Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia
Nataliya Y. Kalinchenko,
Olga O. Golounina,
Tatiana A. Grebennikova,
Galina A. Melnichenko,
Anatoly N. Tiulpakov,
Zhanna E. Belaya 
Abstract
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients. HPP is classified into six forms according to the age of onset and severity of its clinical picture. The disease is caused by a reduced activity of the tissue nonspecific alkaline phosphatase (TNSALP) and elevated concentrations of pyrophosphates. Asfotase alfa is the only pathogenetic enzyme replacement therapy with recombinant human bone-targeted TNSALP approved for treatment of patients with perinatal, infantile and juvenile‐onset HPP. This treatment is associated with improved skeletal mineralization, respiratory function and overall survival in infants and young children with life-threatening hypophosphatasia. The world experience in application of recombinant alkaline phosphatase in adults is very limited. We present a clinical case that describes the first Russian experience in the use of asfotase alfa in an 18-year-old patient with late diagnosis of childhood-onset HPP.
About the Authors
Nataliya Y. Kalinchenko
Endocrinology Research Centre
Russian Federation
Russian Federation
MD, PhD
Olga O. Golounina
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Russian Federation
Russian Federation
Student, Medical faculty
Tatiana A. Grebennikova
Endocrinology Research Centre
Russian Federation
Russian Federation
MD, PhD
Galina A. Melnichenko
Endocrinology Research Centre
Russian Federation
Russian Federation
MD, PhD, Professor
Anatoly N. Tiulpakov
Endocrinology Research Centre
Russian Federation
Russian Federation
MD, PhD
Zhanna E. Belaya
Endocrinology Research Centre
Russian Federation
Russian Federation
MD, PhD
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Supplementary files
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1. Fig. 1. The appearance of the patient with hypophosphatasia. | |
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2. Fig. 2. MSCT of the thoracic and lumbar spine. | |
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3. Fig. 3. Reactions at the sites of subcutaneous injection of asphotase alpha. | |
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4. Рисунок 3. МСКТ грудного и поясничного отделов позвоночника. | |
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5. Рисунок 3. МСКТ грудного и поясничного отделов позвоночника. | |
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6. Рисунок 3. МСКТ грудного и поясничного отделов позвоночника. | |
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7. Рисунок 4. Реакции в местах подкожных инъекций асфотазы альфа. | |
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8. Рисунок 4. Реакции в местах подкожных инъекций асфотазы альфа. | |
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9. Рисунок 1. Внешний вид пациента с гипофосфатазией. | |
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10. Рисунок 3. МСКТ грудного и поясничного отделов позвоночника. | |
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11. Рисунок 4. Реакции в местах подкожных инъекций асфотазы альфа. | |
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For citations:
Kalinchenko N.Y., Golounina O.O., Grebennikova T.A., Melnichenko G.A., Tiulpakov A.N., Belaya Zh.E. Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia. Osteoporosis and Bone Diseases. 2019;22(1):24-29. (In Russ.)
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