RENAL-HEPATIC-PANCREATIC DYSPLASIA - A SYNDROME RECONSIDERED
RENAL-HEPATIC-PANCREATIC DYSPLASIA - A SYNDROME RECONSIDERED
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DOI：
10.1002/ajmg.1320260218
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发表时间：
1987-02-01
期刊：
影响因子：
--
通讯作者：
WYBEL, RE
中科院分区：
文献类型：
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作者：
BERNSTEIN, J;CHANDRA, M;WYBEL, RE
Ivemark et al [1959]首次描述了5例婴儿（3例死于剖腹产，2例在出生后1年内死亡）的肾脏、肝脏和胰腺发育不良，这些异常的组合。肾脏畸形包括囊性发育不良、导管分化异常、肾单位分化不足和肾小球囊肿。肝脏异常包括扩大的门管区，包含许多细长的胆管“轮廓”，有小叶周围纤维化的趋势。一名出生后就有胆汁淤积症的儿童的系列肝活检显示，从1 1/2周时的胆管缺乏到7个月时的典型胆管“发育不良”。五个孩子中有四个有肝内胆管扩张，两个大孩子在死前被诊断为Caroli病。胰腺异常包括纤维化和囊肿，实质组织减少。在新生儿期存活的两名儿童中，这些异常的临床和功能反映包括肾功能不全、慢性黄疸和胰岛素依赖型糖尿病。类似的肾脏、肝脏和胰腺异常发生在其他综合征中，包括9三体、Meckel综合征、Jeune、Saldino-Noonan和Elejalde型软骨发育不良和II型谷氨酸尿症。在排除可识别的综合征后，其余的肾-肝-胰腺发育不良病例不一定构成一个同质组。
Five infants, three dying neonatally and two later in the first year of life, had renal, hepatic, and pancreatic dysplasia, a combination of abnormalities first described by Ivemark et al [1959]. The renal malformation consisted of cystic dysplasia, with abnormally differentiated ducts, deficient nephron differentiation, and glomerular cysts. The hepatic abnormality consisted of enlarged portal areas containing numerous elongated biliary "profiles," with a tendency to perilobular fibrosis. Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 1 1/2 wk to typical biliary "dysgenesis" at 7 mo. Four of the five children had intrahepatic ductal dilatation, diagnosed ante mortem in the two older children as Caroli disease. The pancreatic abnormality consisted of fibrosis and cysts, with a diminution of parenchymal tissue. The clinical and functional reflection of these abnormalities in the two children surviving the newborn period included renal insufficiency, chronic jaudice, and insulin-dependent diabetes mellitus. Similar renal, hepatic, and pancreatic abnormalities occur in other syndromes, including trisomy 9, Meckel syndrome, Jeune, Saldino-Noonan, and Elejalde types of chondrodysplasia, and glutaric aciduria II. After exclusion of identifiable syndromes, the remaining cases of renal-hepatic-pancreatic dysplasia do not necessarily constitute a homogeneous group.