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.
Taslipinar
Abdullah
A
Department of Internal Medicine, Division of Endocrinology and Metabolism, Gulhane Military Medical Faculty, Ankara, Turkey.
Kebapcilar
Levent
L
Kutlu
Mustafa
M
Sahin
Mustafa
M
Aydogdu
Aydogan
A
Uckaya
Gokhan
G
Azal
Omer
O
Bolu
Erol
E
Ibrahim Aydin
Halil
H
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