Amelogénesis imperfecta: ¿un indicio de alteraciones renales?

Victor Hugo Simancas Escorcia; María del Pilar  Luján

doi:10.16925/2357-4607.2021.02.05

Amelogenesis imperfecta : a sign of kidney disorders?

Review Article

https://doi.org/10.16925/2357-4607.2021.02.05

Victor Hugo Simancas Escorcia Ver Biografía

Corporación Universitaria Rafael Núñez

María del Pilar Luján Ver Biografía

Corporación Universitaria Rafael Núñez

Introduction: Amelogenesis Imperfecta (AI) constitutes a heterogeneous group of alterations, that impact the structure of tooth enamel of genetic origin. This pathology product of physiological changes during odontogenesis modifies the structure and clinical appearance of the enamel, giving it a thin appearance and less resistance. It has been described that AI may appear in isolation or in a syndromic manner.

Purpose: Describe the syndromes that impact the renal system and present with amelogenesis imperfecta according to current scientific evidence.

Method: An electronic literature search was carried out until September 2019, with the terms Amelogenesis imperfecta, renal AND/OR Amelogenesis Imperfecta and AND/OR Syndrome Amelogenesis Imperfecta.

Results: 1660 articles were pre-selected, of which 52 were taken into account for this review. It was identified that the syndrome Amelogenesis imperfecta-Nephrocalcinosis, Raine syndrome, Bartter syndrome, Distal renal tubular acidosis and familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis are renal conditions that concur concomitantly with a dental phenotype.

Conclusion: This review has allowed us to demonstrate that alterations in dental enamel type AI constitute a warning sign for pathological entities that impact renal functioning. It is recommended that dental professionals, an established diagnosis of amelogenesis imperfecta, consider making the referral of these patients to a nephrology service.

Keywords: amelogenesis imperfecta, dental enamel, dental enamel proteins, genes, syndrome

Zheng L, Ehardt L, McAlpin B, About I, Kim D, Papagerakis S, et al. The tick tock of odontoge-nesis. Experimental Cell Research. 2014; 325(2):83–9. doi: 10.1016/j.yexcr.2014.02.007

Bei M. Molecular genetics of ameloblast cell lineage. J Exp Zool B Mol Dev Evol. 2009; 312B(5):437–44. doi:10.1002/jez.b.21261

Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, et al. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involve-ment. J Med Genet. 2016; 53(2):98–110. doi:10.1136/jmedgenet-2015-103302

Coffield KD, Phillips C, Brady M, Roberts MW, Strauss RP, Wright JT. The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta. J Am Dent Assoc. 2005; 136(5):620–30. doi: 10.14219/jada.archive.2005.0233

Hutton B, Catalá-López F, Moher D. La extensión de la declaración PRISMA para revisio-nes sistemáticas que incorporan metaanálisis en red: PRISMA-NMA. Med Clin (Barc). 2016; 147(6):262–6. doi: http://dx.doi.org /10.1016/j.medcli.2016.02.025 0025-7753

Moher D, Liberati A, Tetzlaff J, Altman DG. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. BMJ. 2009;339:b2535. doi: https://doi.org/10.1136/bmj.b2535

Crawford PJM, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007; 2:17. doi: 10.1186/1750-1172-2-17

Chamarthi V, Varma BR, Jayanthi M. Amelogenesis imperfecta: a clinician’s challenge. J Indian Soc Pedod Prev Dent. 2012; 30(1):70–3. doi: 10.4103/0970-4388.95587

Oliveira AFB, Chaves AMB, Rosenblatt A. The influence of enamel defects on the development of early childhood caries in a population with low socioeconomic status: a longitudinal study. Caries Res. 2006; 40(4):296–302. doi: 10.1159/000093188

Uribe S. Early childhood caries--risk factors. Evid Based Dent. 2009;10(2):37–8. doi: 10.1038/sj.ebd.6400642

Prasad MK, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. J Dent Res. 2016; 95(13):1457–63. doi: 10.1177/0022034516663200

Simancas-Escorcia V, Guarapo AEN, Camargo MGA de. Genes involucrados en la amelogénesis imperfecta. Parte I. Rev Fac Odontol Univ Antioq. 2018; 30(1). doi: http:// dx.doi.org /10.17533/udea.rfo.v30n1a10

Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, et al. FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics. 2005; 6:11. doi: 10.1186/1471-2164-6-11

Cui J, Zhu Q, Zhang H, Cianfrocco MA, Leschziner AE, Dixon JE, et al. Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding. Elife; 2017 22;6. doi: 10.7554/eLife.23990

