Inherited epidermolysis bullosa and the risk of death from renal disease: Experience of the National Epidermolysis Bullosa Registry
Inherited epidermolysis bullosa and the risk of death from renal disease: Experience of the National Epidermolysis Bullosa Registry
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DOI：
10.1053/j.ajkd.2004.06.007
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发表时间：
2004-10-01
影响因子：
13.2
通讯作者：
Suchindran, C
中科院分区：
文献类型：
--
作者：
Fine, JD;Johnson, LB;Suchindran, C
背景：个别病例报告和有限的临床系列表明，一些遗传性大疱性表皮松解症（EB）患者可能发生肾功能衰竭。报道的病因包括链球菌感染后肾小球肾炎、继发性淀粉样变性和慢性机械性梗阻。到目前为止，尚无数据可以准确估计该疾病患者肾功能衰竭的死亡风险。方法：使用国家EB登记处16年的数据进行生命表分析，这是一项由联邦政府资助的包括整个美国大陆的纵向流行病学研究。对数据进行分层，以便估计肾功能衰竭的累积和条件性死亡风险。死亡证明确定肾功能衰竭为死亡原因，并从医院记录和对患者直系亲属的访谈中得到证实。结果：35岁时，埃洛珀-西门子隐性营养不良性EB （RDEB-HS）患者肾功能衰竭死亡的累积风险为12.3%。此外，在其他类型的全身性RDEB和接合性EB （JEB）患者中，肾功能衰竭死亡的报道也很少。结论：肾衰竭是成人RDEB-HS的重要死亡原因，仅次于转移性鳞状细胞癌。它也很少发生在乙脑和其他亚型的广泛性RDEB。鉴于我们的数据，早期肾脏受累的医学监测应该成为所有RDEB和JEB成人常规评估的一部分。
Background Isolated case reports and limited clinical series suggested that renal failure may occur in some patients with inherited epidermolysis bullosa (EB). Reported causes have included poststreptococcal glomerulonephritis, secondary amyloidosis, and chronic mechanical obstruction. To date, no data exist that permit an accurate estimation of the risk for death from renal failure in patients with this disease. Methods: Life table analyses were performed using 16 years of data from the National EB Registry, a federally funded longitudinal epidemiological study encompassing the entire continental United States. Data were stratified so that cumulative and conditional risks for death from renal failure could be estimated. Renal failure as cause of death was identified by death certificates and verified from hospital records and interviews with the patients' immediate families. Results: The cumulative risk for death from renal failure among patients with Hallopeau-Siemens recessive dystrophic EB (RDEB-HS) was 12.3% by age 35 years. In addition, deaths from renal failure also were reported rarely in patients with other subtypes of generalized RDEB and in junctional EB (JEB). Conclusion: Renal failure is an important cause of death among adults with RDEB-HS, surpassed only by death from metastatic squamous cell carcinoma. It also rarely may occur in the setting of JEB and other subtypes of generalized RDEB. Given our data, medical surveillance for early renal involvement should become part of the routine evaluation of all adults with RDEB and JEB.