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Case Report
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene
Se Eun Lee, Yun Hye Jung, Kyoung Hee Han, Hyun Kyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(2):90-93.   Published online February 28, 2011

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and...

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
Se Eun Lee, Kyoung Hee Han, Yun Hye Jung, Hyun Kyung Lee, Hee Gyung Kang, Kyung Chul Moon, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2011;54(1):36-39.   Published online January 31, 2011

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided...

A case of Bartter syndrome type I with atypical presentations
Eun Hye Lee, Ju Sun Heo, Hyun Kyung Lee, Kyung Hee Han, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2010;53(8):809-813.   Published online August 31, 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset...

Original Article
Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome
Hee Yeon Cho, Hyun Jin Choi, So Hee Lee, Hyun Kyung Lee, Hee Kyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2009;52(11):1260-1266.   Published online November 15, 2009
Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment...
The Changes of Production of RANTES and Gro-α in Kawasaki Disease
Young Hwan Lee, Hyun Kyung Lee, Bo Hyeong Lee, Sun Yoon Jung, Hee Sun Kim, Sang Bum Lee
Clin Exp Pediatr. 2001;44(9):1002-1011.   Published online September 15, 2001
Purpose : Kawasaki disease is probably driven by abnormalities of the immune system after infectious insult. In this report, a clinical review with laboratory parameters and the changes of the plasma levels of chemokines(RANTES and Gro-α) was undertaken according to the clinical stage of Kawasaki disease. Methods : This investigation included 74 samples from 21 patients(10 boys, 11 girls; mean age, 27.8 months) with Kawasaki...
Clinical Analysis of Pediatric Death in Emergency Room
Bo Hyeong Lee, Mi Jung Kim, Hyun Kyung Lee, Young Hwan Lee, Kwang Hae Choi, Seok Hun Song, Sam Beom Lee, Byung Soo Do
Clin Exp Pediatr. 2001;44(9):987-991.   Published online September 15, 2001
Purpose : Sudden, unexpected pediatric death triggers acute grief in most survivors. In this study, we analyzed the pediatric death in emergency room in order to find out the factors for minimized unexpected pediatric death and increase awareness of these conditions. Methods : We performed a review on the records of 63 patients under the age of 16 years who died before and after...
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