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05.11.2018, 19:12
Dr.Vad
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Никогда не слышал о таком заболевании, думаю, другим педиатрам тоже будет интересно: thiamine-responsive megaloblastic anaemia (TRMA) syndrome или синдром Роджерса - ассоциация мегалобластной анемии с диабетом и прогрессирующей глухотой:
We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire.
We identified 24 different mutations, of which nine are novel. The onset of the first TRMA symptom ranged from birth to 4 years (median 6 months [interquartile range, IQR 3-24]) and median age at diabetes onset was 10 months (IQR 5-27). At presentation, three individuals had isolated diabetes and 12 had asymptomatic hyperglycaemia. Follow-up data was available for 15 individuals treated with thiamine for a median 4.7 years (IQR 3-10). Four patients were able to stop insulin and seven achieved better glycaemic control on lower insulin doses. These 11 patients were significantly younger at diabetes diagnosis (p = 0.042), at genetic testing (p = 0.01) and when starting thiamine (p = 0.007) compared with the rest of the cohort. All patients treated with thiamine became transfusion-independent and adolescents achieved normal puberty. There were no additional benefits of thiamine doses >150 mg/day and no reported side effects up to 300 mg/day.
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Diabetologia. 2018 May;61(5):1027-1036.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM и соавт.
В полном тексте о заболевании здесь:
Thiamine-Responsive Megaloblastic Anemia Syndrome
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luidhen
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Dr.Vad
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