Fig. 2.

Pedigree of the patient’s family. Blue arrow indicates proband. The enzyme activities of the proband, his mother, his aunt, and his grandfather are shown below their locations in the pedigree. Some of the proband’s relatives died suddenly of an unknown cause between 30 and 40 years of age, while another relative died of end-stage renal disease between 50 and 60 years of age. Abbreviation: ESKD, end-stage kidney disease