Zugor V, Zenker M, Schrott K M, Schott G E
Urologische Universitätsklinik mit Poliklinik der FAU Erlangen-Nürnberg.
Aktuelle Urol. 2006 Jan;37(1):64-6. doi: 10.1055/s-2005-870912.
Frasier syndrom is an autosomal dominant, hereditary disease characterized by nephropathy, gonadal dysgenesis and risk of gonadal blastoma in early childhood. To date, in many patients with Frasier syndrome WT1 mutations have been found, occurring exclusively as germ-line mutations of the alternative splicing donor site in intron 9. A Wilms tumor is seen only rarely in this clinical entity. In the present paper we describe the clinical course of a patient with Frasier syndrome confirmed by molecular genetic analysis.
Our patient with Frasier syndrome as confirmed by molecular genetic analysis is now 19 years old. The patient became dependent on dialysis due to nethropathy in the form of focal sclerosing glomerulonephritis and terminal renal insufficiency. A kidney transplantation in the left iliac fossa together with new implantation of the ureter according to Dodson. For prophylactic reasons on account of the high risk of gonadal blastoma associated with the disease and sonographically detected microlithiasis in both testicles we performed one year later an inguinal castration. Histology revealed the picture of a severe tubular testicular atrophy with arrested spermatogenesis and focal intratubular germ-line neoplasia.
This case report shows that, besides our already published series with Denys-Drash syndrome, WT1 mutations may also be associated with the so-called Frasier syndrome. For children with Frasier syndrome confirmed by molecular genetic analysis and loss of function of the testicles, we recommend performance of a prophylactic castration. We also suggest that phenotypical female patients with focal sclerosing glomerulonephritis be examined for WT1 mutations.
弗雷泽综合征是一种常染色体显性遗传性疾病，其特征为肾病、性腺发育不全以及儿童早期发生性腺母细胞瘤的风险。迄今为止，在许多弗雷泽综合征患者中已发现WT1突变，这些突变仅作为第9内含子中选择性剪接供体位点的种系突变出现。在这种临床病症中，肾母细胞瘤仅罕见发生。在本文中，我们描述了一名经分子遗传学分析确诊为弗雷泽综合征患者的临床病程。
经分子遗传学分析确诊为弗雷泽综合征的我们的患者现19岁。该患者因局灶性硬化性肾小球肾炎形式的肾病和终末期肾功能不全而依赖透析。根据多德森方法，在左髂窝进行了肾移植并新植入了输尿管。出于预防性原因，鉴于该疾病相关的性腺母细胞瘤高风险以及超声检查发现双侧睾丸微结石症，我们在一年后进行了腹股沟去势手术。组织学显示为严重的睾丸小管萎缩，伴有精子发生停滞和局灶性小管内种系肿瘤形成。
本病例报告表明，除了我们已发表的伴有迪尼斯-德拉什综合征的系列病例外，WT1突变也可能与所谓的弗雷泽综合征相关。对于经分子遗传学分析确诊为弗雷泽综合征且睾丸功能丧失的儿童，我们建议进行预防性去势手术。我们还建议对患有局灶性硬化性肾小球肾炎的表型女性患者进行WT1突变检测。
