Hypophosphatasis is a rare genetic disease that especially affects children, causing deformities and fractures in certain areas of the body and premature loss of baby teeth.
This disease is transmitted to children in the form of genetic inheritance and has no cure because it is the result of changes in a gene related to bone calcification and dental development, altering bone mineralization.
Hypophosphatasis can cause several changes in the body, including
In less severe cases of this disease, only mild symptoms such as fractures or muscle weakness may occur, which can lead to the diagnosis of the disease only in adulthood.
There are different types of this disease, including:
In the most severe cases, this disease can even lead to the child’s death and the severity of symptoms varies from person to person and depending on the type shown.
Hypophosphatasis is caused by mutations or changes in a gene related to bone calcification and dentary development, in this way there is a reduction in the mineralization of bones and teeth, depending on the type of disease can be dominant or recessive, transmitting to children in the form of genetic inheritance.
For example, when this disease is recessive and if both parents carry a single copy of the mutation (they have the mutation but have no symptoms of the disease), there is only a 25% chance that their children will develop the disease. On the other hand, if the disease is dominant and if only one parent has the disease, there may be a 50% or 100% chance that children will also be carriers.
In the case of perinatal hypophosphatasis, the disease can be diagnosed by performing an ultrasound, where deformities can be detected in the body.
On the other hand, in the case of childhood, juvenile or adult hypophosphatasis, the disease can be detected by x-rays identifying various skeletal changes caused by a deficiency in bone and tooth mineralization.
In addition, to complete the diagnosis of the disease, your doctor may also order urine and blood tests, and it is also possible to perform a genetic test that identifies the presence of the mutation.
There is no cure for hypophosphatemia, but some treatments such as physiotherapy to correct posture and strengthen additional oral hygiene muscles and care may be indicated by pediatricians to improve quality of life.
Babies with this genetic problem should be monitored from birth and hospitalization is usually necessary. Monitoring should be extended throughout life, so that your health can be evaluated periodically.