No abstract

Four patients with the clinical diagnosis of nephronophthisis are presented, all having a very poor renal uptake of 99mtechnetium-dimercaptosuccinic acid (99mTc-DMSA) but clearly visualized kidneys on early images with 99mtechnetium-mercaptoacetyltriglycine and a normal or almost normal renogram. There was no difference between a young patient in an early stage of the disease and the other three patients with more advanced renal disease. In contrast, a patient with tubulointerstitial nephritis with uveitis had considerably better renal uptake of 99mTc-DMSA despite impaired renal function. We suggest that the specific tubular function defect in nephronophthisis might be the cause of the poor uptake of 99mTc-DMSA. We also recommend the method to support the clinical suspicion of nephronophthisis, even in the early stages of the disease.