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Original Article
Genetics and Metabolism
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
Min-Sun Kim, Ari Song, Minji Im, June Huh, I-Seok Kang, Jinyoung Song, Aram Yang, Jinsup Kim, Eun-Kyung Kwon, Eu-Jin Choi, Sun-Ju Han, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Clin Exp Pediatr. 2019;62(6):224-234.   Published online October 4, 2018

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean...
Case Report
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Clin Exp Pediatr. 2013;56(8):355-358.   Published online August 27, 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few...

Original Article
Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty
Doosoo Kim, Sung-Yoon Cho, Se-Hyun Maeng, Eun Sang Yi, Yu Jin Jung, Sung Won Park, Young Bae Sohn, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(12):481-486.   Published online December 20, 2012
Purpose

Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups.

Methods

The present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from...

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
Sung Won Park, Seung-Tae Lee, Young Bae Sohn, Sung Yoon Cho, Se-Hwa Kim, Su Jin Kim, Chi Hwa Kim, Ah-Ra Ko, Kyung-Hoon Paik, Jong-Won Kim, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(10):388-392.   Published online October 29, 2012
Purpose

Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP.

Methods

Genomic DNAs were obtained from 77...

Continuous renal replacement therapy in neonates weighing less than 3 kg
Young Bae Sohn, Kyung Hoon Paik, Hee Yeon Cho, Su Jin Kim, Sung Won Park, Eun Sun Kim, Yun Sil Chang, Won-Soon Park, Yoon-Ho Choi, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(8):286-292.   Published online August 23, 2012
Purpose

Continuous renal replacement therapy (CRRT) is becoming the treatment of choice for supporting critically ill pediatric patients. However, a few studies present have reported CRRT use and outcome in neonates weighing less than 3 kg. The aim of this study is to describe the clinical application, outcome, and complications of CRRT in small neonates.

Methods

A retrospective review was performed in 8...

Review Article
Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(7):224-231.   Published online July 17, 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion,...

Original Article
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(3):88-92.   Published online March 16, 2012
Purpose

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS...

The metabolic syndrome and body composition in childhood cancer survivors
Young Bae Sohn, Su Jin Kim, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Soo Hyun Lee, Keon Hee Yoo, Ki Woong Sung, Jae Hoon Chung, Hong Hoe Koo, Dong-Kyu Jin
Clin Exp Pediatr. 2011;54(6):253-259.   Published online June 30, 2011
Purpose

Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea.

Methods

We performed a retrospective review of...

Effects and adverse-effects of growth hormone therapy in children with Prader-Willi syndrome: A two year study
Su Jin Kim, Joong Bum Cho, Min Jung Kwak, Eun Kyung Kwon, Kyung Hoon Paik, Dong-Kyu Jin
Clin Exp Pediatr. 2008;51(7):742-746.   Published online July 15, 2008
Purpose : The objective of this study was to evaluate the effects and adverse side-effects of growth hormone (GH) therapy in children with Prader-Willi syndrome (PWS). Methods : Forty-one patients who had been treated with GH for more than two years (24 boys and 17 girls, mean age 7.3?.3 years during treatment initiation) were enrolled for this study. Results : After...
Case Report
A Case of in-utero Vesicoamniotic Shunting and Postnatal Vesicostomy in Very Low Birth Weight Baby with Posterior Urethral Valve Syndrome
Sung-Hye Kim, Jae-Won Shim, Yun-Shil Chang, Soon-Ha Yang, Kwan-Hyeun Park, Dong-Kyu Jin, Won-Soon Park
Clin Exp Pediatr. 2002;45(8):1038-1042.   Published online August 15, 2002
We present a case of in-utero vesicoamniotic shunting and postnatal vesicostomy in a very low birth weight baby with posterior urethral valve syndrome. He was diagnosed as posterior urethral valve at 24+5 weeks' gestation. Because of severe hydronephrosis and oligohydroamnios, the shunt was established by basket-shaped catheter at 27+0 weeks' gestation. After shunt, hydronephrosis improved. At 29+4 weeks' gestation, the...
Original Article
Medical Therapy in Children with Persistent Hyperinsulinemic Hypoglycemia of Infancy(PHHI)
Hyun-Jeong Kim, Mi-Jeong Kim, Hwa-Sook Shin, Jung-Sim Kim, Mie-Ryung Uhm, Si-Hwan Ko, Suk-Hyang Lee, Dong-Kyu Jin
Clin Exp Pediatr. 2000;43(2):253-259.   Published online February 15, 2000
Purpose : Persistent hyperinsulinemic hypoglycemia of infancy(PHHI), which is characterised by inappropriate insulin secretion in spite of hypoglycemia, needs urgent treatment to prevent cerebral hypoglycemic damage. Although pancreatectomy is the treatment of choice for PHHI, there are several complications which follow treatment. We suggest that aggressive medical therapy, when effective, is preferable to partial pancreatectomy. Methods : We evaluated 8 patients...
Case Report
A Case of Congenital Lipoid Adrenal Hyperplasia
Seo-Jeong Kim, Joo-Sik Choi, Kyu-Hyung Lee, Dong-Kyu Jin
Clin Exp Pediatr. 1996;39(4):567-571.   Published online April 15, 1996
Congenital lipoid adrenal hyperplasia is the most severe form of CAH, leading to impaired production of all steroid hormones including glucocorticoids, mineralocorticoid, and sex steroids. The affected individuals are all phenotypically female with a severe salt-losing syndrome that is fatal if steroid replacement is not begun immediately after birth. The lesion of this disorder has been suggested to be in...
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