The diagnosis of the remaining patient (patient 19) with renal dysfunction (serum creatinine, 122 μmol/L; evaluated glomerular filtration rate, 22.9 ml/min/1.73 m2), moderate anemia (70 g/L), short stature (height, 71 cm), and normal-sized, non-cystic kidneys combined with parenchymal hyperechogenicity and poor corticomedullary differentiation on renal ultrasonography (11 months of age) was classified by the compound heterozygous non-sense mutations present in the gene encoding the angiotensin-converting enzyme (ACE). The gene discussed is ACE; the disease is Renal cyst.