Otolaryngological findings in mucopolysaccharidosis

Cingi, Cemal

doi:10.2399/jmu.2014003001

Cited by 4 publications

(3 citation statements)

References 37 publications

(46 reference statements)

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“…Among patients with MPS there is a common issue of a narrowing of the upper respiratory tract, which may be a cause of OSAS (obstructive sleep apnoea syndrome). Researchers say that the causes might be: adenotonsillar hypertrophy (due to accumulation of GAG inside tonsils), short neck, and joint instability of cervical vertebrae [11,36,42]. Due to the extremely sticky secretion of mucous glands and the impaired mucociliary transport system of respiratory epithelium, patients with MPS are predisposed to recurrent infections of the upper respiratory tract, including paranasal sinuses [36,42].…”

Section: Gaucher's Diseasementioning

confidence: 99%

“…Mucopolysaccharidosis also has a significant impact on the oral cavity. It usually manifests itself in the form of macroglossia, which along with putting a tongue to the front, between the dental arches, is a factor that causes maloclusion [4,11]. In the studies of Ponciano et al the research group consisted of 12 people with diagnosed MPS (without specifying its specific type) and a 12-person control group.…”

Section: Alpha-mannosidosismentioning

confidence: 99%

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Manifestations of lysosomal storage diseases in the stomatognathic system – a literature review

Machut¹,

Zółtowska²

2019

jos

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The stomatognathic system comprises the mouth, teeth, jaws, pharynx, and related structures associated with mastication, swallowing, and speech. Lysosomal storage diseases (LSDs) are metabolic disorders, which cause an increase of systemic complication and are even life-threatening. They may also lead to a change in the socioeconomic conditions of people suffering from these diseases, and their families. LSDs are inherited in an autosomal recessive pattern. Many syndromes of lysosomal diseases represent anomalies of the craniofacial region and in the oral cavity. For the vast majority, treatment is not required, but for some of them it is necessary to reconstruct the morphology or the proper function. The appearance of the face can have a negative impact on the quality of the patient's life. Breathing, chewing, speaking, smiling, and mimic movements are the consequences of facial deformities. Irregularities of the sensory organs can sometimes be observed-especially of hearing, smell, and sight. The most frequent manifestations of lysosomal diseases in the oral cavity are malocclusion, macroglossia, tooth eruption, and development disorders as well as periodontal disorders, for instance hypertrophy of the gingiva. The population of people suffering from lysosomal diseases often have specific oral health needs compared to the population of generally healthy people.

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Section: Gaucher's Diseasementioning

confidence: 99%

Section: Alpha-mannosidosismentioning

confidence: 99%

Manifestations of lysosomal storage diseases in the stomatognathic system – a literature review

Machut¹,

Zółtowska²

2019

jos

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“…After Charles Hunter and Gertrud Hurler first reported MPS in patients in 1917 and 1919, with the metabolic disorders now bearing their names (MPS I: Hurler syndrome, MPS II: Hunter syndrome), subsequent MPS types have been assigned numbers and eponyms loosely associated with the chronology and origin of their report [8]. Eleven enzymatic deficits are known to be responsible for seven different types of MPS along with the identification of the gene mutations responsible for the disease in the 1970s [9].…”

Section: Introductionmentioning

confidence: 99%

Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies

Nan

Park

Maeng

2020

BioMed Research International

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Purpose. Mucopolysaccharidoses (MPS) are group of inherited lysosomal storage diseases caused by mutations of enzymes involved in catalyzing different glycosaminoglycans (GAGs). MPS I and MPS II exhibit both somatic and neurological symptoms with a relatively high disease incidence. Hematopoietic stem cell therapy (HSCT) and intravenous enzyme replacement therapy (ERT) have had a significant impact on the treatment and comprehension of disease. This review is aimed at providing a comprehensive evaluation of the pros and cons of HSCT and ERT, as well as an up-to-date knowledge of new drugs under development. In addition, multiple disease management strategies for the uncontrollable manifestations of MPS I and MPS II to improve patients’ quality of life are presented. Findings. Natural history of MPS I and MPS II shows that somatic and neurological symptoms occur earlier in severe forms of MPS I than in MPS II. ERT increases life expectancy and alleviates some of the somatic symptoms, but musculoskeletal, ophthalmological, and central nervous system (CNS) manifestations are not controlled. Additionally, life-long treatment burdens and immunogenicity restriction are unintended consequences of ERT application. HSCT, another treatment method, is effective in controlling the CNS symptoms and hence has been adopted as the standard treatment for severe types of MPS I. However, it is ineffective in MPS II, which can be explained by the relatively late diagnosis. In addition, several factors such as transplant age limits or graft-versus-host disease in HSCT have limited its application for patients. Novel therapies, including BBB-penetrable-ERT, gene therapy, and substrate reduction therapy, are under development to control currently unmanageable manifestations. BBB-penetrable-ERT is being studied comprehensively in the hopes of being used in the near future as a method to effectively control CNS symptoms. Gene therapy has the potential to “cure” the disease with a one-time treatment rather than just alleviate symptoms, which makes it an attractive treatment strategy. Several clinical studies on gene therapy reveal that delivering genes directly into the brain achieves better results than intravenous administration in patients with neurological symptoms. Considering new drugs are still in clinical stage, disease management with close monitoring and supportive/palliative therapy is of great importance for the time being. Proper rehabilitation therapy, including physical and occupational therapy, surgical intervention, or medications, can benefit patients with uncontrolled musculoskeletal, respiratory, ophthalmological, and neurological manifestations.

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Difficulties Experienced by Turkish Parents and Their Coping Strategies: Children With Mucopolysaccharidosis

Zengin

Yayan

Akıncı

2020

Journal of Pediatric Nursing

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Otolaryngological findings in mucopolysaccharidosis

Cited by 4 publications

References 37 publications

Manifestations of lysosomal storage diseases in the stomatognathic system – a literature review

Manifestations of lysosomal storage diseases in the stomatognathic system – a literature review

Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies

Difficulties Experienced by Turkish Parents and Their Coping Strategies: Children With Mucopolysaccharidosis

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