Nephrocalcinosis in Amelogenesis Imperfecta Caused by the <b><i>FAM20A</i></b> Mutation

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.

Enamel renal syndrome: A systematic review

“…The results found with the research are summarized in Table 1 . Of a total of 69 articles found after research, only 30 (43.47%) were in agreement with the methodology,[ 1 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 ] of these 27 (39,13%) were case reports,[ 1 7 8 10 11 12 13 14 15 16 17 18 20 21 23 24 25 26 27 28 29 30 31 32 33 34 ] 1 (1.44%) was case series[ 22 ] and 2 were review of scientific literature. [ 9 19 ] The most recent publication date was in May 2018[ 34 ] and the older was in February 1972.…”

“…The youngest age reported was in the first year of life[ 25 ] and the highest age was at 64 years old. [ 21 ] In ten (14.4%) patients,[ 7 8 11 14 17 27 33 ] there was a difference between the ages of diagnosis of AI and nephrocalcinosis. In 6 (8.64%) patients,[ 7 8 14 33 ] AI was first identified at 1,[ 8 ] 6,[ 33 ] 8[ 7 14 ] and 12 years[ 7 33 ] and in 4 patients[ 11 17 27 ] nephrocalcinosis was first diagnosed at 8,[ 27 ] 11,[ 11 ] and 15 years.…”

“…[ 21 ] In ten (14.4%) patients,[ 7 8 11 14 17 27 33 ] there was a difference between the ages of diagnosis of AI and nephrocalcinosis. In 6 (8.64%) patients,[ 7 8 14 33 ] AI was first identified at 1,[ 8 ] 6,[ 33 ] 8[ 7 14 ] and 12 years[ 7 33 ] and in 4 patients[ 11 17 27 ] nephrocalcinosis was first diagnosed at 8,[ 27 ] 11,[ 11 ] and 15 years. [ 11 17 ] When it comes to gender, there were 33 (47.82%) women[ 1 6 7 9 10 11 12 13 16 17 19 21 22 23 25 27 29 31 ] and 36 (52.17%) men.…”

“…[ 11 17 ] When it comes to gender, there were 33 (47.82%) women[ 1 6 7 9 10 11 12 13 16 17 19 21 22 23 25 27 29 31 ] and 36 (52.17%) men. [ 6 7 9 10 11 12 14 15 17 21 22 24 25 26 28 29 30 31 32 33 34 ].…”

Discovery of Selenocysteine as a Potential Nanomedicine Promotes Cartilage Regeneration With Enhanced Immune Response by Text Mining and Biomedical Databases

“…Solute carrier family 3 member 1 (SLC3A1) translates a type II membrane glycoprotein that encodes neutral amino acids associated with cystinuria (Ma et al, 2018). FAM20A golgi is associated with the secretory pathway pseudokinase (FAM20A), which encodes a protein that might function in haematopoiesis and is associated with amelogenesis imperfecta and gingival hyperplasia syndrome (Beres et al, 2018;Koruyucu et al, 2018). Anoctamin 8 (ANO8) is associated with a human disorder that is often overexpressed in diverse cancers (Katoh and Katoh, 2005;Ousingsawat et al, 2011).…”