Ohyama Y, Lin J-H, Govitvattana N, Lin I-P, Venkitapathi S, Alamoudi A, et al. FAM20A binds to and regulates FAM20C localization. Sci Rep. 2016 13;6:27784. doi: 10.1038/srep27784

Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, et al. Secreted kina-se phosphorylates extracellular proteins that regulate biomineralization. Science; 2012; 336(6085):1150–3. doi: 10.1126/science.1217817

Lignon G, Beres F, Quentric M, Rouzière S, Weil R, De La Dure-Molla M, et al. FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? Front Physiol. 2017; 8:267. doi: 10.3389/fphys.2017.00267

Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revi-sited: problems in classification. J Oral Pathol. 1988; 17(9–10):547–53. doi: 10.1111/j.1600-0714.1988.tb01332.x

Simancas-Escorcia V, Berdal A, Díaz-Caballero A. Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión. Duazary. 2019; 16(1):129 -143. doi: 1021676/2389783X2531

De la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo A-C, Mighell AJ, Vikkula M, et al. Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. Orphanet J Rare Dis. 2014;9:84. doi: 10.1186/1750-1172-9-84.

Wrong O. Nephrocalcinosis. 4 Davison AM. Oxford UOU. Oxford University Press; 2005.

Al-Bderat JT, Mardinie RI, Salaita GM, Al-Bderat AT, Farrah MK. Nephrocalcinosis among chil-dren at king hussein medical center: Causes and outcome. Saudi J Kidney Dis Transpl. 2017; 28(5):1064–8. doi: 10.4103/1319-2442.215138

Li Q, Chou DW, Price TP, Sundberg JP, Uitto J. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6 tm1Jfk and Enpp1 asj mutant mice. Laboratory Investigation. 2014; 94(6):623–32. doi: 10.1038/labinvest.2014.52

Ogbureke KUE, Fisher LW. Renal expression of SIBLING proteins and their part-ner matrix metalloproteinases (MMPs). Kidney International. 2005; 68(1):155–66. doi: 10.1111/j.1523-1755.2005.00389.x

Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, et al. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet. 2007; 81(5):906–12. doi: 10.1086/522240

Oya K, Ishida K, Nishida T, Sato S, Kishino M, Hirose K, et al. Immunohistochemical analy-sis of dentin matrix protein 1 (Dmp1) phosphorylation by Fam20C in bone: implications for the induction of biomineralization. Histochem Cell Biol. 2017;147(3):341–51. doi: 10.1007/s00418-016-1490-z

Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, et al. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Med Genet. 2015;16:8. doi: 10.1186/s12881-015-0154-5

Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, et al. A Single Kinase Generates the Majority of the Secreted Phosphoproteome. Cell. 2015; 161(7):1619–32. doi: 10.1016/j.cell.2015.05.028

Hao J, Narayanan K, Muni T, Ramachandran A, George A. Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. J Biol Chem. 2007; 282(21):15357–65. doi: 10.1074/jbc.M701547200

Chan H-C, Mai L, Oikonomopoulou A, Chan HL, Richardson AS, Wang S-K, et al. Altered ena-melin phosphorylation site causes amelogenesis imperfecta. J Dent Res. 2010; 89(7):695–9. doi: 10.1177/0022034510365662

Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O’Sullivan J, Bhaskar S, et al. Non lethal Raine syndrome and differential diagnosis. European Journal of Medical Genetics. 2016; 59(11):577–83. doi: 10.1016/j.ejmg.2016.09.018

Takeyari S, Yamamoto T, Kinoshita Y, Fukumoto S, Glorieux FH, Michigami T, et al. Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous muta-tion of the FAM20C gene in an elderly man with a mild variant of Raine syndrome. Bone. 2014; 67:56–62. doi: 10.1016/j.bone.2014.06.026

Devuyst O. Salt wasting and blood pressure. Nature Genetics. 2008; 40(5):495–6. doi: 10.1038/ng0508-495

Fahlke C, Fischer M. Physiology and pathophysiology of ClC-K/barttin channels. Front Physiol.2010; 1:155. doi: 10.3389/fphys.2010.00155

Hebert SC. Bartter syndrome. Curr Opin Nephrol Hypertens. 2003; 12(5):527–32. doi: 10.1097/00041552-200309000-00008

Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher M-A, et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant. 2009; 24(5):1455–64. doi: 10.1093/ndt/gfn689

Briet M, Vargas-Poussou R, Lourdel S, Houillier P, Blanchard A. How Bartter’s and Gitelman’s syndromes, and Dent’s disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5. Nephron Physiol. 2006; 103(1): 7-13. doi: 10.1159/000090218

Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotrans-porter NKCC2. Nat Genet. 1996; 13(2):183–8. doi: 10.1038/ng0696-183

