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Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

โœ Scribed by Martin R. Pollak; Yah-Huei Wu Chou; Stephen J. Marx; Beat Steinmann; David E. C. Cole; Maria Luisa Brandi; Socrates E. Papapoulos; Fred H. Menko; Geoffrey N. Hendy; Edward M. Brown; Christine E. Seidman; J. G. Seidman

Publisher
Springer
Year
1995
Tongue
English
Weight
123 KB
Volume
9
Category
Article
ISSN
0931-041X

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We studied family members of a large kindred expressing both familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) and found, by PCR amplification of the extracellular calcium-sensing receptor (CASR) gene exons and flanking intronic sequences, that FHH individual

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Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc

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Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CASR), in which the lifelong hypercalcemia is generally asymptomatic. Homozygous loss-of-function CASR mutations manifest as neonatal severe hyperparathyroidism (NSHPT), a