Fig. 8.

a–f Sonographic appearance of patients of different ages with nephronophthisis (NPHP). All patients show a typical NPHP pattern with normal or small-sized kidneys, enhanced echogenicity of the renal cortex, and reduced cortico-medullary differentiation (progressive with renal failure); cysts (e.g., patient in c) are usually a late sign and occur secondarily after patients have progressed to end-stage renal disease and are typically located at the cortico-medullary junction. a, b 10-year-old boy with homozygous NPHP1 deletion, serum creatinine of 3 mg/dl, glomerular filtration rate of 20 ml/min and mild arterial hypertension. c, d 10- and 15-year-old patients with progressed clinical course. e 14-year-old boy with Senior–Loken syndrome carrying a homozygous deletion of the NPHP1 gene. Peritoneal dialysis was started recently. f 2-day-old male patient with sonographic evidence of NPHP, polyuria, and systemic hypertension