and mild symptoms is common. Misdiagnosis of MPS as juvenile idiopathic arthritis and other inflammatory arthritis disorders is frequent. Early diagnosis and treatment prevents irreversible cellular damages and is a key factor in efficacy of enzyme replacement therapy. In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists' awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment.

• MeSH
• dítě MeSH
• lidé MeSH
• mukopolysacharidóza I komplikace   diagnóza   MeSH
• muskuloskeletální nemoci etiologie   MeSH
• opožděná diagnóza MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• MeSH
• dítě MeSH
• hlas MeSH
• mukopolysacharidóza I diagnóza   komplikace   MeSH
• poruchy řeči MeSH
• řečová terapie MeSH
• Check Tag
• dítě MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH