Prevalência de amelogênese imperfeita em uma população colombiana: estudo retrospectivo
Publicado
Aug 27, 2021
Almetrics
Dimensions
Google Scholar
##plugins.themes.bootstrap3.article.details##
Resumo
Antecedentes: Amelogênese imperfeita (AI) é uma condição hereditária que afeta a estrutura do esmalte dentário e causa sensibilidade, predisposição a cáries e problemas psicológicos. Na Colômbia, sua frequência, magnitude, distribuição e comportamento são desconhecidos, por isso é necessário realizar estudos de prevalência para implementar ações preventivas. Objetivo: Determinar a prevalência de AI em pacientes atendidos nas clínicas da Pontificia Universidade Javeriana de Bogotá. Métodos: Foi realizado um estudo transversal observacional descritivo retrospectivo, cuja amostra incluiu 1.394 prontuários de pacientes atendidos entre janeiro de 2015 e dezembro de 2017. Resultados: A prevalência de AI foi de 0,6 %, correspondendo a 8 afetados, 4 homens e 4 mulheres com idade entre 9 e 10 anos. O fenótipo mais frequente foi hipoplásico em 7 pacientes (87,5%) e uma pessoa com fenótipo hipocalcificado (12,5 %). O taurodontismo foi a anomalia mais frequente nos 8 pacientes (100 %). Sete dos oito pacientes (87,5 %) tinham história familiar de AI. Todos os indivíduos possuíam nível socioeconômico médio-baixo e procediam de áreas urbanas. Conclusões: Este estudo é a primeira aproximação para determinar a prevalência de AI em um grupo da população colombiana. Embora a prevalência tenha sido baixa, é comparável aos achados de outros estudos.
Keywords
amelogenesis imperfecta, Colombia, dental anomalies, dentistry, enamel defects, prevalence, epidemiology, retrospective, geneticsamelogénesis imperfecta, anomalías dentarias, Colombia, defectos del esmalte dental, epidemiología, odontología, prevalencia, retrospectivo, genéticaamelogênese imperfeita, anormalidades dentárias, Colombia, defeitos do esmalte dentário, epidemiologia, genética, odontologia, prevalência, retrospectivo
References
1. Wright J. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006 Dec 1; 140(23): 2547-2555.
2. Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011; 194(2-4): 279-83. https://doi.org/10.1159/000324339
3. Gadhia K, McDonald S, Arkutu N, Malik K. Amelogenesis imperfecta: an introduction. Br Dent J. 2012 Apr 27; 212(8): 377-379. https://doi.org/10.1038/sj.bdj.2012.314.
4. Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res. 2003; 44(Suppl 1): 72-78.
5. Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med. 2003; 14(6): 387-398. https://doi.org/10.1177/154411130301400602
6. Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet. 2001 Aug 1; 10(16): 1673-1677. https://doi.org/10.1093/hmg/10.16.1673
7. Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005 Mar; 42(3): 271-5. https://doi.org/10.1136/jmg.2004.024505
8. Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004 Jul; 41(7): 545-549. https://doi.org/10.1136/jmg.2003.017657
9. Wang SK, Zhang H, Hu CY, Liu JF, Chadha S, Kim JW, Simmer JP, Hu JCC. FAM83H and autosomal dominant hypocalcified amelogenesis imperfecta. J Dent Res. 2021 Mar; 100(3): 293-301. https://doi.org/10.1177/0022034520962731.
10. Collins MA, Mauriello SM, Tyndall DA, Wright JT. Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999 Sep; 88(3): 358-364. https://doi.org/10.1016/s1079-2104(99)70043
11. Ravassipour DB, Powell CM, Phillips CL, Hart PS, Hart TC, Boyd C, Wright JT. Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta. Arch Oral Biol. 2005 Jul; 50(7): 611-623. https://doi.org/10.1016/j.archoralbio.2004.12.003.
12. Seow WK. Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. Clin Genet. 1993 May; 43(5): 240-246. https://doi.org/10.1111/j.1399-0004.1993.tb03810.x
13. Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC. WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis. J Dent Res. 2019 May; 98(5): 541-548. https://doi.org/10.1177/0022034518824571
14. Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988 Nov; 17(9-10): 547-553. https://doi.org/10.1111/j.1600-0714.1988.tb01332.x
15. Sabandal MM, Schäfer E. Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Odontology. 2016 Sep; 104(3): 245-256. https://doi.org/10.1007/s10266-016-0266-1. Epub 2016 Aug 22.
16. Bäckman B. Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county. Scand J Dent Res. 1988 Dec; 96(6): 505-516. https://doi.org/10.1111/j.1600-0722.1988.tb01590.x.
17. Chosack A, Eidelman E, Wisotski I, Cohen T. Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol. 1979 Feb; 47(2): 148-156. https://doi.org/10.1016/0030-4220(79)90170-1.
18. Shokri A, Poorolajal J, Khajeh S, Faramarzi F, Kahnamoui HM. Prevalence of dental anomalies among 7- to 35-year-old people in Hamadan, Iran in 2012-2013 as observed using panoramic radiographs. Imaging Sci Dent. 2014 Mar; 44(1): 7-13. https://doi.org/10.5624/isd.2014.44.1.7.
