Amelogenesis imperfecta with renal disease – a report of two cases

Joshua, Elizabeth; Priya, E.; Umadevi, K. M. R.; Ranganathan, K

doi:10.1111/j.1600-0714.2007.00615.x

Cited by 41 publications

(50 citation statements)

References 12 publications

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“…The association of AI and nephrocalcinosis is rare, and we have found only 10 reports in the English-language literature [5,6,7,8,9,10,11,12,13]. This association has been described in nonconsanguineous and consanguineous families, and with no family history, suggesting that the syndrome is inherited as an autosomal recessive trait [4,5,6,8,11,12,13].…”

Section: Discussionmentioning

confidence: 97%

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

et al. 2011

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Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of consanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a nephrologist, if appropriate. Children with nephrocalcinosis should also be considered for a dental check.

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Section: Discussionmentioning

confidence: 97%

“…The rare syndrome of AI with nephrocalcinosis, also called the enamel-renal syndrome (OMIM 204690), was first reported by MacGibbon in 1972 [4]; since this report, only another 9 cases have been described in the English-language literature [5,6,7,8,9,10,11,12,13]. …”

Section: Introductionmentioning

confidence: 99%

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

et al. 2011

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“…It also suggested the possibility of involvement of two separate but closely linked genes [4]. Another hypothesis suggests that many of the dental proteins that were believed to be tissue specific may be expressed in more than one dental tissue and also in non-dental tissues, and these proteins may have a role in calcium and phosphate metabolism [3,[16][17][18][19][20].…”

Section: Discussionmentioning

confidence: 99%

“…It may affect all or only some teeth in the primary and /or permanent dentition [2]. Inheritance is mainly autosomal dominant, but autosomal recessive, X-linked and sporadic cases can also occur spontaneously in one or more members of the same family [3]. AI also occurs as an integral and often diagnostic feature of a small number of syndromes [4].…”

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confidence: 99%

Amelogenesis imperfecta: signs that should alert pediatric dentists

Taktak

Mansour

Sioud³

2010

Med Buccale Chir Buccale

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-This article describes a new case of a rare syndrome which combines uncommon conditions, such as hypoplastic amelogenenesis imperfecta (AI), delay of permanent tooth eruption, gingival enlargement, pulpal calcifications and bilateral medullary nephrocalcinosis. The importance of syndrome diagnosis and recognition in this condition is in guiding pediatric dentist, who meets this patient group in early age, to recognize the possibility of renal anomalies in patients AI in order that affected individuals might benefit from early referral to nephrology services and hence improved prognosis.

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“…Another hypothesis suggests that many of the dental proteins that were believed to be tissue specific may be expressed in more than one dental tissue and also in non-dental tissues and the role of these proteins in calcium and phosphate metabolism. Further research concerning these proteins is necessary to determine if they play a role in the calcium and phosphate metabolism and renal function (10,(13)(14)(15). Those far mutations in four genes (AMELX, ENAM, KLK4 and MMP20) have been reported to cause AI (2), but the molecular defects of all forms of AI have not yet been established.…”

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confidence: 99%

The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome

Kırzıoğlu¹,

Kg²,

Mt³

et al. 2009

Med Oral

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Aim: To analyze the prevalence and associated oral findings of nephrocalcinosis in a group of patients affected with amelogenesis imperfecta (AI). The relationship between types of AI and nephrocalcinosis were also evaluated. Design: This study examines patients who were referred to Pediatric Dentistry Department of SDU between the years of 2002-2007 and who, upon clinical and radiological examination, were diagnosed with AI and treated. Patients were offered information about the possibility of nephrocalcinosis syndrome. Patients who agreed to have tests carried out on their renal system were advised to visit the department of nephrology at the clinic. Results: Suspicious radiopacity was observed during renal ultrasonography of a controlled number of patients with hypoplastic type AI. Laboratory results revealed low Ca values (100-300 mg/days) and normal P values (0.4-1.3 g/days). Delayed eruption, gingival hyperplasia, pulp stones and orthodontic problems were also observed in the same patient groups. Conclusion: Although renal findings were observed in a few patients, pediatric dentists are the doctors who are the first to have early contact with this patient group. Because of the potential risk of nephrocalcinosis, early diagnosis may offer good prognosis.

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Amelogenesis imperfecta with renal disease – a report of two cases

Cited by 41 publications

References 12 publications

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

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

Amelogenesis imperfecta: signs that should alert pediatric dentists

The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome

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