Diabetes mellitus neonatal permanente, variantedel gen KCNJ11: Reporte de caso
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2024
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Elsevier
Facultad de Ciencias de la Salud
Facultad de Ciencias de la Salud
Resumen
La diabetes mellitus neonatal es una enfermedad hereditaria monogénica en el 80-90% de los casos. Se presenta de dos formas: una transitoria, por lo general en la primera semana de vida, caracterizada por la asociación de hiperglicemia y restricción del crecimiento intrau-terino; y una permanente, que cursa con hiperglicemia severa y cetoacidosis, manifestándose antes de los seis meses de vida. Las formas clínicas dependen de la variación genética, la cuales identificada a través de la secuenciación del exoma completo. El tratamiento se basa en la corrección de la hiperglucemia con insulina, así como el manejo con sulfonilureas a dosis altas, considerándose un tratamiento exitoso, seguro y efectivo para pacientes con diabetes neonatal permanente. Se presenta el caso de un lactante de un mes y 26 días de vida, quien cursa con un cuadro de cetoacidosis diabética, encontrándose en delicadas condiciones generales, al que se le instauró manejo con insulinoterapia con adecuada respuesta de alteraciones metabólicas y neurológicas; se confirmó mutación del gen KCNJ11, que sugiere diabetes mellitus neonatal permanente. En la actualidad el paciente se encuentra en tratamiento con glibenclamida, no presenta deterioro del neurodesarrollo y su crecimiento es satisfactorio. Concluimos que todo paciente menor de seis meses con diagnóstico de diabetes mellitus, independientemente de las manifestaciones clínicas, debe ser estudiado con pruebas genéticas o estudios moleculares con el fin de identificar mutaciones asociadas que determinarán la gravedad de la enfermedad y, por consiguiente, realizar un diagnóstico temprano, tratamiento oportuno y evitar complicaciones o secuelas a largo plazo.
Neonatal diabetes mellitus is a monogenic hereditary disease in 80-90% of cases. Itpresents in two forms: a transient one, generally in the first week of life, characterized bythe association of hyperglycemia and intrauterine growth restriction; and a permanent onethat presents with severe hyperglycemia and ketoacidosis that manifests before 6 months oflife. Clinical forms depend on genetic variation, which is identified by whole exome sequen-cing. The right treatment is based on the correction of hyperglycemia with insulin, as wellas management with high doses of sulfonylureas. This case shows an infant, 1 month and26 days old, who presents with diabetic ketoacidosis intially in delicate general condition; whowas treated with insulin therapy with an adequate response to the metabolic and neurologi-cal alterations; KCNJ11 gene mutation was confirmed, suggesting permanent neonatal diabetesmellitus. Currently the patient is being treated with glibenclamide, there is no deterioration inneurodevelopment and his growth is satisfactory. We conclude that all patients under 6 monthsof age with a diagnosis of diabetes mellitus, regardless of the clinical manifestations, shouldbe studied with genetic or molecular tests to identify associated mutations that will determinethe severity of the disease and therefore allow to make an early diagnosis, timely treatmentand avoiding long-term complications.
Neonatal diabetes mellitus is a monogenic hereditary disease in 80-90% of cases. Itpresents in two forms: a transient one, generally in the first week of life, characterized bythe association of hyperglycemia and intrauterine growth restriction; and a permanent onethat presents with severe hyperglycemia and ketoacidosis that manifests before 6 months oflife. Clinical forms depend on genetic variation, which is identified by whole exome sequen-cing. The right treatment is based on the correction of hyperglycemia with insulin, as wellas management with high doses of sulfonylureas. This case shows an infant, 1 month and26 days old, who presents with diabetic ketoacidosis intially in delicate general condition; whowas treated with insulin therapy with an adequate response to the metabolic and neurologi-cal alterations; KCNJ11 gene mutation was confirmed, suggesting permanent neonatal diabetesmellitus. Currently the patient is being treated with glibenclamide, there is no deterioration inneurodevelopment and his growth is satisfactory. We conclude that all patients under 6 monthsof age with a diagnosis of diabetes mellitus, regardless of the clinical manifestations, shouldbe studied with genetic or molecular tests to identify associated mutations that will determinethe severity of the disease and therefore allow to make an early diagnosis, timely treatmentand avoiding long-term complications.
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Diabetes neonatal, Hiperglicemia, Gen KCNJ11, Insulina, Sulfonilurea, Neonatal Diabetes, Hyperglycemia, KCNJ11 gene, Insulin, Sulfonylurea
Citación
A.M. Mendoza Caballero, C.A. Gallón Arango, R.L. Sánchez Consuegra et al., Diabetes mellitus neonatal permanente, variante del gen KCNJ11: Reporte de caso, Acta Colombiana de Cuidado Intensivo, https://doi.org/10.1016/j.acci.2024.03.001