| Pseudoxanthoma elasticum and nephrolithiasis. | |
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MedLine Citation:
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PMID: 15752294 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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B Fabre; P Bayle; J Bazex; D Durand; L Lamant; N Chassaing |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 2005-03-08 Completed Date: 2005-08-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9216037 Medline TA: J Eur Acad Dermatol Venereol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 212-5 Citation Subset: IM |
Affiliation:
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Service de Dermatologie, CHU Purpan, 31059 Toulouse cedex, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Calcium / metabolism Humans Kidney Calculi / complications* Male Mutation Phosphates / metabolism Pseudoxanthoma Elasticum / complications*, genetics Recurrence Skin / pathology |
| Chemical | |
Reg. No./Substance:
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0/Phosphates; 7440-70-2/Calcium |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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