儿童先天性糖基化紊乱 - 肝脏的组织病理学和超微结构变化。
Congenital disorders of glycosylation in children - Histopathological and ultrastructural changes in the liver.
机构信息
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
出版信息
Pediatr Neonatol. 2021 May;62(3):278-283. doi: 10.1016/j.pedneo.2021.01.017. Epub 2021 Feb 5.
BACKGROUND
Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and their attachment to proteins and lipids. Histologically, liver steatosis, fibrosis and cirrhosis have been reported in CDG. The aim of the study was to characterize the histopathological and ultrastructural liver changes in CDG patients hospitalized in our Institute, and to find the most characteristic features, as articles concerning the liver microscopic features in CDG are sparse.
METHODS
Out of 32 CDG patients diagnosed and followed-up in our Institute, the liver biopsy was performed in 4 of them, including 2 with MPI-CDG, 1 with SRD5A3-CDG, and 1 with PGM1-CDG, as a part of diagnostic process. In one patient, diagnosed post mortem with PMM2-CDG, the histopathological study comprised liver autopsy samples.
RESULTS
The most common histopathological liver finding was the presence of steatosis (4/5) of varying severity, the mixed macro- and microvesicular type as well as the foamy degeneration of hepatocytes. In two patients, liver steatosis was associated with fibrosis, stage 4 (cirrhosis) and 2 according to Batts and Ludwig classification, respectively. In two patients, besides steatosis, mild inflammatory infiltrates composed of lymphoid cells in portal tracts were observed. No correlation between the patient's age and histopathological features was observed.
CONCLUSIONS
The histopathological changes in the liver of CDG patients are miscellaneous; thus, based on the microscopic examination only, we can not identify (even suspect) the exact CDG. The most common histopathologic finding in our cohort of CDG patients was the presence of liver steatosis (of various severity) and foamy degeneration of hepatocytes.
背景
先天性糖基化障碍（CDG）是由于聚糖的合成缺陷及其与蛋白质和脂质的结合缺陷所致。组织学上，CDG 患者已报道有肝脂肪变性、纤维化和肝硬化。本研究的目的是描述我院收治的 CDG 患者的肝组织病理学和超微结构变化，并寻找最具特征性的表现，因为有关 CDG 肝脏微观特征的文章很少。
方法
在我院诊断和随访的 32 例 CDG 患者中，有 4 例行肝活检，包括 2 例 MPI-CDG、1 例 SRD5A3-CDG 和 1 例 PGM1-CDG，作为诊断过程的一部分。在 1 例死后诊断为 PMM2-CDG 的患者中，肝组织病理学研究包括肝脏尸检样本。
结果
最常见的肝组织病理学发现是存在不同程度的脂肪变性（4/5），混合大泡和小泡型以及肝细胞泡沫变性。在 2 例患者中，肝脂肪变性与纤维化相关，根据 Batts 和 Ludwig 分类，分别为 4 期（肝硬化）和 2 期。在 2 例患者中，除脂肪变性外，还观察到门脉区轻度以淋巴细胞为主的炎症浸润。未观察到患者年龄与组织病理学特征之间的相关性。
结论
CDG 患者的肝组织病理学变化多种多样；因此，仅根据显微镜检查，我们无法确定（甚至怀疑）确切的 CDG。在我们的 CDG 患者队列中，最常见的组织病理学发现是存在不同程度的肝脂肪变性（伴有或不伴有）肝细胞泡沫变性。
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