19. Gutierrez SJ, Chaves M, Torres DM, Briceño I. Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. Arch Oral Biol. 2007 May; 52(5): 503-506. https://doi.org/10.1016/j.archoralbio.2006.09.014
20. Calero J, Soto L. Amelogénesis imperfecta. Informe de tres casos en una familia en Cali, Colombia. Colomb Med. 2005 dec 1; 36(3): 47-50.
21. Simancas-Escorcia V, Berdal A, Diaz-Caballero A. Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión. Duazary 2019; 16(1): 129-143.
22. Gutiérrez S, Torres D, Briceño I, Gómez AM, Baquero E. Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta. Genet Mol Biol. 2012 Jul; 35(3): 557-566. https://doi.org/10.1590/S1415-47572012000400003.
23. Gutiérrez SJ. Características clínicas de la caries en individuos con diferentes fenotipos de amelogénesis imperfecta. Univ Odontol. 2013 ene-jun; 32(68): 51-61
24. Duque Borrero AM, Rodríguez Manjarrez C, Soto Llanos OL, Triana Escobar FE. Prevalencia de anomalías dentales en pacientes de 4 a 14 años de edad, atendidos en las clínicas de odontopediatría de la Universidad del Valle en el período de enero de 2013 a junio de 2016. Gastrohnup. 2016 ene-abr 18; (1): 4-11.
25. Arias Acero NE, Fonseca Almánzar AM , Mora Oróstegui ML, Moreno Acuña DL, Pico Prada AR. Prevalencia de los defectos de desarrollo del esmalte en estudiantes de 7 a 9 años de dos instituciones educativas de Girón Santander 2014. Bucaramanga, Colombia: Repositorio Universidad Santo Tomas; 2015. https://repository.usta.edu.co/handle/11634/18755
26. Mafla AC, Córdoba DL, Rojas MN, Vallejos MA, Erazo MF, Rodríguez J. Prevalencia de defectos del esmalte dental en niños y adolescentes colombianos. Rev Fac Odontol Univ Antioq. 2014; 26(1): 106-125.
27. Rozo Gómez ER, Sánchez Castillo DZ, Silva Quevedo JD, Wong Arenas L. Prevalencia de hipoplasia e hipomineralización en niños de 7-13 años que asisten a la Clínica Odontopediátrica de la Universidad Cooperativa de Colombia. Bogotá, Colombia: Repositorio Universidad Cooperativa de Colombia; 2015. https://repository.ucc.edu.co/bitstream/20.500.12494/6489/1/2015-RozoySanchez-Prevalencia-Hipoplasia-Hipomineralizacion.pdf
28. Tovar S, Ziga E, Franco A, Jácome S, Ruiz III J. Estudio Nacional en Salud Bucal (ENSAB IV). Bogotá, Colombia: Ministerio de Salud; 2014.
29. Gupta SK, Saxena P, Jain S, Jain D. Prevalence and distribution of selected developmental dental anomalies in an Indian population. J Oral Sci. 2011 Jun; 53(2): 231-238. https://doi.org/10.2334/josnusd.53.231
30. Harini N, Don KR. Prevalence pattern of developmental anomalies of oral cavity in South Indian population-A hospital-based study. Drug Invention Today. 2019; 11(2).
2. Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011; 194(2-4): 279-83. https://doi.org/10.1159/000324339
3. Gadhia K, McDonald S, Arkutu N, Malik K. Amelogenesis imperfecta: an introduction. Br Dent J. 2012 Apr 27; 212(8): 377-379. https://doi.org/10.1038/sj.bdj.2012.314.
4. Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res. 2003; 44(Suppl 1): 72-78.
5. Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med. 2003; 14(6): 387-398. https://doi.org/10.1177/154411130301400602
6. Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet. 2001 Aug 1; 10(16): 1673-1677. https://doi.org/10.1093/hmg/10.16.1673
7. Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005 Mar; 42(3): 271-5. https://doi.org/10.1136/jmg.2004.024505
8. Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004 Jul; 41(7): 545-549. https://doi.org/10.1136/jmg.2003.017657
9. Wang SK, Zhang H, Hu CY, Liu JF, Chadha S, Kim JW, Simmer JP, Hu JCC. FAM83H and autosomal dominant hypocalcified amelogenesis imperfecta. J Dent Res. 2021 Mar; 100(3): 293-301. https://doi.org/10.1177/0022034520962731.
10. Collins MA, Mauriello SM, Tyndall DA, Wright JT. Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999 Sep; 88(3): 358-364. https://doi.org/10.1016/s1079-2104(99)70043
11. Ravassipour DB, Powell CM, Phillips CL, Hart PS, Hart TC, Boyd C, Wright JT. Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta. Arch Oral Biol. 2005 Jul; 50(7): 611-623. https://doi.org/10.1016/j.archoralbio.2004.12.003.
