S.V. MALTSEV¹, A.I. SAFINA², T.V. MIHAJLOVA²

 ¹Federal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian Federation

²Kazan State Medical Academy — branch of FSBEI FPE RMACPE MON Russia

 Contact details:

Mihajlova T.V. — PhD (Medicine), Associate Professor of the Department of Pediatrics and Neonatology

Address: 36 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7-917-860-04-47, e-mail: tatiana.mih@mail.ru

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.

Key words: hypophosphatemic rickets, children, tubulopathy. 

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