Acquired Pseudoxanthoma elasticum-like syndrome in β-thalassaemia patients

被引：61

作者：

Hamlin, N

Beck, K

Bacchelli, B

Cianciulli, P

Pasquali-Ronchetti, I

Le Saux, O

机构：

[1] Univ Hawaii, Pacific Biomed Res Ctr, Honolulu, HI 96822 USA

[2] Univ Modena & Reggio Emilia, Dept Biomed Sci, Modena, Italy

[3] S Eugenio Hosp, Rome, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2003年 / 122卷 / 05期

关键词：

Pseudoxanthoma elasticum; beta-thalassaemia; ABCC6;

D O I：

10.1046/j.1365-2141.2003.04484.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A significant number of patients diagnosed with beta-thalassaemia develop clinical and histopathological manifestations similar to those of an inherited disorder called Pseudoxanthoma elasticum (PXE). The inherited PXE is caused by mutations in the ATP-binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene and is characterized by mineralized elastic fibres in dermal, vascular and ocular tissues. As no disease-causing variant was found in the ABCC6 gene of 10 beta-thalassaemia patients with a PXE-like phenotype, the present study suggests that the PXE-like symptoms in these beta-thalassaemic patients are not related to ABCC6 mutations.

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收藏

页码：852 / 854

页数：3

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