In 1977, Barakat et al. described a familial syndrome with nephrotic syndrome, nerve deafness, and hypoparathyroidism in two brothers for the first time. They both died at age of 5 and 8 because of end-stage renal disease. They also reported a male twin from this family who had similar symptoms and died at age of 3 because of chronic kidney disease (CKD) (Barakat et al. 1977). Hypoparathyroidism, sensorial deafness, and renal dysplasia syndrome (HDRS) which is also known as Barakat syndrome is a rare familial genetic syndrome characterized by triad hypoparathyroidism, sensorial deafness, and renal anomalies (Barakat et al. 2018). The prevalence of this syndrome is unknown. The symptoms can appear at any age of life and in both sexes (Orphanet 2018).

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Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome (HDRS)

  • Asmae Akbari,
  • Nima Rezaei

摘要

In 1977, Barakat et al. described a familial syndrome with nephrotic syndrome, nerve deafness, and hypoparathyroidism in two brothers for the first time. They both died at age of 5 and 8 because of end-stage renal disease. They also reported a male twin from this family who had similar symptoms and died at age of 3 because of chronic kidney disease (CKD) (Barakat et al. 1977). Hypoparathyroidism, sensorial deafness, and renal dysplasia syndrome (HDRS) which is also known as Barakat syndrome is a rare familial genetic syndrome characterized by triad hypoparathyroidism, sensorial deafness, and renal anomalies (Barakat et al. 2018). The prevalence of this syndrome is unknown. The symptoms can appear at any age of life and in both sexes (Orphanet 2018).