Rickets is characterized by disorders in the spine: deformities of the spine, osteomalacia, etc. It is a genetic disease.

Rickets is characterized by damage to the spine (spine) caused by a disorder in vitamin D metabolism.

These attacks are the consequence of hypocalcemia (abnormally low level of calcium in the blood) and are defined by:

• osteomalacia: primary mineralization defect in the bone system causing bone pain, particularly in the back and chest
• rickets (deformity of the spine)
• moderate hypophosphatemia: either a lower than normal phosphate level, causing muscle weakness and pain.

It is a rare disease, affecting nearly one in 2 children at birth.

The cause widely put forward in the context of this pathology is genetic. Indeed, rickets would be caused by mutations in a gene 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 within this gene then leads to inactivation of the enzyme and thus to a deficiency in the synthesis of Vitamin D.

The disease is transmitted in an autosomal recessive fashion. This means that the gene of interest is located on an autosome (non-sexual chromosome) and that it is necessary to present the two mutated alleles for the individual to develop the disease.

Rickets is an inherited genetic disease. Either, the presence of the disease within the family circle is essential in the development of such a pathology.

In addition, an individual developing rickets must have both mutated alleles, for the gene of interest. Or, that each of its two parents presents itself at least one mutated allele.

The general clinical signs of rickets result in:

• hypotonia: weakened muscle tone;
• tetany: muscle blockage
• convulsions;
• muscle weakness;
• stunted growth.

Over time, deformities in the spine may appear, but also in the legs.

In rarer cases, enamel hypoplasia (depletion of tooth enamel) can also be a significant sign.

Rickets is an inherited disease. This means that the main risk factor is the presence of the disease within the family circle.

Since the disease is autosomal recessive, it is therefore necessary that both parents have at least one mutated allele, for the disease to have a risk of transmission.

No curative treatment for rickets is currently available. However, medications can still improve the patient’s growth problems and rebalance the levels of calcium, phosphorus and other deficiencies.

The management then consists of a daily intake of vitamin D and calcitrol. Side effects can occur as a result of such treatment. Regular medical monitoring is therefore essential.