HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities

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Taslipinar A., Kebapcilar L., Kutlu M., ŞAHİN M., Aydogdu A., Uckaya G., ...More

INTERNAL MEDICINE, vol.47, no.11, pp.1003-1007, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 11
  • Publication Date: 2008
  • Doi Number: 10.2169/internalmedicine.47.0917
  • Journal Name: INTERNAL MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1003-1007
  • Keywords: HDR syndrome, renal tubular acidosis, polyendocrine syndrome, DYSPLASIA
  • Ankara University Affiliated: No

Abstract

Type 1 (distal) and type 2 (proximal) renal tubular acidosis (RTA) are uncommon disorders, particularly in adults. HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Here, we describe a 19-year-old man with HDR syndrome accompanied by renal tubular acidosis and endocrinopathic changes.