肾尿路(KUT)表现在交界性大疱性表皮松解症(JEB)患者中引起大量发病率,但是疾病的严重程度和临床病程的特征很少。
在大量患有中间JEB的患者中检查KUT表现,诊断和治疗程序,基因型-表型相关性,和结果作为建议的基础,预后,和管理。
在这次回顾展中,纵向案例系列研究,根据临床和遗传结果诊断为JEB的99例患者在弗赖堡的一个皮肤科接受治疗,德国,在18年期间(2003年1月1日至2021年12月31日)进行了评估。临床,实验室,并从患者病历中提取分子遗传参数。
临床特征,自然史,KUT表现的管理,和中间JEB的基因型-表型相关性。
在183名JEB患者中,99(54%)患有中间JEB,并包括在该队列中。该队列包括49名女性患者和50名男性患者。49例女性患者和50例男性患者中的15例均无KUT累及不同程度的泌尿道,导致男性患病率为30%;因此,总体患病率为15%.KUT表现的平均年龄为6.9岁(范围,生命的第一周至20岁;1例患者的年龄不可用)。诊断为KUT受累后的中位随访为13年(范围,3个月至54年)。层粘连蛋白332或整合素β4缺乏患者至少有1个错义或剪接位点遗传变异,分别导致层粘连蛋白332或整合素α6β4的残留表达。KUT并发症的严重程度与皮肤受累程度无关,而与受影响的蛋白质无关。
医生和JEB患者应该意识到KUT参与中间JEB的风险,医生应应用跨学科和个性化的诊断和治疗程序来管理这些并发症.因为这种疾病非常罕见,需要多中心研究才能提出一般性建议。
Kidney-urinary tract (KUT) manifestations cause substantial morbidity in patients with junctional epidermolysis bullosa (JEB), but the spectrum of disease severity and the clinical course have been poorly characterized.
To examine in a large cohort of patients with intermediate JEB the KUT manifestations, diagnostic and therapeutic procedures, genotype-phenotype correlations, and outcomes as a basis for recommendations, prognosis, and management.
In this retrospective, longitudinal case series study, 99 patients with a diagnosis of JEB based on clinical and genetic findings who were treated in a single dermatology department in Freiburg, Germany, were assessed during an 18-year period (January 1, 2003, to December 31, 2021). Clinical, laboratory, and molecular genetic parameters were extracted from patients\' medical records.
Clinical characteristics, natural history, management of KUT manifestations, and genotype-phenotype correlations of intermediate JEB.
Of the 183 patients with JEB, 99 (54%) had intermediate JEB and were included in this cohort. The cohort included 49 female patients and 50 male patients. None of 49 female patients and 15 of 50 male patients had KUT involvement affecting different levels of the urinary tract, resulting in a prevalence of 30% for males; thus, the overall prevalence was 15%. The mean age at onset of KUT manifestations was 6.9 years (range, first weeks of life to 20 years; age was not available for 1 patient). Median follow-up after diagnosis of KUT involvement was 13 years (range, 3 months to 54 years). Patients with laminin 332 or integrin β4 deficiency had at least 1 missense or splice site genetic variant, leading to residual expression of laminin 332 or integrin α6β4, respectively. Severity of KUT complications did not correlate with the extent of skin involvement but with the affected protein.
Physicians and patients with JEB should be aware of the risk for KUT involvement in intermediate JEB, and physicians should apply interdisciplinary and individualized diagnostic and therapeutic procedures for management of these complications. Because this disorder is so rare, multicenter studies are required to make general recommendations.