Gaudelus J, Leverger G, Rault G, Nathanson M, Giorno J L, Boccon-Gibod L, Levy M, Broyer M
Arch Fr Pediatr. 1984 Jun-Jul;41(6):409-15.
The authors report 4 cases in 2 different families of a syndrome characterized by nephrotic syndrome of early onset (during the first 2 years of life) and microcephaly. Such an association was previously reported in 5 cases. In 4 it was familial. The study of families suggests an autosomal recessive transmission. Microcephaly was associated with psychomotor retardation, sometimes dysmorphic facies and various neurologic abnormalities. The nephrotic syndrome was characterized by its early onset and prognostic severity. However, the renal histologic lesions were heterogeneous: either minimal glomerular changes with focal and segmental hyalinosis or mesangial sclerosis, or, so-called "microcystic dysplasia". This heterogeneity does not suggest a single genetically determined disorder.
作者报告了2个不同家族中的4例综合征病例，其特征为早发性肾病综合征（在生命的头2年内）和小头畸形。此前曾报道过5例这种关联病例。其中4例为家族性。对这些家族的研究提示为常染色体隐性遗传。小头畸形与精神运动发育迟缓相关，有时伴有面部畸形和各种神经学异常。肾病综合征的特点是起病早且预后严重。然而，肾脏组织学病变是异质性的：要么是肾小球轻微改变伴局灶节段性玻璃样变性或系膜硬化，要么是所谓的“微囊性发育异常”。这种异质性并不提示单一的基因决定疾病。
