Document Detail

Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene.
MedLine Citation:
PMID:  17110864     Owner:  NLM     Status:  MEDLINE    
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.
Kristin Nyweide; Kenneth W Feldman; Daniel F Gunther; Stephen Done; Charlotte Lewis; Claire Van Eenwyk
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric emergency care     Volume:  22     ISSN:  1535-1815     ISO Abbreviation:  Pediatr Emerg Care     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-11-19     Completed Date:  2006-12-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8507560     Medline TA:  Pediatr Emerg Care     Country:  United States    
Other Details:
Languages:  eng     Pagination:  722-4     Citation Subset:  IM    
Department of Pediatrics, Division of the University of Washington School of Medicine, Children's Hospital and Regional Medical Center, Seattle, USA.
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MeSH Terms
Amino Acid Substitution*
Calcium / urine*
Child Abuse / diagnosis
Diagnosis, Differential
Fractures, Spontaneous / etiology*
Heart Murmurs
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*
Reg. No./Substance:
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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