Taha Doris, Barbar Maha, Kanaan Hassan, Williamson Balfe John
Division of Pediatric Endocrinology, King Faisal Specialist Hospital and Research Center, PO Box 40047, Jeddah 21499, Kingdom of Saudi Arabia.
Am J Med Genet A. 2003 Oct 15;122A(3):269-73. doi: 10.1002/ajmg.a.20267.
We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non-autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato-renal-pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted.
我们报告了一对（共4个兄弟姐妹中的）兄弟姐妹，他们患有轻度面部异常、匀称性宫内生长受限、新生儿非自身免疫性糖尿病（NDM）、严重先天性甲状腺功能减退症（CH）、胆汁淤积、先天性青光眼和多囊肾综合征。肝脏疾病进展为肝纤维化。肾脏疾病的特征是肾脏增大、多个小囊肿，皮质髓质交界分化不足且肾功能正常。在这对兄弟姐妹中观察到的表型是相同的。虽然在伊韦马克综合征（肝-肾-胰综合征）中已有肝脏、肾脏和胰腺受累的组合描述，但两个兄弟姐妹中均存在NDM、CH和青光眼，提示这种表现组合可能描述了一种新的常染色体隐性综合征。有必要对几个候选基因进行突变分析。
