Enamel-renal syndrome

Autosomal recessive - en

Enamel-renal syndrome is a rare genetic disorder characterized by abnormalities in dental enamel and kidney function. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected.

Signs and Symptoms

Individuals with enamel-renal syndrome typically present with the following features:

• Amelogenesis imperfecta: This refers to the defective formation of dental enamel, leading to discolored, pitted, or grooved teeth that are prone to rapid wear and decay.
• Nephrocalcinosis: This is the accumulation of calcium in the kidneys, which can impair kidney function and lead to chronic kidney disease.
• Hypoplasia: Underdevelopment or incomplete development of tissues or organs, particularly affecting the teeth and kidneys in this syndrome.

Genetics

Enamel-renal syndrome is caused by mutations in the FAM20A gene. The FAM20A gene provides instructions for making a protein that is involved in the formation of dental enamel and the normal functioning of the kidneys. Mutations in this gene disrupt these processes, leading to the characteristic features of the syndrome.

Diagnosis

Diagnosis of enamel-renal syndrome is based on clinical evaluation, family history, and genetic testing. Dental examination reveals the characteristic enamel defects, while imaging studies such as ultrasound or CT scan can detect nephrocalcinosis. Genetic testing can confirm the diagnosis by identifying mutations in the FAM20A gene.

Management

There is no cure for enamel-renal syndrome, and treatment is primarily supportive and symptomatic. Management strategies include:

• Dental care: Regular dental check-ups, use of dental sealants, and restorative procedures to manage enamel defects and prevent tooth decay.
• Kidney care: Monitoring kidney function, managing nephrocalcinosis, and addressing any complications related to chronic kidney disease.

Prognosis

The prognosis for individuals with enamel-renal syndrome varies depending on the severity of kidney involvement. With appropriate dental and medical care, many individuals can manage the symptoms and maintain a good quality of life.

Related Pages

• Amelogenesis imperfecta
• Nephrocalcinosis
• Autosomal recessive
• FAM20A