The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
Hakan Döneray1, Takeshi Usui2, Avni Kaya1, Ayşe Sena Dönmez31Atatürk University Faculty Of Medicine, Department Of Pediatric Endocrinology, Erzurum, Turkey 2Kyoto Medical Center, National Hospital Organization, Clinical Research Institute, Kyoto, Japan 3Atatürk University Faculty Of Medicine, Department Of Pediatrics, Erzurum, Turkey
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.
Keywords: HDR syndrome,infant,p.R367X mutation
Hakan Döneray, Takeshi Usui, Avni Kaya, Ayşe Sena Dönmez. The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. J Clin Res Pediatr Endocrinol. 2015; 7(2): 140-143 Manuscript Language: English