An adolescent case of renal-coloboma syndrome combined with developmental delay exhibiting novel PAX2 gene mutation

Abstract

 We described an adolescent with renal-coloboma syndrome (RCS) showing developmental delay. Birth and perinatal histories were unremarkable. At the age of 7 years, proteinuria was detected in an annual mass screening program at the patient's elementary school, and his urine had been checked periodically at local hospital. Because of the increase in proteinuria, he was referred to our hospital for further clinical evaluation. Proteinuria was moderate, ranging from 1.0 to 1.5 g/day, and was coupled with mild renal dysfunction (creatinine clearance, 77.4 ml/min/1.73m²). At this time he was found out to have myopia associated with astigmatism. He exhibited mild developmental delay assessed by WISC-III test. Renal biopsy specimen showed marked glomerular enlargement, collapse of glomerular capillaries, mesangial matrix expansion, and tubulointerstitial change, demonstrating typical histologic features of RCS. Optic nerve coloboma was also evident. Genetic analysis revealed novel mutation of exon 3 in Pax2 (P130H) gene in our patient.