Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis

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• 作者：Victor Garcia Nieto^a ; ^{vgarcianieto@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Beatriz Huertes Dí ; az^b ; Joaquin Escribano Subias^c ; Maria Teresa Alarcó ; n Alacio^d ; Juan David Gonzalez Rodrí ; guez^e ; José ; Eugenio Cabrera Sevilla^e ; Carolina Peralta Aros^f ; Maria Isabel Luis Yanes^a
• 关键词：Hypercalciuria ; Hypocitraturia ; Urolithiasis ; Inheritance ; Unilateral renal agenesis
• 刊名：Anales de Pediatría (English Edition)
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：85
• 期：5
• 页码：240-246
• 全文大小：585 K

文摘

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.