ISSN:
1432-198X
Keywords:
Key words Idiopathic infantile hypercalcemia
;
Hypercalciuria
;
1
;
25-Dihydroxyvitamin D3
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st 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 D3 levels, no conclusions regarding the pathogenesis of this condition could be drawn.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050678
Permalink
