Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report.
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.
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, These authors equally contributed to this work.
Anna
A
Hogendorf
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, These authors equally contributed to this work.
Iwona
I
Pietrzak
Department of Clinical Genetics, Medical University of Lodz, Lodz.
Karolina
K
Antosik
Department of Clinical Genetics, Medical University of Lodz, Lodz.
Maciej
M
Borowiec
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz.
Wojciech
W
Młynarski
D000293:Adolescent; D000474:Alkaptonuria / Q000209:etiology* / Q000628:therapy; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D006801:Humans; D017098:IgA Deficiency / Q000209:etiology*; D008297:Male; D013967:Thyroiditis, Autoimmune / Q000209:etiology* / Q000628:therapy; D016896:Treatment Outcome; D014820:Vitiligo / Q000209:etiology* / Q000628:therapy
alkaptonuria; autoimmune thyroidits; immunoglobulin A deficiency; type 1 diabetes; vitiligo