Abstract:
BACKGROUND/AIMS:Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. METHODS:Complete oral and radiological examinations were performed for all participating family members. Renal examinations were performed using ultrasound. RESULTS:The teeth were evaluated for severe loss, and multiple eruption failures were evident from the clinical and radiological examinations. Unexpected extensive and fast crown resorption was found by radiological examination. Renal ultrasound revealed bilateral nephrocalcinosis in both affected individuals. Recessive FAM20A mutations can cause nephrocalcinosis in addition to the oral phenotype. CONCLUSION:AI patients with similar clinical phenotypes and FAM20A mutations should be examined for nephropathy even if they lack pertinent symptoms. Nephrology referral is warranted for patients who have clinical phenotypes related to AI-gingival fibromatosis even if they are not symptomatic.
journal_name
Nephronjournal_title
Nephronauthors
Koruyucu M,Seymen F,Gencay G,Gencay K,Tuna EB,Shin TJ,Hyun HK,Kim YJ,Kim JWdoi
10.1159/000486607subject
Has Abstractpub_date
2018-01-01 00:00:00pages
189-196issue
2eissn
1660-8151issn
2235-3186pii
000486607journal_volume
139pub_type
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