Glomerulonephritis in Youth With Dystrophic Epidermolysis Bullosa.
Glomerulonephritis in Youth With Dystrophic Epidermolysis Bullosa.
复制标题
青年肾小球肾炎伴营养不良性大疱性表皮病。
DOI：
10.1016/j.ekir.2020.10.038
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发表时间：
2021-03
影响因子：
6
通讯作者：
Lucky AW
中科院分区：
文献类型：
--
作者：
Hughley E;Nehus EJ;VandenHeuvel K;Augsburger BD;Jain NG;Lucky AW
大疱性表皮病（EB）是一组罕见的遗传性疾病，涉及编码维持皮肤完整性所需的结构蛋白的基因（如COL7A1）突变。这些突变导致皮肤脆弱和随后的不愈合糜烂和疤痕。由于这些突变也部分表达在其他上皮和间质组织中，EB患者可能会产生继发性后果，如营养不良和累及肾脏系统的皮外表现。交界性EB全身重度和隐性营养不良性EB全身重度患者特别容易发生肾脏受累，并可能进展为肾衰竭。1例如，国家大疱性表皮病登记处报告称，肾衰竭是3.6%的复发性营养不良性全身性重度EB（RDEB）成人死亡的归因原因，平均死亡年龄为24岁，35岁时肾衰竭死亡的累积风险为12.3%。1在病例报告中也描述了成人和儿童EB人群的肾脏受累，原因有多种，主要是感染后肾小球肾炎（GN）、免疫球蛋白（IG）A肾病、慢性间质性肾炎、继发性淀粉样变性和先天性肾病综合征。2，3，4，5，6然而，关于EB患者肾脏疾病的病理生理学仍有许多未知之处。该病例系列描述了5例在我们机构接受营养不良性EB治疗的儿童患者，这些患者发生GN并接受肾活检。我们描述其独特的临床表现和组织病理学发现。
Epidermolysis bullosa (EB) is a rare group of genetic conditions involving mutations in genes such as COL7A1 that encode structural proteins required to maintain skin integrity. These mutations lead to skin fragility and subsequent nonhealing erosions and scarring. Because these mutations are also partially expressed in other epithelial and mesenchymal tissues, patients with EB may have secondary consequences, such as malnutrition and extracutaneous manifestations involving the renal system. Those with junctional EB generalized severe and recessive dystrophic EB generalized severe are particularly susceptible to renal involvement and may progress to renal failure. 1 For example, the National Epidermolysis Bullosa Registry reported renal failure was the attributed cause of death in 3.6% of adults with recessively dystrophic EB generalized severe (RDEB) with a mean age at death of 24 years, and a cumulative risk of death from renal failure of 12.3% at age 35 years. 1 Renal involvement in both the adult and pediatric EB population has also been described in case reports owing to a variety of causes, predominantly postinfectious glomerulonephritis (GN), immunoglobulin (Ig) A nephropathy, chronic interstitial nephritis, secondary amyloidosis, and congenital nephrotic syndrome. 2, 3, 4, 5, 6 However, much remains unknown about the pathophysiology of renal disease in patients with EB. This case series describes 5 pediatric patients treated at our institution for dystrophic EB in whom GN developed and who underwent renal biopsy. We describe their unique clinical presentation and histopathologic findings.
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影响因子：
6.6
作者：
Fine, JD;Johnson, LB;Suchindran, C
通讯作者：
Suchindran, C
影响因子：
19.6
作者：
Servais, Aude;Noel, Laure-Helene;Fremeaux-Bacchi, Veronique
通讯作者：
Fremeaux-Bacchi, Veronique
影响因子：
8
作者：
Hata, D;Miyazaki, M;Miyazaki, K
通讯作者：
Miyazaki, K
影响因子：
19.6
作者：
Pickering, Matthew C.;D'Agati, Vivette D.;Nester, Carla M.;Smith, Richard J.;Haas, Mark;Appel, Gerald B.;Alpers, Charles E.;Bajema, Ingeborg M.;Bedrosian, Camille;Braun, Michael;Doyle, Mittie;Fakhouri, Fadi;Fervenza, Fernando C.;Fogo, Agnes B.;Fremeaux-Bacchi, Veronique;Gale, Daniel P.;de Jorge, Elena Goicoechea;Griffin, Gene;Harris, Claire L.;Holers, V. Michael;Johnson, Sally;Lavin, Peter J.;Medjeral-Thomas, Nicholas;Morgan, B. Paul;Nast, Cynthia C.;Noel, Laure-Helene;Peters, D. Keith;Rodriguez de Cordoba, Santiago;Servais, Aude;Sethi, Sanjeev;Song, Wen-Chao;Tamburini, Paul;Thurman, Joshua M.;Zavros, Michael;Cook, H. Terence
通讯作者：
Cook, H. Terence
影响因子：
168.9
作者：
Gale, Daniel P.;de Jorge, Elena Goicoechea;Cook, H. Terence;Martinez-Barricarte, Ruben;Hadjisavvas, Andreas;McLean, Adam G.;Pusey, Charles D.;Pierides, Alkis;Kyriacou, Kyriacos;Athanasiou, Yiannis;Voskarides, Konstantinos;Deltas, Constantinos;Palmer, Andrew;Fremeaux-Bacchi, Veronique;Rodriguez de Cordoba, Santiago;Maxwell, Patrick H.;Pickering, Matthew C.
通讯作者：
Pickering, Matthew C.