A Case Report of MODY3 Combined with Intestinal Neuroendocrine Tumor.
Chin Med Sci J
; 37(2): 167-170, 2022 Jun 30.
Article
em En
| MEDLINE
| ID: mdl-35796342
ABSTRACT
Maturity-onset diabetes of the young 3 (MODY3) is an autosomal dominant monogenic diabetes mellitus characterized by defective ß-cell function and non-insulin-dependent early-onset diabetes mellitus. The facts that patients with MODY3 are often misdiagnosed as type 1 and type 2 diabetes mellitus and genetic diagnosis is expensive, make its diagnosis very challenging. In this study, we reported a case of MODY3, which was verified to be caused by a mutation in hepatocyte nuclear factor 1α gene (c.598C>T, p.Arg200Trp). In addition, the patient had a neuroendocrine tumor simultaneously, and a KMT2D gene mutation (c.5587C>G, p.Pro1863Ala) might be associated with this leson.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Tumores Neuroendócrinos
/
Diabetes Mellitus Tipo 2
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Neoplasias Intestinais
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Chin Med Sci J
Assunto da revista:
TERAPIAS COMPLEMENTARES
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China