Hogendorf A, Pietrzak I, Antosik K, Borowiec M, Młynarski W. Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report. Pediatric Endocrinology Diabetes and Metabolism. 2016;22(2).
APA
Hogendorf, A., Pietrzak, I., Antosik, K., Borowiec, M., & Młynarski, W. (2016). Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report. Pediatric Endocrinology Diabetes and Metabolism, 22(2).
Chicago
Hogendorf, Anna, Iwona Pietrzak, Karolina Antosik, Maciej Borowiec, and Wojciech Młynarski. 2016. "Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report". Pediatric Endocrinology Diabetes and Metabolism 22 (2).
Harvard
Hogendorf, A., Pietrzak, I., Antosik, K., Borowiec, M., and Młynarski, W. (2016). Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report. Pediatric Endocrinology Diabetes and Metabolism, 22(2).
MLA
Hogendorf, Anna et al. "Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report." Pediatric Endocrinology Diabetes and Metabolism, vol. 22, no. 2, 2016.
Vancouver
Hogendorf A, Pietrzak I, Antosik K, Borowiec M, Młynarski W. Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report. Pediatric Endocrinology Diabetes and Metabolism. 2016;22(2).
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.
Keywords
type 1 diabetes, alkaptonuria, autoimmune thyroidits, vitiligo, immunoglobulin A deficiency
