Hypophosphatasia: a family rare disease

E.S. Romanenko

South Ural State Medical University, Chelyabinsk

Hypophosphatasia (HPP) is a rare hereditary disease characterized by a very diverse clinical manifestations, which hinders a timely diagnosis. The article presents a description of a family HPP — two brothers of the same family had the disease manifested in childhood. The first clinical symptoms began to appear in the first year of life. Clinical manifestations were typical for HPP: rickets-like lower limb deformities, muscle weakness, poor exercise tolerance, early tooth loss. The symptoms of the disease were observed from various organs and systems, which significantly affected the physical health and patients quality of life. Despite the typical clinical manifestations, the diagnosis of HPP was established in the older brother at the age of 6 years. Difficulties in the diagnosis led to a delayed prescription of therapy. It is possible to suspect HPP on the basis of a combination of disease clinical signs and chara cteristic changes according to X-ray examination. For differential diagnosis, it is necessary to determine the activity of alkaline phosphatase. The diagnosis is confirmed by the detection of a mutation in the ALPL gene based on the results of a molecular genetics. Early diagnosis of HPP is essential for the timely prescription of enzyme replacement therapy with asphotase alpha.

Keywords: hypophosphatasia, alkaline phosphatase, ALPL gene, stridor, enzyme replacement therapy, asphotase alpha.

For citation: Romanenko E.S. Hypophosphatasia: a family rare disease. RMJ. 2022;1:36–40.