HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities.
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.
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty, Ankara, Turkey.
Abdullah
A
Taslipinar
Levent
L
Kebapcilar
Mustafa
M
Kutlu
Mustafa
M
Sahin
Aydogan
A
Aydogdu
Gokhan
G
Uckaya
Omer
O
Azal
Erol
E
Bolu
Halil
H
Ibrahim Aydin
D000141:Acidosis, Renal Tubular / Q000150:complications*; D000328:Adult; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications*; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications; D053040:Nephrolithiasis / Q000150:complications; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications*; D013577:Syndrome