Figure 4.
Kidney function in genetically affected individuals. The most recent estimated glomerular filtration rate (eGFR) (ml/min per 1.73 m2) versus age in individuals affected with the missense mutation p.R79W in ALG5. Solid triangles indicate genetically affected individuals. Hollow circles indicate genetically unaffected individuals; none of whom developed chronic kidney disease, except on individual F200-II.9 (individual with a history of multiple comorbidities, namely atrial fibrillation, osteoarthritis, recurrent cystitis, microscopic hematuria, and active tobacco use; please refer to the manuscript for details). Most affected individuals developed chronic kidney disease stage 3 (horizontal line) after the age of 50 years (vertical line). Five individuals of varying ages had reached end-stage kidney disease, as indicated by an eGFR value of 5 ml/min per 1.73 m2 (Y-axis).