Fig. 1
From: Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Clinical findings and pedigree in severely affected family P1. A Pedigree of family P1. B Estimated glomerular filtration rate (eGFR) in all brothers over a 15 years’ timeline. Note that eGFR declines over age in all brothers. C–E Discordant kidney sonograms. C Increased echogenicity, nephrocalcinosis, and reduced cortico-medullary differentiation. D Increased echogenicity, nephrocalcinosis, and multiple large cysts. E Mildly increased echogenicity. F Histologic slide of kidney biopsy showing unspecific focal segmental glomerulosclerosis in P1.1. G–I Destructive gouty arthritis and multiple gout tophi in P1.1