Publications by authors named "Hae Il Cheong"
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.
Eur J Hum Genet
April 2025
PAX2-related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS) type 7. We retrospectively analyzed 27 Korean patients with PAX2 pathogenic variants detected between 2004 and 2022 and conducted a literature review of 328 cases, including 301 previously reported. In our cohort, 19 had RCS, 4 had FSGS, and 4 had isolated congenital anomalies of the kidneys and urinary tract.
View Article and Find Full Text PDFIn a randomized, open-label phase 3 study of 61 children aged 1-12 years old with X-linked hypophosphatemia (XLH) previously treated with conventional therapy, changing to burosumab every 2 weeks (Q2W) for 64 weeks improved the phosphate metabolism, radiographic rickets, and growth compared with conventional therapy. In this open-label extension period (weeks 64-88), 21 children continued burosumab Q2W at the previous dose or crossed over from conventional therapy to burosumab starting at 0.8 mg/kg Q2W with continued clinical radiographic assessments through week 88.
View Article and Find Full Text PDFArticle Synopsis
- The study focused on understanding the genotype-phenotype relationships in children with Gitelman syndrome (GS) by analyzing genetic variations in the SLC12A3 gene in 50 Korean children.
- The median age for diagnosis was 10.5 years, with 68% having biallelic variants; those with truncating variants experienced more severe electrolyte imbalances compared to those without.
- Findings suggest that children with monoallelic SLC12A3 variants exhibited similar clinical symptoms and treatment responses as those with biallelic variants.
Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT).
Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%).
Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia.
Pediatr Transplant
December 2023
Background: Schimke immuno-osseous dysplasia (SIOD) is a rare systemic disease characterized by short stature, proteinuria, and recurrent infections. Patients usually have spondyloepiphyseal dysplasia, and progressive steroid-resistant nephropathy that leads to kidney failure. However, their clinical course after kidney transplantation (KT) is not yet well known.
View Article and Find Full Text PDFGeneration of a human induced pluripotent stem cell line from a patient with dent disease.
Stem Cell Res
September 2023
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Here, we successfully established a human induced pluripotent stem cells (hiPSC) line from peripheral blood mononuclear cells of 10-year-old male with Dent disease 1 caused by the mutation of Chloride Voltage-Gated Channel 5 gene. This hiPSCs displayed features similar to human embryonic stem cells, including pluripotency-associated markers expression, normal karyotype, and the ability to differentiate into cells representing all three germ layers.
View Article and Find Full Text PDFCorrigendum: Long-term outcome of Bartter syndrome in 54 patients: a multicenter study in Korea.
Front Med (Lausanne)
May 2023
[This corrects the article DOI: 10.3389/fmed.2023.
View Article and Find Full Text PDFArticle Synopsis
- - This study examined the relationship between genotype and phenotype in X-linked Alport syndrome (XLAS) among 216 Korean patients, finding that males experience earlier onset and more severe kidney failure than females.
- - About 60% of male patients developed kidney failure by the age of 25, with significant differences in kidney survival based on their genetic group, while only 20% of female patients experienced kidney failure by age 50.
- - The results suggest a clear genotype-phenotype correlation in both male and female patients, highlighting the need for better understanding of XLAS in women, who tend to have a later onset of symptoms.
Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
J Clin Endocrinol Metab
October 2023
Article Synopsis
- * The analysis compared the effects of switching to burosumab versus maintaining higher or lower doses of conventional therapy on skeletal responses, focusing on the improvement in radiographic assessments of rickets at 64 weeks.
- * Results showed that children receiving burosumab had significantly higher improvements in their rickets and lower levels of serum alkaline phosphatase than those continuing conventional therapy, regardless of their previous phosphate or vitamin D dosages.
Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea.
Front Med (Lausanne)
March 2023
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 of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium and/or sodium supplements, potassium-sparing diuretics, and nonsteroidal anti-inflammatory drugs can be used to treat BS.
View Article and Find Full Text PDFEffects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with Variants.
Biomed Res Int
September 2022
Article Synopsis
- Primary coenzyme Q10 deficiency-6 (COQ10D6) is a genetic disorder that leads to significant health issues, including steroid-resistant nephrotic syndrome (SRNS) and sensorineural hearing loss (SNHL), primarily affecting children.
- A study of 12 children from 11 unrelated Korean families identified several genetic variants linked to COQ10D6 and highlighted the progressive nature of SNHL, demonstrating that a prior diagnosis of SRNS typically precedes hearing loss.
- CoQ10 replacement therapy showed a 42.9% response rate in preventing further hearing deterioration or improving hearing, with positive outcomes suggesting a strong link between specific genotypes and audiological benefits, paving the way for personalized treatment strategies in
Article Synopsis
- * A subgroup analysis of data from a phase 3 study involving 134 adults revealed no significant differences in treatment benefits among 14 clinically relevant subgroups, including variations in sex, pain levels, and physical function.
- * Overall, burosumab consistently showed better outcomes compared to placebo, suggesting it is beneficial for all symptomatic adults with active XLH, although some treatment effects were small and not statistically significant across subgroups. *
Context: Younger age at treatment onset with conventional therapy (phosphate salts and active vitamin D; Pi/D) is associated with improved growth and skeletal outcomes in children with X-linked hypophosphatemia (XLH). The effect of age on burosumab efficacy and safety in XLH is unknown.
Objective: This work aimed to explore the efficacy and safety of burosumab vs Pi/D in younger (< 5 years) and older (5-12 years) children with XLH.
The burden of disease of X-linked hypophosphatemia (XLH) in East Asia is poorly understood. This was a cross-sectional study using an online questionnaire to evaluate health-related quality of life (HRQOL) and disease complications in Japanese and Korean patients with XLH. Adults with XLH and the caregivers of children <18 years of age with XLH in Japan and Korea were surveyed.
