Гипофосфатемический рахит у детей — клинические и генетические аспекты, подходы к терапии

Hypophosphatemic rickets (phosphate-diabetes) is a group of diseases associated with a defect in the reabsorption of phosphates in the proximal tubules, manifested by phosphaturia, hypophosphatemia and rickets deformities of the skeleton bones. Phosphate-diabetes has different genetic variants that determine the nature and severity of clinical manifestations. X-linked dominant hypophosphatemic rickets occurs most often (in 50-90% of cases). For the diagnosis, along with clinical characteristics, an important role is assigned to the study of partial renal functions, with the determination of clearance, excreted fraction of calcium and phosphates, as well as other indicators of calcium-phosphorus metabolism. Molecular genetic research helps to determine the form of the disease. Therapy for hypophosphatemic rickets should be differentiated depending on the type of disease. The timely appointment of an adequate pathogenetic therapy helps to slow down the formation of rickety deformities of the skeleton, positive growth dynamics, and an increase in physical activity.

Potentially Life-Threatening Phosphate Diabetes Induced by Ferric Carboxymaltose Injection: A Case Report and Review of the Literature

We report the case of a 45-year-old female patient who developed phosphate diabetes after administration of ferric carboxymaltose. Ten days after the second dose, she complained of intense fatigue and blood analysis showed a phosphate plasma level of 0.93 mg/dL with phosphate excretion rate of 23%. She received phosphate supplementation which resulted in phosphate clearance improvement which persisted for two months. We reviewed other cases described in the literature and would draw attention to this rare but potentially life-threatening side effect.