Document Detail

Severe arterial hypertension: a possible complication of McCune-Albright syndrome.
MedLine Citation:
PMID:  18958498     Owner:  NLM     Status:  MEDLINE    
McCune-Albright syndrome is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous dysplasia. A somatic point mutation of Gsalpha protein leads to an increase in the Gsalpha-associated hormone activity in McCune-Albright syndrome. Because cyclic adenosine 3',5'-monophosphate stimulates the dopamine beta hydroxylase gene, an activating mutation of the Gsalpha protein may cause the hyperproduction of norepinephrine via dopamine. We report on a 9-year-old girl with McCune-Albright syndrome complicated by severe arterial hypertension. The urinary excretion of norepinephrine was 5- to 10-fold higher than in age-matched controls. Meta-iodobenzylguanidine scintigraphy and positron emission tomography/computed tomography (PET/CT) revealed no hot spots. These findings suggest that severe hypertension might be due to an activating mutation of Gsalpha protein in sympathetic ganglia. Because of the reported association of GNAS1 gene polymorphism with hypertension, our patient provides further evidence for a role of Gsalpha protein in hypertension.
Yasuhisa Ohata; Takehisa Yamamoto; Ikuko Mori; Toru Kikuchi; Toshimi Michigami; Yasuo Imanishi; Kenichi Satomura; Shinobu Ida; Keiichi Ozono
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-10-29
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-05-14     Completed Date:  2009-08-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  871-6     Citation Subset:  IM    
Department of Pediatrics, Minoh City Hospital, Minoh City, Osaka, Japan.
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MeSH Terms
Blood Pressure*
Fibrous Dysplasia, Polyostotic / complications*,  radionuclide imaging,  urine
Hypertension / etiology*,  physiopathology
Norepinephrine / urine*
Positron-Emission Tomography
Radionuclide Imaging
Reg. No./Substance:

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