Abstract
Determine evolution of renal function in nephronophthisis patient cohort, prognosis and variability of clinical presentation.
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.
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%).
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.
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