Abstract:
BACKGROUND:Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION:We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day). Hemoglobin level improved to 12.1 g/dl after dose of thiamine therapy increased up to 200 mg/day. CONCLUSION:Patients with TRMA must be evaluated for megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. They must be followed for response of hematologic and diabetic after thiamine therapy. It should be kept in mind that dose of thiamine therapy may be increased according to the clinical response. Genetic counseling should be given. ANTECENDENTES:El síndrome de anemia megaloblástica sensible a la tiamina (TRMA, por sus siglas en inglés), también conocido como síndrome de Rogers, se caracteriza por presentar anemia megaloblástica, hipoacusia neurosensorial y diabetes mellitus. Las alteraciones en el transporte de la tiamina hacia las células se deben a mutaciones homocigotas o heterocigotas compuestas en el gen SLC19A2. PRESENTACIÓN DE UN CASO:Presentamos el caso de una niña que manifestaba sordera neurosensorial tratada con una prótesis auditiva, diabetes con necesidad de insulina y anemia macrocítica, tratada con tiamina (100 mg/día). El nivel de hemoglobina mejoró hasta alcanzar 12,1 g/dl después de aumentar la dosis terapéutica de tiamina hasta 200 mg/día. Conclusión. Se debe evaluar a los pacientes con TRMA para detectar anemia megaloblástica, hipoacusia neurosensorial y diabetes mellitus. Se les debe dar seguimiento para determinar la respuesta de la enfermedad hematológica y de la diabetes después de la terapia con tiamina. La dosis terapéutica de tiamina puede aumentarse según la respuesta clínica. Debe proporcionarse asesoramiento genético.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Katipoğlu N,Karapinar TH,Demir K,Aydin Köker S,Nalbantoğlu Ö,Ay Y,Korkmaz HA,Oymak Y,Yıldız M,Tunç S,Hazan F,Vergin C,Ozkan Bdoi
10.5546/aap.2017.eng.e153subject
Has Abstractpub_date
2017-06-01 00:00:00pages
e153-e156issue
3eissn
0325-0075issn
1668-3501journal_volume
115pub_type
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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doi:10.5546/aap.2018.eng.e385
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.e255
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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doi:10.5546/aap.2018.eng.279
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752009000500006
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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journal_title:Archivos argentinos de pediatria
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更新日期:2015-08-01 00:00:00
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更新日期:2015-10-01 00:00:00
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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更新日期:2019-06-01 00:00:00
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journal_title:Archivos argentinos de pediatria
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doi:10.5546/aap.2019.eng.164
更新日期:2019-06-01 00:00:00
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
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更新日期:2015-04-01 00:00:00
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,多中心研究
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更新日期:2015-06-01 00:00:00
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journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
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