Alport syndrome, a rare genetic disorder affecting around 1 in 50,000 individuals, primarily presents as microscopic hematuria and chronic kidney disease (CKD) with associated extrarenal complications. The Alport syndrome results from mutations in COL4A3, COL4A4, and COL4A5 genes, disrupting the formation of the α3–α4–α5 chain in the collagen IV network. The etiology involves X chromosome- related, autosomal dominant, autosomal recessive, and digenic inheritance patterns. The disease primarily manifests as kidney involvement, featuring persistent hematuria, proteinuria, and a progressive decline in renal function. Hearing loss, ocular abnormalities, and extrarenal manifestations further contribute to its complexity. Genotype-phenotype correlations are relatively evident, with distinct presentations in X-linked, autosomal recessive, and autosomal dominant cases. Diagnosis relies on urinalysis, histologic examination, and genetic testing with advancements in next-generation sequencing aiding identification. Although no specific treatment exists, early diagnosis improves outcomes, emphasizing the importance of genetic testing for prognosis and familial screening. The purpose of this review is to advance knowledge and enhance understanding of Alport syndrome.

Alport syndrome (AS) is a highly prevalent inherited kidney disease. Early diagnosis and intervention are crucial for improved kidney outcomes. This study evaluated awareness among Korean clinicians about AS and assessed the understanding of AS patients and caregivers. Methods: An online survey targeting registered members of the Korean Society of Nephrology, the Korean Society of Pediatric Nephrology, AS patients, and their caregivers was conducted from January to April 2023. Results: Out of 103 respondents, most had treated fewer than 10 AS patients. For certain kidney diseases, such as chronic kidney disease of unknown origin and focal segmental glomerulosclerosis, half or fewer considered AS as a potential diagnosis. Only half preferred immediate confirmation tests for suspected AS. Genetic testing was available at half of the medical centers, and fewer than half of the adult nephrologists considered genetic testing to be essential. While all the surveyed nephrologists would prescribe renin-angiotensin system blockade, the majority hesitated to initiate treatment. Vigilant genetic testing for donor candidates was not a common practice. While 80% of patients and 50% of caregivers understood the nature and prognosis of AS, they regretted the delayed diagnoses, insufficient explanations, and the absence of support groups. Conclusion: Not rarely, AS patients may have been unrecognized as AS. Despite the noteworthy advancement of AS, the recent guidelines have not been widely adopted in clinical practice in Korea. Considering the challenges in Korea, there is an urgent need for locally tailored clinical practice recommendations and a dedicated registry to optimize patient outcomes.

Background/Aims: Proton pump inhibitors (PPIs) play a crucial role in managing laryngopharyngeal reflux (LPR), but the optimal dosing regimen remains unclear. We aim to compare the effectiveness of the same total PPI dose administered twice daily versus once daily in LPR patients. Methods: We conducted a prospective randomized controlled trial at a tertiary referral hospital, enrolling a total of 132 patients aged 19 to 79 with LPR. These patients were randomly assigned to receive either a 10 mg twice daily (BID) or a 20 mg once daily (QD) dose of ilaprazole for 12 weeks. The Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) were assessed at 8 weeks and 16 weeks. The primary endpoint was the RSI response, defined as a reduction of 50% or more in the total RSI score from baseline. We also analyzed the efficacy of the dosing regimens and the impact of dosing and duration on treatment outcomes. Results: The BID group did not display a higher response rate for RSI than the QD group. The changes in total RSI scores at the 8-week and 16-week visits showed no significant differences between the 2 groups. Total RFS alterations were also comparable between both groups.Each dosing regimen demonstrated significant decreases in RSI and RFS. Conclusions Both BID and QD PPI dosing regimens improved subjective symptom scores and objective laryngoscopic findings. There was no significant difference in RSI improvement between the 2 dosing regimens, indicating that either dosing regimen could be considered a viable treatment option.

