ABSTRACT
INTRODUCCIÓN: Las anomalías congénitas de los riñones y las vías urinarias (CAKUT, Congenital Anomalies of the Kidney and Urinary Tract) representan un 20-30% de las anomalías detectadas en el periodo prenatal. Si bien la mayoría son de buen pronóstico, un 25% se asocian a enfermedad renal crónica en la infancia y en los casos graves a mortalidad perinatal. OBJETIVO: Describir los casos ingresados al Centro de Referencia Perinatal Oriente (CERPO) y determinar los resultados perinatales y la sobrevida al año. MÉTODO: Estudio descriptivo y retrospectivo. Se incluyeron pacientes ingresadas en la base de datos CERPO, entre los años 2003 y 2019, con diagnóstico de anomalía nefrourológica. Se incluyeron antecedentes prenatales, perinatales y de seguimiento posnatal al año. RESULTADOS: Se evaluaron 273 pacientes. La edad gestacional promedio de derivación fue de 29 semanas + 2 días. El diagnóstico más frecuente fueron las anomalías del tracto de salida (69%). Un 40% de los casos se asociaron a otras anomalías congénitas, siendo las cardiopatías las más frecuentes (19%). Aceptaron la realización de estudio genético invasivo 38 pacientes, de las cuales un 34% presentaron aneuploidías, siendo las trisomías 18 y 13 las más frecuentes (17% y 6%, respectivamente). Se instalaron cinco shunts derivativos vesicoamnióticos en fetos diagnosticados con megavejiga. La sobrevida global para la patología nefrourológica fue del 63% al año, y la mortalidad fetal y neonatal fue del 7% y el 16%, respectivamente. La sobrevida al año según el grupo de clasificación CAKUT fue del 22% para las anomalías de número de riñones, del 46% para las anomalías de tamaño y de morfología renal, del 60% para las anomalías de la posición renal y del 72% para las anomalías del tracto de salida. En este último grupo, la sobrevida alcanza el 81% al excluir los pacientes con diagnóstico prenatal de megavejiga, que presentaron una sobrevida al año del 28%. Los casos de patología nefrourológica asociada a oligohidramnios (índice de líquido amniótico < 5 cm) sin evidencias de uropatía obstructiva asociada presentaron una sobrevida al año del 3%. CONCLUSIONES: Las anomalías del sistema nefrourológico son un diagnóstico prenatal frecuente. La sobrevida al año fue del 63%, pero es necesario prolongar el seguimiento a largo plazo para determinar la evolución de la función renal en cada diagnóstico. La asociación de patología nefrourológica y oligohidramnios conlleva una sobrevida menor.
INTRODUCTION: Congenital anomalies of the kidneys and urinary tract (CAKUT) represent 20 to 30% of the anomalies detected prenatally. Although most are of good prognosis, 25% are associated with chronic kidney disease in childhood and severe cases with perinatal mortality. OBJECTIVE: To describe the cases studied in the Eastern Perinatal Referral Center (CERPO) and to determine the perinatal outcome and survival at one year. METHOD: Descriptive and retrospective study. Patients registered on the CERPO database, between 2003 to 2019, with diagnosis of nephrourological anomaly were included. Antenatal, perinatal and postnatal follow-up information was collected. RESULTS: 273 patients were evaluated. The average gestational age at referral was 29 + 2 weeks. The main diagnosis was urinary tract outlet disorders (69%). Thirty nine percent of the cases were associated with other congenital anomalies, with heart disease being the most frequent (19%). Thirty-eight patients accepted an invasive procedure for genetic study, 34% presented aneuploidy, trisomy 18 and 13 were the most frequent (17% and 6% respectively). Five vesico-amniotic derivative shunts were installed in fetuses diagnosed with megabladder. Overall survival at one year was 63% and fetal and neonatal mortality were 7% and 16% respectively. One-year survival per group according to CAKUT classification was 22% in kidney number abnormalities, 46% in kidney size and morphology abnormalities, 60% in renal position abnormalities and 72% in outflow tract abnormalities. In the latter, survival reaches 81% excluding the patients with prenatal diagnosis of megabladder who had a one-year survival of 28%. The cases of nephrourological pathology associated with oligohydramnios (amniotic fluid index < 5 cm) without evidence of associated obstructive uropathy presented a survival of 3% at one year. CONCLUSIONS: The anomalies of the nephrourological system correspond to a frequent prenatal diagnosis. Overall, the one-year survival was 63%; however, follow-up must continue to determine the evolution of renal function in relation to each diagnosis.
Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis , Urogenital Abnormalities/diagnosis , Kidney/abnormalities , Prognosis , Urogenital Abnormalities/classification , Urologic Diseases/diagnosis , Chile , Retrospective Studies , Chromosome Aberrations , Kidney Diseases/diagnosisABSTRACT
A proposta deste estudo foi revisar os fatores genéticos e as anomalias cromossômicas passíveis de condicionarem anormalidades no aparelho genital feminino.
The aim of this study was to review the genetic factors and chromosomal abnormalities that can create Mullerian malformations in females' genital tract.
Subject(s)
Humans , Female , Congenital Abnormalities/classification , Congenital Abnormalities/genetics , Urogenital Abnormalities/classification , Urogenital Abnormalities/genetics , Chromosome Aberrations , Mullerian Ducts/abnormalities , Genetics, Medical , Genitalia, Female/abnormalities , Uterus/abnormalities , Vagina/abnormalitiesABSTRACT
The aim of this paper was to discuss the embryological aspects of Müllerian duct anomalies and to analyze the current diagnostic methods and therapy. Müllerian anomalies are congenital defects of the female reproductive tract resulting from failure in the development of the Müllerian ducts and their associated structures. Their cause has yet to be fully clarified, and it is currently believed to be multifactorial. Symptoms appear principally during adolescence or early adulthood, and affect the reproductive capacity of these women. When clinically suspected, investigations leading to diagnosis include imaging methods such as hysterosalpingography, ultrasonography and magnetic resonance. The classification of these malformations relates to their embryogenesis, and defines the therapy and prognosis. Müllerian anomalies consist of a wide range of defects that may vary from patient to patient. Therefore, their management must also be individual, taking anatomical and clinical characteristics into consideration, as well as the patient's wishes.
O objetivo deste trabalho foi discutir as malformações müllerianas desde seus aspectos embriológicos, analisando os atuais métodos diagnóstico e terapêuticos. As malformações müllerianas são anomalias congênitas do trato reprodutivo feminino decorrentes de falha do desenvolvimento dos ductos de Müller e estruturas associadas. Sua causa não foi completamente elucidada, acreditando-se, atualmente, que seja multifatorial. Os sintomas se manifestam, principalmente, durante a adolescência e início da vida adulta, e afetam a capacidade reprodutiva dessas mulheres. A partir da suspeita clínica, a investigação diagnóstica inclui métodos de imagem, como a histerosalpingografia, ultrassonografia e ressonância magnética. A classificação das malformações está relacionada à sua embriogênese e direciona a terapêutica e prognóstico. As malformações müllerianas são um grupo amplo de anomalias que variam de paciente para paciente. Portanto, sua abordagem também é individual, devendo-se considerar os aspectos anatômicos, clínicos e o desejo da paciente.