Barakat-Perenthaler Syndrome

Barakat-Perenthaler Syndrome is a rare genetic disorder characterized by a combination of symptoms, including hypoparathyroidism, sensorineural deafness, and renal disease. This syndrome is also known by its acronym HDR Syndrome, which stands for the primary features of the condition: Hypoparathyroidism, Deafness, and Renal disease. The syndrome is named after A. Barakat and I. Perenthaler, who were among the first to describe the condition in detail.

Etiology

Barakat-Perenthaler Syndrome is caused by mutations in the GATA3 gene, which is located on chromosome 10p14. The GATA3 gene plays a crucial role in the development and function of the parathyroid glands, kidneys, and inner ear, explaining the triad of symptoms observed in affected individuals. The condition is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, there are cases where the syndrome occurs due to a new mutation in the gene and is not inherited from either parent.

Clinical Features

The clinical manifestations of Barakat-Perenthaler Syndrome can vary significantly among individuals, even within the same family. The primary features include:

• Hypoparathyroidism: This condition results from underactivity of the parathyroid glands, leading to low levels of calcium in the blood (hypocalcemia), which can cause muscle cramps, seizures, and dental abnormalities.
• Sensorineural Deafness: Hearing loss of this type is caused by damage to the inner ear or the nerve pathways from the inner ear to the brain.
• Renal Disease: The kidney problems associated with the syndrome can range from mild anomalies to severe renal failure, necessitating dialysis or kidney transplantation.

Additional features may include developmental delays, growth retardation, and a variety of other endocrinological and neurological abnormalities.

Diagnosis

Diagnosis of Barakat-Perenthaler Syndrome is based on the clinical presentation and can be confirmed through genetic testing to identify mutations in the GATA3 gene. Prenatal diagnosis is possible if there is a known family history of the syndrome.

Treatment

There is no cure for Barakat-Perenthaler Syndrome, and treatment is symptomatic and supportive. Management may include:

• Calcium and vitamin D supplements to manage hypocalcemia
• Hearing aids or cochlear implants for sensorineural deafness
• Regular monitoring and treatment for renal disease, which may include medication, dialysis, or kidney transplantation in severe cases

Prognosis

The prognosis for individuals with Barakat-Perenthaler Syndrome varies depending on the severity of the symptoms. With appropriate management, most affected individuals can lead relatively normal lives. However, those with severe renal disease may have a poorer prognosis.

See Also

• Hypoparathyroidism
• Sensorineural hearing loss
• Renal disease

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