Arroyo-Parejo Drayer Patricia, Seeherunvong Wacharee, Katsoufis Chryso P, DeFreitas Marissa J, Seeherunvong Tossaporn, Chandar Jayanthi, Abitbol Carolyn L
Division of Pediatric Nephrology, Department of Pediatrics, Holtz Children's Hospital, University of Miami Miller School of Medicine, Miami, FL, United States.
Pediatric Renal Transplantation, Miami Transplant Institute, Jackson Health System, Miami, FL, United States.
Front Pediatr. 2022 Apr 15;10:847295. doi: 10.3389/fped.2022.847295. eCollection 2022.
Mutations of the ( are associated with life-threatening glomerulopathy, disorders of sexual development, Wilm's tumor, and gonadal malignancies. Our objectives were to describe the clinical presentations, age of progression, and onset of complications of through a case series and literature review.
A retrospective study included all patients followed at the University of Miami/Holtz Children's Hospital from January 2000 to December 2020 with a diagnosis of . A literature review of cases was analyzed for clinical manifestations, karyotype, and long-term outcomes.
The was identified in 9 children, median age at presentation of 0.9 years (range 1 week to 7 years). A total of four had female phenotypes, and 5 had abnormalities of male external genitalia, while all had XY karyotypes. All progressed to end-stage kidney disease (ESKD) and received a kidney transplant at a median age of 5 years (1.5-15 years). During a median time of follow-up of 9 years (range 2-28 years), there were 2 allograft losses after 7 and 10 years and no evidence of post-transplant malignancy. From 333 cases identified from the literature review, the majority had 66% (219/333), but the predominant (55%, 183/333). Of the female phenotypes, 32% (69/219) had XY sex reversal. Wilm's tumor occurred in 24%, predominantly in males with gonadal anomalies.
Early recognition of is essential for comprehensive surveillance of potential malignancy, avoidance of immunosuppressants for glomerulopathy, and establishing long-term multidisciplinary management.
（此处原文缺失具体基因名称）突变与危及生命的肾小球病、性发育障碍、肾母细胞瘤和性腺恶性肿瘤有关。我们的目标是通过病例系列和文献综述来描述（此处原文缺失具体基因名称）的临床表现、病情进展年龄和并发症的发生情况。
一项回顾性研究纳入了2000年1月至2020年12月在迈阿密大学/霍尔茨儿童医院随访的所有诊断为（此处原文缺失具体基因名称）的患者。对（此处原文缺失具体基因数量）例病例的文献综述进行了临床表现、核型和长期预后分析。
在9名儿童中发现了（此处原文缺失具体基因名称），就诊时的中位年龄为0.9岁（范围1周-7岁）。共有4名具有女性表型，5名男性外生殖器异常，而所有患者的核型均为XY。所有患者均进展为终末期肾病（ESKD），并在中位年龄5岁（1.5-15岁）时接受了肾移植。在中位随访时间9年（范围2-28年）期间，7年和10年后有2例移植肾失功，且无移植后恶性肿瘤的证据。从文献综述中确定的333例病例中，大多数具有（此处原文缺失具体基因变异类型）66%（219/333），但主要的（此处原文缺失具体基因变异类型）为55%（183/333）。在女性表型中，32%（69/219）有XY性反转。肾母细胞瘤发生率为24%，主要发生在有性腺异常的男性中。
早期识别（此处原文缺失具体基因名称）对于全面监测潜在恶性肿瘤、避免因肾小球病使用免疫抑制剂以及建立长期多学科管理至关重要。
