Phosphate diabetes: a clinical case of family hypophosphatemic rickets

Objective. To describe the clinical picture of the course of hypophosphatemic rickets in two members of the same family. Phosphate diabetes is a rare hereditary pathology of mineral and bone metabolism.

Materials and methods. There is presented a clinical picture of the course of hypophosphatemic rickets in two members of the same family.

Results. According to the results obtained, there is a clear difference in the severity of the disease course depending on the sex. The child's mother had a course of the disease with a late onset and complications from the lower extremities, but the patient was able to bear and give birth to a child on her own. The boy had an early detection, early progression of complications of the skeletal system with visual impairment and neurological symptoms (headaches, intracranial hypertension).

Conclusions. The clinical example is relevant for practitioners. It is necessary to develop algorithms for monitoring the complications of phosphate diabetes and searching for pathogenetic therapy.