ESPN 54th Annual Meeting

ESPN 2022


 
Cystic kidney disease in Alport syndrome: one nephrology center data
MARINA AKSENOVA 1 NATALIA KONKOVA 1 MARINA DOBRYNINA 1 OLGA CHUMAK 1

1- Y.VELTISCHEV RESEARCH AND CLINICAL INSTITUTE FOR PEDIATRICS, N.PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY, MOSCOW, RUSSIA
 
Introduction:

It is suggested that renal cysts may be an additional incompletely penetrant consequence of a COL4A3/A4/A5 genes mutations.The aim of the study was to determine the incidence of renal in our cohort of children with Alport syndrome (AS).

Material and methods:

Demographic, genetic, laboratory (proteinuria (Pr, mg/m2/day), eGFR (ml/min/1.73m2), total kidney volume (TKV, cm3/m2)) data from 177 children (109M) with AS were analyzed. AS was diagnosed only on the basis of a family history and clinical presentation in 8 (q=0.05), confirmed morphologically in 32 (q=0.18) and by NGS-based genetic tests in 137 pts (q=0.77) including COL4A3/A4/A5 panel in 77 (56%), panel of hereditary renal diseases (HRDP) in 45 (33%) and WES in 15 (11%) pts.

Results:

Renal cysts were revealed in 24 (q=0.14) children (XLAS in 23, 15M): 17 pts (q=0.1) had several (≤3) small and 7 pts (q=0.04) had bilateral small (except 1 case) multiple cysts. In 12 pts WES and HRDP did not reveal genetic variants associated with cystic kidney diseases (7 pts had COL4A3/A4/A5 genetic panel). One male with large polycystic kidneys and positive family history in absence of PKD-related genetic variants was excluded from subsequent analysis. In contrast to children without and with several renal cysts, patients with multiple bilateral cysts had lower eGFR (98±20 vs 89±29 vs 45±23 ml/min/1.73m2, p1,3=0.02, p2,3=0.03) and higher Pr (73[20;405] vs 250[88;867] vs 1800[460;2400] mg/m2/day, p1,2=0.04, p1,3=0.003, p2,3=0.005). There was no significant difference in age (11±4.8 vs 14.3±2.5 vs 12.8±3.6) and TKV (196±37 vs 230±57 vs 183±92 cm3/m2) between the groups. 

Conclusions:

We found renal cysts in 14% including polycystic kidneys in 4% of pts with AS. Polycystic kidney disease in AS is associated with high Pr and GFR decreasing and may reflect the AS-nephropathy progression.