Assuntos
Astrocitoma/complicações , Neoplasias Encefálicas/complicações , Proteína 2 do Complexo Esclerose Tuberosa/genética , Esclerose Tuberosa/genética , Adolescente , Criança , Humanos , Masculino , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Deleção de Sequência , Esclerose Tuberosa/complicaçõesRESUMO
El gen TSC2, responsable de la esclerosis tuberosa, se encuentra en el cromosoma 16p13.3, adyacente al gen de la poliquistosis renal autosómica dominante PKD1. Una deleción de gran tamaño puede afectar a ambos genes produciendo el llamado «síndrome de deleción de genes contiguos TSC2/PKD1» (MIM#600273). Se caracteriza por la presencia de quistes renales congénitos o de aparición muy precoz, en pacientes con esclerosis tuberosa, e implica un peor pronóstico de la enfermedad renal. Presentamos el caso de un niño de 6 años con esclerosis tuberosa, que en el período neonatal presentaba múltiples quistes renales de gran tamaño y bilaterales, realizándose posteriormente un estudio de confirmación genética mediante la técnica MLPA (AU)
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique (AU)
Assuntos
Humanos , Masculino , Criança , Síndrome da Deleção 22q11/epidemiologia , Síndrome da Deleção 22q11/genética , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Cistos/complicações , Cistos/diagnóstico , Cistos/genética , Esclerose Tuberosa/fisiopatologia , Abdome/patologia , Abdome , Hipertensão/complicações , Angiofibroma/complicações , Angiofibroma/diagnósticoRESUMO
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
