Barakat syndrome
Barakat Syndrome
Barakat syndrome (pronounced: baa-raa-kaat syn-drome), also known as HDR syndrome, is a rare genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease.
Etymology
The syndrome is named after the Lebanese-American pediatrician, Dr. Amin J. Barakat, who first described the condition in 1977. The term "HDR" is an acronym for the three main features of the syndrome: Hypoparathyroidism, Deafness, and Renal disease.
Definition
Barakat syndrome is a genetic disorder that affects the parathyroid glands, kidneys, and the ability to hear. The syndrome is caused by mutations in the GATA3 gene.
Symptoms
The symptoms of Barakat syndrome can vary greatly among individuals. The most common symptoms include:
- Hypoparathyroidism: This condition results in low levels of parathyroid hormone, leading to low levels of calcium in the blood. Symptoms can include muscle cramps, seizures, and tingling in the hands, feet, and lips.
- Sensorineural deafness: This is a type of hearing loss that occurs from damage to the inner ear or nerve pathways from the inner ear to the brain.
- Renal disease: This can range from mild kidney dysfunction to end-stage renal disease.
Diagnosis
Diagnosis of Barakat syndrome is based on the presence of at least two of the three main features of the syndrome. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Barakat syndrome is symptomatic and supportive. This may include calcium and vitamin D supplements for hypoparathyroidism, hearing aids or cochlear implants for deafness, and dialysis or kidney transplantation for renal disease.
See also
References
External links
- Medical encyclopedia article on Barakat syndrome
- Wikipedia's article - Barakat syndrome
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