Kahler S G, Sherwood W G, Woolf D, Lawless S T, Zaritsky A, Bonham J, Taylor C J, Clarke J T, Durie P, Leonard J V
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
J Pediatr. 1994 Feb;124(2):239-43. doi: 10.1016/s0022-3476(94)70311-6.
The discovery of pancreatitis in two children with methylmalonic acidemia led us to review the experience with pancreatitis in a large number of patients with organic acidemias to determine whether pancreatitis is an important complication of these disorders.
Case series.
Pediatric metabolism services at five tertiary care centers.
Records of all patients with organic acidemias followed at the five institutions during the past 10 years were reviewed. Pancreatitis was recognized by symptoms and laboratory findings and confirmed by imaging studies, surgery, or autopsy. At three institutions all cases of pancreatitis in children younger than 10 years were reviewed.
Nine children with pancreatitis (seven with acute and two with chronic cases) were identified among 108 children with branched-chain organic acidemias. They ranged in age from 13 months to 9 years. Five had methylmalonic acidemia, three had isovaleric acidemia, and one had maple syrup urine disease. There were three deaths; acute hemorrhagic pancreatitis occurred in two children, and chronic pancreatitis was found at autopsy in a third. All three patients with isovaleric acidemia and pancreatitis were identified after the occurrence of pancreatitis. The survey of pancreatitis at three institutions found 57 other patients (none with an inborn error) in addition to three patients with inborn errors included in this study.
Acute or chronic pancreatitis may complicate branched-chain organic acidemias and must be considered in the assessment of patients with these disorders who have acute clinical deterioration and vomiting, abdominal pain, encephalopathy or shock, or milder symptoms. Conversely, an inborn error of organic acid metabolism should be considered in children with pancreatitis of unknown origin.
两名患有甲基丙二酸血症的儿童被诊断出胰腺炎，这促使我们回顾大量有机酸血症患者的胰腺炎发病情况，以确定胰腺炎是否为这些疾病的重要并发症。
病例系列研究。
五家三级医疗中心的儿科代谢门诊。
回顾了过去10年在这五家机构接受治疗的所有有机酸血症患者的记录。胰腺炎通过症状和实验室检查结果得以确诊，并经影像学检查、手术或尸检证实。在三家机构，对10岁以下儿童的所有胰腺炎病例进行了回顾。
在108例支链有机酸血症患儿中，共发现9例胰腺炎患儿（7例急性胰腺炎，2例慢性胰腺炎）。年龄范围为13个月至9岁。其中5例患有甲基丙二酸血症，3例患有异戊酸血症，1例患有枫糖尿症。有3例死亡；2例儿童发生急性出血性胰腺炎，第3例在尸检时发现慢性胰腺炎。所有3例患有异戊酸血症并伴有胰腺炎的患儿均在胰腺炎发病后才得以确诊。对三家机构的胰腺炎调查发现，除本研究纳入的3例患有先天性代谢缺陷的患者外，还有57例其他患者（均无先天性代谢缺陷）。
急性或慢性胰腺炎可能是支链有机酸血症的并发症，对于出现急性临床恶化、呕吐、腹痛、脑病或休克，或症状较轻的此类疾病患者，评估时必须考虑到这一点。相反，对于病因不明的胰腺炎患儿，应考虑存在有机酸代谢先天性缺陷的可能性。
