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Review Article
Nephrology (Genitourinary)
X-linked hypophosphatemic rickets: from diagnosis to management
Eujin Park, Hee Gyung Kang
Clin Exp Pediatr. 2024;67(1):17-25.   Published online June 14, 2023
· X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects 1/20,000 people.
· XLH is caused by a loss-of-function mutation of the PHEX gene.
· Its main pathogenesis is elevated fibroblast growth factor-23 (FGF23) level.
· Burosumab, an FGF23 inhibitor, was developed in the early 2000s.
· Burosumab was approved in Korea in 2020 for XLH patients aged 1+ years with radiographic evidence of bone disease.
Editorial
Nephrology (Genitourinary)
Inhibition of the renin-angiotensin system during fetal kidney development
Eujin Park
Clin Exp Pediatr. 2021;64(3):121-122.   Published online September 22, 2020
· Fetal exposure to renin-angiotensin system (RAS) inhibitors leads to short- and long-term kidney complications.
· Women of reproductive age who are absolutely indicated for RAS inhibitors should be adequately informed of the risks for the duration of treatment.
Case Report
Reninoma: a rare cause of curable hypertension
Ji Hye Kim, Ji Hyun Kim, Myung Hyun Cho, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Kyung Chul Moon, Il-Soo Ha, Hae Il Cheong
Clin Exp Pediatr. 2019;62(4):144-147.   Published online October 29, 2018
The most common type of refractory hypertension found in children is secondary hypertension, which is a potentially curable disease. Reninoma, a renin-secreting juxtaglomerular cell tumor, is a rare cause of severe hypertension that is usually diagnosed in adolescents and young adults. Surgical resection of the tumor completely cures the hypertension of patients with reninoma. The typical clinical presentation of reninoma...
Original Article
Oncology
Posttransplantation lymphoproliferative disorder after pediatric solid organ transplantation: experiences of 20 years in a single center
Hyung Joo Jeong, Yo Han Ahn, Eujin Park, Youngrok Choi, Nam-Joon Yi, Jae Sung Ko, Sang Il Min, Jong Won Ha, Il-Soo Ha, Hae Il Cheong, Hee Gyung Kang
Clin Exp Pediatr. 2017;60(3):86-93.   Published online March 27, 2017
Purpose

To evaluate the clinical spectrum of posttransplantation lymphoproliferative disorder (PTLD) after solid organ transplantation (SOT) in children.

Methods

We retrospectively reviewed the medical records of 18 patients with PTLD who underwent liver (LT) or kidney transplantation (KT) between January 1995 and December 2014 in Seoul National University Children's Hospital.

Results

Eighteen patients (3.9% of pediatric SOTs; LT:KT, 11:7; male to female, 9:9) were diagnosed...

Case Report
Immunology
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9.   Published online November 30, 2016

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation...