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Article ; Online: Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome.

Choi, Naye / Kim, Hwa Young / Ko, Jung Min

2024 Volume 105, Issue 5, Page(s) 533–542

Abstract: 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 ...

Abstract	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 greater height at all ages evaluated, weight before the age of 10, and head circumference before the age of 9 than those of the general population. Females with BWS showed greater height before the age of 7, weight before the age of 4.5, and head circumference before the age of 7 than those of the general population. At the latest follow-up visit at a mean 8.4 years of age, bone age was significantly higher than chronological age. Compared to paternal uniparental disomy (pUPD), males with imprinting center region 2-loss of methylation (IC2-LOM) had higher standard deviation score (SDS) for height and weight, while females with IC2-LOM showed larger SDS for head circumference. These disease-specific growth charts can serve as valuable tools for clinical monitoring of children with BWS.
MeSH term(s)	Male ; Child ; Female ; Humans ; Beckwith-Wiedemann Syndrome/diagnosis ; Beckwith-Wiedemann Syndrome/genetics ; DNA Methylation/genetics ; Genomic Imprinting ; Retrospective Studies ; Growth Charts ; Growth Disorders ; Republic of Korea/epidemiology
Language	English
Publishing date	2024-01-24
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14488
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Article: Bartter Syndrome: Perspectives of a Pediatric Nephrologist.

Choi, Naye / Kang, Hee Gyung

Electrolyte & blood pressure : E & BP

2022 Volume 20, Issue 2, Page(s) 49–56

Abstract: 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 ... ...

Abstract	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, in addition to a brief review of the disease and its treatment.
Language	English
Publishing date	2022-12-30
Publishing country	Korea (South)
Document type	Journal Article ; Review
ZDB-ID	3017960-9
ISSN	2092-9935 ; 1738-5997
ISSN (online)	2092-9935
ISSN	1738-5997
DOI	10.5049/EBP.2022.20.2.49
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Article: Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome.

Sunwoo, Yoon / Choi, Naye / Min, Jeesu / Kim, Jihyun / Ahn, Yo Han / Kang, Hee Gyung

Frontiers in pediatrics

2023 Volume 10, Page(s) 1054082

Abstract: 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 ... ...

Abstract	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
Language	English
Publishing date	2023-01-11
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.1054082
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Article ; Online: Efficacy and safety of long-term repeated use of rituximab in pediatric patients with nephrotic syndrome.

Choi, Naye / Min, Jeesu / Kim, Ji Hyun / Kang, Hee Gyung / Ahn, Yo Han

Pediatric nephrology (Berlin, Germany)

2023 Volume 39, Issue 3, Page(s) 771–780

Abstract: Background: We aimed to investigate the efficacy and safety of repeated use of rituximab (RTX) in pediatric patients with nephrotic syndrome (NS).: Methods: Retrospective review of 50 patients with steroid-dependent NS (SDNS) who had received more ... ...

Abstract	Background: We aimed to investigate the efficacy and safety of repeated use of rituximab (RTX) in pediatric patients with nephrotic syndrome (NS). Methods: Retrospective review of 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 until B lymphocytes were depleted. Results: The median age of starting the first RTX cycle was 12.4 years (interquartile ranges (IQR) 10.2-14.6). During a median follow-up period of 6.3 (IQR 3.6-8.6) years, patients received a median of 5.0 RTX cycles (IQR 4.0-7.3). The number of relapses decreased from a median of 2.0 relapses per year (IQR 1.0-3.0) to 0.2 relapses per year (IQR 0.0-0.5) after long-term RTX treatments (P < 0.001). Longer relapse-free periods were associated with more than four RTX cycles, longer B-cell depletion, older age at each RTX treatment, and lower cholesterol levels. B lymphocytes recovered to 1% at a median of 5.9 months (95% confidence interval 5.7-6.1) after RTX administration. Factors related to a longer period of B-cell depletion included more than five RTX cycles, a higher dose of RTX, older age at treatment, and concurrent use of antimetabolites. During repeated RTX treatments, 8.0%, 6.0%, and 2.0% of patients developed hypogammaglobulinemia, severe infection, and severe neutropenia, respectively. Conclusions: Long-term repeated use of RTX may be effective and safe in pediatric NS patients. Furthermore, the redosing of RTX could be chosen by considering predictive factors for relapse-free and B-cell depletion periods.
MeSH term(s)	Child ; Humans ; Rituximab/adverse effects ; Nephrotic Syndrome/drug therapy ; Treatment Outcome ; Time Factors ; Recurrence ; Retrospective Studies ; Immunosuppressive Agents/therapeutic use
Chemical Substances	Rituximab (4F4X42SYQ6) ; Immunosuppressive Agents
Language	English
Publishing date	2023-09-08
Publishing country	Germany
Document type	Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-023-06124-4
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Zs.A 2196: Show issues

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Article: Effect of donor-recipient size mismatch on long-term graft survival in pediatric kidney transplantation: a multicenter cohort study.

Park, Min Ji / Baek, Hee Sun / Song, Ji Yeon / Choi, Naye / Ahn, Yo Han / Kang, Hee Gyung / Cho, Min Hyun

Kidney research and clinical practice

2023 Volume 42, Issue 6, Page(s) 731–741

Abstract: 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 effect of donor-recipient size mismatch on the long-term ... ...

Abstract	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 effect of donor-recipient size mismatch on the long-term survival rate of transplant kidneys in pediatric KT. Methods: A total of 241 pediatric patients who received KT were enrolled. The medical records of all patients were retrospectively reviewed, and the correlation between donor-recipient size mismatch and graft function and long-term graft outcome was analyzed according to donor-recipient size mismatch. Results: Recipients and donors' mean body weight at the time of KT were 34.31 ± 16.85 and 56.53 ± 16.73 kg, respectively. The mean follow-up duration was 96.49 ± 52.98 months. A significant positive correlation was observed between donor-recipient body weight ratio (DRBWR) or donor-recipient body surface area ratio (DRBSR) and graft function until 1 year after KT. However, this correlation could not be confirmed at the last follow-up. The results of long-term survival analysis using Fine and Gray's subdistribution hazard model showed no significant difference of the survival rate of the transplant kidney according to DRBWR or DRBSR. Conclusion: Donor-recipient size mismatch in pediatric KT is not an important factor in determining the long-term prognosis of transplant kidneys.
Language	English
Publishing date	2023-11-29
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2656420-8
ISSN	2211-9132
ISSN	2211-9132
DOI	10.23876/j.krcp.23.170
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Article: Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea.

Choi, Naye / Kim, Seong Heon / Bae, Eun Hui / Yang, Eun Mi / Lee, Keum Hwa / Lee, Sang-Ho / Lee, Joo Hoon / Ahn, Yo Han / Cheong, Hae Il / Kang, Hee Gyung / Hyun, Hye Sun / Kim, Ji Hyun

Frontiers in medicine

2023 Volume 10, Page(s) 1099840

Abstract: 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. ... ...

Abstract	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. While its symptoms and initial management are relatively well known, long-term outcomes and treatments are scarce. Methods: We retrospectively reviewed 54 Korean patients who were clinically or genetically diagnosed with BS from seven centers in Korea. Results: All patients included in this study were clinically or genetically diagnosed with BS at a median age of 5 (range, 0-271) months, and their median follow-up was 8 (range, 0.5-27) years. Genetic diagnosis of BS was confirmed in 39 patients: 4 had Conclusion: 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.
Language	English
Publishing date	2023-03-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2775999-4
ISSN	2296-858X
ISSN	2296-858X
DOI	10.3389/fmed.2023.1099840
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Article: Corrigendum: Long-term outcome of Bartter syndrome in 54 patients: a multicenter study in Korea.

Choi, Naye / Kim, Seong Heon / Bae, Eun Hui / Yang, Eun Mi / Lee, Keum Hwa / Lee, Sang-Ho / Lee, Joo Hoon / Ahn, Yo Han / Cheong, Hae Il / Kang, Hee Gyung / Hyun, Hye Sun / Kim, Ji Hyun

Frontiers in medicine

2023 Volume 10, Page(s) 1225353

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

Abstract	[This corrects the article DOI: 10.3389/fmed.2023.1099840.].
Language	English
Publishing date	2023-05-31
Publishing country	Switzerland
Document type	Published Erratum
ZDB-ID	2775999-4
ISSN	2296-858X
ISSN	2296-858X
DOI	10.3389/fmed.2023.1225353
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Article ; Online: Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Choi, Naye / Kim, Hwa Young / Lim, Byung Chan / Chae, Jong-Hee / Kim, Soo Yeon / Ko, Jung Min

Molecular genetics & genomic medicine

2021 Volume 9, Issue 10, Page(s) e1791

Abstract: Background: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual ... ...

