Familial occurrence of idiopathic infantile hypercalcemia

McTaggart, Steven J., Craig, J., MacMillan, John and Burke, J. R. (1999) Familial occurrence of idiopathic infantile hypercalcemia. Pediatric Nephrology, 13 8: 668-671. doi:10.1007/s004670050678

Author McTaggart, Steven J.
Craig, J.
MacMillan, John
Burke, J. R.
Title Familial occurrence of idiopathic infantile hypercalcemia
Journal name Pediatric Nephrology   Check publisher's open access policy
ISSN 0931-041X
Publication date 1999-09
Sub-type Article (original research)
DOI 10.1007/s004670050678
Volume 13
Issue 8
Start page 668
End page 671
Total pages 4
Place of publication New York
Publisher Springer Verlag
Collection year 1999
Language eng
Subject C1
321011 Medical Genetics
730107 Inherited diseases (incl. gene therapy)
Abstract Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the Ist year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. Identification of the gene for Williams syndrome now allows a clear separation of IIH from Williams syndrome. The inheritance and pathogenesis of IIH remains largely unknown, with only sporadic cases reported to date. This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, but more complex inheritance is suggested by the occurrence of hypercalciuria in a number of family members. Although one affected patient demonstrated elevated 1,25-dihydroxyvitamin D-3 levels, no conclusions regarding the pathogenesis of this condition could be drawn.
Keyword Pediatrics
Urology & Nephrology
Idiopathic Infantile Hypercalcemia
1,25-dihydroxyvitamin D-3
Hypocalciuric Hypercalcemia
Neonatal Hyperparathyroidism
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 19 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 10 Jun 2008, 13:38:55 EST