Abstract
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.
MeSH terms
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Acidosis, Renal Tubular / diagnosis
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Acidosis, Renal Tubular / diet therapy
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Acidosis, Renal Tubular / genetics*
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Bicarbonates / administration & dosage
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Calcinosis / diagnosis
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Calcinosis / diet therapy
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Calcinosis / genetics
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Calcium / blood
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Calcium / urine*
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Calcium, Dietary / administration & dosage
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Chromosome Aberrations / diagnosis
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Chromosome Aberrations / diet therapy
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Female
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Humans
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Hypercalcemia / diagnosis
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Hypercalcemia / diet therapy
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Hypercalcemia / genetics
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Hyperparathyroidism / diagnosis
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Hyperparathyroidism / diet therapy
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Hyperparathyroidism / genetics*
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Infant, Newborn
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Kidney Diseases / diagnosis
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Kidney Diseases / diet therapy
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Kidney Diseases / genetics
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Male
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Parathyroid Hormone / blood
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Sodium / administration & dosage
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Sodium Bicarbonate
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Vitamin D / administration & dosage
Substances
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Bicarbonates
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Calcium, Dietary
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Parathyroid Hormone
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Vitamin D
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Sodium Bicarbonate
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Sodium
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Calcium