[Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia].

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Article

[Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia].

Ugeskrift for laeger - 14 Aug 2000

Friis I M, Larsen N E, Lillquist K, Schwarz P

Abstract excerpt

Familial hypocalciuric hypocalcaemia (FHH) is a rare disorder, inherited in an autosomal dominant manner. It has earlier been believed that neonatal severe hyperparathyroidism (NSHPT) is the homozygous form of FHH, but in this case story we show that it is not always like that. We describe a girl who presents with a calcium metabolic disorder from birth. Genetic examination of the girl and her family shows a...

Topics

Alleles
Calcium
Calcium Channels
Female
Humans
Hypercalcemia
Hyperparathyroidism
Infant
Infant, Low Birth Weight
Infant, Newborn
Mutation

Source

Open in PubMed

Identifiers

PMID: 10962966

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