12. Seow WK. Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. Clin Genet. 1993 May; 43(5): 240-246. https://doi.org/10.1111/j.1399-0004.1993.tb03810.x
13. Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC. WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis. J Dent Res. 2019 May; 98(5): 541-548. https://doi.org/10.1177/0022034518824571
14. Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988 Nov; 17(9-10): 547-553. https://doi.org/10.1111/j.1600-0714.1988.tb01332.x
15. Sabandal MM, Schäfer E. Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Odontology. 2016 Sep; 104(3): 245-256. https://doi.org/10.1007/s10266-016-0266-1. Epub 2016 Aug 22.
16. Bäckman B. Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county. Scand J Dent Res. 1988 Dec; 96(6): 505-516. https://doi.org/10.1111/j.1600-0722.1988.tb01590.x.
17. Chosack A, Eidelman E, Wisotski I, Cohen T. Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol. 1979 Feb; 47(2): 148-156. https://doi.org/10.1016/0030-4220(79)90170-1.
18. Shokri A, Poorolajal J, Khajeh S, Faramarzi F, Kahnamoui HM. Prevalence of dental anomalies among 7- to 35-year-old people in Hamadan, Iran in 2012-2013 as observed using panoramic radiographs. Imaging Sci Dent. 2014 Mar; 44(1): 7-13. https://doi.org/10.5624/isd.2014.44.1.7.
19. Gutierrez SJ, Chaves M, Torres DM, Briceño I. Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. Arch Oral Biol. 2007 May; 52(5): 503-506. https://doi.org/10.1016/j.archoralbio.2006.09.014
20. Calero J, Soto L. Amelogénesis imperfecta. Informe de tres casos en una familia en Cali, Colombia. Colomb Med. 2005 dec 1; 36(3): 47-50.
21. Simancas-Escorcia V, Berdal A, Diaz-Caballero A. Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión. Duazary 2019; 16(1): 129-143.
22. Gutiérrez S, Torres D, Briceño I, Gómez AM, Baquero E. Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta. Genet Mol Biol. 2012 Jul; 35(3): 557-566. https://doi.org/10.1590/S1415-47572012000400003.
23. Gutiérrez SJ. Características clínicas de la caries en individuos con diferentes fenotipos de amelogénesis imperfecta. Univ Odontol. 2013 ene-jun; 32(68): 51-61
24. Duque Borrero AM, Rodríguez Manjarrez C, Soto Llanos OL, Triana Escobar FE. Prevalencia de anomalías dentales en pacientes de 4 a 14 años de edad, atendidos en las clínicas de odontopediatría de la Universidad del Valle en el período de enero de 2013 a junio de 2016. Gastrohnup. 2016 ene-abr 18; (1): 4-11.
25. Arias Acero NE, Fonseca Almánzar AM , Mora Oróstegui ML, Moreno Acuña DL, Pico Prada AR. Prevalencia de los defectos de desarrollo del esmalte en estudiantes de 7 a 9 años de dos instituciones educativas de Girón Santander 2014. Bucaramanga, Colombia: Repositorio Universidad Santo Tomas; 2015. https://repository.usta.edu.co/handle/11634/18755
26. Mafla AC, Córdoba DL, Rojas MN, Vallejos MA, Erazo MF, Rodríguez J. Prevalencia de defectos del esmalte dental en niños y adolescentes colombianos. Rev Fac Odontol Univ Antioq. 2014; 26(1): 106-125.
27. Rozo Gómez ER, Sánchez Castillo DZ, Silva Quevedo JD, Wong Arenas L. Prevalencia de hipoplasia e hipomineralización en niños de 7-13 años que asisten a la Clínica Odontopediátrica de la Universidad Cooperativa de Colombia. Bogotá, Colombia: Repositorio Universidad Cooperativa de Colombia; 2015. https://repository.ucc.edu.co/bitstream/20.500.12494/6489/1/2015-RozoySanchez-Prevalencia-Hipoplasia-Hipomineralizacion.pdf
28. Tovar S, Ziga E, Franco A, Jácome S, Ruiz III J. Estudio Nacional en Salud Bucal (ENSAB IV). Bogotá, Colombia: Ministerio de Salud; 2014.
29. Gupta SK, Saxena P, Jain S, Jain D. Prevalence and distribution of selected developmental dental anomalies in an Indian population. J Oral Sci. 2011 Jun; 53(2): 231-238. https://doi.org/10.2334/josnusd.53.231
30. Harini N, Don KR. Prevalence pattern of developmental anomalies of oral cavity in South Indian population-A hospital-based study. Drug Invention Today. 2019; 11(2).
Como Citar
Naranjo Jiménez, L. P., Muñoz Briceño, M. A., Suárez Castillo, Ángela, Lamby Tovar, C. P., & Gutierrez Prieto, S. J. (2021). Prevalência de amelogênese imperfeita em uma população colombiana: estudo retrospectivo. Uiversitas Odontologica, 40. https://doi.org/10.11144/Javeriana.uo40.aipc
Edição
Seção
Salud Pública y Epidemiología Oral
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.