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- This study focused on pediatric rhabdomyolysis in South Korea, analyzing 880 cases from 23 hospitals to identify characteristics and risk factors related to acute kidney injury (AKI).
- The most affected age group was children aged 3 to 5, with neurological disorders and infections being common causes of rhabdomyolysis, and an 11.3% incidence rate of AKI was noted among the patients.
- Key risk factors for AKI were identified, including multiorgan failure and specific laboratory findings, which could help in early detection and intervention for at-risk pediatric patients.
Gordon syndrome caused by a mutation in a patient with short stature in Korea: a case report.
J Pediatr Endocrinol Metab
February 2022
Article Synopsis
- - Gordon syndrome (GS), a rare tubular disease, is characterized by high blood pressure, elevated potassium levels, and metabolic acidosis, stemming from mutations in specific genes.
- - A case study in Korea details a 7-year-old boy diagnosed with GS caused by a mutation in a gene (c.1377+1G > C in intron 9), who initially presented with hypertension and hyperkalemia while being evaluated for short stature.
- - After thiazide treatment that normalized his electrolyte levels, the patient continued to experience persistent hypertension and short stature, highlighting the need for early identification and management of GS in children with these symptoms.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a common type of rickets caused by gene mutations, with a study analyzing the effects of these mutations in 81 patients.
- The research grouped patients into nontruncating and truncating mutation categories and found no significant differences in early symptoms or test results between the two groups.
- However, over time, patients with truncating mutations had lower phosphate levels, higher rates of nephrocalcinosis, and more frequent orthopedic surgeries than those with nontruncating mutations, suggesting potential genotype-phenotype correlations in disease outcomes.
Article Synopsis
- Chronic kidney disease (CKD) negatively impacts growth and cognitive function in children and adolescents, prompting a study to explore intelligence levels and risk factors among this population.
- In the study involving 81 CKD patients under 18, the average IQ was 91, with 24.7% scoring below 80; factors like short stature, severe CKD stages, and longer illness duration correlated with lower IQs.
- Findings suggest a need for further investigation into cognitive impairment related to growth issues in pediatric CKD patients, with early interventions potentially improving IQ outcomes through treatments like kidney transplantation.
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.
Calcif Tissue Int
May 2021
Article Synopsis
- A phase 3 trial demonstrated that switching to burosumab, a monoclonal antibody, significantly improved various health measures in children with X-linked hypophosphatemia compared to conventional therapy.
- Patient-reported outcomes showed improvements in pain interference, physical function, and overall health scores at specific intervals for those on burosumab, while changes were minimal for those on conventional therapy.
- Statistically significant differences were noted at week 40 for pain interference and at both weeks 40 and 64 for physical health scores when using burosumab, highlighting its effectiveness over traditional treatments.
Article Synopsis
- Cardiovascular disease is the leading cause of death in children with chronic kidney disease (CKD), with left ventricular hypertrophy (LVH) serving as an important early indicator of related heart issues.
- A study examined 244 Korean pediatric CKD patients, using echocardiography to assess left ventricular diastolic dysfunction (LVDD) and its association with LVH.
- Results indicated that 40.1% had LVH, while 4.5% had LVDD, with younger age, low hemoglobin levels, and increased wall thickness being significant risk factors for developing LVDD.
Renal Syndromic Hearing Loss Is Common in Childhood-onset Chronic Kidney Disease.
J Korean Med Sci
November 2020
Background: Hearing loss (HL) in children may adversely affect their development. HL is more prevalent in patients with chronic kidney disease (CKD) than in the general population. This study evaluated the prevalence of HL and its underlying diseases in patients with childhood-onset in CKD.
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- Children with nephrotic syndrome (NS) are at a higher risk for acute kidney injury (AKI), and the incidence of AKI in this group is rising, prompting a nationwide study to explore this issue in hospitalized pediatric patients.
- The study involved 363 children with NS who were hospitalized over a five-year period, revealing that 16.2% experienced AKI, predominantly due to long disease duration, low albumin levels, and treatment with methylprednisolone.
- Most AKI cases were reversible, with a small percentage leading to chronic kidney disease; however, those with AKI had longer hospital stays compared to those without it, indicating the clinical significance of monitoring these patients closely.
A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis.
J Korean Med Sci
August 2020
Article Synopsis
- Renal tubular dysgenesis (RTD) is a rare, fatal disorder caused by poor development of kidney tubules, leading to complications such as oligohydramnios and characteristic physical deformities known as the Potter sequence.
- The case discussed involves a preterm boy who developed severe symptoms including anuria and hypotension, with imaging revealing kidney enlargement and bone structure issues, ultimately leading to death on day 23 of life.
- Genetic analysis confirmed RTD through the identification of specific pathogenic variations, suggesting clinicians should consider RTD in cases of severe oligohydramnios and persistent low blood pressure in newborns.
Introduction: Atypical hemolytic uremic syndrome (aHUS) is a progressive and potentially life-threatening disease characterized by complement-mediated thrombotic microangiopathy. Patients with aHUS may experience fatigue, which can negatively impact their lives, but there is a knowledge gap regarding disease burden in these patients.
Methods: In this longitudinal study, patients with aHUS from the Global aHUS Registry who completed patient-reported outcome assessments (Functional Assessment of Chronic Illness Therapy-Fatigue scale [FACIT-Fatigue], general health status, and work status) at ≥2 time points were assessed relative to treatment status: (i) never treated with eculizumab; (ii) on eculizumab at registry enrollment and continued therapy; and (iii) started eculizumab after registry enrollment.