X-linked hypophosphatemic rickets is a disease that is usually inherited as an X-linked dominant trait. It is a metabolic disorder in which the body has low levels of phosphate and bones do not develop normally.
Symptoms of X-Linked Hypophosphatemic Rickets
Symptoms of hypophosphatemic rickets may include bone weakness, curvature of the limbs, short stature, tooth decay and muscle weakness. Some patients may also experience fatigue, shortness of breath and bone pain.
Frequency of Occurrence
X-linked hypophosphatemic rickets is a rare disorder. However, the true frequency of this condition is not known.
How Can Families Recognize?
Parents should consult a doctor if they notice symptoms such as short stature, curvature of the legs or abnormal changes in teeth in their child. Diagnosis can be made with blood tests and radiologic examinations.
Do they have types?
X-linked hypophosphatemic rickets is usually X-linked dominantly inherited, meaning that the affected gene is located on the X chromosome. In rare cases, there may also be an X-linked recessive form.
Treatment of X-Linked Hypophosphatemic Rickets
Hypophosphatemic rickets is treated with phosphate supplementation and vitamin D supplementation. This treatment can help support bone development and help control symptoms.
Do I Need Supportive Devices, Therapy?
In some cases, supportive devices (for example, ankle stabilizers) or physical therapy may be recommended to correct bone deformities. These treatments can help support the normal development of the bones.
In Which Situations and When Is Surgery Performed?
Surgical intervention is not usually a treatment option for X-linked hypophosphatemic rickets. However, if there are severe bone deformities or other complications, surgical intervention may be necessary.
What You Need to Know
X-linked hypophosphatemic rickets is usually an inherited disease and family history is important. Early diagnosis and treatment are important to maintain bone health and prevent possible complications. Long-term follow-up may be required and treatment requires a multidisciplinary approach.