Hee Gyung Kang
A5012698044- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Dialysis and Renal Disease Management
- Pediatric Urology and Nephrology Studies
- Ion Transport and Channel Regulation
- Complement system in diseases
- Chronic Kidney Disease and Diabetes
- Genetic and Kidney Cyst Diseases
- Renal Transplantation Outcomes and Treatments
- Parathyroid Disorders and Treatments
- Platelet Disorders and Treatments
- Cell Adhesion Molecules Research
- Adolescent and Pediatric Healthcare
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Urinary Tract Infections Management
- Central Venous Catheters and Hemodialysis
- Renal cell carcinoma treatment
- Autoimmune Bullous Skin Diseases
- Pregnancy and Medication Impact
- Acute Kidney Injury Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Liver Disease and Transplantation
- Organ Transplantation Techniques and Outcomes
Seoul National University Children's Hospital
2016-2025
Seoul National University
2016-2025
Seoul National University Hospital
2015-2024
New Generation University College
2008-2024
Kangwon National University Hospital
2023
Korea University
2023
Chungnam National University Hospital
2019-2023
Seoul National University Bundang Hospital
2023
Weatherford College
2023
St. Vincent's Hospital
2021
Abstract EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0‐68 years) disorders were subjected sequencing. Candidate variants identified by and confirmed testing family members and/or clinical reassessments. reported a total 228 200 (60.6%) probands. The average number organs involved...
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants these genes individuals referred for genetic testing 12 accredited diagnostic laboratories worldwide, addition to all published COL4A5, COL4A3 and COL4A4 LOVD databases. It also determined genotype-phenotype correlations where clinical data were available. Individuals was suspected clinically on biopsy (renal failure, hearing loss,...
The efficacy and safety of rituximab in childhood steroid-resistant nephrotic syndrome (SRNS) remains unclear. Therefore, we conducted a retrospective cohort study at 28 pediatric nephrology centers from 19 countries Asia, Europe, North America Oceania to evaluate this. Children with SRNS treated were analyzed according the duration calcineurin inhibitors (CNIs) treatment before [6 months or more (CNI-resistant) under 6 months]. Primary outcome was complete/partial remission (CR/PR) as...
Abstract PAX2 -related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with pathogenic variants detected between 2004 2022 conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 FSGS, isolated congenital anomalies the kidneys urinary tract. Patients were classified by variant into predicted loss function (pLoF) non-pLoF groups,...
Ravulizumab, a long-acting complement C5 inhibitor engineered from eculizumab, allows extending maintenance dosing every 2–3 weeks to 4–8 depending on bodyweight. Here, we evaluated the efficacy and safety of ravulizumab in inhibitor-naïve children (under 18 years) with atypical hemolytic uremic syndrome. In this phase III, single-arm trial, was administered eight patients 20 kg over, four under kg. The primary endpoint complete thrombotic microangiopathy response (normalization platelet...
To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations HLA-DR/DQ region, common variants NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR) =1.90) TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions achieved significance were replicated Korean, South Asian African populations. Trans-ethnic meta-analyses including...
Rationale & ObjectiveAtypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy (TMA) caused by complement dysregulation. Ravulizumab C5 inhibitor (C5i) approved for the treatment aHUS. This analysis assessed long-term outcomes ravulizumab in adults and pediatric patients with aHUS.Study DesignThis reports 2-year data from two phase 3, single-arm studies.Setting ParticipantsOne study included C5i-naive (NCT02949128) other cohorts (C5i-naive those who switched to...
Abstract Background The purpose of this study was to examine the prevalence hypertension in Korean adolescents, its long-term trends, and factors associated with development hypertension. Methods Data Korea National Health Nutrition Examination Survey (KNHANES) from 2007 2020 were combined into three time periods (2007–2011, 2012–2016, 2017–2020). A total 11,146 adolescents aged 10–18 included analysis. definition based on 2017 American Academy Pediatrics guidelines for Results age-adjusted...
Abstract Introduction Proteinuria is a modifiable risk factor for chronic kidney disease (CKD) progression in children. Finerenone, selective, non-steroidal, mineralocorticoid receptor antagonist (MRA) has been approved to treat adults with CKD associated type 2 diabetes mellitus (T2DM) following results from the phase III clinical trials FIDELIO-DKD (NCT02540993) and FIGARO-DKD (NCT02545049). In pre-specified pooled analysis of both studies ( N = 13,026), finerenone was shown have an...
<h2>Abstract</h2> The haemolytic uraemic syndromes (HUS) are a heterogeneous group of conditions only some which mediated by complement (CaHUS). We report the outcome 2023 International Society Nephrology HUS Forum where global panel experts considered current state art, identified areas uncertainty, and proposed optimal solutions. Areas uncertainty for future research included: nomenclature HUS; novel testing strategies; identification biomarkers; genetic predisposition to aHUS; dosing...
Allograft(dagger) transplant outcome, rejection or tolerance, depends upon striking a balance between the pertinent cytopathic and regulatory T cells. The drug cyclosporine is widely used immunosuppressive agent among recipients. Previous studies have demonstrated that blocks apoptosis of activated cells ability costimulation blockade based regimens to create peripheral tolerance. We now test hypothesis mechanism by which tolerance induction IL-2 dependent, linked detrimental effect T(reg)...