Congenital disorders of glycosylation type I:: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes
Congenital disorders of glycosylation type I:: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes
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DOI：
10.1007/s00247-005-0001-5
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发表时间：
2006-02-01
影响因子：
2.3
通讯作者：
Lonlay, P
中科院分区：
文献类型：
--
作者：
Hertz-Pannier, L;Déchaux, M;Lonlay, P
背景：双侧肾脏高回声的原因有多种。先天性糖基化障碍 (CDG) 是一个快速增长的遗传性疾病家族，其原因是糖蛋白聚糖或其他糖复合物的合成缺陷。目的：描述婴儿和儿童 CDG I 型的肾脏超声检查异常。材料和方法：对 12 名婴儿和儿童进行肾脏超声回顾性研究：8 名 CDG-Ia（6 名多脏器类型，2 名神经类型）、2 名 CDG-Ib 和 2 名 CDG-Ix，以及 6 名详细的肾功能测试。获得了一名 35 周 CDG-Ia 胎儿的肾脏组织学数据。结果：两名患有神经学形式 CDG-Ia 的儿童的肾脏超声结果正常。所有患有多脏器形式 CDG-Ia 或 CDG-Ib 的患者均表现出皮质回声增强和/或锥体异常（小+/-高回声）。两名 CDG-Ix 患者主要累及髓质，其中一名患者出现皮质髓质分化倒置。除两名患者外，所有患者的肾脏大小均正常。胎儿肾脏表现出源自远端肾小管的弥漫性微囊。结论：肾脏高回声在 CDG-I 患者中很常见，与肾功能明显保留形成对比。根据 CDG-I 的类型，US 模式似乎略有不同，并且与产前发生的肾实质微囊性变化一致，可能是由于肾小管糖蛋白糖基化改变继发的纤毛功能障碍所致。目前，CDG-I 在很大程度上仍未得到充分诊断，在排除其他更常见的原因后，应将 CDG-I 添加到儿童肾脏高回声的病因中，尤其是在多脏器受累的情况下。
Background: There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates. Objective: To describe renal sonographic abnormalities in CDG type I in infants and children. Material and Methods: A retrospective study of renal US in 12 infants and children: 8 CDG-Ia (6 multivisceral forms, 2 neurological forms), 2 CDG-Ib, and 2 CDG-Ix, with detailed functional renal tests in 6. Histology of the kidneys of one 35-week fetus with CDG-Ia was available. Results: Renal US was normal in the two children with the neurological form of CDG-Ia. All patients with the multivisceral form of CDG-Ia or with CDG-Ib showed increased cortical echogenicity, and/or abnormal pyramids (small +/- hyperechoic). The two patients with CDG-Ix showed predominant involvement of the medulla, with inverted corticomedullary differentiation in one. Kidney size was normal in all but two patients. The fetal kidneys exhibited diffuse microcysts arising from the distal tubules. Conclusions: Hyperechoic kidneys are common in CDG-I patients, contrasting with grossly preserved renal function. The US pattern seems to differ slightly according to the type of CDG-I, and is consistent with microcystic changes of the renal parenchyma, which occur prenatally, and may be due to ciliary dysfunction secondary to altered glycosylation of tubular glycoproteins. CDG-I, which remains largely underdiagnosed at present, should be added to the causes of hyperechoic kidneys in children, especially in cases of multivisceral involvement, after ruling out other more frequent causes.