Background: To evaluate whether insulin resistance and impaired insulin secretion are useful predictors of incident diabetes in Koreans using nationwide population-representative data to enhance data privacy. Methods: This study analyzed the data of individuals without diabetes aged >40 years from the Korea National Health and Nutrition Examination Survey (KNHANES) 2007–2010 and 2015 and the National Health Insurance Service-National Health Screening Cohort (NHIS-HEALS). Owing to privacy concerns, these databases cannot be linked using direct identifiers. Therefore, we generated 10 synthetic datasets, followed by statistical matching with the NHIS-HEALS. Homeostasis model assessment of insulin resistance (HOMA-IR) and homeostasis model assessment of β-cell function (HOMA-β) were used as indicators of insulin resistance and insulin secretory function, respectively, and diabetes onset was captured in NHIS-HEALS. Results: A median of 4,580 (range, 4,463 to 4,761) adults were included in the analyses after statistical matching of 10 synthetic KNHANES and NHIS-HEALS datasets. During a mean follow-up duration of 5.8 years, a median of 4.7% (range, 4.3% to 5.0%) of the participants developed diabetes. Compared to the reference low–HOMA-IR/high–HOMA-β group, the high–HOMA-IR/low– HOMA-β group had the highest risk of diabetes, followed by high–HOMA-IR/high–HOMA-β group and low–HOMA-IR/low– HOMA-β group (median adjusted hazard ratio [ranges]: 3.36 [1.86 to 6.05], 1.81 [1.01 to 3.22], and 1.68 [0.93 to 3.04], respectively). Conclusion Insulin resistance and impaired insulin secretion are robust predictors of diabetes in the Korean population. A retrospective cohort constructed by combining cross-sectional synthetic and longitudinal claims-based cohort data through statistical matching may be a reliable resource for studying the natural history of diabetes.

This study aimed to evaluate the differences in the baseline characteristics and patterns of antibiotic usage among hospitals based on their participation in the Korea National Antimicrobial Use Analysis System (KONAS). We obtained claims data from the National Health Insurance for inpatients admitted to all secondary- and tertiary-care hospitals between January 2020 and December 2021 in Korea. 15.9% (58/395) of hospitals were KONAS participants, among which the proportion of hospitals with > 900 beds (31.0% vs.2.6%, P < 0.001) and tertiary care (50.0% vs. 5.2%, P < 0.001) was higher than that among non-participants. The consumption of antibiotics targeting antimicrobial-resistant gram positive bacteria (33.7 vs. 27.1 days of therapy [DOT]/1,000 patient-days, P = 0.019) and antibiotics predominantly used for resistant gram-negative bacteria (4.8 vs. 3.7 DOT/1,000 patient-days, P = 0.034) was higher in KONAS-participating versus -non-participating hospitals. The current KONAS data do not fully represent all secondary- and tertiary-care hospitals in Korea; thus, the KONAS results should be interpreted with caution.

Purpose: This study aimed to evaluate the effect of prophylactic abdominal drainage (AD) in laparoscopic hemicolectomy, focusing on assessing postoperative pain outcomes. Methods: Patients were categorized into two groups: those with and without AD (AD group vs.no-AD group). A numerical rating scale (NRS) was used to assess postoperative pain on each postoperative day (POD). Further, the inverse probability of treatment weighting (IPTW) method was used to reduce intergroup bias. Results: In total, 204 patients who underwent laparoscopic hemicolectomies by a single surgeon between June 2013 and September 2022 at a single institution were retrospectively reviewed. After adjusting for IPTW, NRS scores on POD 2 were significantly lower in the no-AD group (3.2 ± 0.8 vs. 3.4 ± 0.8, p = 0.043). Further examination of postoperative outcomes showed no statistically significant differences in complications between the AD (17.3%) and no-AD (12.4%) groups (p = 0.170). The postoperative length of hospital stay was 7.3 ± 2.8 days in the AD group and 6.9 ± 3.0 days in the no-AD group, with no significant difference (p = 0.298). Time to first flatus was 3.0 ± 0.9 days in the AD group and 2.7 ± 0.9 days in the no-AD group, with no significant difference (p = 0.078). Regarding readmission within 1 month, there were four cases each in the AD (2.3%) and no-AD (1.7%) groups, with no significant difference (p = 0.733). Conclusion Laparoscopic hemicolectomy without AD resulted in no significant differences in postoperative clinical outcomes, except for postoperative pain. This finding suggests that prophylactic AD may exacerbate postoperative pain.

Background/Aims: Proton pump inhibitors (PPIs) play a crucial role in managing laryngopharyngeal reflux (LPR), but the optimal dosing regimen remains unclear. We aim to compare the effectiveness of the same total PPI dose administered twice daily versus once daily in LPR patients. Methods: We conducted a prospective randomized controlled trial at a tertiary referral hospital, enrolling a total of 132 patients aged 19 to 79 with LPR. These patients were randomly assigned to receive either a 10 mg twice daily (BID) or a 20 mg once daily (QD) dose of ilaprazole for 12 weeks. The Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) were assessed at 8 weeks and 16 weeks. The primary endpoint was the RSI response, defined as a reduction of 50% or more in the total RSI score from baseline. We also analyzed the efficacy of the dosing regimens and the impact of dosing and duration on treatment outcomes. Results: The BID group did not display a higher response rate for RSI than the QD group. The changes in total RSI scores at the 8-week and 16-week visits showed no significant differences between the 2 groups. Total RFS alterations were also comparable between both groups.Each dosing regimen demonstrated significant decreases in RSI and RFS. Conclusions Both BID and QD PPI dosing regimens improved subjective symptom scores and objective laryngoscopic findings. There was no significant difference in RSI improvement between the 2 dosing regimens, indicating that either dosing regimen could be considered a viable treatment option.

