| Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene. | |
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MedLine Citation:
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PMID: 17110864 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 2-week-old infant presented with bilateral rib fractures, hypercalcemia, and subperiosteal bone erosions. Parathyroid hormone levels were elevated and urine calcium low. Her parent's laboratory test results were normal. Gene sequencing revealed a new mutation of the calcium-sensing receptor gene, causing severe neonatal hyperparathyroidism, a variant of hypocalciuric hypercalcemia. This is a rare cause of neonatal hyperparathyroidism and nonabusive fractures. |
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Authors:
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Kristin Nyweide; Kenneth W Feldman; Daniel F Gunther; Stephen Done; Charlotte Lewis; Claire Van Eenwyk |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric emergency care Volume: 22 ISSN: 1535-1815 ISO Abbreviation: Pediatr Emerg Care Publication Date: 2006 Nov |
Date Detail:
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Created Date: 2006-11-19 Completed Date: 2006-12-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8507560 Medline TA: Pediatr Emerg Care Country: United States |
Other Details:
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Languages: eng Pagination: 722-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of the University of Washington School of Medicine, Children's Hospital and Regional Medical Center, Seattle, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Substitution* Calcium / urine* Child Abuse / diagnosis Diagnosis, Differential Female Fractures, Spontaneous / etiology* Heart Murmurs Humans Hypercalcemia / etiology* Hyperparathyroidism, Primary / blood, complications, genetics* Infant, Newborn Mutation, Missense* Parathyroid Hormone / blood Point Mutation* Receptors, Calcium-Sensing / deficiency, genetics* Respiration Disorders / etiology Rib Fractures / etiology* |
| Chemical | |
Reg. No./Substance:
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0/Parathyroid Hormone; 0/Receptors, Calcium-Sensing; 7440-70-2/Calcium |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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