کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6161353 | 1249366 | 2015 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria
ترجمه فارسی عنوان
شیوع بالا و مکانیسم بالقوه بیماری های مزمن کلیه در بیماران مبتلا به پورفیری متناوب حاد
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کلمات کلیدی
مرگ سلولی، بیماری مزمن کلیوی، بیوپسی کلیه، پاتولوژی کلیوی،
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای کلیوی
چکیده انگلیسی
Acute intermittent porphyria (AIP) is a genetic disorder of the synthesis of heme caused by a deficiency in hydroxymethylbilane synthase (HMBS), leading to the overproduction of the porphyrin precursors δ-aminolevulinic acid and porphobilinogen. The aim of this study is to describe the clinical and biological characteristics, the renal pathology, and the cellular mechanisms of chronic kidney disease associated with AIP. A total of 415 patients with HMBS deficiency followed up in the French Porphyria Center were enrolled in 2003 in a population-based study. A follow-up study was conducted in 2013, assessing patients for clinical, biological, and histological parameters. In vitro models were used to determine whether porphyrin precursors promote tubular and endothelial cytotoxicity. Chronic kidney disease occurred in up to 59% of the symptomatic AIP patients, with a decline in the glomerular filtration rate of ~1âml/min per 1.73âm2 annually. Proteinuria was absent in the vast majority of the cases. The renal pathology was a chronic tubulointerstitial nephropathy, associated with a fibrous intimal hyperplasia and focal cortical atrophy. Our experimental data provide evidence that porphyrin precursors promote endoplasmic reticulum stress, apoptosis, and epithelial phenotypic changes in proximal tubular cells. In conclusion, the diagnosis of chronic kidney disease associated with AIP should be considered in cases of chronic tubulointerstitial nephropathy and/or focal cortical atrophy with severe proliferative arteriosclerosis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Kidney International - Volume 88, Issue 2, August 2015, Pages 386-395
Journal: Kidney International - Volume 88, Issue 2, August 2015, Pages 386-395
نویسندگان
Nicolas Pallet, Iadh Mami, Caroline Schmitt, Zoubida Karim, Arnaud François, Marion Rabant, Dominique Nochy, Laurent Gouya, Jean-Charles Deybach, Yichum Xu-Dubois, Eric Thervet, Hervé Puy, Alexandre Karras,