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Updated: Feb 15, 2026

Direct Drug Delivery to Kidney via the Renal Artery
Published on: April 17, 2021
[Infrequent mutation in renal-coloboma syndrome: case report and review]
Ignacio Ruiz Del Olmo Izuzquiza1, Yolanda Romero Salas2, Ana Rodríguez Valle3
1Servicio de Pediatría, Hospital de Barbastro, Barbastro, Huesca, España. jiruizdelolmo@salud.aragon.es.
Abstract:
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy. Renal function remained stable. Genetic study showed de novo and non sense mutation p.R104X in heterocygosis. Currently there are 80 published cases of renal-coloboma syndrome associated with this gene mutations. Ophthalmologic and genetic evaluations are crucial in cases affected by renal hypodysplasia. Renal function will establish prognosis. We review the etiopathogenesis of this disease.
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