Elkhateeb Nour, Chakrapani Anupam, Davison James, Grunewald Stephanie, Batzios Spyros
Department of Paediatric Metabolic Medicine Great Ormond Street Hospital NHS Trust London UK.
JIMD Rep. 2020 Oct 19;57(1):15-22. doi: 10.1002/jmd2.12175. eCollection 2021 Jan.
Multiple acyl-CoA dehydrogenase (MADD) deficiency represents a rare fatty acid oxidation disorder where sporadic reports of pancreatitis already exist. Here, we report three cases of MADD with pancreatic involvement raising questions whether this represents an incidental finding or it is related to the pathophysiology of MADD.
We have retrospectively studied the clinical, biochemical and radiologic data of patients with MADD diagnosed in our department over the last 20 years to identify patients with pancreatic involvement.
Three out of 17 patients had pancreatic involvement. All three patients were diagnosed with MADD in the neonatal period (two-third symptomatic-riboflavin nonresponsive, one-third asymptomatic via newborn screening-riboflavin responsive). Age at presentation of pancreatitis ranged from 20 months to 11 years. Presentations included a single episode of acute pancreatitis in the first patient, chronic necrotizing pancreatitis in the second patient, while the third patient was diagnosed with chronic pancreatitis (CP) incidentally through ultrasonography. All patients had inflammation features on either abdominal computed tomography or ultrasound. Pancreatic enzymes were elevated in two patients. Management of pancreatitis was done conservatively while the patient with necrotic CP required subtotal pancreatectomy.
Our data suggest that pancreatitis might be more common in patients with MADD than previously reported, requiring a high index of suspicion in patients with acute metabolic decompensation or nonspecific abdominal symptoms. We hypothesize that the underlying mechanism of pancreatitis in MADD is similar to that in mitochondrial disorders, both resulting from disordered energy metabolism and oxidative phosphorylation.
多种酰基辅酶A脱氢酶（MADD）缺乏症是一种罕见的脂肪酸氧化障碍疾病，此前已有关于胰腺炎的零星报道。在此，我们报告3例伴有胰腺受累的MADD病例，引发了关于这是偶然发现还是与MADD的病理生理学相关的疑问。
我们回顾性研究了过去20年在我科诊断为MADD的患者的临床、生化和放射学数据，以确定有胰腺受累的患者。
17例患者中有3例出现胰腺受累。所有3例患者均在新生儿期被诊断为MADD（三分之二有症状——对核黄素无反应，三分之一无症状——通过新生儿筛查对核黄素反应）。胰腺炎发病年龄为20个月至11岁。表现包括第一例患者出现单次急性胰腺炎，第二例患者为慢性坏死性胰腺炎，而第三例患者通过超声意外诊断为慢性胰腺炎（CP）。所有患者在腹部计算机断层扫描或超声检查中均有炎症表现。2例患者的胰腺酶升高。胰腺炎采用保守治疗，而坏死性CP患者需要进行胰腺次全切除术。
我们的数据表明，MADD患者中胰腺炎可能比先前报道的更为常见，对于急性代谢失代偿或非特异性腹部症状的患者需要高度怀疑。我们推测，MADD中胰腺炎的潜在机制与线粒体疾病中的相似，均由能量代谢紊乱和氧化磷酸化导致。
