Hormone Therapy as A New Hope for Achondroplasia Patients
Abstract
Achondroplasia is a disorder of child bone growth due to gene mutation of growth factor receptor. Short stature is a major problem. Efforts to increase height are still a challenge. The method performed so far is the lengthening of the limbs with various complications and risks of re-surgery. A promising new alternative without surgery is the administration of growth hormone therapy. This review aims to find out the safety and effectiveness of hormone therapy. The review method used is a narrative review. The review results showed that growth hormone therapy is safe and effective. The review concludes that growth hormone therapy has been proven to be safe and effective in increasing the height of achondroplasia patients.
Keywords
Full Text:
PDFReferences
Backeljauw P, Cappa M, Kiess W, Law L, Cookson C, et al, 2021. Impact of short stature on quality of life: A systematic literature review. In Growth Hormone and IGF Research. 57–58 (2021).
Bhusal S, Gautam U, Phuyal R, Choudhary R, Manandhar SR, and Niroula A, 2020. Diagnosis of achondroplasia at birth: A case report. Journal of the Nepal Medical Association. 58(222): 119–121. https://doi.org/10.31729/jnma.4846
Ceroni JRM, Soarez DCdQ, Testai LdC, Kawahira RCH, Yamamoto GL,
Sugayama SMM et al, 2018. Natural History of 39 patients with achondroplasia. Clinics. 73: e324. https://doi.org/10.6061/clinics/2018/e324
Cianfarani S, 2019. Risk of cancer in patients treated with recombinant human growth hormone in childhood. Annals of Pediatric Endocrinology and Metabolism. 24(2): 92–98. https://doi.org/10.6065/apem.2019.24.2.92
Coi A, Santoro M, Garne E, Pierini A, Addor MC, et al, 2019. Epidemiology of achondroplasia: A population-based study in Europe. American Journal of Medical Genetics, Part A. 179(9): 1791–1798. https://doi.org/10.1002/ajmg.a.61289
Daugherty A, 2017. Achondroplasia: Etiology, clinical presentation, and management. Neonatal Network. 36(6): 337–342. https://doi.org/10.1891/0730-0832.36.6.337
Dossanov B, Trofimchuk V, Lozovoy V, Khmyzov S, Dossanova A, et al, 2021. Evaluating the long tubular bone distraction results with an advanced rod monolateral external fixator for achondroplasia. Scientific Reports. 11(1): 14727. https://doi.org/10.1038/s41598-021-94146-z
Foreman PK, van Kessel F, van Hoorn R, van den Bosch J, Shediac R, and Landis S, 2020. Birth prevalence of achondroplasia: A systematic literature review and meta-analysis. American Journal of Medical Genetics, Part A. 182(10): 2297–2316. https://doi.org/10.1002/ajmg.a.61787
Ginebreda I, Campillo-Recio D, Cárdenas C, Tapiolas J, Rovira P, and Isart A, 2019. Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: a 26-year experience. Musculoskeletal Surgery. 103(3): 257–262. https://doi.org/10.1007/s12306-018-0583-3
Harada D, Namba N, Hanioka Y, Ueyama K, Sakamoto N, et al, 2017. Final adult height in long-term growth hormone-treated achondroplasia patients. European Journal of Pediatrics. 176(7): 873–879. https://doi.org/10.1007/s00431-017-2923-y
Hertel NT, Eklöf O, Ivarsson S, Aronson S, Westphal O, et al, 2005. Growth hormone treatment in 35 prepubertal children with achondroplasia: A five-year dose-response trial. Acta Paediatrica, International Journal of Paediatrics. 94(10): 1402–1410. https://doi.org/10.1080/08035250510039982
Hosny GA, 2020. Limb lengthening history, evolution, complications, and current concepts. Journal of Orthopaedics and Traumatology. 21(1). https://doi.org/10.1186/s10195-019-0541-3
Ko KR, Shim JS, Chung CH, and Kim JH, 2019. Surgical results of limb lengthening at the femur, tibia, and humerus in patients with achondroplasia. CIOs Clinics in Orthopedic Surgery. 11(2): 226–232. https://doi.org/10.4055/cios.2019.11.2.226
Krstevska-Konstantinova M, Stamatova A, and Gucev Z, 2016. Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia. Medical Archives (Sarajevo, Bosnia, and Herzegovina). 70(2): 148–150. https://doi.org/10.5455/medarh.2016.70.148-150
