Neonatal diabetes mellitus due to a novel variant in the INS gene.
Cold Spring Harb Mol Case Stud
; 5(4)2019 08.
Article
en En
| MEDLINE
| ID: mdl-31196892
ABSTRACT
Neonatal diabetes mellitus (NDM) is a rare condition that presents with diabetes in the first few months of life. The treatment of NDM may differ depending on the genetic etiology, with numerous studies showing the benefit of sulfonylurea therapy in cases caused by mutations in KCNJ11 or ABCC8 Mutations in the insulin gene (INS) have also been identified as causes of NDM; these cases are generally best treated with insulin alone. We report a case of a female infant born small for gestational age (SGA) at late preterm diagnosed with NDM at 7 wk of life who was found by rapid whole-genome sequencing to harbor a novel de novo c.26C>G (p.Pro9Arg) variant in the INS gene. She presented with diabetic ketoacidosis, which responded to insulin therapy. She did not respond to empiric trial of sulfonylurea therapy early in her hospital course, and it was discontinued once a genetic diagnosis was made. Early genetic evaluation in patients presenting with NDM is essential to optimize therapeutic decision-making.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diabetes Mellitus
/
Enfermedades del Recién Nacido
/
Insulina
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos