HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Renal Tubular Acidosis and Endocrine Abnormalities

Abdullah Taslipinar; Levent Kebapcilar; Mustafa Kutlu; Mustafa Sahin; Aydogan Aydogdu; Gokhan Uckaya; Omer Azal; Erol Bolu; Halil Ibrahim Aydin

doi:10.2169/internalmedicine.47.0917

CASE REPORTS

HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Renal Tubular Acidosis and Endocrine Abnormalities

Abdullah Taslipinar, Levent Kebapcilar, Mustafa Kutlu, Mustafa Sahin, Aydogan Aydogdu, Gokhan Uckaya, Omer Azal, Erol Bolu, Halil Ibrahim Aydin

著者情報

Abdullah Taslipinar
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Levent Kebapcilar
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Mustafa Kutlu
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Mustafa Sahin
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Aydogan Aydogdu
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Gokhan Uckaya
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Omer Azal
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Erol Bolu
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty
Halil Ibrahim Aydin
Department of Internal Medicine Pediatrics, Division of Metabolism, Gulhane Military Medical Faculty

キーワード: HDR syndrome, renal tubular acidosis, polyendocrine syndrome

ジャーナルオープンアクセス

2008 年 47 巻 11 号 p. 1003-1007

DOI https://doi.org/10.2169/internalmedicine.47.0917

詳細

抄録

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.

責任著者(Corresponding author)

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