2007 Volume 20 Issue 1 Pages 42-47
Juvenile nephronophthisis combined with retinitis pigmentosa is known as renal-retinal dysplasia (Senior-Loken Syndrome). Recently several genes responsible for juvenile nephronophthisis have been identified. Juvenile nephronophthisis can be distinguished according to the onset-age of renal failure (infantile, juvenile and adolescent type) and causative genes.
We report here of a 3 year old girl who presented with anemia, poor physical activity, and visual impairment. Blood examination revealed that she had renal failure. She was diagnosed as Senior-Loken Syndrome by renal biopsy. It is difficult to screen this disease by the routine urinary examinations taken at the 3-Year-Old health check and also in the Elementary School Urinary Screening Program. An infant with visual impairment of unknown etiology should be undergo a urinary specific gravity and a β2-microglobulin test for early diagnosis of this disease.
