DOI: 10.32364/2618-8430-2020-3-2-136-141
Hypophosphatasia in children. Three faces of one disease
S.A. Boykov1, I.Yu. Chernyak1, N.S. Shatokhina1, E.Yu. Gurkina2, N.A. Borodina3, E.F. Chelabova3, S.A. Epoeva3
1Children’s Regional City Hospital, Krasnodar, Russian Federation
2V.A. Almazov National Medical Research Center, St. Petersburg, Russian Federation
3Children’s Hospital of the city of Armavir, Armavir, Russian Federation
Hypophosphatasia (HPP) is a rare multisystem inherited metabolic disorder caused by mutations in ALPL gene that encodes tissue nonspecific alkaline phosphatase responsible for bone mineralization. HPP is characterized by impaired bone mineralization, skeletal abnormalities, and systemic manifestations which result in significant morbidity and mortality. Clinical presentations of HPP vary greatly. Early (perinatal and infantile) HPP is characterized by the most severe symptoms, i.e., respiratory and neurological disorders are of crucial importance being the leading causes of death. Progressive skeletal impairment, rickets-like deformities, reduced mobility, and severe disability are typical of childhood-onset HPP. The biochemical hallmark of HPP is low alkaline phosphatase (ALP) activity. HPP diagnosis is verified by clinical symptoms in combination with persistently low ALP activity (adjusted for age and sex). Molecular genetic test to identify ALPL gene mutation is performed as needed. Three case reports addresses authors’ experience with the diagnosis and treatment for HPP.
Keywords: hypophosphatasia, case series, alkaline phosphatase, impaired bone mineralization, asfotase alfa.
For citation: Boykov S.A., Chernyak I.Yu., Shatokhina N.S. et al. Hypophosphatasia in children. Three faces of one disease. Russian Journal of Woman and Child Health. 2020;3(2):–141. DOI: 10.32364/2618-8430-2020-3-2-136-141.
2. Mornet E. Genetics of hypophosphatasia. Archives de Pédiatrie. 2017;24(5):5S51–5S56. DOI: 10.1016/S0929-693X (18) 30014-9.
3. Baranov A.A., Namazova-Baranova L.S., Savostyanov K.V. et al. Clinical recommendations for the diagnosis and treatment of hypophosphatasia in children. Pediatricheskaya farmakologiya. 2016;13(6):539–543 (in Russ.).
4. Orimo H. Pathophysiology of hypophosphatasia and the potential role of asfotase alfa. Ther Clin Risk Manag. 2016;12:777–786. DOI: 10.2147/TCRM.S87956.
5. Taketani T. Neurological symptoms of hypophosphatasia. Neuronal Tissue-Nonspecific Alkaline Phosphatase (TNAP). Springer, Dordrecht, 2015. DOI: 10.1007/978-94-017-7197-9_14.
6. Kiselnikova L.P., Kalinichenko N. Yu., Kulguskin I. Yu., Vislobokova E.V. Dental problems in children with hypophosphatasia. Stomatologiya detskogo vozrasta i profilaktika. 2016;15(4):36–38 (in Russ.).
7. Mornet E., Nunes M.E. Hypophosphatasia. GeneReviews. University of Washington, Seattle; 2016.
8. Whyte M.P., Leung E., Wilcox W.R. et al. Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. The Journal of pediatrics. 2019;209:116–124.e4. DOI: 10.1016/j.jpeds.2019.01.049.
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