Turkish Journal of Nephrology
Case Report

An Uncommon Presentation of HDR Syndrome: Distal Renal Tubular Acidosis in a Patient with Sjögren’s Syndrome

1.

İzmir Bozyaka Training and Research Hospital, Department of Nephrology İzmir, Turkey

2.

İzmir Bozyaka Training and Research Hospital, Department of Internal Medicine, İzmir, Turkey

3.

İzmir Bozyaka Training and Research Hospital, Department of Rheumatology, İzmir, Turkey

4.

İzmir Bozyaka Training and Research Hospital, Department of Radiology, İzmir, Turkey

Turkish J Nephrol 2015; 24: 318-320
DOI: 10.5262/tndt.2015.1003.11
Read: 774 Downloads: 461 Published: 04 February 2019

HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. Haploinsufficiency of GATA3 on chromosome 10p15 is implicated in the pathogenesis of the syndrome. It may manifest itself with clinical features other than the classical triad. Here we report a case of HDR syndrome with concomitant Sjögren’s syndrome in a 33-year-old who female presented with distal renal tubular acidosis (dRTA).

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EISSN 2667-4440