P1824RETROSPECTIVE STUDY FOR THE ANALYSIS AND EVOLUTION OF RENAL FUNCTION IN A COHORT OF PATIENTS AFFECTED BY THE NEPHRONOPHTHISIS COMPLEX

Abstract

Abstract Background and Aims Determine evolution of renal function in nephronophthisis patient cohort, prognosis and variability of clinical presentation. Method Retrospective observational study to determine evolution of renal function in our cohort(n=13) between 4.5-20 years affected by different syndromes associated with nephronophthisis complex in last 20 years. We compared clinical-analytical parameters to diagnosis with current ones, including needs for kidney transplantation and results of genetics. Results Chronic-Kidney-Disease (CKD) prevalence at diagnosis was between 0.9-8.5 years (mean 5.3 years), staging of CKD was: 30.7% stage 2, 15.38% stage 3a and 1 patient stage 3b. 23.07% in stages 4 and 5. 69.23% needs first kidney transplantation and even a second one 15.38%. The average age at first transplantation was 6.04 years(2-11.67 years). The mean age to enter in renal replacement therapy program was 1.3 years(0.1-3.67 years). Among non-transplant, from diagnosis to present its being 0.5-7.25 years(median, 4.24 years). Most frequent symptom at the onset of the disease was delay in weight gain and height(84.61%) and also in cognitive development(53.84%), followed by polyuria-polydipsia(46.15%) and other signs/symptoms such as ataxia, pigmentary retinitis, hepatic insufficiency or skeletal alterations. In fact, in up to 54% of cases, renal involvement was a casual finding. Even with this, the most frequent form of presentation was purely renal(38.46%), followed by Joubert's Syndrome(30.77%), RHYNS(15.38%), Senior-Loken(7.7%) and Maizner-Saldino(7.7%). Currently, calculated glomerular filtration rate ranges between30.2-90.21 ml/min/1.73 m2 among recipient, with majority in the CKD stages: 3a(56%) and in between 30-128 ml/min/1.73 m2 among non-transplant patients, with predominance CKD 2 (50%). Conclusion The prognosis of renal function in the short-medium term in nephronophthisis is unfortunate. The possible initial symptomatic renal silence, the need (>50%) of multidisciplinary management and the frequency of CKD advanced to the diagnosis make necessary the knowledge of the disease and its possible associations, as well as its active search.