Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia

Internal Medicine

Volumn 40, Issue 2, 2001, Pages 110-113

  Ishida, Shimon ^a,c   Isotani, Haruhiko ^a   Kameoka, Keiichi ^a   Kishi, Toshiyuki ^b  

^a OSAKA MEDICAL COLLEGE   (Japan)

^b Takinomiya General Hospital   (Japan)

^c Hirakata City Hospital   (Japan)

Author keywords

Abdominal CT; Audiogram; Genetic mutation; PTH

Indexed keywords

1-HYDROXYCHOLECALCIFEROL; ALFACALCIDOL; HYDROXYCOLECALCIFEROL;

ADULT; BASAL GANGLION; BLOOD; CALCINOSIS; CASE REPORT; CONGENITAL MALFORMATION; FEMALE; GENETICS; HEARING LOSS; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; KIDNEY; MALE; PATHOLOGY; PEDIGREE; PERCEPTION DEAFNESS; REVIEW; SEIZURE;

ADULT; BASAL GANGLIA; CALCINOSIS; FEMALE; HEARING LOSS, BILATERAL; HEARING LOSS, SENSORINEURAL; HUMANS; HYDROXYCHOLECALCIFEROLS; HYPOCALCEMIA; HYPOPARATHYROIDISM; KIDNEY; MALE; PEDIGREE; SEIZURES;

EID: 0035261120     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.40.110     Document Type: Article

References (16)

1. Isotani H, Fukumoto Y, Kawamura H, et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol (Oxf) 45: 637-641, 1996.
2. Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet 17: 393-398, 1997.
3. Isotani H, Suzuki K, Fukumoto Y, Omote Y, Furukawa K. A case of polyglandular autoimmune syndrome (PGA) type 1 complicated with slowly progressive IDDM. Nippon Naibunpi Gakkai Zasshi 71: 65-72, 1995.
4. Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest 86: 1084-1087, 1990.
5. Parkinson DB, Thakker RV. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1: 149-152, 1992.
6. Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JLH. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 86: 40-45, 1990.
7. Taitz LS, Zarate-Salvador C, Schwartz E. Congenital absence of the parathyroid and thymus glands in an infant (III and IV pharyngeal pouch syndrome). Pediatrics 38: 412-418, 1966.
8. Franceschini P, Testa A, Bogetti G, et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet 42: 112-116, 1992.
9. Barakat AY, D'Albora JB, Martin MM, Jose PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 91: 61-64, 1977.
10. Dahlberg PJ, Borer WZ, Newcomer KL, Yutuc WR. Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am J Med Genet 16: 99-104, 1983.
11. Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RDG. A new syndrome of cogenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66: 193-196, 1991.
12. Holl RW, Loos U, Hetzel WD, Heinze E, Fehm HL. Combined pituitary stimulation test: interactions of hypothalamic releasing hormones in man. J Endoclinol Invest 11: 219-223, 1988
13. 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.
14. Hasegawa T, Hasegawa Y, Aso T, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del (10) (p13). Am J Med Genet 73: 416-418, 1997.
15. Yumita S, Furukawa Y, Sohn HE, Unakami H, Miura R, Yoshinaga K. Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. Tohoku J Exp Med 148: 135-141, 1986.
16. Shankar RR, Haider A, Garvey WT, Freidenberg GR. Multiple endocrinopathies in an infant with fatal neurodegenerative disease. Am J Med Genet 69: 271-279, 1997.