Panorámica de la poliquistosis renal autosómica dominante en una región del sur de España / Overview of autosomal dominant polycystic kidney disease in the south of Spain

Introducción: La poliquistosis renal autosómica dominante es la enfermedad renal hereditaria más frecuente aunque los datos disponibles generalmente son tras el inicio del tratamiento renal sustitutivo. Objetivo: Conocer la situación global de la poliquistosis renal autosómica dominante en el ámbito sanitario de Granada. Material y métodos: Desde enero 2007 hasta diciembre 2016 hemos recogido información clínica, familiar y demográfica de todos los pacientes con poliquistosis renal autosómica dominante, estuvieran o no en tratamiento renal sustitutivo, atendidos en el área de Granada. Se han utilizado los programas informáticos SPSS 15.0 y GenoPro. Resultados: Mil ciento siete pacientes diagnosticados, el 50,6% son varones. Se han estudiado 4-6 generaciones/familia. El 99,1% de raza caucásica. Hay áreas geográficas con mayor concentración. No hay antecedentes familiares en el 2,43%. La edad media de diagnóstico es de 34±17,8 años y en el 57,7% de los casos, el diagnóstico se produce después de tener descendencia. El principal motivo de diagnóstico son los antecedentes familiares (46,4%). La edad media de entrada en técnica es de 54,2±11,05 años. El 96,3% de los fallecidos tenían algún grado de insuficiencia renal en el momento del exitus. La edad media del exitus es de 60,9±14,10 años, siendo desconocida la principal causa de muerte (33,5%) seguida de la cardiovascular (27,8%). Conclusiones: Casos y familias se concentran en algunas áreas geográficas, un número importante de individuos están sin diagnosticar, fallecen antes por causa cardiovascular y se diagnostican tarde respecto al momento reproductivo. Dado que no hay tratamiento curativo, la estrategia de prevención primaria mediante el diagnóstico genético preimplantacional adquiere protagonismo (AU)

Introduction: Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy. Objective: To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain. Material and methods: From January 2007 to December 2016, we collected clinical, family and demographic information about all patients with autosomal dominant polycystic kidney disease, irrespective of whether or not they were treated with RRT, in the Granada health area. The computer software SPSS 15.0 and GenoPro were used. Results: 50.6% of the 1,107 diagnosed patients were men. 99.1% were Caucasian and 4-6 generations/family were studied. The geographical distribution was heterogeneous. There was no family history in 2.43%. The mean age of diagnosis was 34.0±17.80 years and the diagnosis was made after having offspring in 57.7% of cases. The main reason for diagnosis was family history (46.4%). The mean age of initiation of renal replacement therapy was 54.2±11.05 years. 96.3% of the deceased had some degree of renal failure at the time of death. The mean age of death was 60.9±14.10 years, the main cause of death being unknown in 33.5% of cases, followed by cardiovascular (27.8%). Conclusions: Cases and families were concentrated in certain geographical areas and a significant number of individuals were undiagnosed prior to cardiovascular death or diagnosed late after reproduction. Given that there is currently no curative treatment, the primary prevention strategy of preimplantation genetic diagnosis should play a leading role (AU)

Overview of autosomal dominant polycystic kidney disease in the south of Spain. / Panorámica de la poliquistosis renal autosómica dominante en una región del sur de España.

INTRODUCTION: Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy. OBJECTIVE: To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain. MATERIAL AND METHODS: From January 2007 to December 2016, we collected clinical, family and demographic information about all patients with autosomal dominant polycystic kidney disease, irrespective of whether or not they were treated with RRT, in the Granada health area. The computer software SPSS 15.0 and GenoPro were used. RESULTS: 50.6% of the 1,107 diagnosed patients were men. 99.1% were Caucasian and 4-6 generations/family were studied. The geographical distribution was heterogeneous. There was no family history in 2.43%. The mean age of diagnosis was 34.0±17.80 years and the diagnosis was made after having offspring in 57.7% of cases. The main reason for diagnosis was family history (46.4%). The mean age of initiation of renal replacement therapy was 54.2±11.05 years. 96.3% of the deceased had some degree of renal failure at the time of death. The mean age of death was 60.9±14.10 years, the main cause of death being unknown in 33.5% of cases, followed by cardiovascular (27.8%). CONCLUSIONS: Cases and families were concentrated in certain geographical areas and a significant number of individuals were undiagnosed prior to cardiovascular death or diagnosed late after reproduction. Given that there is currently no curative treatment, the primary prevention strategy of preimplantation genetic diagnosis should play a leading role.

