Persistent proteinuria is an important indicator of kidney damage and requires active evaluation and intervention. However, tubular proteinuria of genetic origin typically does not improve with immunosuppression or antiproteinuric treatment. Recently, defects in CUBN were found to cause isolated proteinuria (mainly albuminuria) due to defective tubular albumin reuptake. Unlike most other genetically caused persistent albuminuria, CUBN C-terminal variants have a benign course without progression to chronic kidney disease according to the literature. Here, we present Korean cases with persistent proteinuria associated with C-terminal variants of CUBN. Methods: We identified Korean patients with CUBN variants among those with an identified genetic cause of proteinuria and evaluated their clinical features and clinical course. We also reviewed the literature on CUBN-associated isolated proteinuria published to date and compared it with Korean patients. Results: All patients presented with incidentally found, asymptomatic isolated proteinuria at a median age of 5 years. The proteinuria was in the subnephrotic range and did not significantly change over time, regardless of renin- angiotensin system inhibition. Initial physical examination, laboratory findings, and kidney biopsy results, when available, were unremarkable other than significant proteinuria. All patients maintained kidney function throughout the follow-up duration. All patients had at least one splicing mutation, and most of the variants were located C-terminal side of the gene. Conclusion: We report Korean experience of CUBN-related benign proteinuria, that aligns with previous reports, indicating that this condition should be considered in cases with incidentally found asymptomatic isolated proteinuria, especially in young children.

Hematuria is a relatively common condition among school-aged children. Because international guidelines for asymptomatic hematuria in children are unavailable, developing practical guidelines for the diagnosis and management of asymptomatic hematuria based on scientific evidence while considering real-world practice settings, values, and patient and physician preferences is essential. The Korean Society of Pediatric Nephrology developed clinical guidelines to address key questions regarding the diagnosis and management of asymptomatic hematuria in children.

Persistent proteinuria is an important indicator of kidney damage and requires active evaluation and intervention. However, tubular proteinuria of genetic origin typically does not improve with immunosuppression or antiproteinuric treatment. Recently, defects in CUBN were found to cause isolated proteinuria (mainly albuminuria) due to defective tubular albumin reuptake. Unlike most other genetically caused persistent albuminuria, CUBN C-terminal variants have a benign course without progression to chronic kidney disease according to the literature. Here, we present Korean cases with persistent proteinuria associated with C-terminal variants of CUBN. Methods: We identified Korean patients with CUBN variants among those with an identified genetic cause of proteinuria and evaluated their clinical features and clinical course. We also reviewed the literature on CUBN-associated isolated proteinuria published to date and compared it with Korean patients. Results: All patients presented with incidentally found, asymptomatic isolated proteinuria at a median age of 5 years. The proteinuria was in the subnephrotic range and did not significantly change over time, regardless of renin- angiotensin system inhibition. Initial physical examination, laboratory findings, and kidney biopsy results, when available, were unremarkable other than significant proteinuria. All patients maintained kidney function throughout the follow-up duration. All patients had at least one splicing mutation, and most of the variants were located C-terminal side of the gene. Conclusion: We report Korean experience of CUBN-related benign proteinuria, that aligns with previous reports, indicating that this condition should be considered in cases with incidentally found asymptomatic isolated proteinuria, especially in young children.

Hematuria is a relatively common condition among school-aged children. Because international guidelines for asymptomatic hematuria in children are unavailable, developing practical guidelines for the diagnosis and management of asymptomatic hematuria based on scientific evidence while considering real-world practice settings, values, and patient and physician preferences is essential. The Korean Society of Pediatric Nephrology developed clinical guidelines to address key questions regarding the diagnosis and management of asymptomatic hematuria in children.

X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing and residual skeletal deformity as well as at risk of endocrine abnormalities and adverse drug reactions. However, understanding the pathophysiology has led to the development of a targeted therapy, burosumab, a fibroblast growth factor-23 inhibitor that was recently approved in Korea for the treatment of XLH. This review provides insight into the diagnosis, evaluation, treatment, and recommended follow-up for a typical case of XLH and reviews its pathophysiology.

X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing and residual skeletal deformity as well as at risk of endocrine abnormalities and adverse drug reactions. However, understanding the pathophysiology has led to the development of a targeted therapy, burosumab, a fibroblast growth factor-23 inhibitor that was recently approved in Korea for the treatment of XLH. This review provides insight into the diagnosis, evaluation, treatment, and recommended follow-up for a typical case of XLH and reviews its pathophysiology.

X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing and residual skeletal deformity as well as at risk of endocrine abnormalities and adverse drug reactions. However, understanding the pathophysiology has led to the development of a targeted therapy, burosumab, a fibroblast growth factor-23 inhibitor that was recently approved in Korea for the treatment of XLH. This review provides insight into the diagnosis, evaluation, treatment, and recommended follow-up for a typical case of XLH and reviews its pathophysiology.

X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing and residual skeletal deformity as well as at risk of endocrine abnormalities and adverse drug reactions. However, understanding the pathophysiology has led to the development of a targeted therapy, burosumab, a fibroblast growth factor-23 inhibitor that was recently approved in Korea for the treatment of XLH. This review provides insight into the diagnosis, evaluation, treatment, and recommended follow-up for a typical case of XLH and reviews its pathophysiology.

OBJECTIVES: In this study, we sought to evaluate the association between smoking status and subclinical coronary atherosclerosis, as detected by coronary computed tomography angiography (CCTA), in asymptomatic individuals. METHODS: We retrospectively analyzed 9,285 asymptomatic participants (mean age, 53.7±8.0 years; n=6,017, 64.8% male) with no history of coronary artery disease (CAD) who had undergone self-referred CCTA. Of these participants, 4,333 (46.7%) were considered never smokers, 2,885 (31.1%) former smokers, and 2,067 (22.3%) current smokers. We assessed the degree and characteristics of subclinical coronary atherosclerosis using CCTA, with obstructive CAD defined as a diameter stenosis of at least 50%. RESULTS: Compared with never-smokers, former smokers exhibited no significant differences in the probabilities of obstructive CAD, any coronary plaque, calcified plaque, or mixed plaque, as determined using adjusted odds ratios (aORs; p>0.05 for all). However, the risk of non-calcified plaque was significantly higher in former smokers (aOR, 1.34; 95% confidence interval [CI], 1.00 to 1.78; p=0.048). Current smokers had significantly higher rates of obstructive CAD (aOR, 1.46; 95% CI, 1.10 to 1.96; p=0.010), any coronary plaque (aOR, 1.41; 95% CI, 1.20 to 1.65; p<0.001), calcified plaque (aOR, 1.32; 95% CI, 1.13 to 1.55; p=0.001), non-calcified plaque (aOR, 1.72; 95% CI, 1.28 to 2.32; p<0.001), and mixed plaque (aOR, 2.00; 95% CI, 1.39 to 2.86; p<0.001) compared to never smokers. CONCLUSIONS This cross-sectional study revealed a significant association between current smoking and subclinical coronary atherosclerosis, as detected on CCTA. Additionally, former smoking demonstrated an association with non-calcified plaque, indicating elevated cardiovascular risk.