Kinberg J A, Angle C R, Wilson R B
Am J Kidney Dis. 1987 Jun;9(6):507-10. doi: 10.1016/s0272-6386(87)80078-1.
The nephropathy-XY gonadal dysgenesis syndrome in a 17-year-old phenotypical female with focal glomerulosclerosis was associated with renal failure in two sisters, one with crescentic glomerulonephritis at 27 months, and one with membranoproliferative glomerulonephritis at 10 years. Neither the propositus or the siblings had the distinctive mesangial sclerosis of nephropathy-XY dysgenesis, type 1 (Drash syndrome). The association of nephropathy-XY dysgenesis with familial nephritis of heterogeneous pathology suggests that nephropathy-XY dysgenesis, type 2, may relate to separate genetic loci for XY dysgenesis and glomerulopathy or reflect a loss of protection against familial renal disease when the Y chromosome is absent or defective.
一名17岁表型女性患肾病-XY性腺发育不全综合征并伴有局灶性肾小球硬化，其两名姐妹患有肾衰竭，其中一名在27个月时患新月体性肾小球肾炎，另一名在10岁时患膜增生性肾小球肾炎。先证者及其兄弟姐妹均无肾病-XY发育不全1型（德朗综合征）特征性的系膜硬化。肾病-XY发育不全与病理类型各异的家族性肾炎相关，这表明2型肾病-XY发育不全可能与XY发育不全和肾小球病的不同基因位点有关，或者反映出当Y染色体缺失或有缺陷时，对家族性肾脏疾病的保护作用丧失。
