MODELS AND METHODS IN MODERN SCIENCE
International scientific-online conference
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PROSPECTS FOR THE DEVELOPMENT OF A DIAGNOSTIC
ALGORITHM FOR THE MAIN CLINICAL SIGNS OF
MUCOPOLYSACCHARIDOSIS
K.Q.Sharofutdinov
A.N.Aripov
O.A.Aripov
Specialized Scientific and Practical Medical Center of Pediatrics of the Ministry of
Health of the Republic of Uzbekistan, Tashkent
https://doi.org/10.5281/zenodo.13911218
Introduction.
Mycopolysaccharidoses are a group of rare lysosomal
accumulation diseases that exhibit numerous organic and severe symptoms.
Although they are relatively rare, mucopolysaccharidoses are found all over the
world in various forms. The manifestation of this serious disease in childhood or
the appearance in children indicates a more serious problem Early diagnosis of
mucopolysaccharidosis at an asymptomatic stage can be effective for preserving
organic functions and improving results. However, delayed diagnosis is common
due to the latent onset of the disease and limitations of sensitive laboratory
parameters [1,2,3]. As a result, it is extremely important to study new diagnostic
methods based on molecular mechanisms and pathological changes caused by
mucopolysaccharidoses. In this regard, the presented manuscript examines the
main clinical signs specific to each type, which are most often found in the
diagnosis of mucopolysaccharidosis [4,5, 6].
The purpose of the study.
The main purpose of this presented
manuscript is to study the features of the main clinical signs specific to each type
in the diagnosis of mucopolysaccharidosis.
Materials and methods of research.
As an object for determining the
specificity of clinical signs characteristic of each type of mucopolysaccharidosis,
40 patients were selected whose diagnosis of mucopolysaccharidosis was
confirmed by clinical laboratory instrumental methods. Anatomical pathologies,
cognitive impairment, changes in visceral organs, structural and functional
changes in the organs of the oral cavity, occurring in 7 types of
mucopolysaccharidosis, were noted as the main clinical signs.
Results.
In studies, cognitive impairment was observed in 95% of
patients, visceral organ pathologies in 75% of patients, diseases related to the
nervous system in 80% of patients, and other types of pathologies were
observed in 55% of patients. At this stage, it should be noted that the same
patient may have several of the above symptoms at the same time. Also, low
growth, hearing loss and ligament rehydration were noted as characteristic
MODELS AND METHODS IN MODERN SCIENCE
International scientific-online conference
56
signs of all 7 types of mucopolysaccharidosis in patients. On the other hand, the
first 3 types of mucopolysaccharidosis were observed significantly more often
among the studied patients compared with the other types. The study analyzed
both common and differentiated clinical signs in order to determine the
specificity of clinical signs characteristic of all types of mucopolysaccharidosis
and occurring in each patient
Conclucion.
Thus, mucopolysaccharidosis is a serious and urgent disease for the
health care system and is often found in a genetic form. Detection of this disease
at an early stage is important for its treatment and improvement of the quality of
life of patients. Not only the types, but also the clinical signs of
mucopolysaccharidosis are diverse, which creates a number of difficulties and
problems in its diagnosis. Even in the course of the study, it was found that it is
with almost all types of clinical signs and in each patient that several signs are
observed. This, in turn, requires doctors to develop more optimal methods and
more careful study.
References:
1. Gaffke L, Pierzynowska K, Podlacha M, Brokowska J, Wegrzyn G. Changes in
cellular processes occurring in mucopolysaccharidoses as underestimated
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glycosaminoglycans: From mechanism to biological significance. Biochem Cell
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3. Del Longo A, Piozzi E, Schweizer F. Ocular features in mucopolysaccharidosis:
diagnosis and treatment. Ital J Pediatr. 2018; 44:125.
4. Barone R, Pel l ico A, Pit tala A, Gasper ini S. Neurobehavioral phenotypes of
neuronopathic mucopolysaccharidoses. Ital J Pediatr. 2018; 44:121.
5. Suarez-Guerrero JL, Gomez Higuera PJ, Arias Florez JS, Contreras-Garcia GA.
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Pediatr. 2016; 87:295-304.
6. Abdumalik Aripov Nigmatovich, Orifzhon Aripov Abdumalikovich, &
Kamoliddin Sharofutdinov Qayumzhon og’li. (2024). The Concept, Epidemiology,
Clinical Features and Diagnosis of Mucopolysaccharidosis. Research Journal of
Trauma and Disability Studies, 3(9), 113–117. Retrieved from
https://journals.academiczone.net/index.php/rjtds/article/view/3439
