An uncommon presentation of HDR syndrome: Distal renal tubular acidosis in a patient with Sjögren's syndrome

Ok E. S., Tatar E., Yeniay K. P., Işikyakar T., Yargucu Zihni F., Esen Ö., ...Daha Fazla

Turkish Nephrology, Dialysis and Transplantation Journal, cilt.24, sa.3, ss.318-320, 2015 (Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.5262/tndt.2015.1003.11
  • Dergi Adı: Turkish Nephrology, Dialysis and Transplantation Journal
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.318-320
  • Anahtar Kelimeler: HDR Syndrome, Distal renal tubular acidosis, Sjogren's Syndrome
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

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).