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Nephrology (Genitourinary)
Genetic diagnosis of Alport syndrome
Hae Il Cheong
Clin Exp Pediatr. 2019;62(5):164-165.   Published online January 3, 2019
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
Nephrology (Genitourinary)
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S103-S106.   Published online November 30, 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III...

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...

Genetics and Metabolism
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members...

Nephrology (Genitourinary)
Bilateral iliac and popliteal arterial thrombosis in a child with focal segmental glomerulosclerosis
Kyoung Hee Han, Ji Youn Park, Seung-Kee Min, Il-Soo Ha, Hae Il Cheong, Hee Gyung Kang
Clin Exp Pediatr. 2016;59(5):242-245.   Published online May 31, 2016

Thromboembolic complications (TECs) are clinically important sequelae of nephrotic syndrome (NS). The incidence of TECs in children is approximately 2%–5%. The veins are the most commonly affected sites, particularly the deep veins in the legs, the inferior vena cava, the superior vena cava, and the renal veins. Arterial thrombosis, which is less common, typically occurs in the cerebral, pulmonary, and...

Review Article
Nephrotic syndrome: what's new, what's hot?
Hee Gyung Kang, Hae Il Cheong
Clin Exp Pediatr. 2015;58(8):275-282.   Published online August 21, 2015

While the incidence of nephrotic syndrome (NS) is decreasing in Korea, the morbidity of difficult-to-treat NS is significant. Efforts to minimize treatment toxicity showed that prolonged treatment after an initial treatment for 2-3 months with glucocorticosteroids was not effective in reducing frequent relapses. For steroid-dependent NS, rituximab, a monoclonal antibody against the CD20 antigen on B cells, was proven to...

Case Report
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong
Clin Exp Pediatr. 2015;58(4):148-153.   Published online April 22, 2015

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the...

Original Article
Outcomes of chronic dialysis in Korean children with respect to survival rates and causes of death
Hye Jin Chang, Kyoung Hee Han, Min Hyun Cho, Young Seo Park, Hee Gyung Kang, Hae Il Cheong, Il Soo Ha
Clin Exp Pediatr. 2014;57(3):135-139.   Published online March 31, 2014
Purpose

Adult Korean patients on chronic dialysis have a 9-year survival rate of 50%, with cardiovascular problems being the most significant cause of death. The 2011 annual report of the North American Pediatric Renal Trials and Collaborative Studies group reported 3-year survival rates of 93.4% and relatively poorer survival in younger patients.

Methods

In this study, we have reviewed data from Korean Pediatric...

Case Report
Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome
Hye Jin Chang, Hwa Young Kim, Jae Hong Choi, Hyun Jin Choi, Jae Sung Ko, Il Soo Ha, Hae Il Cheong, Yong Choi, Hee Gyung Kang
Clin Exp Pediatr. 2014;57(2):96-99.   Published online February 24, 2014

Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 types of Shiga toxin-producing enterohemorrhagic E. coli (EHEC) subtypes have...

Original Article
Intravenous fluid prescription practices among pediatric residents in Korea
Jiwon M. Lee, Younghwa Jung, Se Eun Lee, Jun Ho Lee, Kee Hyuck Kim, Ja Wook Koo, Young Seo Park, Hae Il Cheong, Il-Soo Ha, Yong Choi, Hee Gyung Kang
Clin Exp Pediatr. 2013;56(7):282-285.   Published online July 19, 2013
Purpose

Recent studies have established the association between hypotonic fluids administration and hospital-acquired hyponatremia in children. The present paper investigated the pattern of current practice in intravenous fluid prescription among Korean pediatric residents, to underscore the need for updated education.

Methods

A survey-based analysis was carried out. Pediatric residents at six university hospitals in Korea completed a survey consisting of four questions. Each...

Case Report
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations
Hunmin Kim, Hee Hwang, Hae Il Cheong, Hye Won Park
Clin Exp Pediatr. 2011;54(11):473-476.   Published online November 30, 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the...

A case of hemolytic uremic syndrome preceded by intussusception
Eun Young Ko, Joo Young Kim, Hye Jin Lee, Hyun Seung Lee, Ji Whan Han, Young Hoon Kim, Jin Tack Kim, Hae Il Cheong, Pil Sang Jang
Clin Exp Pediatr. 2011;54(4):176-178.   Published online April 30, 2011

Hemolytic-uremic syndrome (HUS) is the most common cause of acute renal failure in young children. It is classically characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and uremia. Further, not only is intussusception one of the differential diagnoses of HUS but it may also become a complication during disease progression. We report a case of HUS preceded by intussusception...

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...

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