A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report.

2.50
Hdl Handle:
http://hdl.handle.net/10147/204629
Title:
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report.
Authors:
Elamin, Wael F; de Buyl, Olivier
Affiliation:
Bantry General Hospital, Bantry, Co, Cork, Ireland. wael@elamin.net.
Citation:
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. 2010, 4:349 J Med Case Reports
Journal:
Journal of medical case reports
Issue Date:
2010
URI:
http://hdl.handle.net/10147/204629
DOI:
10.1186/1752-1947-4-349
PubMed ID:
21034470
Additional Links:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987963/?tool=pubmed
Abstract:
Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families.; We describe an Irish family with hypercalcemia and hypocalciuria. The proband, an 80-year-old Irish woman, presented with hypercalcemia, relative hypocalciuria, and an elevated parathormone level. She also had chronic kidney disease stage 3 and vitamin D deficiency. Two of her sons were also found to be hypercalcemic and hypocalciuric. DNA sequencing identified a novel missense inactivating mutation in the calcium sensing-receptor gene of the proband and her two hypercalcemic sons.; Familial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons. Disorders of calcium metabolism can be multifarious in the elderly. We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia.
Item Type:
Article
Language:
en
ISSN:
1752-1947

Full metadata record

DC FieldValue Language
dc.contributor.authorElamin, Wael Fen
dc.contributor.authorde Buyl, Olivieren
dc.date.accessioned2012-01-25T09:44:11Z-
dc.date.available2012-01-25T09:44:11Z-
dc.date.issued2010-
dc.identifier.citationA novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. 2010, 4:349 J Med Case Reportsen
dc.identifier.issn1752-1947-
dc.identifier.pmid21034470-
dc.identifier.doi10.1186/1752-1947-4-349-
dc.identifier.urihttp://hdl.handle.net/10147/204629-
dc.description.abstractFamilial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families.-
dc.description.abstractWe describe an Irish family with hypercalcemia and hypocalciuria. The proband, an 80-year-old Irish woman, presented with hypercalcemia, relative hypocalciuria, and an elevated parathormone level. She also had chronic kidney disease stage 3 and vitamin D deficiency. Two of her sons were also found to be hypercalcemic and hypocalciuric. DNA sequencing identified a novel missense inactivating mutation in the calcium sensing-receptor gene of the proband and her two hypercalcemic sons.-
dc.description.abstractFamilial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons. Disorders of calcium metabolism can be multifarious in the elderly. We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987963/?tool=pubmeden
dc.titleA novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report.en
dc.typeArticleen
dc.contributor.departmentBantry General Hospital, Bantry, Co, Cork, Ireland. wael@elamin.net.en
dc.identifier.journalJournal of medical case reportsen
dc.description.provinceMunster-

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