Abstract |
Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form of monogenic diabetes should be suspected. Thiamine-responsive megaloblastic anaemia (TRMA) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and deafness. In the paper, we discuss clinical features and treatment of TRMA syndrome - a unique syndromic form of vitamin-dependent monogenic diabetes. The review might be useful in establishing a prompt diagnosis and initiating optimal management in children and adolescents with the disease.
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Authors | Agnieszka Zmysłowska, Wojciech Młynarski |
Journal | Pediatric endocrinology, diabetes, and metabolism
(Pediatr Endocrinol Diabetes Metab)
Vol. 18
Issue 1
Pg. 37-9
( 2012)
ISSN: 2081-237X [Print] Poland |
PMID | 22525690
(Publication Type: Journal Article, Review)
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Topics |
- Adolescent
- Anemia, Megaloblastic
(diagnosis, therapy)
- Child
- Diabetes Mellitus, Type 1
(diagnosis, therapy)
- Early Diagnosis
- Hearing Loss, Sensorineural
(diagnosis, therapy)
- Humans
- Infant
- Infant, Newborn
- Syndrome
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