一名儿童出现严重持续性、不间断性皮炎、慢性腹泻及低白蛋白血症；乳糜泻背景下的哈丁普病。
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease.
作者信息
Ciecierega Thomas, Dweikat Imad, Awar Mohammad, Shahrour Maher, Libdeh Bassam Abu, Sultan Mutaz
机构信息
New York Presbyterian, Weill Cornell Medical College, New York, USA.
An-Najah National University, P.O. BOX 7, Nablus, West Bank, Palestine.
出版信息
BMC Pediatr. 2014 Dec 20;14:311. doi: 10.1186/s12887-014-0311-6.
BACKGROUND
Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption. Hartnup disease is an autosomal recessive disorder caused by increased urinary excretion of neutral amino acids. Co-occurrence of Hartnup disease and CD is extremely rare with only a single case reported.
CASE PRESENTATION
We report a 3-year girl with chronic diarrhea, Hypoalbuminemia and exfoliative erythema. She was diagnosed with celiac disease, which did not improve on gluten free diet. Hartnup disease was suspected and was confirmed by neutral aminoaciduria. Niacin was started and followed by dramatic improvement.
CONCLUSION
Presence of Celiac and Hartnup disease in single individual is very rare. Complete nutritional assessment of refractory celiac patient can reveal underlying nutritional deficiency.
背景
乳糜泻（CD）是一种复杂的自身免疫性疾病，可导致炎症性小肠绒毛萎缩和吸收不良。哈特纳普病是一种常染色体隐性疾病，由中性氨基酸尿排泄增加引起。哈特纳普病与乳糜泻同时发生极为罕见，仅有一例报告。
病例报告
我们报告一名3岁女孩，有慢性腹泻、低白蛋白血症和剥脱性红斑。她被诊断为乳糜泻，无麸质饮食后病情未改善。怀疑患有哈特纳普病，并通过中性氨基酸尿得到证实。开始使用烟酸治疗后病情显著改善。
结论
单个个体同时存在乳糜泻和哈特纳普病非常罕见。对难治性乳糜泻患者进行全面的营养评估可发现潜在的营养缺乏。
Zotero 插件