Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents

Dellow, Emma L.; Harley, Kathryn; Unwin, Robert J.; Wrong, Oliver; Winter, G B; Parkins, Brian J.

doi:10.1093/ndt/13.12.3193

Cited by 34 publications

(50 citation statements)

References 2 publications

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“…In some of the previous case reports [4,[8][9][10][11][12][13], it has been suggested that children with apparently autosomal recessive AI should, at least, have a renal ultrasound examination to exclude the combination of AI and nephrocalcinosis. The AI and nephrocalcinosis syndrome has been reported in consanguineous and non consanguineous families [12].…”

Section: Discussionmentioning

confidence: 99%

“…The sister also developed multiple urinary infections, hypertension and renal failure [8]. This syndrome of AI and nephrocalcinosis is characterized by delayed tooth eruption, the presence of thin or absent enamel, presence of intrapulpal calcifications and bilateral medullary nephrocalcinosis with normal calcemia [8][9][10][11][12][13]. The delay of eruption could be explained by the pathology [14,15] or the presence of some calcifications in the dental follicles [11].…”

Section: Discussionmentioning

confidence: 99%

“…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%

See 2 more Smart Citations

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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Amelogenesis imperfecta: signs that should alert pediatric dentists

Taktak

Mansour

Sioud³

2010

Med Buccale Chir Buccale

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“…The syndrome of AI and nephrocalcinosis has been previously reported in only 14 cases (including eight siblings), (1,(5)(6)(7)(8)(9)(10)(11)(12). Although AI and nephrocalcinosis may therefore be an extremely rare syndrome, untreated nephrocalcinosis is known to be associated with significant morbidity.…”

Section: Discussionmentioning

confidence: 99%

“…Its importance is known to be associated with significant morbidity with unrecognized and untreated nephrocalcinosis. Due to the importance of a renal involvement, kidney ultrasound should be performed in all AI patients in order to exclude nephrocalcinosis and to determine if this alteration is exclusive of this rare syndrome or can be found in other AI forms (10).…”

Section: Discussionmentioning

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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Enamel‐renal‐gingival syndrome and FAM20A mutations

Kantaputra

Kaewgahya

Khemaleelakul

et al. 2013

American J of Med Genetics Pt A

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The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, unerupted teeth, aggressive periodontitis, and nephrocalcinosis/nephrolithiasis. Additional findings consisted of a supernumerary premolar, localized aggressive periodontitis, thin alveolar bone, vitamin D deficiency-associated hyperparathyroidism, and heterotopic calcification in other tissues, including lungs, dental pulp, gingiva, dental follicles, and periodontal tissues, and early cessation of limited menstruation. Greater promotory activity of urine on calcium oxalate crystal growth compared to controls may help to explain the pathogenesis, and suggest that FAM20A mutations can contribute to nephrocalcinosis/nephrolithiasis. Our findings expand the phenotypic spectrum of FAM20A mutations. Since both of our patients and a large number of previously reported cases had all the important features of both syndromes, including AI, renal anomalies, and gingival fibromatosis, we are convinced that these two disorders actually are the same entity. The name of enamel-renal-gingival syndrome is suggested.

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Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents

Cited by 34 publications

References 2 publications

Amelogenesis imperfecta: signs that should alert pediatric dentists

Amelogenesis imperfecta: signs that should alert pediatric dentists

The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome

Enamel‐renal‐gingival syndrome and FAM20A mutations

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