Genitourinary complications of inherited epidermolysis bullosa: Experience of the national epidermylosis bullosa registry and review of the literature
Genitourinary complications of inherited epidermolysis bullosa: Experience of the national epidermylosis bullosa registry and review of the literature
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DOI：
10.1097/01.ju.0000143200.86683.2c
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发表时间：
2004-11-01
影响因子：
6.6
通讯作者：
Suchindran, C
中科院分区：
文献类型：
--
作者：
Fine, JD;Johnson, LB;Suchindran, C
目的：研究美国遗传性大疱性表皮松解症(EB)患者中6种泌尿生殖道并发症(尿道口狭窄、尿潴留、膀胱肥大、输尿管狭窄继发肾积水、肾盂肾炎和膀胱炎)发生的频率。材料和方法：对国家EB登记处连续登记的3280名患者进行长达16年的纵向随访。数据按主要EB类型和亚型进行分层。结果：少数患者在所有主要EB亚型中都发生了尿路并发症，其中赫利茨交界型EB(JEB-H)的发生率最高。尿道口狭窄是最常见的并发症，分别占JEB-H和Hallopeau-Siemens隐性营养不良EB(RDEB)患者的11.6%和8.0%。尿潴留、肾积水和膀胱肥大的发生率分别为9.3%、7.0%和4.6%。肾盂肾炎和膀胱炎多见于单纯EB(Koebner变异型)和RDEB逆转型。结论：遗传性EB的任何亚型均可累及尿路，但这些并发症多发生在最严重的交界性和隐性营养不良亚型患者。有必要对生殖道疾病活动的存在进行长期监测，特别是在患有JEB和RDEB的患者中，因为如果不治疗，可能会造成长期的肾脏损伤。
Purpose: We determined the frequency with which 6 genitourinary tract complications (urethral meatal stenosis, urinary retention, bladder hypertrophy, hydronephrosis secondary to ureteral strictures, pyelonephritis and cystitis) occur in inherited epidermolysis bullosa (EB) in the American EB population.Materials and Methods: Up to 16 years of longitudinal followup was done in 3,280 consecutively enrolled patients in the National EB Registry, a National Institutes of Health funded epidemiological study covering the entire continental United States. Data were stratified by major EB type and subtype. Frequencies of occurrence were determined for each of 6 genitourinary tract variables and stratified into 10 mutually exclusive, major EB subtypes.Results: Urinary tract complications occurred in a minority of patients across all major EB subtypes with the highest frequency seen in Herlitz junctional EB (JEB-H). Urethral meatus stenosis was the most common complication, occurring in 11.6% and 8.0% of patients with JEB-H and Hallopeau-Siemens recessive dystrophic EB (RDEB), respectively. Urinary retention, hydronephrosis and bladder hypertrophy occurred in 9.3%, 7.0% and 4.6% of JEB-H cases, respectively. In contrast, pyelonephritis and cystitis were most often seen in the setting of generalized EB simplex (Koebner variant) and inversa RDEB.Conclusions: The urinary tract may be involved in any subtype of inherited EB, although these complications usually arise in patients with the most severe subtypes of junctional and recessive dystrophic disease. Chronic surveillance for the presence of genitourinary tract disease activity is warranted, especially in patients with JEB and RDEB, given the potential for longterm kidney injury if untreated.