A5023214523- Renal Diseases and Glomerulopathies
- Ion Transport and Channel Regulation
- Renal Transplantation Outcomes and Treatments
- Genetic Syndromes and Imprinting
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Renal and related cancers
- Genomics and Rare Diseases
- Pediatric Urology and Nephrology Studies
- Platelet Disorders and Treatments
- Ion channel regulation and function
- Transplantation: Methods and Outcomes
- Complement system in diseases
- Biochemical and Molecular Research
- Epigenetics and DNA Methylation
- Organ Transplantation Techniques and Outcomes
- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Cardiac electrophysiology and arrhythmias
- Kruppel-like factors research
- Ureteral procedures and complications
- Pregnancy and Medication Impact
- Acute Kidney Injury Research
- Magnesium in Health and Disease
- Genomic variations and chromosomal abnormalities
- Pneumonia and Respiratory Infections
Korea University
2024
Seoul National University Children's Hospital
2019-2024
Korea University Medical Center
2024
Seoul National University
2021-2023
Seoul National University Hospital
2021-2023
Seoul National University Bundang Hospital
2023
Weatherford College
2023
New Generation University College
2023
Chungnam National University Hospital
2023
Dapagliflozin, a sodium-glucose cotransporter-2 inhibitor, has shown results in slowing estimated glomerular filtration rate (eGFR) decline and reducing proteinuria adult patients with chronic kidney disease. This retrospective study examines dapagliflozin's effects 22 children disease proteinuria.
ABSTRACT Introduction Holocarboxylase synthetase deficiency (HLCS deficiency, OMIM #253270) is an exceedingly rare metabolic disorder resulting in multiple carboxylase deficiencies owing to impaired biotin cycle. Clinical manifestations include severe acidosis, hyperammonemia, tachypnea, skin rash, alopecia, feeding problems, hypotonia, developmental delay, seizures, and, cases, death. Methods and Results An 8‐day‐old female neonate presented with lactic necessitating sedation mechanical...
Introduction Bartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb loop Henle and/or distal convoluted tubule kidney. BS characterized polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium sodium supplements, potassium-sparing diuretics, nonsteroidal anti-inflammatory drugs can be used treat BS. While its symptoms initial...
Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs halluces. RSTS patients showed intellectual disability health problems short stature, ophthalmologic abnormalities, heart defects, genitourinary variable types of tumors. Although mutations in CREBBP EP300 genes are associated features, genetic causation still unknown 30% patients.We present molecular 25 unrelated...
Costello syndrome (CS) is a rare genetic disorder characterized by distinctive facial appearance, cardiopulmonary complications, severe growth retardation, skin and skeletal defects, developmental delay, tumor predisposition. CS caused heterozygous de novo mutations in the proto-oncogene <i>HRAS</i>, which component of RAS/mitogen-activated protein kinase pathway. Herein, we reviewed phenotypic features 5 Korean patients who were genetically diagnosed with CS. Atrial tachycardia...
ABSTRACT Background Sotos syndrome (SS) is a rare disorder characterized by overgrowth, distinctive facial features, and intellectual disability that primarily caused NSD1 pathogenic variants or 5q35 microdeletions. Methods We retrospectively analyzed the clinical characteristics 339 anthropometric measurements over an average of 4.3 years follow‐up in 57 Korean children with SS. Sex‐specific percentile curves for height, weight, head circumference were developed using generalized additive...
Abstract Beckwith–Wiedemann syndrome (BWS) is an epigenetic overgrowth syndrome. Despite its distinctive growth pattern, the detailed trajectories of children with BWS remain largely unknown. We retrospectively analyzed 413 anthropometric measurements over average 4.4 years follow‐up in 51 BWS. constructed sex‐specific percentile curves for height, weight, and head circumference using a generalized additive model location, scale, shape. Males exhibited greater height at all ages evaluated,...
Single gene pathogenic mutations have been implicated in up to 30% of pediatric steroid-resistant nephrotic syndrome (SRNS) cases, mostly infantile patients. Among them is LAMA5 , which has recently discovered and encodes the laminin α5 chain. The α5β2γ1 heterotrimer an essential component glomerular basement membrane necessary for embryogenesis immune modulation. Biallelic variants identified one adult ten syndromes (NS) patients with variable phenotypes. truncating this proven cause SRNS....
Abstract Background We aimed to investigate the efficacy and safety of long-term repeated use Rituximab (RTX) in pediatric patients with nephrotic syndrome (NS). Methods Retrospective review medical records for 50 steroid-dependent NS (SDNS) who had received more than three cycles RTX was conducted; each consisted one four infusions until B lymphocytes were depleted. Results The median age starting first cycle 12.4 years (interquartile ranges (IQR) 10.2–14.6). During a follow-up period 6.3...
Donor-recipient size mismatching is commonly occurs in pediatric kidney transplantation (KT). However, its effect on graft survival remains unknown. This study aimed to determine the of donor-recipient mismatch long-term rate transplant kidneys KT.A total 241 patients who received KT were enrolled. The medical records all retrospectively reviewed, and correlation between function outcome was analyzed according mismatch.Recipients donors' mean body weight at time 34.31 ± 16.85 56.53 16.73 kg,...
Background: Donor-recipient size mismatching is commonly occurs in pediatric kidney transplantation (KT).However, its effect on graft survival remains unknown.This study aimed to determine the of donor-recipient mismatch longterm rate transplant kidneys KT.Methods: A total 241 patients who received KT were enrolled.The medical records all retrospectively reviewed, and correlation between function long-term outcome was analyzed according mismatch.Results: Recipients donors mean body weight at...
Purpose This article was to collect data on the safety of coronavirus disease 2019 (COVID-19) vaccines in children with underlying medical conditions. Methods We constructed a prospective cohort and adolescents aged 5 19 years who had received at least one dose COVID-19 vaccine. Patients diagnosed treated for chronic kidney disease, autoimmune or other conditions Seoul National University Childrenâs Hospital were recruited from June December 2022. A mobile survey questionnaire sent their...
Purpose Hematuria and proteinuria have various causes consequential outcomes in children. Immunosuppressants are needed some children with biopsy-proven glomerulonephropathy but many adverse effects. Since the clinical practice patterns of Korean pediatric nephrologists diverse, we surveyed their opinions. Methods Using a vignette, survey was emailed to all Society Pediatric Nephrology members. The questionnaires included diagnosis, examination, medications, dietary recommendations for...
Purpose: To analyze electrocardiograms (ECGs) of patients with a salt-losing tubulopathy (SLT) and to determine the frequency risk factors for long QT arrhythmia.Methods: A total 203 aged <19 years SLT, specifically Bartter syndrome Gitelman syndrome, who had 12-lead ECG were included in this retrospective study. We analyzed presence an arrhythmia or prolonged corrected (QTc) on ECGs obtained these patients. Demographic laboratory data compared between abnormal normal findings.Results:...
Background: With the number of solid organ transplantations (SOT) in Korea increasing, interest long-term complications transplant recipients (SOTRs) is also increasing.Malignancy one leading causes death and use immunosuppressants or cancer-causing virus infection considered as risk factors.Also, it known that distribution factors cancers are different from those general population.So here we reported prevalence Korean SOTRs.Methods: Using data National Health Insurance Service, compared...