Fig. 1.

Clinical course, pedigree and chromatograms. (A) Serum creatinine and urinary protein-creatinine ratio (UPCR) over time. Therapeutic interventions in response to creatinine/proteinuria rises are indicated as follows: ACE-I, angiotensin-converting enzyme inhibitor; Pred, prednisone; CYC, cyclophosphamide; MMF, mycophenolat-mofetil; MPS, plasma exchange (membrane plasma separator); FFP, fresh-frozen plasma; Ritux, rituximab; HD, haemodialysis. (B) Pedigree demonstrating a classical X-linked inheritance. Both the grandmother and the patient's mother are mutation carriers, as is the aunt of the index patient. The index patient (marked by red arrowhead) and his cousin are affected by the disease. (C) Exemplary chromatograms for the index patient and his parents demonstrating the confirmation of the whole-exome sequencing findings by Sanger sequencing.