Document Detail


Pseudoxanthoma elasticum and nephrolithiasis.
MedLine Citation:
PMID:  15752294     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the case of a 42-year-old man with pseudoxanthoma elasticum (PXE) and recurrent bilateral nephrolithiasis. Diagnosis of PXE was made by yellow papules on the neck and ophthalmologic angioid streaks. This diagnosis was confirmed by a skin biopsy (Von Kossa stain) and by genotyping analysis of ABCC6 (homozygous mutation R1138Q). Nephrolithiasis was recurrent and biological investigations showed hypophosphoraemia, hyperphosphaturia, hypercalciuria, normocalcaemia, normal serum parathyroid hormone value, high 1,25-dihydroxy vitamin D value and a renal calcium oxalate stone. ABCC6 encodes for MRP6, a multidrug resistant protein strongly expressed in the liver and kidney. The substrates of the MRP6 remain unknown. As PXE is characterized by calcification of elastic fibres and this patient presents important phosphocalcic anomalies, we discuss the possible implications of MRP6 in the phosphocalcic metabolism.
Authors:
B Fabre; P Bayle; J Bazex; D Durand; L Lamant; N Chassaing
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the European Academy of Dermatology and Venereology : JEADV     Volume:  19     ISSN:  0926-9959     ISO Abbreviation:  J Eur Acad Dermatol Venereol     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-03-08     Completed Date:  2005-08-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9216037     Medline TA:  J Eur Acad Dermatol Venereol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  212-5     Citation Subset:  IM    
Affiliation:
Service de Dermatologie, CHU Purpan, 31059 Toulouse cedex, France.
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MeSH Terms
Descriptor/Qualifier:
Adult
Calcium / metabolism
Humans
Kidney Calculi / complications*
Male
Mutation
Phosphates / metabolism
Pseudoxanthoma Elasticum / complications*,  genetics
Recurrence
Skin / pathology
Chemical
Reg. No./Substance:
0/Phosphates; 7440-70-2/Calcium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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