Lesch-Nyhan syndrome a dental approach: case report.
Аннотация
Lesch-Nyhan syndrome was first described in 1964. It is an X-linked recessive disorder caused by the absence of the enzyme hypoxanthine-guanine phosphoribosyl ransferase (HGPRT), which is involved in the metabolism of purines (nitrogenous bases that make up nucleotide). The absence of the enzyme leads to motor and neurological dysfunction, increased uric acid production, and mental retardation. One of the main characteristics of this syndrome is compulsive self-mutilation, such as biting the lips, tongue, and fingers. Men are the most affected and the prevalence is 1/380,000 live births. Several types of treatments are managed to reduce the manifestations of Lesch-Nyhan Syndrome, such as the placement of oral appliances, dental extractions, and drug therapy, the main one being Allopurinol, which can reduce the concentration of uric acid in the body. The role of the dentist becomes essential since teeth represent the main instrument for self-mutilation. In this sense, the article aims to describe the Lesch-Nyhan syndrome, the possible treatments and report a clinical case of a 4-year-old male patient who presented the syndrome.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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