Document Detail

Familial hypocalciuric hypercalcemia: review of three cases.
MedLine Citation:
PMID:  22964128     Owner:  NLM     Status:  Publisher    
Familial hypocalciuric hypercalcemia, also denominated familial benign hypercalcemia, is an uncommon cause of hypercalcemia. It is caused by mutations of the calcium-sensing receptor, which are inherited in an autosomal dominant high-penetrance fashion. Generally, patients are asymptomatic, and heterozygote cases are diagnosed in childhood or adulthood, when diagnostic work-up of an incidentally discovered hypercalcemia ensues. This disorder is characterized by moderate hypercalcemia, with normal parathormone levels and low urine calcium excretion. It is very important to diagnose this condition, as it does not require surgical procedures, unlike primary hyperparathyroidism, which needs parathyroidectomy in 50% of cases. We present 3 cases of familial hypocalciuric hypercalcemia belonging to the same family, and provide an updated review on the topic.
Juana Olivar Roldán; Isabel Pavón de Paz; Paloma Iglesias Bolaños; Teresa Montoya Álvarez; Alberto Fernández Martínez; Susana Monereo Megías
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2008-10-15
Journal Detail:
Title:  Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion     Volume:  55     ISSN:  1579-2021     ISO Abbreviation:  Endocrinol Nutr     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2012-9-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100886482     Medline TA:  Endocrinol Nutr     Country:  -    
Other Details:
Languages:  ENG; SPA     Pagination:  267-269     Citation Subset:  -    
Copyright Information:
Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.
Servicio de Endocrinología y Nutrición. Hospital Universitario de Getafe. Getafe. Madrid. España.
Vernacular Title:
Hipercalcemia hipocalciúrica familiar: a propósito de tres casos en una misma familia.
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