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ORIGINAL ARTICLE 2018 October 31
Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria
Purpose: Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional SLC5A2 mutations and examine their phenotypic and genetic...
CASE REPORT 2018 October 31
Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on ...
CASE REPORT 2018 October 31
Calcified Macroplastique Substance: A Rare Cause of Recurrent Gross Hematuria after Endoscopic Injection
Endoscopic subureteral injection for treatment of vesicoureteral reflux (VUR) is known to be safe and efficient due to its minimal invasive nature. Being non-migratory, non-antigenic, and biocompatible, Macroplastique (Polydimethylsiloxane) is likely to be stable over time. A 5-...
CASE REPORT 2018 October 31
Nutcracker Syndrome combined with Superior Mesenteric Artery Syndrome in a Pediatric Patient: A Case Report
Nutcracker syndrome is a phenomenon that the left renal vein (LRV) is pressed between the superior mesenteric artery (SMA) and the aorta. Clinical characteristics include gross or microscopic hematuria, orthostatic proteinuria, abdominal pain, and back pain. It occurs due to LRV...
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Volume 22(2); October 2018
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