CLINICAL CASE OF FAMILIAL HYPOPHOSPHATEMIC RICKETS IN A CHILD

X-linked hypophosphatemic rickets is an inherited disorder caused by mutations in the PHEX gene (phosphate- regulating proteinwith homology to endopeptidases on the X chromosome). Chronic hypophosphatemia leads to impaired bone mineralization, resulting ingrowth retardation, rickets, and damage to other organs and systems, including maxillofacial abnormalities. Clinically, these manifestationsbecome signifi cant when the child begins to walk.The purpose of the study is to describe a clinical case of congenital hypophosphatemic rickets in a child.Material and methods of the study. clinical, biochemical, genetic and imaging examination of the child Results of the study. The article presents a clinical case of a 9-year-old boy, who was adopted after being removed from an unfavorable psychosocial environment and admitted to the Odesa Regional Children’s Clinical Hospital to clarify the diagnosis and treatment tactics.On admission, the mother reported complaints of delayed psychophysical development, memory impairment, psychosocial dysfunction, deformities of the bones of the upper and lower extremities, chest and skull. The examination revealed a decrease in the level of phosphorus in the blood, increased levels of parathyroid hormone and alkaline phosphatase, and signs of osteomalacia in the x-ray. The diff erential diagnosis included vitamin D-dependent rickets, mucopolysaccharidosis, nanism, hyperparathyroidism, and metaphyseal chondrodystrophy. Based on the data obtained, the fi nal diagnosis was made and appropriate treatment was prescribed.Conclusions. The expanded diff erential diagnosis of rickets with rickets-like diseases contributed to the correct clinical diagnosis. Timely pathogenetic treatment reduces renal tubular phosphorus loss, improves mineral metabolism and quality of life. Prescription of growth hormone will reduce the manifestations of nanism.