RESUMEN
The study identifies a non-consanguineous multigenerational family of the Lua ethnic group in Northern Thailand with three members affected with hypoplastic-hypocalcified amelogenesis imperfecta, cone-rod dystrophy, and harboring a novel homozygous missense variant, c.1475G>A p.(Gly492Asp), in CNNM4, indicating Jalili syndrome. We report features including advanced dental age, crossbite, developmental delay, expanding genotypic and phenotypic spectra of Jalili syndrome, and perform the prenatal genetic testing that helps avoid unnecessary pregnancy termination.
Asunto(s)
Amelogénesis Imperfecta , Proteínas de Transporte de Catión , Distrofias de Conos y Bastones , Retinitis Pigmentosa , Humanos , Distrofias de Conos y Bastones/genética , Amelogénesis Imperfecta/diagnóstico , Amelogénesis Imperfecta/genética , Retinitis Pigmentosa/genética , Proteínas de Transporte de Catión/genéticaRESUMEN
BACKGROUND: Various orodental problems affect patients with inborn errors of immunity (IEI), but there are limited studies on these issues. AIM: To study orodental status and its confounding factors in patients with IEI. DESIGN: Caries, enamel defects, gingival, and soft tissue conditions were examined. Data on patient characteristics, dental hygiene habits, dental attendance, and household income were collected. Statistical analysis and logistic regression were performed. RESULTS: Forty-five participants with a mean age of 9.20 ± 6.41 years were included. Almost all participants had gingivitis (42 of 45; 93.3%), whereas a small number had periodontitis (five of 45; 11.1%). Calculus was found in 33 (73.3%) and caries in 30 (66.7%). Mucosal ulcers, enamel defects, and candidiasis were observed in 23 of 45 (51.1%), 16 of 43 (37.2%), and six of 43 (14.0%), respectively. Chances of having caries, moderate-to-severe gingivitis, periodontitis, calculus, and ulcers increased with age. Taking antibiotics in the last two months increased the risk of caries by five times. Lower income increased the risk of calculus deposit by nine times. CONCLUSION: Gingivitis, calculus, caries, and mucosal ulcers were the most common orodental findings in patients with IEI. Antibiotics increased the risk of caries, and low-income children had higher calculus accumulation.