Juvenile nephronophthisis: sonographic appearance in children with severe uremia.

Abstract

The authors reviewed the sonograms in 15 cases of juvenile nephronophthisis. Medullary cysts were demonstrated in 13 children with terminal uremia. The diagnostic value of ultrasound is stressed because in many cases relevant genetic and pathological data are not available.

Senior-Loken Syndrome (Nephronophthisis and Pigmentary Retinopathy) Associated to Liver Fibrosis: A Family Study

“…2) accompanying pathologic optical mic roscopic findings. Our cases support the idea that the sensitivity of echography in nephronophthisis is low [16], Retinal lesions are associated (Senior-Loken syn drome) in as much as 33% of the cases. The ocular component can appear as Leber congenital blindness, punctata albescens retinopathy or pigmentary retinopa thy [3,[5][6][7], In our first case the presence of pigmentary retinopathy suggested nephronophthisis.…”

Sonographic findings in familial juvenile nephronophthisis–medullary cystic disease complex

“…Concerning the presence of medullary cysts, there is a discrepancy between our findings and previous reports. Garel et al 3 found medullary cysts in all cases of JN-MCD. Other authors have reported that 30% of autopsy cases lack cysts, 6,7 and renal medullary cysts were present in only about 2 ⁄3 of patients with terminal uremia.…”

Nephronophthisis-Cystic Renal Medulla Complex: Diagnosis by Computerized Tomography

“…This is de bated, however, as the test is invasive, and is probably inappropriate as an initial procedure. Ultrasonography may be diagnostic [7], but it is well recognized that small cysts are frequently missed by this technique. We are unaware of previous reports in the literature on the role of computerized tomography in the diagnosis of this dis ease.…”