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Clinical phenotypes of hypophosphatasia due to ALPL gene mutations and the effectiveness of enzyme replacement therapy with asphotase alpha in children
https://doi.org/10.21508/1027-4065-2024-69-6-97-106
Abstract
The article provides current information on the clinical forms of hypophosphatasia. The OMIM catalog lists 5 forms of hypophosphatasia: perinatal (lethal), infantile, childhood, adult, and odontohypophosphatasia. The ORPHA portal identifies 6 subtypes of the disorder, including adult, childhood, infantile, perinatal (lethal), and prenatal (benign) hypophosphatasia. M.E. Nunes (2023) identifies 7 forms of hypophosphatasia. International studies have established the pathogenesis, phenotypic variability, and severity of hypophosphatasia. A global consortium provides information on 446 mutation variants of the ALPL gene and 797 genotypes in pediatric and adult patients. The review presents updated diagnostic criteria for hypophosphatasia in children and adults with low alkaline phosphatase activity in the blood. Ten years of experience in 40 countries have proven the safety and efficacy of enzyme replacement therapy with Asfotase Alfa in children with perinatal, infantile, childhood hypophosphatasia, and odontohypophosphatasia. In the Russian Federation, enzyme replacement therapy with Asfotase Alfa for children with hypophosphatasia has been funded by the Circle of Kindness Foundation, established by the Ministry of Health, since 2021.
About the Authors
N. D. Savenkova
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
Saint Petersburg
Zh. G. Leviashvili
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
Saint Petersburg
References
1. OMIM. https://www.omim.org/search?index=entry&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc&-search=hypophosphatasia / Ссылка активна 12.09. 2024
2. Hypophosphatasie ©Orphanet 2023 https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=162&Disease_Disease_Search_diseaseGroup=436&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Hypophosphatasia&title=Hypophosphatasia&search=Disease_Search_Simple / Ссылка активна на 12.09.2024.
3. Клинические рекомендации: Гипофосфатазия. 2023 https://cr.minzdrav.gov.ru/recomend/770_1 / Ссылка активна на 12.09.2024.
4. Whyte M.P., Zhang F., Wenkert D., McAlister W.H., Mack K.E., Benigno M.C. et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years’ experience with 173 pediatric patients. Bone 2015; 75: 229–239. DOI: 10.1016/j.bone.2015.02.022.
5. Nunes M.E. Hypophosphatasia. 2007 Nov 20 [updated 2023 Mar 30. In: GeneReviews® [Internet. Editors Adam M.P., Feldman J., Mirzaa G.M., Pagon R.A., Wallace S.E., Bean L.J.H., Gripp K.W., Amemiya A. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID:20301329
6. Whyte M.P., Leung E., Wilcox W.R., Liese J., Argente J., Martos-Moreno G.Á., at al. Study 011–10 Investigators. Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. J Pediatr 2019; 209: 116–124.e4. DOI: 10.1016/j.jpeds.2019.01.049
7. Bacchetta J. Renal impairment in hypophosphatasia. Arch Pediatr 2017; 24: 5S93–5S95. DOI: 10.1016/S0929–693X(18)30023-Х.
8. Reis F.S., Lazaretti-Castro M. Hypophosphatasia: from birth to adulthood. Arch Endocrinol Metab 2023; 67(5): e000626. DOI: 10.20945/2359–3997000000626.
9. Fenn J.S., Lorde N., Ward J.M., Borovickova I. Hypophosphatasia. J Clin Pathol 2021; 74(10): 635–640. DOI: 10.1136/jclinpath-2021–207426
10. Pierpont E.I., Simmons J.H., Spurlock K.J., Shanley R., Sarafoglou K.M. Impact of pediatric hypophosphatasia on behavioral health and quality of life. Orphanet J Rare Dis 2021; 16(1): 80. DOI: 10.1186/s13023–021–01722–7
11. HPP gene variant registration portal. https://alplmutationdatabase.JKU.at / Ссылка активна 12.09.2024
12. Khan A.A., Brandi M.L., Rush E.T., Ali D.S., Al-Alwani H., Almonaei K. et al. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Erratum in: Osteoporos Int 2024; 35(5): 933–934. DOI: 10.1007/s00198–024–07048-x
13. Rush E., Brandi M.L., Khan A., Ali D.S., Al-Alwani H., Almonaei K. et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporos Int 2024;35(1):1–10. DOI: 10.1007/s00198–023–06843–2
14. Montero-Lopez R., Farman M.R., Högler F., Saraff V., Högler W. Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up. Horm Res Paediatr 2024; 5. DOI: 10.1159/000540692
15. Whyte M.P., McAlister W.H., Mack K.E., Mumm S., Madson K.L. Pediatric hypophosphatasia: avoid diagnosis missteps. J Bone Miner Res 2024; 39(6): 655–660. DOI: 10.1093/jbm098
16. Farman M.R., Rehder C., Malli T., Rockm an-Greenberg C., Dahir K., Martos-Moreno G.Á. et al. The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone 2024; 178: 116947. DOI: 10.1016/j.bone.2023.116947
