Abstract：
In paediatrics, porto-sinusoidal vascular disease (PSVD) is relatively unknown and probably underdiagnosed. We aimed to describe clinical phenotypes, histology and outcome of children diagnosed with PSVD.
Retrospective multicentre study of children diagnosed with PSVD. Diagnosis of PSVD was based on histopathology reports; liver specimens were re-evaluated by two expert liver pathologists.
Sixty two children diagnosed with PSVD (M/F = 36/26, median age 6.6 years, range 3.3-10.6), from 7 centres, were included. Thirty-six presented with non-cirrhotic portal hypertension, PH, (PH-PSVD Group = 58%) while 26 had a liver biopsy because of chronic elevation of transaminases without PH (noPH-PSVD Group = 42%). On histology review, the two groups differed for the prevalence of obliterative portal venopathy (more prevalent in PH-PSVD, p = 0.005), and hypervascularised portal tracts (more common in noPH-PSVD, p = 0.039), the other histological changes were equally distributed. At multivariate analysis, platelet count ≤185 000/mm3 was the only independent determinant of PH (p < 0.001). After a median follow-up of 7 years (range 3.0-11.2), in PH-PSVD group 3/36 (8%) required TIPS placement, 5/36 (14%) developed pulmonary vascular complications of PH, and 7/36 (19%) required liver transplantation. In noPH-PSVD none progressed to PH nor had complications.
Paediatric patients with PSVD present with two different clinical phenotypes, one characterised by PH and one by chronic elevation of transaminases without PH. PSVD should be included among the conditions causing isolated hypertransaminasaemia. On histology, the differences between the two groups are subtle. Medium-term outcome is favourable in patients without PH; progression of the disease is observed in those with PH.
Retrospective multicentre study of children diagnosed with PSVD. Diagnosis of PSVD was based on histopathology reports; liver specimens were re-evaluated by two expert liver pathologists.
Sixty two children diagnosed with PSVD (M/F = 36/26, median age 6.6 years, range 3.3-10.6), from 7 centres, were included. Thirty-six presented with non-cirrhotic portal hypertension, PH, (PH-PSVD Group = 58%) while 26 had a liver biopsy because of chronic elevation of transaminases without PH (noPH-PSVD Group = 42%). On histology review, the two groups differed for the prevalence of obliterative portal venopathy (more prevalent in PH-PSVD, p = 0.005), and hypervascularised portal tracts (more common in noPH-PSVD, p = 0.039), the other histological changes were equally distributed. At multivariate analysis, platelet count ≤185 000/mm3 was the only independent determinant of PH (p < 0.001). After a median follow-up of 7 years (range 3.0-11.2), in PH-PSVD group 3/36 (8%) required TIPS placement, 5/36 (14%) developed pulmonary vascular complications of PH, and 7/36 (19%) required liver transplantation. In noPH-PSVD none progressed to PH nor had complications.
Paediatric patients with PSVD present with two different clinical phenotypes, one characterised by PH and one by chronic elevation of transaminases without PH. PSVD should be included among the conditions causing isolated hypertransaminasaemia. On histology, the differences between the two groups are subtle. Medium-term outcome is favourable in patients without PH; progression of the disease is observed in those with PH.
摘要：
目标：在儿科，门窦血管疾病(PSVD)相对未知,可能诊断不足.我们的目的是描述临床表型，诊断为PSVD的儿童的组织学和预后。
方法：回顾性多中心研究诊断为PSVD的儿童。PSVD的诊断基于组织病理学报告;肝脏标本由两名专家肝脏病理学家重新评估。
结果：62名诊断为PSVD的儿童（M/F=36/26，中位年龄6.6岁，范围3.3-10.6)，来自7个中心，包括在内。36例表现为非肝硬化门脉高压，PH,（PH-PSVD组=58％），而26人由于无PH的转氨酶慢性升高而进行了肝活检（noPH-PSVD组=42％）。组织学回顾，两组在闭塞性门静脉病的患病率方面存在差异(在PH-PSVD中更为普遍,p=0.005),和高血管化门静脉束(更常见于NOPH-PSVD，p=0.039),其他组织学变化分布均匀。在多变量分析中，血小板计数≤185000/mm3是PH的唯一独立决定因素(p<0.001)。经过7年的中位随访（范围3.0-11.2），在PH-PSVD组3/36（8％）需要TIPS放置，5/36（14%）发展为肺血管并发症的PH，7/36（19％）需要肝移植。在noPH-PSVD中，没有进展为PH，也没有并发症。
结论：患有PSVD的儿科患者存在两种不同的临床表型，一种以PH为特征，一种以无PH的转氨酶慢性升高为特征。PSVD应包括在引起孤立性高转氨酶血症的疾病中。在组织学上，两组之间的差异是微妙的。没有PH的患者的中期结果是有利的；在患有PH的患者中观察到疾病的进展。
方法：回顾性多中心研究诊断为PSVD的儿童。PSVD的诊断基于组织病理学报告;肝脏标本由两名专家肝脏病理学家重新评估。
结果：62名诊断为PSVD的儿童（M/F=36/26，中位年龄6.6岁，范围3.3-10.6)，来自7个中心，包括在内。36例表现为非肝硬化门脉高压，PH,（PH-PSVD组=58％），而26人由于无PH的转氨酶慢性升高而进行了肝活检（noPH-PSVD组=42％）。组织学回顾，两组在闭塞性门静脉病的患病率方面存在差异(在PH-PSVD中更为普遍,p=0.005),和高血管化门静脉束(更常见于NOPH-PSVD，p=0.039),其他组织学变化分布均匀。在多变量分析中，血小板计数≤185000/mm3是PH的唯一独立决定因素(p<0.001)。经过7年的中位随访（范围3.0-11.2），在PH-PSVD组3/36（8％）需要TIPS放置，5/36（14%）发展为肺血管并发症的PH，7/36（19％）需要肝移植。在noPH-PSVD中，没有进展为PH，也没有并发症。
结论：患有PSVD的儿科患者存在两种不同的临床表型，一种以PH为特征，一种以无PH的转氨酶慢性升高为特征。PSVD应包括在引起孤立性高转氨酶血症的疾病中。在组织学上，两组之间的差异是微妙的。没有PH的患者的中期结果是有利的；在患有PH的患者中观察到疾病的进展。
