PEDIATRICS Vol. 86 No. 3 September 1990, pp. 421-427
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Self-limited Neonatal Familial Hyperparathyroidism Associated With Hypercalciuria and Renal Tubular Acidosis in Three Siblings

Soroku Nishiyama MD1, Shinichi Tomoeda MD1, Fumitaka Inoue MD1, Takao Ohta MD, PhD1, and Ichiro Matsuda MD, PhD1

1 Department of Pediatrics, Kumamoto University Medical School, Japan

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.

Submitted on July 10, 1989
Accepted on October 11, 1989




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