RT Journal Article
SR Electronic
T1 Self-limited Neonatal Familial Hyperparathyroidism Associated With Hypercalciuria and Renal Tubular Acidosis in Three Siblings
JF Pediatrics
JO Pediatrics
FD American Academy of Pediatrics
SP 421
OP 427
VO 86
IS 3
A1 Nishiyama, Soroku
A1 Tomoeda, Shinichi
A1 Inoue, Fumitaka
A1 Ohta, Takao
A1 Matsuda, Ichiro
YR 1990
UL http://pediatrics.aappublications.org/content/86/3/421.abstract
AB Three siblings with neonatal familial hyperparathyroidism diagnosed at age 4 months, 2 months, and 5 days, respectively, were treated. Hypercalciuria, nephrocalcinosis, and renal tubular acidosis were present in each child. In all three, there were higher responses of serum parathyroid hormone to serum calcium and higher elevation of serum calcium with oral calcium loading. The metabolism of vitamin D and calcitonin seemed to be intact. Hypercalcemia associated with the abnormal response of parathyroid hormone secretion disappeared when the children passed the age of approximately 2 years, although renal tubular acidosis and nephrocalcinosis remained. An autosomal recessive inheritance seems likely.