17. Högler W., Langman C., Gomes da Silva H., Fang S., Linglart A., Ozono K. et al. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord 2019; 20: 80. DOI: 10.1186/s12891–019242
18. Vogt M., Girschick H., Schweitzer T., Benoit C., Holl-Wieden A., Seefried L. et al. Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis 2020; 15(1): 212. DOI: 10.1186/s13023–020–01500-x
19. Liu M., Liu M., Liang X., Wu D., Li W., Su C. et al. Clinical and genetic characteristics of hypophosphatasia in Chinese children. Orphanet J Rare Dis 2021; 16(1): 159. DOI: 10.1186/s13023–021–01798–1
20. Glotov O.S., Savostyanov K.V., Nagornova T.S., Chernov A.N., Fedyakov M.A., Raspopova A.N. et al. Clinical and Genetic Characteristics of Pediatric Patients with hypohosphatasia in the Russian Population. Int J Mol Sci 2022; 23(21): 12976. DOI: 10.3390/ijms232112976
21. Su N., Zhu M., Cheng X., Xu K., Kocijan R., Zhang H. Six ALPL gene variants in five children with hypophosphatasia. Ann Transl Med 2021; 9(10): 888. DOI: 10.21037/atm-21–2096
22. Tilden D.R., Sheehan J.H., Newman J.H., Meiler J., Capra J.A., Ramirez A. et al. Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL). J Endocr Soc 2020; 4(8): bvaa084. DOI: 10.1210/jendso/bvaa084
23. Martins L., Lessa L.G.F., Ali T.M., Lazar M., Kim C.A., Kantovitz K. et al. Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface. Int J Mol Sci 2022; 24(1): 282. DOI: 10.3390/ijms24010282
24. Savenkova N.D., Leviashvili Zh.G., Barsukova V.N. Clinical phenotypes and variants of mutations of the ALPL gene in children with hypophosphatasia, enzyme replacement therapy with Asfotase alfa: literature and clinical case data. Nefrologiya (Saint-Petersburg). 2023; 27(4): 11–21. (in Russ.) DOI: 10.36485/1561–6274–2023–27–4–11–21
25. Sugiyama Yu., Watanabe T., Tajika M., Matsuhashi T., Shimura M., Fushimi T. et al. Japanese single-center experience in the study of the efficacy and safety of asphotase alpha in hypophosphatasia in children. Orphanet J Rare Dis 2022; 17(1): 78. DOI: 10.1186/s13023–022–02230-y
26. Whyte M.P., Simmons J.H., Moseley S., Fujita K.P., Bishop N., Salman N.J. et al. Asfotase alfa for infants and young children with hypophosphatasia: 7-year outcomes of a single-arm, open-label, phase 2 extension trial. Lancet Diab Endocrinol 2019; 7(2): 93–105. DOI: 10.1016/S2213–8587(18)30307–3
27. Gurkina E.Yu., Voinova V.Yu., Kuzenkova L.M., Sosnina I.B., Vitebsk A.V., Kostik M.M. et al. Hypophosphatasia. Review of clinical cases published in the Russian Federation. RMZh 2021; 2: 42–48. (in Russ.)
28. Bowden S.A., Adler B.H. Asfotase alfa treatment for 1 year in a 16-year-old male with severe childhood hypophosphatasia. Osteoporos Int 2018; 29(2): 511–515. DOI: 10.1007/s00198–017–4267-x
29. Schroth R.J., Long C., Lee V.H.K., Alai-Towfigh H., Rockman-Greenberg C. Dental outcomes for children receiving asfotase alfa for hypophosphatasia. Bone 2021; 152: 116089. DOI: 10.1016/j.bone.2021.116089
30. Kishnani P.S., Rockman -Greenberg C., Rauch F., Bhatti M.T., Moseley S., Denker A.E. et al. Fife-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Bone 2019; 131: 149–162. DOI: 10.1016/j.bone.2019.12.011
31. Leviashvili Z.G., Savenkova N.D. Clinical phenotype, diagnostics, strategy of hypophosphatasia therapy due to ALPL gene mutations in pediatric and adult patients. Nefrologiya (Saint-Petersburg) 2021; 25(6): 16–26. (in Russ.) DOI: 10.36485/1561–6274–2021–25–6–16–26
32. Schindeler A., Ludwig K., Munns C.F. Enzyme replacement therapy for hypophosphatasia — The current paradigm. Clin Endocrinol (Oxf) 2024; 14. DOI: 10.1111/cen.15063
33. Shirinezhad A., Esmaeili S., Azarboo A., Tavakoli Y., Hoveidaei A.H., Zareshahi N. et al. Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review. Bone 2024; 188: 117219. DOI: 10.1016/j.bone.2024.117219
34. Alsarraf F., Ali D.S., Almonaei K., Al-Alwani H., Khan A.A., Brandi M.L. Hypophosphatasia: presentation and response to asfotase alfa. Osteoporos Int 2024; 35(4): 717–725. DOI: 10.1007/s00198–023–06943-z
35. Dahir K.M., Ing S.W., Deal C., Messali A., Bates T., Rush E.T. Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures. JBMR Plus 2024; 8(8): ziae062. DOI: 10.1093/jbmrpl/ziae062
36. Instructions for medical use of the medicinal product «AstraZeneca» in Russia. (in Russ.) https://astrazeneca.ru/content/dam/az-ru/downloads/preparations / Ссылка ак- тивна на 12.09.2024.
Review
For citations:
Savenkova N.D., Leviashvili Zh.G. Clinical phenotypes of hypophosphatasia due to ALPL gene mutations and the effectiveness of enzyme replacement therapy with asphotase alpha in children. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2024;69(6):97-106. (In Russ.) https://doi.org/10.21508/1027-4065-2024-69-6-97-106
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