Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia (FHH) is a benign dominantly inherited condition, in which the total and ionized calcium are maintained at values well above the normal range.1 When an affected mother is carrying an unaffected fetus, the fetus is chronically exposed to pathologically high calciu...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1993, Vol.91 (1), p.144-145
Main Authors: POWELI, B. R, BLANCK, E, BENDA, G, BUIST, N. R. M
Format: Article
Language:English
Subjects:
Babies
Biological and medical sciences
Calcium
Calcium - urine
Case studies
Decalcification, Pathologic - diagnostic imaging
Decalcification, Pathologic - etiology
Diseases
Endocrinopathies
Female
Genetic Diseases, Inborn - blood
Genetic Diseases, Inborn - urine
Humans
Hypercalcemia
Hypercalcemia - blood
Hypercalcemia - complications
Hypercalcemia - urine
Hyperparathyroidism
Hyperparathyroidism, Secondary - blood
Hyperparathyroidism, Secondary - etiology
Infant, Newborn
Infants (Newborn)
Medical sciences
Neonatal diseases
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)
Pediatrics
Radiography
Skeletal system
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Summary:Familial hypocalciuric hypercalcemia (FHH) is a benign dominantly inherited condition, in which the total and ionized calcium are maintained at values well above the normal range.1 When an affected mother is carrying an unaffected fetus, the fetus is chronically exposed to pathologically high calcium levels and neonatal hypoparathyroidism would be expected, as we2 and others have reported.3,4 Conversely, when a fetus is affected, but the mother is not, the fetus might be expected to develop hyperparathyroidism, which should manifest at birth. These infants may require emergency surgery5 or may be managed medically until the hyperparathyroidism subsides.6,7 We report here an infant with FHH, a first cousin of our previous case, who presented with hyperparathyroidism and skeletal demineralization.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.91.1.144