Schwartz B R, Lage J M, Pober B R, Driscoll S G
Hum Pathol. 1986 Dec;17(12):1259-63. doi: 10.1016/s0046-8177(86)80570-6.
This paper describes two cases of an unusual renal abnormality discovered in anuric siblings (one male, one female) who were born at 36 and 34 weeks of gestation and died of systemic complications secondary to severe pulmonary hypoplasia shortly after birth. Both gestations were complicated by marked oligohydramnios. Antenatal ultrasound examinations showed slightly enlarged kidneys in the first case and normal kidneys in the second case, with no evidence of hydronephrosis or cystic disease in either. With the exception of enlargement of the first infant's kidneys, autopsies revealed grossly unremarkable kidneys and ureters. Microscopy, however, demonstrated increased glomerulogenesis with normal glomeruli and global immaturity of renal tubules and ducts without concomitant features of dysplasia. Immunoperoxidase staining for epithelial membrane antigen revealed the immaturity or complete absence of proximal convoluted tubules. This precise constellation of findings had not been described previously. One other similar family has been documented in a report implicating genetic factors. In the present cases, the possibility of a cocaine-associated etiology is also addressed.
本文描述了两例在无尿的同胞（一男一女）中发现的罕见肾脏异常病例。这两名婴儿分别在孕36周和34周出生，出生后不久因严重肺发育不全继发的全身并发症死亡。两次妊娠均伴有明显羊水过少。产前超声检查显示，第一例患儿肾脏略增大，第二例患儿肾脏正常，两例均未发现肾积水或囊性疾病迹象。除第一例婴儿肾脏增大外，尸检显示肾脏和输尿管大体上无明显异常。然而，显微镜检查显示肾小球生成增加，肾小球正常，但肾小管和导管整体不成熟，且无发育异常的相关特征。上皮膜抗原免疫过氧化物酶染色显示近端曲管不成熟或完全缺失。此前尚未描述过这种确切的发现组合。一份报告记录了另一个类似的家族，提示存在遗传因素。在本病例中，还探讨了与可卡因相关病因的可能性。
