Ectasia piélica antenatal: signo guía para el diagnóstico familiar de una enfermedad genética / Antenatal hydronephrosis: key sign for the diagnostic of a familial genetic disease

No disponible

Agenesia renal unilateral. Nuevos argumentos acerca de la relación genética entre la urolitiasis y las malformaciones renales / Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis

ANTECEDENTES: En escasos trabajos previos, se ha comunicado que puede observarse la presencia de hipercalciuria en pacientes portadores de algunos tipos de CAKUT como estenosis pieloureteral, reflujo vesicoureteral o quistes renales simples. Además, se ha descrito una prevalencia mayor de hipercalciuria y/o urolitiasis en los miembros de las familias de esos niños con algunos tipos de CAKUT, en comparación con la población en general. El presente estudio se llevó a cabo para averiguar si los niños con agenesia renal unilateral (ARU) tienen las características descritas anteriormente en otros tipos de CAKUT. MÉTODOS: En un estudio descriptivo y multicéntrico se determinó la prevalencia de hipercalciuria, hipocitraturia y urolitiasis en 67 niños (43 hombres y 24 mujeres) con ARU y sus familias. RESULTADOS: En 26 niños (38,8%) se observaron las dos anomalías metabólicas que favorecen la formación de cálculos renales distribuidos de la siguiente manera: hipercalciuria en 16, hipocitraturia en 9 y tanto hipercalciuria como hipocitraturia en 1. Ocho niños (11,9%) padecieron un cólico renal durante el tiempo total de seguimiento. Una historia familiar de litiasis urinaria se encontró en 42/67 de los niños (62,7%): en familiares de primer grado en 12 de ellos, en familiares de segundo grado en 15 y en ambos grados de familiares en los otros 15. En contraste, en el grupo de control histórico, solamente en 28,1% de las familias, al menos, un miembro había tenido urolitiasis. CONCLUSIÓN: Nuestros resultados muestran que la prevalencia de la hipercalciuria y/o hipocitraturia en pacientes pediátricos con ARU es mayor que en la población general. Asimismo, la prevalencia de urolitiasis en las familias de estos niños es también mayor que en la población general

BACKGROUND: In few previous studies, it has been reported that hypercalciuria is associated with some types of congenital anomalies of the kidney and urinary tract (CAKUT), namely ureteropelvic junction obstruction, vesicoureteral reflux or simple renal cysts. In addition, one higher prevalence of hypercalciuria and/or urolithiasis has been described in their family members compared to the general population. This study was carried out to find out whether children with unilateral renal agenesis (URA) have these features previously described in other CAKUT types. METHODS: In a descriptive and multicenter study we studied the prevalence of hypercalciuria, hypocitraturia and urolithiasis in 67 children (43 males and 24 females) with URA and their families. RESULTS: The two metabolic anomalies that promote stone formation were observed in 26 children (38.8%), distributed as follows: hypercalciuria in 16, hypocitraturia in 9, and both hypercalciuria and hypocitraturia in 1. Eight children (11.9%) suffered renal colic during follow-up. Familial history of urolithiasis was found in 42/67 children (62.7%): in 12 of the first-degree relatives, in 15 of the second degree relatives and in 15 patients both in the first-degree as in their second degree relatives. In contrast, in historic control group, only in 28.1% of families at least one member had urolithiasis. CONCLUSION: Our results show that the prevalence of hypercalciuria and/or hypocitraturia is greater in pediatric patients with URA than in the general population. Likewise, the prevalence of urolithiasis in the families of these children is also higher than that in the general population

[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis]. / Agenesia renal unilateral. Nuevos argumentos acerca de la relación genética entre la urolitiasis y las malformaciones renales.

BACKGROUND: In few previous works, it has been reported that hypercalciuria is associated with some types of CAKUT, namely ureteropelvic junction obstruction, vesicoureteral reflux or simple renal cysts. In addition, one higher prevalence of hypercalciuria and/or urolithiasis has been described in their family members compared to the general population. This study was carried out to find out whether children with unilateral renal agenesis (URA) have these features previously described in other CAKUT types. METHODS: In a descriptive and multicenter study we studied the prevalence of hypercalciuria, hypocitraturia and urolithiasis in 67 children (43 males and 24 females) with URA and their families. RESULTS: The two metabolic anomalies that promote stone formation were observed in 26 children (38.8%), distributed as follows: hypercalciuria in 16, hypocitraturia in 9, and both hypercalciuria and hypocitraturia in 1. Eight children (11.9%) suffered renal colic during follow-up. Familial history of urolithiasis was found in 42/67 children (62.7%): in 12 of the first-degree relatives, in 15 of the second degree relatives and in 15 patients both in the first-degree as in their second degree relatives. In contrast, in historic control group, only in 28.1% of families at least one member had urolithiasis. CONCLUSION: Our results show that the prevalence of hypercalciuria and/or hypocitraturia is greater in pediatric patients with URA than in the general population. Likewise, the prevalence of urolithiasis in the families of these children is also higher than that in the general population.