HYPOPARATHYROIDISM, DEAFNESS, AND RENAL FAILURE: A CASE OF BARAKAT SYNDROME
European Journal of Molecular & Clinical Medicine,
2020, Volume 7, Issue 11, Pages 5723-5725
AbstractBarakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease.
Case report: We report a rare case of Barakat Syndrome (HDR Syndrome) a developmental disorder associated with mutations in the GATA3 gene.
Conclusion: It emphasises the need for HDR syndrome to be considered in the differential diagnosis of persistent hypocalcaemia with sensorineural deafness and/or renal involvement, and for appropriate genetic evaluation to be done to confirm the diagnosis.
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