Kubota T, Adachi M, Kitaoka T, Hasegawa K, Ohata Y et al, 2020. Clinical practice guidelines for achondroplasia. Clinical Pediatric Endocrinology. 29(1): 25–42. https://doi.org/10.1297/cpe.29.25
Legeai-Mallet L, and Savarirayan R, 2020. Novel therapeutic approaches for the treatment of achondroplasia. Bone. 141(August), 115579. https://doi.org/10.1016/j.bone.2020.115579
Miccoli M, Bertelloni S, and Massart F, 2016. Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. Hormone Research in Paediatrics. 86(1): 27–34. https://doi.org/10.1159/000446958
Ornitz DM, and Legeai-mallet L, 2018. Achondroplasia: Development, Pathogenesis, and Therapy. Developmental Dynamics. 246(4): 291–309. https://doi.org/10.1002/dvdy.24479.Achondroplasia
Paley D, 2021. Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia. Children. 8(7): 540. https://doi.org/10.3390/children8070540
Park KW, Garcia RN, Rejuso CA, Choi JW, and Song HR, 2015. Limb Lengthening in Patients with Achondroplasia. Yonsei Medical Journal. 56(6): 1656. https://doi.org/10.3349/ymj.2015.56.6.1656
Pauli RM, 2019. Achondroplasia: a comprehensive clinical review. Orphanet Journal of Rare Diseases. 14(1), 1. https://doi.org/10.1186/s13023-018-0972-6
Pfeiffer KM, Brod M, Smith A, Viuff D, Ota S, and Charlton RW, 2022. Functioning and well-being in older children and adolescents with achondroplasia: A qualitative study. American Journal of Medical Genetics, Part A. 188(2): 454–462. https://doi.org/10.1002/ajmg.a.62534
Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, et al, 2018. Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American Journal of Obstetrics and Gynecology. 219(6): 545–562.
https://doi.org/10.1016/j.ajog.2018.07.017
Shabtai L, Jauregui JJ, Herzenberg JE, Gesheff MG, Standard SC, and McClure PK, 2021. Simultaneous bilateral femoral and tibial lengthening in achondroplasia. Children. 8(9). https://doi.org/10.3390/children8090749
Supartono B, 2018. Hyaline Cartilage Regeneration on Osteochondral defects by Intraarticular Injection of Human Peripheral Blood CD34+ Cells, Hyaluronic Acid and Growth Factor in a Rat Model. Biomedical Journal of Scientific & Technical Research. https://doi.org/10.26717/bjstr.2018.07.001436
Supartono B, Utami AD, and Kusumaningsih P, 2021. Rakitis Nutrisi akibat Diet Vegan pada Ibu Hamil dan Menyusui. Jurnal Ilmiah Kedokteran Wijaya Kusuma. 10(2): 194–207. https://doi.org/10.30742/jikw.v10i2.1435
Swerdlow AJ, Cooke R, Albertsson-Wikland K, Borgström B, Butler G, et al, 2015. Description of the SAGhE cohort: A large European study of mortality and cancer incidence risks after childhood treatment with recombinant growth hormone. Hormone Research in Paediatrics. 84(3): 172–183. https://doi.org/10.1159/000435856
Swerdlow AJ, Cooke R, Beckers D, and Borgström B, 2018. Cancer risks in patients treated with growth hormone in childhood: the SAGhE European cohort study. J. Clin Endocrinol Metab. 102(5): 1661–1672. https://doi.org/10.1210/jc.2016-2046.Cancer
Tanaka H, Kubo T, Yamate T, Ono T, Kanzaki S, and Seino Y, 1998. Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. European Journal of Endocrinology. 138(3): 275–280. https://doi.org/10.1530/eje.0.1380275
Unger S, Bonafé L, and Gouze E, 2017. Current Care and Investigational Therapies in Achondroplasia. Current Osteoporosis Reports. 15(2): 53–60. https://doi.org/10.1007/s11914-017-0347-2
Wrobel W, Pach E, and Ben-Skowronek I, 2021. Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review. International Journal of Molecular Sciences. 22(11): 5573. https://doi.org/10.3390/ijms22115573
DOI: http://dx.doi.org/10.30742/jikw.v11i1.1601
Refbacks
- There are currently no refbacks.
Copyright (c) 2022 Basuki Supartono, Ayola Dewi Utami - Utami, Abyanka Rayhan - Fuadi
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Jurnal Ilmiah Kedokteran Wijaya Kusuma is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License