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., ...Daha Fazla

INTERNAL MEDICINE, cilt.47, sa.11, ss.1003-1007, 2008 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 11
  • Basım Tarihi: 2008
  • Doi Numarası: 10.2169/internalmedicine.47.0917
  • Dergi Adı: INTERNAL MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1003-1007
  • Anahtar Kelimeler: HDR syndrome, renal tubular acidosis, polyendocrine syndrome, DYSPLASIA
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Ankara Üniversitesi Adresli: Hayır

Özet

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.