Garty B Z, Eisenstein B, Sandbank J, Kaffe S, Dagan R, Gadoth N
Department of Paediatrics, Beilinson Medical Centre, Petah Tiqva, Israel.
J Med Genet. 1994 Feb;31(2):121-5. doi: 10.1136/jmg.31.2.121.
Three sibs born to consanguineous parents had congenital nephrotic syndrome, microcephaly, and psychomotor retardation. Pathology of the kidneys showed diffuse mesangial sclerosis with deposits of IgG and C3 in the mesangium and glomerular basement membranes. All three children died before the age of 3 years. Of 19 published cases of children with the association of congenital nephrotic syndrome and microcephaly, only four had histological evidence of diffuse mesangial sclerosis, and two of their sibs probably had the same disease. The association of nephrotic syndrome owing to congenital diffuse mesangial sclerosis, microcephaly, and mental retardation appears to be a distinct syndrome with an autosomal recessive mode of inheritance.
近亲结婚的父母所生的三个同胞患有先天性肾病综合征、小头畸形和精神运动发育迟缓。肾脏病理学检查显示弥漫性系膜硬化，系膜和肾小球基底膜中有IgG和C3沉积。三个孩子均在3岁前死亡。在已发表的19例先天性肾病综合征合并小头畸形的儿童病例中，只有4例有弥漫性系膜硬化的组织学证据，其中2例的同胞可能患有相同疾病。由先天性弥漫性系膜硬化引起的肾病综合征、小头畸形和智力发育迟缓之间的关联似乎是一种具有常染色体隐性遗传模式的独特综合征。
