Van Wouwe J P
Department of Paediatrics, State University, Leiden, The Netherlands.
Eur J Pediatr. 1989 Oct;149(1):2-8. doi: 10.1007/BF02024322.
Acrodermatitis enteropathica is an inborn error of metabolism resulting in zinc malabsorption and severe zinc deficiency. From personal experience and a literature review the following conclusions were drawn: 1. Symptoms other than dermatitis, vary with age. Diarrhoea, mood changes, anorexia, and neurological disturbance were reported most frequently in infancy. Growth retardation, alopecia, weight loss and recurrent infections were prevalent in toddlers and schoolchildren. Spontaneous remission may occur at adolescence. 2. The severity of symptoms also varies. Intermittent or mild cases of the disease and those presenting with uncommon features such as ophthalmic, cerebral or hepatic involvement, are easily overlooked. In the severe cases this may result in a fatal outcome. If untreated, the overall mortality rate is 20%, being higher in males. 3. The laboratory diagnosis is hazardous. In patients, mean zinc values in serum, urine and hair were ca. 50% of normal levels. There is a 15% overlap with healthy controls; moreover, low zinc levels in serum, urine or hair are also found in other diseases. A more specific test is required. 4. In cases of doubt, in vitro or in vivo zinc absorption tests using radioisotopes (65Zn or 69mZn) may be performed. These appear not to be influenced by other conditions and show less overlap with controls. If such tests are unavailable, the clinical response to 3-30 mumol zinc/kg per day for 5 days may be awaited. This is recommended in infants or children with one or more symptoms of acrodermatitis enteropathica.
肠病性肢端皮炎是一种先天性代谢紊乱疾病，可导致锌吸收不良和严重锌缺乏。根据个人经验和文献综述得出以下结论：1. 除皮炎外的症状随年龄而异。腹泻、情绪变化、厌食和神经功能障碍在婴儿期最为常见。生长发育迟缓、脱发、体重减轻和反复感染在幼儿和学龄儿童中很普遍。青春期可能会自发缓解。2. 症状的严重程度也有所不同。间歇性或轻度病例以及表现出罕见特征（如眼部、脑部或肝脏受累）的病例很容易被忽视。在严重病例中，这可能导致致命后果。如果不治疗，总体死亡率为20%，男性更高。3. 实验室诊断存在风险。患者血清、尿液和头发中的平均锌值约为正常水平的50%。与健康对照组有15%的重叠；此外，在其他疾病中也发现血清、尿液或头发中的锌水平较低。需要更具特异性的检测方法。4. 在存在疑问的情况下，可以进行使用放射性同位素（65Zn或69mZn）的体外或体内锌吸收试验。这些试验似乎不受其他条件的影响，与对照组的重叠较少。如果无法进行此类试验，可以等待对每天3 - 30 μmol锌/千克进行5天治疗的临床反应。这对于有一项或多项肠病性肢端皮炎症状的婴儿或儿童是推荐的。
