Wasilewska Anna, Zoch-Zwierz Walentyna, Tenderenda Edyta, Rybi-Szumińska Agnieszka, Kołodziejczyk Zbigniew
Uniwersytet Medyczny w Białymstoku, Klinika Pediatrii i Nefrologii.
Pol Merkur Lekarski. 2009 Jun;26(156):642-4.
Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism and gonadal dysgenesis. It is caused by mutations in intron 9 of the WT1 gene. Because of its rarity there is limited literature available on the diagnosis and treatment of this syndrome. The aim of the study was to present the clinicopathological findings and molecular analysis of phenotypically female adolescent presenting with severe proteinuria and primary amenorrhea. The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome was discussed. WT1 mutation analysis should be routinely done in females with steroid-resistant nephritic syndrome.
弗雷泽综合征是一种罕见的遗传性疾病，其特征为进行性肾小球病、男性假两性畸形和性腺发育不全。它由WT1基因第9内含子的突变引起。由于其罕见性，关于该综合征诊断和治疗的文献有限。本研究的目的是呈现一名表现为严重蛋白尿和原发性闭经的表型女性青少年的临床病理发现及分子分析。讨论了早期识别弗雷泽综合征及其与迪尼斯-德拉什综合征鉴别的意义。对于患有类固醇抵抗性肾病综合征的女性，应常规进行WT1突变分析。
