최나예 교수

To date, this is the largest cohort of patients with RSTS including EP300-related patients in Korea. Future large-scale studies to find genetic mutation of molecularly unsolved patients and long-term prospective studies are required to validate our results.

Costello syndrome (CS) is a rare genetic disorder characterized by distinctive facial appearance, cardiopulmonary complications, severe growth retardation, skin and skeletal defects, developmental delay, and tumor predisposition. CS is caused by heterozygous de novo mutations in the proto-oncogene HRAS, which is a component of the RAS/mitogen-activated protein kinase pathway. Herein, we reviewed the phenotypic and genetic features of 5 Korean patients who were genetically diagnosed with CS. Atri

Dapagliflozin has not been associated with serious side effects. Further prospective clinical trials are needed to confirm the efficacy and safety of dapagliflozin in children with kidney disease.

BS patients require a large amount of potassium supplementation along with potassium-sparing agents throughout their lives, but tend to improve with age. Despite management, a significant portion of this population exhibited growth impairment, while 11% developed CKD G3-G5.

Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth syndrome. Despite its distinctive growth pattern, the detailed growth trajectories of children with BWS remain largely unknown. We retrospectively analyzed 413 anthropometric measurements over an average of 4.4 years of follow-up in 51 children with BWS. We constructed sex-specific percentile curves for height, weight, and head circumference using a generalized additive model for location, scale, and shape. Males with BWS exhibited gr

Bartter syndrome (BS) is one of the most well-known hereditary tubular disorders, characterized by hypokalemic, hypochloremic metabolic alkalosis, and polyuria/polydipsia. This disease usually presents before or during infancy, and adult nephrologists often inherit the patients from pediatric nephrologists since this is a life-long condition. Here, a few case scenarios will be presented to recount how they first got diagnosed and how their clinical courses were during childhood until adulthood,

Single gene pathogenic mutations have been implicated in up to 30% of pediatric steroid-resistant nephrotic syndrome (SRNS) cases, mostly in infantile patients. Among them is <i>LAMA5</i>, which has been recently discovered and encodes the laminin α5 chain. The laminin α5β2γ1 heterotrimer is an essential component of the glomerular basement membrane and is necessary for embryogenesis and immune modulation. Biallelic <i>LAMA5</i> variants have been identified in one adult and ten pediatric nephro

Donor-recipient size mismatch in pediatric KT is not an important factor in determining the long-term prognosis of transplant kidneys.

Our case highlights the significance of early genetic testing in neonates with unexplained metabolic disorders to enable timely diagnosis and therapy initiation. Biotin therapy has demonstrated remarkable efficacy in improving the clinical condition of patients with HLCS deficiency, leading to favorable outcomes.

One-third of patients with KS exhibited various kidney or urinary abnormalities, and 34% progressed to CKD. Screening for kidney or urinary issues and regular follow-up of kidney function are essential for KS management.

Purpose: Acute kidney injury (AKI) is a common and life-threatening complication in hospitalized patients, leading to increased hospital stays and higher mortality rates. In South Korea, prospective studies that comprehensively describe the epidemiology of AKI in this population are lacking. This study aimed to evaluate the demographic characteristics of AKI in children treated at a tertiary care center in South Korea.Methods: This prospective cohort study included children who were diagnosed wi

Abstract Background We aimed to investigate the efficacy and safety of long-term repeated use of Rituximab (RTX) in pediatric patients with nephrotic syndrome (NS). Methods Retrospective review of medical records for 50 patients with steroid-dependent NS (SDNS) who had received more than three cycles of RTX was conducted; each consisted of one to four infusions of RTX until B lymphocytes were depleted. Results The median age of starting the first RTX cycle was 12.4 years (interquartile ranges (I

There is significant global variability in the spectrum of diseases leading to pediatric KF, partially attributable to genetic, environmental, and macroeconomic factors.

[This corrects the article DOI: 10.3389/fmed.2023.1099840.].