Concomitant diseases were observed in some patients: thyroid disease occurred in the genotype groups CRB1 (n = 2) and RDH12 (n = 3), pyelonephritis was seen in a patient with AIPL1 disease-associated variants, and renal transplantation due to renal failure was necessary for one patient with IQCB1 variants. The gene discussed is IQCB1; the disease is acute kidney injury.