Table 1. Cohort characterization.
Clinical diagnosis | % | cases | |
---|---|---|---|
ARPKD | 65 | 20 | |
ADPKD (VEO) | 19 | 6 | |
RCAD syndrome | 10 | 3 | |
NPHP | 3 | 1 | |
Bardet-Biedl syndrome | 3 | 1 | |
Age of disease manifestation | |||
Neonatal (prenatal) | 48 | 15 | |
Infantile | 26 | 8 | |
Childhood | 26 | 8 | |
Sex distribution | |||
Male | 58 | 18 | |
Female | 42 | 13 |
ADPKD (VEO), autosomal dominant polycystic kidney disease with very early onset; ARPKD, autosomal recessive polycystic kidney disease; NPHP, nephronophthisis; RCAD, renal cysts and diabetes syndrome.