Malformaciones urinarias del recién nacido: estudio ECLAMC 1998-2010 / Urinary malformations among newborns: ECLAMC registry, 1998-2010

Introduction: Congenital abnormalities of the Urinary Tract are frequent and prevalence has increased since the introduction of routine prenatal sonogram. Objectives: To determine the prevalence rate of congenital urinary malformations at birth at Hospital Clínico de la Universidad de Chile. These data will be compared to other Chilean hospitals participating in ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas - Latin American Collaborative Study of Congenital Malformations). A longitudinal study will serve to evaluate if significant variation has occurred, and risk factors will be investigated. Patients and Methods: All births occurring between January, 1998 and December, 2010 were included. Prevalence rate of urinary malformations were calculated, and compared to those obtained in previous years. Statistical analysis of proportions was calculated through mean and average comparison was made through Student t test. Results: Urinary anomalies appeared at a rate of 64.5 per 10.000 births. This represents a significant increase from previous studies. Highest risk factor seemed to be "other family members with disease". Most frequent anomaly was Hydroureteronphrosis (24,2 percent) followed by Hypospadias (17 percent). The rate of these malformations in ECLAMC participating Chilean hospitales was 23.37/10.000 births. Conclusion: A significant increase in the diagnosis of these anomalies was shown, being the most important risk factor the presence of family members with similar congenital disorders.

Introducción: Las anomalías congénitas del Aparato Urinario son frecuentes y ha aumentado su prevalencia al nacimiento con la introducción rutinaria del estudio prenatal por ultrasonografía. Objetivos: Determinar la Tasa de prevalencia al nacimiento de las malformaciones urinarias en el Hospital Clínico de la Universidad de Chile. Compararlas con las del resto de los hospitales chilenos que participan en el ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas). Estudiarlas a lo largo del tiempo para ver si han tenido variaciones significativas. Investigar factores de riesgo que pueden influir en la aparición de ellas. Pacientes y Método: Se estudió todos los nacimientos ocurridos entre Enero de 1998 y Diciembre de 2010 en el Hospital Clínico de la Universidad de Chile. Se calculó las tasas de prevalencia al nacimiento de las malformaciones urinarias y se las comparó con las obtenidas en períodos anteriores. El análisis estadístico de comparación de proporciones se realizó mediante la prueba de c² y las comparaciones entre promedios se hicieron mediante prueba t de Student. Resultados: La tasa de Anomalías urinarias fue 64,5 por 10 000 nacimientos. Ellas aumentaron significativamente al compararlas con los períodos estudiados anteriormente. El factor de riesgo más influyente fue "otros malformados en la familia". La anomalía más frecuente fue Hidroureteronefrosis (24,2 por ciento) seguida por Hipospadias (17 por ciento). La tasa de estas malformaciones en los hospitales chilenos participantes del ECLAMC fue 23,37/10 000 nacimientos. Conclusión: Se demuestra un incremento significativo del diagnóstico de estas anomalías, siendo el factor de riesgo más importante el antecedente de otros malformados en la familia.

Meckel-Gruber syndrome.

Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects.

Malformaciones del aparato urinario en recién nacidos de la maternidad Hospital Clínico de la Universidad de Chile / Urinary tract malformations in the department of obstetrics of the Universidad de Chile clinical hospital, in the period 1982-1997

Background: The prevalence of urinary malformations at birth is steadily increasing, probably due to the availability of better diagnostic techniques Aim: To assess the prevalence of renal agenesis, hidroureteronephrosis and polycystic kidney at birth in the obstetric wards of the University of Chile Clinical Hospital. Patients and methods: As a part of the Latin American Collaborative Study of Congenital Malformations, 54.039 consecutive births at the Maternity, between January 1982 and December 1997, were studied. Results: Eighty three newborns had urinary tract malformations (15.3/10000). Fourteen (2.6/10000) had renal agenesis, 34 (6.3/10000) had hidroureteronephrosis and 35 (6.5/10000) had polycystic kidney. Eleven percent of these children were stillbirths and 35 percent died in the first days of life. Fifty six percent were male, 34 percent female and 10 percent had ambiguous sex. Mean birth weight was 2750 g, mean gestational age was 35.4 weeks and mean maternal age was 28 years old. Twenty three percent of mothers had a history of previous abortions, 8 percent had a history of stillbirths and 10 percent a history of metrorrhagia during the first trimester of pregnancy. Twenty five percent of children had a relative with a malformation and 48 children had other associated malformations such as pulmonary hypoplasia, external malformations caused by extreme oligoamnios or internal malformations such as utereral, urinary bladder, uretral or external genitalia agenesis. Conclusions: The prevalence of urinary malformations in this hospital was higher than in other hospitals participating in the collaborative study. This difference could be due to an under registration of malformations in other hospitals

Doença renal cística adquirida da uremia: estudo de prevalência / Acquired renal cystic disease from uremia: a prevalence survey

A doença renal cística adquirida da uremia (DRCA) é uma patologia que ocorre em pacientes com nefropatia avançada. Com o objetivo de avaliar a prevalência de DRCA estudamos, através de exame ultra-sonográfico, 94 pacientes urêmicos: 18 em fase pré-dialítica e 76 em tratamento com hemodiálisa. A prevalência encontrada nos pacientes em fase pré-dilítica foi de 16,7% e, nos em hemodiálise, de 39,5%. No grupo-controle, de 60 pacientes sem nefropatia, a prevalência de cistos múltiplos foi nula. Houve relaçäo direta entre aumento na prevalência de DRCA e o tempo de tratamento dialítico. Tipo de doença renal básica, sexo e idade näo tiveram influência na freqüência de DRCA