Embriología y genética del reflujo vesicoureteral primario y de la displasia renal asociada

Martínez, Antonio Morales; Medina, Rocío Calvo; Peláez, Mercedes Chaffanel; Fernández, Alberto Bueno; Lago, C. Miguélez; Olmo, Emilia del Castillo Acedo del

doi:10.4321/s0004-06142008000200002

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“…Syndromic VUR has an inherited Mendelian trasmission [3]. Several congenital syndromes associated with VUR as Renal coloboma o Brachio-otorenal syndrome were know [2].…”

Section: Introductionmentioning

confidence: 99%

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

et al. 2013

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BackgroundVesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities. We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33).Case reportThe patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary disease. Chromosomal analysis and Array-CGH revealed two heterozygous chromosomal rearrangements: 1p terminal duplication and de novo 18q terminal deletion. She referred to our clinic to evaluation of bilateral hydronephrosis and right renal cortex thinning. Voiding cystourethrography demonstrated bilateral grade IV VUR and dimercaptosuccinic acid renal scintigraphy confirmed right renal cortex thinning and showed a cortical uptake of 75% of the left kidney and 25% of the right kidney. The patient underwent ureterovesical reimplantation after failure of 3 endoscopic submeatal Deflux injections with VUR resolution.ConclusionsThis is the first report involving a patient with 18q-syndrome and contemporary presence of 1p chromosomal terminal duplication. The coexistence of two chromosomal rearrangements complicates the clinical picture and creates a chimeric disorder (marked by characteristics of both chromosomal anomalies). Kidney problems, primarily VUR is reported in 15% of patients affected by 18-q syndrome and no cases is reported in the literature regarding a correlation between VUR and 1p36 chromosomal duplication.

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“…Syndromic VUR has an inherited Mendelian trasmission [3]. Several congenital syndromes associated with VUR as Renal coloboma o Brachio-otorenal syndrome were know [2].…”

Section: Introductionmentioning

confidence: 99%