Epidemiología del aborto de repetición / Epidemiology of recurrent miscarriage

Objetivo. Conocer las posibles causas de aborto de repetición en nuestro medio y la tasa de embarazo en estas parejas. Material y métodos. Estudio observacional retrospectivo de 172 mujeres que consultaron en nuestra Unidad durante los años 2002 a 2008 por dos o más abortos de repetición. Resultados. El 80,2% de las mujeres quedaron gestantes, 81,2% de ellos a término. El estudio de abortabilidad fue normal en el 70,9%. Las alteraciones halladas fueron: uterinas 48%, genéticas 2% y alteraciones de la coagulación 44%, apareciendo asociadas en el 6% de las pacientes. Conclusiones. La mayoría de las parejas que consultan por abortos de repetición se van a quedar sin un diagnóstico etiológico tras el estudio de abortabilidad. El pronóstico reproductivo empeora conforme aumenta el número de abortos a la consulta. Sin embargo hasta el 80,2% vuelven a quedar gestantes, llegando a tener un hijo sano en casa el 81,1% de las embarazadas (AU)

Objective. To determine the possible causes of recurrent miscarriage in our environment and the pregnancy rate in these couples. Material and methods. An observational retrospective study was carried out in 172 women who attended our unit for two or more recurrent miscarriages between 2002 and 2008. Results. A total of 80.2% of the women became pregnant. Of these, 81.2% carried the fetus to term. The results of clinical study were normal in 70.9%. The alterations found were uterine in 48%, genetic in 2% and coagulation alterations in 44%. These alterations were associated in 6% of the patients. Conclusions. Most of the couples consulting for recurrent miscarriage will not receive an etiologic diagnosis after clinical study. Reproductive prognosis worsens as the number of miscarriages increases. However, up to 80.2% of these women become pregnant again, of whom 81.1% will deliver a healthy neonate (AU)

Tratamiento conservador del cáncer de endometrio en una pareja estéril / Conservative treatment of endometrial cancer in an infertile couple

El tratamiento conservador del cáncer deendometrio (estadio I) es una opción terapéuticapara aquellas mujeres jóvenes que aún no hancumplido sus deseos genésicos. Aunque los datospublicados sobre los resultados de las técnicas dereproducción asistida (TRA) tras el manejoconservador del cáncer de endometrio son escasos,el pronóstico no parece empeorar con el uso deestas. A continuación, se describe el caso de unapaciente de 29 años, con esterilidad primaria,diagnosticada de cáncer de endometrio en estadioIA, tratada con altas dosis de progesterona oral, ytras el cual quedó embarazada mediante TRA (AU)

Successful conservative management for early-stagelow-grade endometrial cancer in young womenwishing to preserve fertility has been reported insmall series. Although few data are available on assisted reproductive technology (ART) outcomesafter conservative management of endometrialcarcinoma, ART does not seem to worsenprognosis. We report the case of a 29-year-oldwoman with a history of primary infertility, whowas diagnosed with a well-differentiatedendometrial adenocarcinoma (stage Ia), which wastreated with high doses of oral progesterone. Asuccessful pregnancy was achieved after ART (AU)

Inseminación artificial intrauterina en mujeres con síndrome de ovario poliquístico resistentes al citrato de clomifeno / Intrauterine insemination in women with polycystic ovary syndrome and clomiphene citrate resistance

Objetivo: Evaluar los resultados del tratamiento mediante inducción de la ovulación con gonadotropinas e inseminación artificial intrauterina (IAC-IU) realizados en mujeres con síndrome de ovario poliquístico (SOP) resistentes al citrato de clomifeno (CC). Material y métodos: Estudio observacional retrospectivo de 462 ciclos de inducción de la ovulación con IAC-IU en mujeres diagnosticadas de SOP resistentes al tratamiento con CC. Resultados. La tasa de embarazo clínico fue del 11,9% por ciclo iniciado y del 14,74% por inseminación, finalizando en aborto el 45,45% de los embarazos. El porcentaje acumulativo efectivo de embarazo a término por ciclo iniciado fue del 8% al primer ciclo y del 10,23% por inseminación, manteniéndose en el 26,15% a partir del quinto ciclo y en 32,24% a partir de la quinta inseminación. Se canceló el 19,26% de los ciclos. Conclusiones: La IAC-IU es un método útil en mujeres con SOP resistentes al CC, con resultados similares a los obtenidos con otras indicaciones. Estas pacientes presentan altas tasas de aborto del primer trimestre y de cancelación de ciclo. Esta elevada tasa de aborto debe dar lugar al desarrollo de una línea de investigación que logre encontrar la pauta que disminuya la pérdida reproductiva (AU)

Objective: To evaluate the results of ovulation induction cycles with gonadotropins and intrauterine insemination (IUI) carried out in women with polycystic ovary syndrome (POS) resistant to clomiphene citrate. Material and methods: We performed an observational retrospective study of 462 ovulation induction cycles with IUI in women with SOP and clomiphene citrate resistance. Results: The clinical pregnancy rate was 11.9% per cycle initiated and 14.74% per insemination and 45.45% of the pregnancies terminated in abortion. The effective accumulative percentage of term pregnancies per cycle initiated was 8% for the 82 first cycle and 10.23% for insemination, increasing to 26.15% from the fifth cycle and to 32.24% from the fifth insemination. A total of 19.26% of the cycles was cancelled. Conclusions: IUI is a useful method in women with SOP who are resistant to clomiphene citrate, with similar results to those obtained with other indications. These patients have high abortion and cycle cancellation rates. The high abortion rate should prompt research into ways of reducing reproductive loss (AU)