Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature

Martelli‐Júnior, Hercílio; Neto, Pedro Eleutério dos Santos; Aquino, Sibele Nascimento de; Santos, Carolina Carvalho de Oliveira; Borges, Sabina Pena; Oliveira, Eduardo A.; Lopes, Márcio Ajudarte; Coletta, Ricardo D.

doi:10.1159/000322828

Cited by 39 publications

(40 citation statements)

References 35 publications

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“…This observation is in agreement with the observation by Martelly-Júnior [28] of a patient with hypoplastic enamel, renal malformation associated with delayed tooth eruption.…”

Section: Pathological Eruption Courses In Humanssupporting

confidence: 93%

Mechanism of Human Tooth Eruption: Review Article Including a New Theory for Future Studies on the Eruption Process

Kjær

2014

Scientifica

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Human eruption is a unique developmental process in the organism. The aetiology or the mechanism behind eruption has never been fully understood and the scientific literature in the field is extremely sparse. Human and animal tissues provide different possibilities for eruption analyses, briefly discussed in the introduction. Human studies, mainly clinical and radiological, have focused on normal eruption and gender differences. Why a tooth begins eruption and what enables it to move eruptively and later to end these eruptive movements is not known. Pathological eruption courses contribute to insight into the aetiology behind eruption. A new theory on the eruption mechanism is presented. Accordingly, the mechanism of eruption depends on the correlation between space in the eruption course, created by the crown follicle, eruption pressure triggered by innervation in the apical root membrane, and the ability of the periodontal ligament to adapt to eruptive movements. Animal studies and studies on normal and pathological eruption in humans can support and explain different aspects in the new theory. The eruption mechanism still needs elucidation and the paper recommends that future research on eruption keeps this new theory in mind. Understanding the aetiology of the eruption process is necessary for treating deviant eruption courses.

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“…This observation is in agreement with the observation by Martelly-Júnior [28] of a patient with hypoplastic enamel, renal malformation associated with delayed tooth eruption.…”

Section: Pathological Eruption Courses In Humanssupporting

confidence: 93%

Mechanism of Human Tooth Eruption: Review Article Including a New Theory for Future Studies on the Eruption Process

Kjær

2014

Scientifica

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“…As a result of the mutation at KCNJ1 gene, the calcification process is probably altered in our patient 1, leading to hypercalciuria and nephrocalcinosis. Since nephrocalcinosis is a common feature of BS [17] and the association between AI and nephrocalcinosis is also already established [9], we might speculate that AI features are related with nephrocalcinosis and altered biomineralization of the enamel. Both our patients diagnosed with AI had nephrocalcinosis and a long period of uncontrolled disorder, probably related to the severity of the disorder and/or length of time without adequate treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Many genes have been associated with isolated AI, such as genes of amelogenin, enamelin, enamelysin, KLK4, WDR72, FAM83H and FAM20 [6,7,8]. AI as part of a syndrome was already identified in cases of amelo-onycho-hypohidrotic syndrome, Kohlschutter syndrome, oculo-dento-osseous dysplasia, and epidermolysis bullosa hereditaria, among others [9,10]. The rare syndrome associating AI and nephrocalcinosis, also called enamel-renal syndrome, was first reported by MacGibbon in 1972 and, since then, another 10 reports in the literature were found [9].…”

Section: Introductionmentioning

confidence: 99%

“…AI as part of a syndrome was already identified in cases of amelo-onycho-hypohidrotic syndrome, Kohlschutter syndrome, oculo-dento-osseous dysplasia, and epidermolysis bullosa hereditaria, among others [9,10]. The rare syndrome associating AI and nephrocalcinosis, also called enamel-renal syndrome, was first reported by MacGibbon in 1972 and, since then, another 10 reports in the literature were found [9]. Nephrocalcinosis is the result of calcium salts precipitation in renal tissue, found in cases with hypercalcemia and/or hypercalciuria such as renal tubular acidosis, BS, medullary sponge kidney, and hyperoxaluria [4].…”

Section: Introductionmentioning

confidence: 99%

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Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter’s Syndrome

et al. 2012

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Background/Aims: Amelogenesis imperfecta (AI) is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is to describe typical features of AI in 2 patients with Bartter’s syndrome (BS) for the first time. Methods: -Eight patients with confirmed BS were systematically screened for dental abnormalities as part of protocol. Those with suggestive clinical features of AI were submitted to panoramic X-ray and decayed teeth were analyzed by scanning electron microscopy. Results: Typical features of AI were detected in 2 girls with BS. These 2 patients showed nephrocalcinosis, and diagnosis and adequate clinical control were delayed. Genetic analysis detected the mutation responsible for BS in 1 of these patients. In this case, BS was due to a homozygous mutation of exon 5 of the KCNJ1 gene resulting in a substitution of valine for alanine at the codon 214 (A214V). Conclusions: The finding of typical features of AI in BS might constitute preliminary evidence that abnormalities of the biomineralization process found in patients with renal tubular disorders might also affect calcium deposition in dental tissues.

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“…Three patients experienced acute or chronic pyelonephritis, 1 had urinary calculus [7,9,14] and 1 developed chronic renal failure [8]. For the remaining patients with nephrocalcinosis, no anomalies or major complications were reported [11-13,17], in line with the clinical history of Fam20a −/− mutant mice, which depicted a partial resolution of ectopic mineralization in muscular arteries and lungs as the mice matured [42]. A regular follow-up of the nephrocalcinosis and evaluation of kidney function throughout childhood and adulthood may enable the initiation of preventive treatment before the occurrence of renal failure.…”

Section: Natural History and Prognosismentioning

confidence: 99%

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Molla

Quentric

Yamaguti

et al. 2014

Orphanet J Rare Dis

110

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Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth.

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Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature

Cited by 39 publications

References 35 publications

Mechanism of Human Tooth Eruption: Review Article Including a New Theory for Future Studies on the Eruption Process

Mechanism of Human Tooth Eruption: Review Article Including a New Theory for Future Studies on the Eruption Process

Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter’s Syndrome

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

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