Background/Aims: Proton pump inhibitors (PPIs) play a crucial role in managing laryngopharyngeal reflux (LPR), but the optimal dosing regimen remains unclear. We aim to compare the effectiveness of the same total PPI dose administered twice daily versus once daily in LPR patients. Methods: We conducted a prospective randomized controlled trial at a tertiary referral hospital, enrolling a total of 132 patients aged 19 to 79 with LPR. These patients were randomly assigned to receive either a 10 mg twice daily (BID) or a 20 mg once daily (QD) dose of ilaprazole for 12 weeks. The Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) were assessed at 8 weeks and 16 weeks. The primary endpoint was the RSI response, defined as a reduction of 50% or more in the total RSI score from baseline. We also analyzed the efficacy of the dosing regimens and the impact of dosing and duration on treatment outcomes. Results: The BID group did not display a higher response rate for RSI than the QD group. The changes in total RSI scores at the 8-week and 16-week visits showed no significant differences between the 2 groups. Total RFS alterations were also comparable between both groups.Each dosing regimen demonstrated significant decreases in RSI and RFS. Conclusions Both BID and QD PPI dosing regimens improved subjective symptom scores and objective laryngoscopic findings. There was no significant difference in RSI improvement between the 2 dosing regimens, indicating that either dosing regimen could be considered a viable treatment option.

Background/Aims: Helicobacter pylori (HP) infection is positively associated with metabolic syndrome (MS). However, the long-term effects of eradication therapy on MS and sex differences have not been thoroughly studied. We aimed to investigate the long-term effects of HP eradication on MS and sex differences. Methods: This study included 2,267 subjects who visited a tertiary referral center between May 2003 and May 2019. HP was diagnosed by histology, a Campylobacter-like organism test, and culture, and the subjects were prospectively followed up. The participants were categorized into three groups: HP uninfected, HP infected but non-eradicated, and HP eradicated. The baseline characteristics and changes in metabolic parameters after HP eradication were compared over a 5-year follow-up period. Results: Among 1,521 subjects, there was no difference in baseline metabolic parameters between the HP-uninfected (n=509) and HP-infected (n=1,012) groups, regardless of sex. Analysis of the metabolic parameters during follow-up among HP-uninfected (n=509), HP-non-eradicated (n=346), and HP-eradicated (n=666) groups showed that high-density lipoprotein (HDL) and the body mass index (BMI) increased after eradication, with a significant difference at 1-year of follow-up. In females, HDL increased after eradication (p=0.023), and the BMI increased after eradication in male subjects (p=0.010). After propensity score matching, the HDL change in female remained significant, but the statistical significance of the change in BMI in the male group became marginally significant (p=0.089). Conclusions HP eradication affected metabolic parameters differently depending on sex. HDL significantly increased only in females over time, especially at 1-year of follow-up. In contrast, BMI showed an increasing tendency over time in males, especially at the 1-year follow-up.

Background: Coronavirus disease 2019 (COVID-19) is an ongoing global public health threat and different variants of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been identified. This study aimed to analyse the factors associated with negative conversion of polymerase chain reaction (PCR) and prognosis in critically ill patients according to the SARS-CoV-2 variant. Methods: This study retrospectively analysed 259 critically ill patients with COVID-19 who were admitted to the intensive care unit of a tertiary medical center between January 2020 and May 2022. The Charlson comorbidity index (CCI) was used to evaluate comorbidity, and a negative PCR test result within 2 weeks was used to define negative PCR conversion. The cases were divided into the following three variant groups, according to the documented variant of SARS-CoV-2 at the time of diagnosis: non-Delta (January 20, 2020–July 6, 2021), Delta (July 7, 2021– January 1, 2022), and Omicron (January 30, 2022–April 24, 2022). Results: The mean age of the 259 patients was 67.1 years and 93 (35.9%) patients were female. Fifty (19.3%) patients were smokers, and 50 (19.3%) patients were vaccinated. The CCI (hazard ratio [HR], 1.555; p<0.001), vaccination (HR, 0.492; p=0.033), and Delta variant (HR, 2.469; p=0.002) were significant factors for in-hospital mortality. The Delta variant (odds ratio, 0.288; p=0.003) was associated with fewer negative PCR conversion; however, vaccination (p=0.163) and remdesivir (p=0.124) treatments did not. Conclusion The Delta variant of SARS-CoV-2 is associated with lower survival and negative PCR conversion. Contrary to expectations, vaccination and remdesivir may not affect negative PCR conversion in critically ill patients with COVID-19.