Pseudoxanthoma elasticum and nephrolithiasis

被引：12
作者：
Fabre, B
Bayle, P
Bazex, J
Durand, D
Lamant, L
Chassaing, N
机构：
[1] CHU Purpan, Dermatol Serv, F-31059 Toulouse, France
[2] CHU Purpan, Serv Anatomopathol, Toulouse, France
[3] CHU Purpan, Serv Genet, Toulouse, France
来源：
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2005年 / 19卷 / 02期
关键词：
pseudoxanthoma elasticum; nephrolithiasis; ABCC6; mutation; phosphate-calcium metabolism;
D O I：
10.1111/j.1468-3083.2005.01007.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
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, hyperpbosphaturia, 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.
引用
收藏
页码：212 / 215
页数：4
相关论文
共 15 条
  • [1] BACCARANICONTRI M, 1994, EUR J HISTOCHEM, V38, P111
  • [2] The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter
    Beck, K
    Hayashi, K
    Nishiguchi, B
    Le Saux, O
    Hayashi, M
    Boyd, CD
    [J]. JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 2003, 51 (07) : 887 - 902
  • [3] Mutations in ABCC6 cause pseudoxanthoma elasticum
    Bergen, AAB
    Plomp, AS
    Schuurman, EJ
    Terry, S
    Breuning, M
    Dauwerse, H
    Swart, J
    Kool, M
    van Soest, S
    Baas, F
    ten Brink, JB
    de Jong, PTVM
    [J]. NATURE GENETICS, 2000, 25 (02) : 228 - 231
  • [4] Cnudde F, 1996, ANN DERMATOL VENER, V123, P563
  • [5] FRANCES C, 1987, ANN DERMATOL VENER, V114, P359
  • [6] Hyperreactivity of pseudoxanthoma elasticum-affected dermis to vitamin D3
    Hamamoto, Y
    Nagai, K
    Yasui, H
    Muto, M
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2000, 42 (04) : 685 - 687
  • [7] Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)
    Iliás, A
    Urbán, Z
    Seidl, TL
    Le Saux, O
    Sinkó, E
    Boyd, CD
    Sarkadi, B
    Váradi, A
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (19) : 16860 - 16867
  • [8] Le Saux O, 2001, ANN DERMATOL VENER, V128, P943
  • [9] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
    Le Saux, O
    Beck, K
    Sachsinger, C
    Silvestri, C
    Treiber, C
    Gring, H
    Johnson, E
    De Paepe, A
    Pasquali-Ronchetti, I
    Bercovitch, L
    Terry, SF
    Boyd, C
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 613 - 613
  • [10] CLASSIFICATION OF PSEUDOXANTHOMA ELASTICUM - REPORT OF A CONSENSUS CONFERENCE
    LEBWOHL, M
    NELDNER, K
    POPE, FM
    DEPAEPE, A
    CHRISTIANO, AM
    BOYD, CD
    UITTO, J
    MCKUSICK, VA
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1994, 30 (01) : 103 - 107
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