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ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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2/2016
vol. 22
 
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abstract:
Case report

Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency – a case report

Anna Hogendorf
,
Iwona Pietrzak
,
Karolina Antosik
,
Maciej Borowiec
,
Wojciech Młynarski

Pediatr Endocrinol Diabetes Metab 2016;22,2:71-75
Online publish date: 2017/03/20
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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

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