Abstract	Background: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short stature, ophthalmologic abnormalities, congenital heart defects, genitourinary defects, and variable types of tumors. Although mutations in CREBBP and EP300 genes are associated with RSTS features, genetic causation is still unknown in 30% of patients. Methods: We present clinical and molecular genetic characteristics of 25 unrelated Korean patients clinically diagnosed with RSTS. Sanger sequencing analysis and multiplex ligation-dependent probe amplification for CREBBP in 25 patients and exome sequencing of CREBBP-negative cases were performed in nine patients successively. Results: Causative variants were identified in 20 (80%) patients: 16 (64%) in CREBBP and 4 (16%) in EP300. All the identified variants predict protein truncation (11 frameshift, 2 nonsense, 1 splicing-site, and 6 large intragenic deletions); there are no repeatedly identified sequence variants. Four of the CREBBP and all four EP300 variants are novel. Intellectual disability was noted in 24/25 patients (96%); no difference was found between CREBBP and EP300 groups. One patient with a CREBBP variant (4%) had malignant tumor. Conclusions: 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.
MeSH term(s)	Biological Variation, Population ; CREB-Binding Protein/genetics ; Child ; Child, Preschool ; E1A-Associated p300 Protein/genetics ; Female ; Follow-Up Studies ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Phenotype ; Republic of Korea ; Rubinstein-Taybi Syndrome/diagnosis ; Rubinstein-Taybi Syndrome/genetics ; Sequence Analysis, DNA ; Whole Exome Sequencing
Chemical Substances	CREB-Binding Protein (EC 2.3.1.48) ; E1A-Associated p300 Protein (EC 2.3.1.48) ; EP300 protein, human (EC 2.3.1.48)
Language	English
Publishing date	2021-08-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.1791
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Article ; Online: Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.

Choi, Naye / Ko, Jung Min / Shin, Seung Han / Kim, Ee Kyung / Kim, Han Suk / Song, Mi Kyoung / Choi, Chang Won

Cytogenetic and genome research

2019 Volume 158, Issue 4, Page(s) 184–191

Abstract: 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 ... ...

Abstract	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. Atrial tachycardia and polyhydramnios, which are important prenatal features for CS, were observed in 4 and 5 patients, respectively. The distinctive coarse facial appearances of the patients and presence of deep palmoplantar creases supported the clinical diagnosis of CS, which was confirmed by HRAS sequence analysis. Extremely poor postnatal growth was observed in all 5 patients. Further, all patients exhibited cardiac abnormalities; left ventricular hypertrophy and hypertrophic cardiomyopathy were observed in 3 patients. All 5 patients suffered from airway problems; 3 of them required intubation right after birth, and 2 of them received tracheostomy. One patient with a p.Gly12Ser mutation was diagnosed with retroperitoneal rhabdomyosarcoma alveolar type at the age of 5 years. Consistent with previous reports, both patients with p.Gly12Cys mutations died within the first year of life due to cardiopulmonary failure. Our study summarizes the characteristics of these 5 Korean patients with CS and, along with previous studies, provides clues for genotype-phenotype correlation in patients with CS.
MeSH term(s)	Child ; Child, Preschool ; Costello Syndrome/genetics ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype ; Republic of Korea
Language	English
Publishing date	2019-08-09
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000502045
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Zs.A 512: Show issues

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Article: Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome

Choi, Naye / Ko, Jung Min / Shin, Seung Han / Kim, Ee Kyung / Kim, Han Suk / Song, Mi Kyoung / Choi, Chang Won

Cytogenetic and Genome Research

2019 Volume 158, Issue 4, Page(s) 184–191

Institution	Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea Department of Pediatrics, Seoul National University Boondang Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
Abstract	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. Atrial tachycardia and polyhydramnios, which are important prenatal features for CS, were observed in 4 and 5 patients, respectively. The distinctive coarse facial appearances of the patients and presence of deep palmoplantar creases supported the clinical diagnosis of CS, which was confirmed by HRAS sequence analysis. Extremely poor postnatal growth was observed in all 5 patients. Further, all patients exhibited cardiac abnormalities; left ventricular hypertrophy and hypertrophic cardiomyopathy were observed in 3 patients. All 5 patients suffered from airway problems; 3 of them required intubation right after birth, and 2 of them received tracheostomy. One patient with a p.Gly12Ser mutation was diagnosed with retroperitoneal rhabdomyosarcoma alveolar type at the age of 5 years. Consistent with previous reports, both patients with p.Gly12Cys mutations died within the first year of life due to cardiopulmonary failure. Our study summarizes the characteristics of these 5 Korean patients with CS and, along with previous studies, provides clues for genotype-phenotype correlation in patients with CS.
Keywords	Costello syndrome ; Genotype-phenotype correlation ; <italic>HRAS</italic> ; RAS/MAPK pathway
Language	English
Publishing date	2019-08-09
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Original Article
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000502045
Database	Karger publisher's database

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