Rickets is characterized by disorders in the spine: deformities of the spine, osteomalacia, etc. This is a genetic disease.
Definition of rickets
Rickets is characterized by damage to the spine (spine), caused by a vitamin D metabolism disorder.
These disorders are the consequence of hypocalcemia (abnormally low level of calcium in the blood) and are defined by:
- osteomalacia: lack of primary mineralization in the bone system causing bone pain, particularly in the back and chest
- rachitic deformities (deformation of the spine)
- Moderate hypophosphatemia: a phosphate level below normal, causing muscle weakness and pain.
It is a rare disease affecting nearly one in 2,000 children at birth.
Causes of rickets
The cause largely put forward in the context of this pathology is genetic. Indeed, rickets is caused by mutations in an annoyance of interest: CYP27B1 (12q14). The latter plays a fundamental role in the production of an enzyme (particular protein): 1-alpha-hydroxylase. Finally, this enzyme is at the origin of the synthesis of Vitamin D.
A particular mutation in this gene, then leads to inactivation of the enzyme and thus a deficiency in the synthesis of Vitamin D .
Transmission of the disease is autosomal recessive. This means that the annoyance of interest lies on an autosome (non-sexual chromosome) and that it is necessary to present the two mutated alleles for the individual to develop the disease.
Who is affected by rickets?
Rickets is a genetic inherited disease. Or, the presence of the disease within the family circle is indispensable in the development of such pathology.
In addition, individual developing rickets must have both mutated alleles, for the annoyance of interest. That is, each of his two parents presents himself at least one mutated allele.
The symptoms of rickets
The general clinical signs of rickets result in:
- hypotonia: weakening of muscle tone;
- tetany: muscle blockage
- muscle weaknesses;
Over time, deformities in the spine may appear, but also in the legs.
In rare cases, enamel hypoplasia (depletion of tooth enamel) may also be a significant sign.
Risk factors for rickets
Rickets is a hereditary disease. This means that the main risk factor is the presence of the disease within the family circle.
As the disease is autosomal recessive, it is therefore necessary for both parents to have at least one mutated allele so that the disease has a risk of transmission.
How to treat rickets?
No cure for rickets is currently available. However, drugs can still improve the patient’s growth problems and rebalance calcium levels, phosphorus and other deficiencies.
The management consists of a daily intake of vitamin D and calcitrol. Side effects may occur as a result of such treatment. Regular medical monitoring is therefore essential.