- Main Changes caused by Hypophosphatasia
- Types of Hypophosphatasia
- Causes of Hypophosphatasia
- Diagnosis of Hypophosphatasia
- Treatment of Hypophosphatasia
Hypophosphatasia is a rare genetic disease that affects especially children, which causes deformations and fractures in some regions of the body and premature loss of baby teeth.
This disease is passed on to children in the form of genetic inheritance and has no cure, as it is the result of changes in a gene related to bone calcification and tooth development, impairing bone mineralization.
Main Changes caused by Hypophosphatasia
Hypophosphatasia can cause several changes in the body that include:
- Emergence of deformations in the body such as elongated skull, enlarged joints or reduced body stature; Fractures in several regions; Premature loss of baby teeth; Muscle weakness; Difficulty breathing or speaking; Presence of high levels of phosphate and calcium in the blood.
In less severe cases of this disease, only mild symptoms such as fractures or muscle weakness may appear, which can cause the disease to be diagnosed only in adulthood.
Types of Hypophosphatasia
There are different types of this disease, which include:
- Perinatal hypophosphatasia - it is the most serious form of the disease that appears soon after birth or when the baby is still in the mother's belly; Infant hypophosphatasia - which appears during the child's first year of life; Juvenile hypophosphatasia - which appears in children at any age; Adult hypophosphatasia - which appears only in adulthood; odonto hypophosphatasia - where there is premature loss of baby teeth.
In the most severe cases, this disease can even cause the child's death and the severity of the symptoms varies from person to person and according to the type manifested.
Causes of Hypophosphatasia
Hypophosphatasia is caused by mutations or changes in a gene related to bone calcification and tooth development. In this way, there is a reduction in the mineralization of bones and teeth. Depending on the type of the disease, it can be dominant or recessive, being passed on to the 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 do not show 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 the children will also be carriers.
Diagnosis of Hypophosphatasia
In the case of perinatal hypophosphatasia, the disease can be diagnosed by performing an ultrasound, where deformations in the body can be detected.
On the other hand, in the case of infantile, juvenile or adult Hypophosphatasia, the disease can be detected through radiographs where several skeletal changes caused by the deficiency in bone and teeth mineralization are identified.
In addition, to complete the diagnosis of the disease, the doctor may also ask for urine and blood tests, and there is also the possibility of carrying out a genetic test that identifies the presence of the mutation.
Treatment of Hypophosphatasia
There is no treatment to cure Hypophosphatasia, but some treatments such as Physiotherapy to correct posture and strengthen muscles and extra care in oral hygiene can be indicated by pediatricians to improve quality of life.
Babies with this genetic problem must be monitored from birth and hospitalization is usually necessary. The follow-up should extend throughout life, so that your health status can be regularly assessed.
