A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

International Journal of Pediatric Endocrinology

Khalid Hussain²  Anabela Morais¹  Carla Pereira⁴  Maha Sherif³  Lieve GJ Leijssen³  Sophia Tahir³ 

[1] Hematology Unit, Department of Paediatrics, Hospital de Santa Maria – CHLN, Lisbon, Portugal;Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, United Kingdom;Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK;Endocrinology Unit, Department of Paediatrics, Hospital de Santa Maria – CHLN, Lisbon, Portugal

关键词: SLC19A2 mutation;    Megaloblastic anaemia;    Sensorineural deafness;    Diabetes mellitus;    TRMA;   

Others  :  1210480
DOI  :  10.1186/s13633-015-0002-6

 received in 2014-11-13, accepted in 2015-01-19,  发布年份 2015

【 摘 要 】

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient’s diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement. The report further indicates that TRMA is not only limited to consanguineous or ethnically isolated families, and should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms.

【 授权许可】

   
2015 Tahir et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

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