DIAGNOSTICS AND ENZYME REPLACEMENT THERAPY OF CHILDHOOD-ONSET HYPOPHOSPHATASIA IN A 5-YEAR-OLD BOY

The article presents a clinical case report of hypophosphatasia, a rare congenital genetically determined disease diagnosed in a boy at the age of 3 years and 6 months. The diagnostic search took more than 2 years before the correct diagnosis was made, which is explained by the rarity of the disease and the lack of doctors awareness about it. The pathology was suspected on the basis of a combination of clinical evidence and characteristic complaints (early loss of primary teeth with an unchanged root, rickets-like skeletal deformities, motility disorders) in combination with a pathologically low level of alkaline phosphatase. The detection of mutations characteristic of the disease in the ALPL gene in the boy, his mother and father made it possible to finally confirm the diagnosis. The patient received a 7-month course of enzyme replacement therapy with Asfotase alfa, which significantly slowed down the progression of the disease and was not accompanied by the development of side effects. A feature of the patient's disease is the involvement of the urinary system in the pathological process, which is manifested by hypercalciuria, nephrocalcinosis and decreased renal function.