중남미

Chronic kidney disease (CKD) is increasingly being recognized as an important global public health problem [1]. 43% of children in the Pediatric Kidney Disease referral center in Guatemala have CKD of unknown etiology [2]. Recent studies have shown that high chronic kidney disease mortality rates in certain municipalities of Guatemala [3]. To date, there is no study that has evaluated the monogenic causes and geographic distribution of pediatric kidney failure in Guatemala. Therefore, here, we utilized clinical assessment and whole exome sequencing (WES) in children (< 18 years) who presented with advanced CKD of unknown etiology at a tertiary center in Guatemala.The study was approved by the institutional review board. CKD 5 of unknown etiology defined as patients who have eGFR < 15 ml/min/1.73m2 (modified Schwartz equation), who have proteinuria < 1 g/g, no evidence of obstructive uropathy, nephrolithiasis, kidney cysts, vesico-ureteral reflux, or glomerular disease. Retrospective chart review and WES performed [4, 5]. Fig. S1. Variants were evaluated for mutations in 478 known genes causing kidney disease (Table S1-7) and homozygyosity calculated [6].27 participants met criteria for study. 70% were males. 16 patients (59%) had small kidneys. Clinical and demographic data shown (Table S8-9). 70% were from non-pacific coast (Fig 1). The mean age of presentation is 10 years. Mean height is 123.5 cm (< 5th centile). Mean eGFR at presentation was 5.08 ml/min/1.73m2, and mean serum PTH was 986.34 pg/ml.