Schmitt K, Tulzer G, Tulzer W
Interne Abteilung Landeskinderklinik Linz.
Klin Padiatr. 1992 Mar-Apr;204(2):123-5. doi: 10.1055/s-2007-1025336.
This is a report about a phenotypical normal girl with nephropathy and gonadal dysgenesis. At the age of 2 years 8 months she presented with steroid resistant nephrotic syndrome. Focal segmental glomerulosclerosis was found by biopsy. Because of delayed puberty karyotyping was performed, which revealed 46 XY. Thirteen years after onset of proteinuria she reached end stage renal failure. Gonadal dysgenesis and nephropathy are often indistinguishable from incomplete Drash syndrome. Children with early nephropathy of unknown origin or gonadal dysgenesis should be observed for development of Wilms tumor. When chronic nephropathies are present in girls, karyotyping should be considered.
这是一份关于一名患有肾病和性腺发育不全的表型正常女孩的报告。在2岁8个月时，她出现了类固醇抵抗性肾病综合征。活检发现局灶节段性肾小球硬化。由于青春期发育延迟，进行了染色体核型分析，结果显示为46，XY。蛋白尿出现13年后，她发展到终末期肾衰竭。性腺发育不全和肾病常与不完全型Drash综合征难以区分。患有不明原因早期肾病或性腺发育不全的儿童应观察是否发生肾母细胞瘤。当女孩出现慢性肾病时，应考虑进行染色体核型分析。
