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

Internal Medicine

Volumn 47, Issue 11, 2008, Pages 1003-1007

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

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

Author keywords

HDR syndrome; Polyendocrine syndrome; Renal tubular acidosis

Indexed keywords

CITRATE POTASSIUM SODIUM; LEVOTHYROXINE; STEROID; TESTOSTERONE; VITAMIN D;

ACIDEMIA; ADULT; AMINOACIDURIA; ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; ENDOCRINE DISEASE; ERYTHROCYTE SEDIMENTATION RATE; EVOKED BRAIN STEM AUDITORY RESPONSE; FANCONI RENOTUBULAR SYNDROME; HDR SYNDROME; HOSPITAL ADMISSION; HUMAN; HYPERURICOSURIA; HYPOKALEMIA; HYPOPARATHYROIDISM; HYPOPHOSPHATEMIC RICKETS; KIDNEY CALCIFICATION; KIDNEY DISEASE; KIDNEY TUBULE ACIDOSIS; MALE; PERCEPTION DEAFNESS; RENAL DIABETES; URINALYSIS; AUTOIMMUNE POLYENDOCRINOPATHY; NEPHROLITHIASIS; SYNDROME;

ACIDOSIS, RENAL TUBULAR; ADULT; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOPARATHYROIDISM; MALE; NEPHROCALCINOSIS; NEPHROLITHIASIS; POLYENDOCRINOPATHIES, AUTOIMMUNE; SYNDROME;

EID: 48249139479     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.47.0917     Document Type: Article

References (14)

1. Laing CM. Renal tubular acidosis: developments in our understanding of the molecular basis. Int J Biochem Cell Biol 37: 1151-1161, 2005.
2. Herrin TJ. Renal tubular acidosis. In: Pediatric Nephrology. 4th edn. Baratt TM, Avner ED, Harmon WE, Eds. Williams & Wilkins, Baltimore, 1999: 565-583.
3. Buckalew VM Jr, Camana RJ. The pathophysiology of distal (type 1) renal tubular acidosis. In: Renal Tubular Disorder: Pathophysiology, Diagnosis, and Management. Gonick HC, Buckalew VM Jr, Eds. Dekker, New York, 1985: 357-386.
4. Domrongkitchaiporn S, Pongsakul C, Stitchantrakul W, et al. (2001) Bone mineral density and histology in distal renal tubular acidosis. Kidney Int 59: 1086-1093, 2001.
5. Kobayashi T, Muto S, Nemoto J, et al. Fanconi's syndrome and distal (Type 1) renal tubular acidosis in a patient with primary Sjögren's syndrome with monoclonal gammopathy of undetermined significance, Clin Nephrol 65: 427-432, 2006.
6. Bilous RW, Murty G, Parkinson DB, et al. Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327: 1069-1074, 1992.
7. Van Esch H, Groenen P, Nesbit MA, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406: 419-422, 2000.
8. Neufeld M, Maclaren N, Blizzard R. Autoimmune polyglandular syndromes. Petriatr Ann 9: 154-162, 1980.
9. Betterle C, Zanchetta R. Update on autoimmune polyendocrine syndromes (APS). Acta Bio Medica 74: 9-33, 2003.
10. Barakat AY, D'Albora JB, Martin. MM, Jose PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediat 91: 61-64, 1977.
11. Hasegawa T, Hasegawa Y, Aso T, Koto S. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del (10)(p13). Am J Med Genet 73: 416-418, 1997.
12. Karet FE, Finberg KE, Nelson RD, et al. Mutations in the gene encoding BJ subunit of H+-ATPase cause renal tubular acidosis with sensorinenral deafness. Nat Genet 21: 84-90, 1999.
13. Agroyannis BJ, Koutsikos DK, Tzanatos RA, Konstadinidou IK. Sodium thiosulphate in the treatment of renal tubular acidosis 1 with nephrocalcinosis: case report. Scand J Urol Nephrol 28: 107-108, 1994.
14. Caldas A, Broyer M, Dechaux M, Klienknecht C. Primary distal tubular acidosis in childhood: Clinical study and long term follow up of 28 patients. J Pediatr 121: 233-241, 1992.