Rickets

Description

The Paediatric Endocrinology Clinic provides diagnosis and follow-up for patients aged 0 to 18 years with an endocrine problem, that is, a problem involving hormones (growth, puberty, pituitary gland, thyroid, adrenal glands, sexual development and bone metabolism). Some rare endocrine diseases require follow-up by several specialists. The doctor–nurse partnership aims to empower patients to become experts in their condition by providing them with information and listening to them as effectively as possible. Communication between the various specialists takes place during multidisciplinary meetings at HUDERF, in collaboration with Belgian teams (Belgian Study Group for Pediatric Endocrinology). At European level, the centre is integrated into and actively participates in the ENDO-ERN network established by the European Commission. The idea is as follows: the European Union is a vast reservoir of knowledge and expertise, and it is ideas that travel, to the benefit of patients with rare diseases.

What is rickets?

Rickets encompasses a group of diseases that affect bone strength, mainly during growth. They are caused by insufficient absorption or impaired utilisation of calcium and phosphorus by the body, making the bones fragile. As a result, the bones may become deformed, causing bow legs, delayed growth, bone pain or muscle fatigue. Some forms of rickets are caused by nutritional deficiency, while others are genetic, meaning that they are passed down within the family. In these forms, the disease may affect other organs, such as the teeth, joints and muscles, depending on the type of rickets. Genetic forms may be caused by impaired utilisation of vitamin D (hypocalcaemic forms) or excessive phosphate loss through the kidneys (hypophosphataemic forms). The most common form of hypophosphataemic rickets is X-linked hypophosphataemic rickets (XLH), which may manifest in early childhood.

Care management

The management of rickets, particularly genetic forms, requires specialised follow-up. It begins with a comprehensive clinical assessment that takes into account growth, posture, walking, the presence of bone or muscle pain, and any possible extra-osseous manifestations. Laboratory and radiological tests help clarify the diagnosis and tailor management to each patient.

Treatment depends on the type of rickets. In hypocalcaemic forms, it is mainly based on an appropriate intake of calcium and vitamin D, often in its active form (calcitriol and alfacalcidol). In hypophosphataemic forms, treatment aims to correct the phosphate deficiency and improve bone mineralisation. For certain forms, such as X-linked hypophosphataemic rickets (XLH), specific treatments targeting the disease mechanism are now available.

Management also includes multidisciplinary support involving paediatricians, endocrinologists, orthopaedic surgeons, dentists and physiotherapists. Early diagnosis and regular follow-up help improve growth, limit bone deformities and optimise the quality of life of affected children and adults.

Advice

Following the prescribed treatment and attending follow-up appointments are essential for achieving optimal results. Appropriate physical activity promotes mobility and muscle development. It is recommended to report any persistent pain, changes in walking or unusual fatigue. In the event of severe pain, trauma or sudden loss of mobility, prompt medical consultation is advised. The team remains available to support families and answer their questions.

Transition to adulthood

Transition to a specialised adult service is planned from adolescence onwards to ensure continuity of care, promote the young person’s autonomy and maintain age-appropriate follow-up into adulthood.

Focus

Our centre is actively involved in research and in improving care practices for rare disorders of bone metabolism. The teams contribute to the development of national and international recommendations (guidelines), helping to define standards of care based on the most recent scientific evidence. This involvement enables medical advances to be rapidly integrated into daily clinical practice and provides patients and their families with access to high-quality, harmonised care based on the best available knowledge.