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Relação da hipofosfatasia com alterações na cavidade oral: revisão narrativa
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Abstract(s)
A hipofosfatasia (HPP) é uma doença genética rara descoberta em 1948, causada por mutações no gene ALPL. Este gene codifica a enzima fosfatase alcalina não específica de tecido (TNSALP). A presença destas mutações leva à forte diminuição da atividade desta enzima nos ossos, tecidos dentários, fígado e rim, o que provoca uma diminuição da mineralização óssea.
A HPP encontra-se classificada em 6 categorias desde as formas mais severas até às mais suaves: perinatal letal, perinatal benigna, infantil, juvenil, adulta e odonto-hipofosfatasia (odonto-HPP).
Esta doença pode desenvolver-se em qualquer momento da vida e, nos casos mais graves, pode resultar em morte. A forma odonto-HPP da doença caracteriza-se pela perda precoce dos dentes e por anomalias nos vários tipos de tecido dentário. Deste modo, o diagnóstico é multidisciplinar sendo o papel do dentista primordial.
As terapias de substituição enzimática (ERT) demonstraram ser eficazes, mas a investigação ainda está em curso.
Este trabalho consiste numa revisão narrativa sobre a relação da HPP com alterações na cavidade oral.
Hypophosphatasia (HPP) is a rare genetic disorder discovered in 1948, caused by mutations in the ALPL gene. This gene encodes the enzyme non-tissue specific alkaline phosphatase (TNSALP). The presence of these mutations leads to the strong decrease in the activity of this enzyme in bones, dental tissues, liver and kidneys, that provokes decreased bone mineralization. HPP is classified into 6 categories from severe to mild forms: perinatal lethal, perinatal benign, infantile, juvenile, adult and odonto-hypophosphatasia (odonto-HPP). This disease can develop at any time in life and, in the most severe cases, can result in death. The odonto-HPP form of the disease is characterized by early tooth loss and abnormalities in the various types of tooth tissue. In this way, the diagnosis is multidisciplinary being crucial the role of the dentist. Enzyme replacement therapies (ERT) have been shown to be effective, but research is still ongoing. This paper consists of a narrative review on the relationship of HPP with changes in the oral cavity.
Hypophosphatasia (HPP) is a rare genetic disorder discovered in 1948, caused by mutations in the ALPL gene. This gene encodes the enzyme non-tissue specific alkaline phosphatase (TNSALP). The presence of these mutations leads to the strong decrease in the activity of this enzyme in bones, dental tissues, liver and kidneys, that provokes decreased bone mineralization. HPP is classified into 6 categories from severe to mild forms: perinatal lethal, perinatal benign, infantile, juvenile, adult and odonto-hypophosphatasia (odonto-HPP). This disease can develop at any time in life and, in the most severe cases, can result in death. The odonto-HPP form of the disease is characterized by early tooth loss and abnormalities in the various types of tooth tissue. In this way, the diagnosis is multidisciplinary being crucial the role of the dentist. Enzyme replacement therapies (ERT) have been shown to be effective, but research is still ongoing. This paper consists of a narrative review on the relationship of HPP with changes in the oral cavity.
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Keywords
Hipofosfatasia TNSALP Odonto-hipofosfatasia Hypophosphatasia Odonto-hypophosphatasia