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Clinical observation of a child with infantile hypophosphatasia on the background of enzyme replacement therapy
https://doi.org/10.21508/1027-4065-2025-70-5-79-83
Abstract
Hypophosphatasia is a rare hereditary disease caused by a deficiency of tissue-nonspecific alkaline phosphatase, leading to impaired mineralization of bones and teeth. The article presents a clinical case of a child with an infantile form of hypophosphatasia, manifested by delayed motor development, deformation of the lower extremities and premature loss of teeth. The diagnosis was confirmed by a molecular genetic study that revealed compound heterozygous mutations in the ALPL gene. Enzyme replacement therapy with asfotase alpha was prescribed, against the background of which positive dynamics were noted.
About the Authors
A. A. Kamalova
Kazan State Medical University; Republican Children’s Hospital
Russian Federation
Russian Federation
420012, Kazan; 420138, Kazan
R. F. Rakhmaeva
Kazan State Medical University; Republican Children’s Hospital
Russian Federation
Russian Federation
420012, Kazan; 420138, Kazan
L. R. Giniyatova
Family Clinic Medical Center
Russian Federation
Russian Federation
420064, Kazan
G. I. Sageeva
Republican Children’s Hospital
Russian Federation
Russian Federation
420138, Kazan
R. M. Sayfullina
Republican Children’s Hospital
Russian Federation
Russian Federation
420138, Kazan
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Review
For citations:
Kamalova A.A., Rakhmaeva R.F., Giniyatova L.R., Sageeva G.I., Sayfullina R.M. Clinical observation of a child with infantile hypophosphatasia on the background of enzyme replacement therapy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(5):79-83. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-5-79-83
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