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

I A Roomaney; S Kabbashi; K Beshtawi; S Moosa; M Y Chothia; M Chetty

doi:10.3389/froh.2023.1228760

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

Front Oral Health. 2023 Aug 22:4:1228760. doi: 10.3389/froh.2023.1228760. eCollection 2023.

Authors

I A Roomaney¹, S Kabbashi¹, K Beshtawi^{1

2}, S Moosa^{3

4}, M Y Chothia⁵, M Chetty¹

Affiliations

¹ Department of Craniofacial Biology, Pathology and Radiology, Faculty of Dentistry, University of Western Cape, Cape Town, South Africa.
² Department of Dental Sciences, Faculty of Graduate Study, Arab American University, Jenin, Palestine.
³ Division of Molecular Biology and Human Genetics, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa.
⁴ Medical Genetics, Tygerberg Hospital, Cape Town, South Africa.
⁵ Division of Nephrology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa.

Abstract

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.

Keywords: craniofacial manifestations; enamel renal syndrome; fam20A; nephrocalcinosis; rare disease Africa.

Publication types

Case Reports

Grants and funding

The research reported in this article was supported by the South African Medical Research Council (SAMRC) through its Division of Research Capacity Development under the Research Capacity Development Initiative from funding received from the South African National Treasury. The content and findings reported / illustrated are the sole deduction, view and responsibility of the researcher and do not reflect the official position and sentiments of the SAMRC. IR is supported by the SAMRC Clinician Researcher Development Programme. The work reported herein was also made possible through additional funding (SM) by the South African Medical Research Council through its Division of Research Capacity Development under the Early Investigators Programme from funding received from the South African National Treasury. The content hereof is the sole responsibility of the authors and does not necessarily represent the official views of the SAMRC. We gratefully acknowledge the Centre for High Performance Computing (CHPC, http://www.chpc.ac.za) and ILIFU (https://www.ilifu.ac.za) for computational resources.