Martelli-Júnior H, Ferreira SP, Pereira PCB, Coletta RD, de Aquino SN, Miranda DM, et al. Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter’s Syndrome. Nephron Extra. 2012; 2(1):319–25. doi: 10.1159/000345801

Kumar ACV, Alekya V, Krishna MSVV, Alekya K, Aruna M, Reddy MHK, et al. Association of Amelogenesis Imperfecta and Bartter’s Syndrome. Indian J Nephrol. 2017; 27(5):399–401. doi: 10.4103/ijn.IJN_203_16

Rodríguez Soriano J. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol. 2002; 13(8):2160–70. doi: 10.1097/01.asn.0000023430.92674.e5

Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012; 27(10):3691–704. doi: 10.1093/ndt/gfs442

Ravi P, Ekambaranath TS, Arasi SE, Fernando E. Distal renal tubular acidosis and ame-logenesis imperfecta: A rare association. Indian J Nephrol. 2013; 23(6):452–5. doi: 10. 4103/0971-4065.120345

Misgar RA, Hassan Z, Wani AI, Bashir MI. Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? Indian J Nephrol. 2017; 27(3):225–7. doi: 10.4103/0971-4065.202826

Elizabeth J, Lakshmi Priya E, Umadevi KMR, Ranganathan K. Amelogenesis imperfec-ta with renal disease--a report of two cases. J Oral Pathol Med. 2007; 36(10):625–8. doi: 10.1111/j.1600-0714.2007.00615.x

Vall-Palomar M, Arévalo J, Ariceta G, Meseguer A. Establishment of urinary exosome-like vesi-cles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extrac-tion methods. J Transl Med. 2018; 16(1):278. doi: 10.1186/s12967-018-1651-z

Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T, et al. CLDN16 genotype predicts re-nal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol. 2008; 19(1):171–81. doi: 10.1681/ASN.2007060709

Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, et al. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcino-sis in Turkish siblings. Turk J Pediatr. 2018; 60(1):76–80. doi: 10.24953/turkjped.2018.01.011

Cetrullo N, Guadagni MG, Piana G. Two cases of familial hypomagnesemia with hypercalciu-ria and nephrocalcinosis: dental findings. Eur J Paediatr Dent. 2006; 7(3):146–50. doi: 10.1038/ki.1995.199

Bardet C, Courson F, Wu Y, Khaddam M, Salmon B, Ribes S, et al. Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation. J Bone Miner Res. 2016; 31(3):498–513. doi: 10.1002/jbmr.2726

Yamaguti PM, Neves F de AR, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, et al. Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephro-calcinosis caused by CLDN19 gene mutations. J Med Genet. 2017; 54(1):26–37. doi: 10.1136/jmedgenet-2016-103956

Hunter L, Addy LA, Knox J, Drage N. Is Amelogenesis Imperfecta an indication for renal exa-mination? Int J Paediatr Dent. 2007; 17: 62-5. doi: 10.1111/j.1365-263X.2006.00782.x

Josephsen K, Takano Y, Frische S, Praetorius J, Nielsen S, Aoba T, et al. Ion transporters in secretory and cyclically modulating ameloblasts: a new hypothesis for cellular control of preeruptive enamel maturation. Am J Physiol, Cell Physiol. 2010; 299(6):C1299-1307. doi: 10.1152/ajpcell.00218.2010

Amelogenesis imperfecta: a sign of kidney disorders?. (2021). Revista Nacional De Odontología, 17(2), 1-20. https://doi.org/10.16925/2357-4607.2021.02.05

Download Citation

This work is licensed under a Creative Commons Attribution 4.0 International License.

Every single author of the articles has to declare that is an original unpublished work exclusively created by them, that it has not been submitted for simultaneous evaluation by another publication and that there is no impediment of any kind for concession of the rights provided for in the contract.

In this sense, the authors committed to await the result of the evaluation by the journal Revista Nacional de Odontologia before considering its submission to another medium; in case the response by that publication is positive, additionally, the authors committed to respond for any action involving claims, plagiarism or any other kind of claim that could be made by third parties.

At the same time, the authors have to declare that they are completely in agreement with the conditions presented in their work and that they cede all patrimonial rights. These rights involve reproduction, public communication, distribution, dissemination, transformation, making it available and all forms of exploitation of the work using any medium or procedure, during the term of the legal protection of the work and in every country in the world, to the Universidad Cooperativa de Colombia Press.

Issue

Vol. 17 No. 2 (2021)

Published

2021-07-12

Downloads

PDF (Spanish)

Metrics

Metrics Loading ...

https://plu.mx/plum/a/?doi=10.16925/2357-4607.2021.02.05