Case report: Enamel renal syndrome: a case series from sub-Saharan Africa

Frontiers in Oral Health

Oral Health

M. Chetty¹  I. A. Roomaney¹  S. Kabbashi¹  K. Beshtawi²  S. Moosa³  M. Y. Chothia⁴ 

[1] Department of Craniofacial Biology, Pathology and Radiology, Faculty of Dentistry, University of Western Cape, Cape Town, South Africa;Department of Craniofacial Biology, Pathology and Radiology, Faculty of Dentistry, University of Western Cape, Cape Town, South Africa;Department of Dental Sciences, Faculty of Graduate Study, Arab American University, Jenin, Palestine;Division of Molecular Biology and Human Genetics, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa;Medical Genetics, Tygerberg Hospital, Cape Town, South Africa;Division of Nephrology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa;

关键词: enamel renal syndrome;    fam20A;    rare disease Africa;    craniofacial manifestations;    nephrocalcinosis;   

DOI  :  10.3389/froh.2023.1228760

 received in 2023-05-25, accepted in 2023-08-04,  发布年份 2023

来源: Frontiers

【 摘 要 】

Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal calcifications, gingival enlargement and occasionally nephrocalcinosis. In this case series, we report on four unrelated patients with a confirmed molecular diagnosis of ERS (FAM20A pathogenic variants) from Sub-Saharan Africa. The pathognomonic oral profile of ERS was mostly fulfilled in these patients, with the notable addition of an odontoma in one patient. The cases presented a spectrum of phenotypic severity both dentally and systemically. One patient presented with nephrocalcinosis and abnormal kidney function, one had reduced kidney size with normal kidney function, and two had no renal abnormalities. Patients presenting with the oral profile of ERS should receive a prompt referral to a nephrologist and a geneticist. They should receive long-term management from a multidisciplinary medical and dental team.

【 授权许可】

Unknown   
© 2023 Roomaney, Kabbashi, Beshtawi, Moosa, Chothia and Chetty.