Hogendorf Anna, Pietrzak Iwona, Antosik Karolina, Borowiec Maciej, Młynarski Wojciech
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, These authors equally contributed to this work.
Department of Clinical Genetics, Medical University of Lodz, Lodz.
Pediatr Endocrinol Diabetes Metab. 2016;22(2):71-75. doi: 10.18544/PEDM-22.02.0054.
We present a 15-year-old Caucasian boy with an exceptional coincidence of a rare monogenic metabolic disease - alkaptonuria (AKU) and a cluster of autoimmune disorders: type 1 diabetes (T1DM), autoimmune thyroiditis (AIT), vitiligo, insulin infusion induced lipoatrophy and immunoglobulin A deficiency (IgAD) Alkaptonuria and type 1 diabetes in a child, especially in such an interesting coincidence with other autoimmune conditions, has not been reported so far. Our investigation, including comprehensive genetic evaluation using next generation sequencing technology, shows that alkaptonuria and T1DM were independently inherited. We also show that alkaptonuria in its pre-ochronotic phase seems to have no effect on the course of diabetes.
我们报告一名15岁的白种男孩，他罕见地同时患有单基因代谢疾病——黑尿症（AKU）和一系列自身免疫性疾病：1型糖尿病（T1DM）、自身免疫性甲状腺炎（AIT）、白癜风、胰岛素输注引起的脂肪萎缩和免疫球蛋白A缺乏症（IgAD）。儿童期的黑尿症和1型糖尿病，尤其是与其他自身免疫性疾病如此有趣地同时出现，目前尚未见报道。我们的研究，包括使用下一代测序技术进行的全面基因评估，表明黑尿症和T1DM是独立遗传的。我们还表明，黑尿症在其褐黄病前期似乎对糖尿病病程没有影响。
