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publicado em 22/12/2009 às 11h10:00
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Dentist identifies changes in bones of patients with rare genetic disease

A study conducted in Campinas is the first of its kind in Brazil to analyze data from patients with Gaucher's Disease

 
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Foto: Antoninho Perri/Unicamp
The dentists Flávia Gambareli Riquet, author of the doctoral thesis defended at the FOP
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The dentists Flávia Gambareli Riquet, author of the doctoral thesis defended at the FOP

The research was carried out at the Faculty of Dentistry of Piracicaba (FOP) detects changes in the maxilla and mandible of patients with Gaucher disease treated at the Center of Hematology (Blood Bank) of Unicamp. This is the first Brazilian study to examine the conditions oral and craniofacial growth and development of carriers of the rare genetic disease that has symptoms like changes in the viscera, blood and bones.

According to dentists Flávia Gambareli Riquet, author of the doctoral thesis defended at the FOP, the bone conditions of these patients were affected, suggesting a framework of osteopenia, which is the decrease in bone mineral density, the precursor to osteoporosis. Other data presented in the study, led by Professor Maria Beatriz Duarte Hawk, is the birth - or rash, in technical language - Early teeth of children affected by the disease.

The findings, according to Flavia, allow us to understand better the mechanism of the disease in adults and children. Because it is a rare disease, there was no Brazilian study focused on these aspects related to oral health and craniofacial abnormalities. Only the international literature are consulted but do not depict the specificities of the Brazilian population, the researcher explained that counted with the collaboration of the dental cirugiã Pizzigatti Maria Elvira Correa, responsible for patient care from the Blood Center.

In addition to clinical evaluation and complete oral examination of radiographs, Flávia applied a questionnaire to the 17 volunteers involved in the study. Eight were children and teenagers from seven to 15 years, and nine adults aged 27 to 53 years.

Basically, Gaucher Disease occurs from the mutation of a gene and therefore does not encode the enzymes of glycolipid. This, in turn, ends up being accumulated in the liver, spleen and also in bone marrow, causing the changes are evident. The main symptoms, the patient has anemia constant bleeding and enlargement of the spleen and liver.

For the treatment you need enzyme replacement in an intravenous form, held in long-term therapy, the Blood Center itself, but it can reverse the changes of blood and visceral organs. However, the conditions of the bones are difficult to reverse. Therefore, the importance of understanding how and when these variations occur. Children can express the changes in craniofacial growth and, thus, require constant monitoring, he said.

With regard to oral health of these patients, Flávia found that children with poor oral health, but some complications affect the quality of their lives. Already in adults, poor oral health examinations and detected a significant impact on quality of life.

Germany

Source: UNICAMP
   Palavras-chave:   Gaucher disease    Bones    Blood Bank    GOP    Unicamp    Flávia Gambareli Riquet      
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