TY - JOUR
AU1 - McTaggart, Steven J.
AU2 - Craig, J.
AU3 - MacMillan, John
AU4 - Burke, J. R.
AB - 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.
TI - Familial occurrence of idiopathic infantile hypercalcemia
JF - Pediatric Nephrology
DO - 10.1007/s004670050678
DA - 1999-09-15
UR - https://www.deepdyve.com/lp/springer-journals/familial-occurrence-of-idiopathic-infantile-hypercalcemia-x0zTzI7PcU
SP - 668
EP - 671
VL - 13
IS - 8
DP - DeepDyve
ER -