BACKGROUND Kabuki syndrome (KS) is a genetic disorder caused mainly by de novo pathogenic variants in KMT2D or KDM6A, characterized by recognizable facial features, intellectual disability, and multi-systemic involvement, including short stature, microcephaly, hearing loss, cardiac defects, and additional congenital anomalies. While congenital anomalies of the kidneys and urinary tract (CAKUT) are known manifestations of this disorder, studies focused solely on kidney involvement are scarce, and its prevalence is most likely underestimated. This study aimed to describe the prevalence and nature of CAKUT and other renal manifestations, in a cohort of KS patients followed at a single tertiary center. METHODS All patients who were evaluated at the Sheba Medical Center and received a clinical and/or molecular diagnosis of KS, over a 16-year period (2004-2020), were included. Digital medical records, including ultrasound studies, were reviewed by a team of pediatric nephrologists. RESULTS Thirteen patients were included in the study, at ages ranging from the neonatal period to 20 years. In eight patients, a pathogenic variant in KMT2D was established. CAKUT were detected in 8/13 (61.5%) of patients and varied from hypospadias, hydronephrosis, or double collecting systems to pelvic kidney, kidney asymmetry, horseshoe kidney, or kidney agenesis. One patient experienced kidney failure necessitating transplantation at 20 years of age. CONCLUSIONS Our findings underscore the high prevalence of CAKUT and genitourinary involvement in patients with KS and suggest that assessment by pediatric nephrology specialists is warranted as part of the routine multidisciplinary evaluation of newly diagnosed patients. A higher resolution version of the Graphical abstract is available as Supplementary information.

中文翻译：

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歌舞伎（化妆）综合征患者的肾脏和泌尿道检查结果。

背景歌舞伎综合征（Kabuki Syndrome，KS）是一种主要由 KMT2D 或 KDM6A 从头致病性变异引起的遗传性疾病，其特征是可识别的面部特征、智力障碍和多系统受累，包括身材矮小、小头畸形、听力丧失、心脏缺陷和额外的先天性异常。虽然先天性肾脏和泌尿道异常 (CAKUT) 是这种疾病的已知表现，但仅关注肾脏受累的研究很少，而且其患病率很可能被低估了。本研究旨在描述 CAKUT 和其他肾脏表现的患病率和性质，在一个单一的三级中心跟踪的 KS 患者队列中。方法 所有在 Sheba 医疗中心接受评估并接受 KS 临床和/或分子诊断的患者，包括 16 年期间（2004-2020 年）。包括超声研究在内的数字医疗记录由儿科肾病专家团队进行了审查。结果 13 名患者被纳入研究，年龄从新生儿期到 20 岁不等。在 8 名患者中，确定了 KMT2D 的致病性变异。8/13 (61.5%) 的患者检测到 CAKUT，从尿道下裂、肾积水或双集合系统到盆腔肾、肾不对称、马蹄肾或肾发育不全不等。一名患者在 20 岁时经历了需要移植的肾衰竭。结论 我们的研究结果强调了 KS 患者 CAKUT 和泌尿生殖系统受累的高患病率，并表明儿科肾病专家的评估是新诊断患者常规多学科评估的一部分。图形摘要的更高分辨率版本可作为补充信息。