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A Premature Baby with Severe Oligohydramnios and Hypotension: a Case Report of Renal Tubular Dysgenesis

Min J, Cho MH, Bae SP, Shin SH, Ha IS, Cheong HI, Kang HG

Renal tubular dysgenesis (RTD) is a rare fatal disorder in which there is poor development of proximal tubules, leading to oligohydramnios and the Potter sequences. RTD occurs secondary to renin-angiotensin...
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Severe Acute Kidney Injury with Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12

Cho CM, Cheong HI, Lee JW

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. A defect in the SLC22A12 genes, which encodes the renal uric acid transporter, URAT1, is...
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Pseudohypoaldosteronism Type 1 with a NovelMutation in the NR3C2 Gene: A Case Report

Kim YM, Choi IS, Cheong HI, Kim CJ, Yang EM

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type...
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Genetic tests in children with steroid-resistant nephrotic syndrome

Cheong HI

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease in children, and a considerable number of patients progress to end-stage renal disease. SRNS is a highly heterogeneous...
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Renal Syndromic Hearing Loss Is Common in Childhood-onset Chronic Kidney Disease

Kim JH, Lee DH, Lee Bj, Lim SH, Ahn YH, Kang HG, Ha IS, Cheong HI

Background: Hearing loss (HL) in children may adversely affect their development. HL is more prevalent in patients with chronic kidney disease (CKD) than in the general population. This study evaluated the...
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Consensus regarding diagnosis and management of atypical hemolytic uremic syndrome

Lee H, Kang E, Kang HG, Kim YH, Kim JS, Kim HJ, Moon KC, Ban TH, Oh SW, Jo SK, Cho H, Choi BS, Hong J, Cheong HI, Oh D

Thrombotic microangiopathy (TMA) is defined by specific clinical characteristics, including microangiopathic hemolytic anemia, thrombocytopenia, and pathologic evidence of endothelial cell damage, as well as the resulting ischemic end-organ injuries. A...
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Erratum: Post-Transplant Lymphoproliferative Diseases in Pediatric Kidney Allograft Recipients with Epstein-Barr Virus Viremia

Hyun H, Park E, Cho M, Min SI, Ha J, Kang HJ, Shin HY, Ha IS, Cheong HI, Ahn YH, Kang HG

The authors regret that there were errors in (Text/Table 1). This notice corrects on page 4 and page 5.
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Acute kidney injury associated with Yersinia pseudotuberculosis infection: Forgotten but not gone

Kim YK, Cho MH, Hyun HS, Park E, Ha IS, Cheong HI, Kang HG

BACKGROUND: Yersinia pseudotuberculosis is known to cause fever, gastroenteritis, or acute kidney injury (AKI). There have been several Y. pseudotuberculosis infection outbreaks to date associated with ingestion of contaminated food...
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Post-Transplant Lymphoproliferative Diseases in Pediatric Kidney Allograft Recipients with Epstein-Barr Virus Viremia

Hyun H, Park E, Cho M, Min SI, Ha J, Kang HJ, Shin HY, Ha IS, Cheong HI, Ahn YH, Kang HG

BACKGROUND: Post-transplant lymphoproliferative disease (PTLD) is one of the major complications of organ transplantation, especially in children with Epstein-Barr virus (EBV) viremia (EV). We performed a retrospective study to evaluate...
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Postinfectious Glomerulonephritis Associated with Pneumococcus and Influenza A Virus Infection in a Child: a Case Report and Literature Review

Huh H, Lee JK, Yun KW, Kang HG, Cheong HI

Postinfectious glomerulonephritis (PIGN) is most commonly caused by Streptococcus pyogenes in children, but PIGN associated with other pathogens has been described in the literature. A previously healthy 6-year-old boy was...
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A Pediatric Case of a D-Penicillamine Induced ANCA-associated Vasculitis Manifesting a Pulmonary-Renal Syndrome

Kang S, Cho MH, Hyun H, Kim JH, Ko JS, Kang HG, Cheong HI, Kim WS, Moon KC, Ha IS

D-penicillamine has been reported to cause antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis presenting as rapidly progressive glomerulonephritis or pulmonary-renal syndrome mostly in adults. We report a pediatric case of D-penicillamine induced...
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Genetic diagnosis of Alport syndrome

Cheong HI

No abstract available.
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Erratum: Correction of Error in Result: Urological Problems in Patients with Menkes Disease

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI

The authors regret that there was an important error in the results in Table 1; the ATP7A mutations detected in Patients 2 and 14 were incorrectly noted.
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Reninoma: a rare cause of curable hypertension

Kim JH, Kim JH, Cho MH, Park E, Hyun HS, Ahn YH, Kang HG, Moon KC, Ha IS, Cheong HI

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...
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Atypical Hemolytic Uremic Syndrome in a 13-year-old Lao Girl: A Case Report

Kedsatha P, Cheong HI, Choi Y

Atypical hemolytic uremic syndrome (aHUS), a rare form of thrombotic microangiopathy, is distinguished from the typical form by the absence of a preceding verotoxin-producing Escherichia coli infection. Notably, aHUS occurs...
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Primary Hyperoxaluria in Korean Pediatric Patients

Choe Y, Lee JM, Kim JH, Cho MH, Kim SH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI

BACKGROUND: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR ,...
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Urological Problems in Patients with Menkes Disease

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI

BACKGROUND: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue...
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A Case of an Ureteropelvic Junction Obstruction Caused by a Crossing Vessel

Kim MY, Im YJ, Hyun HS, Kang HG, Ha IS, Cheong HI, Park E

Ureteropelvic junction obstruction is one of the common causes of hydronephrosis in infancy and childhood. Most cases of ureteropelvic junction obstruction are diagnosed prenatally and are usually asymptomatic. Although less...
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Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families

Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and...
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Disseminated adenovirus infection in a 10-year-old renal allograft recipient

Lee B, Park E, Ha J, Ha IS, Cheong HI, Kang HG

Disseminated adenovirus infection can result in high mortality and morbidity in immunocompromised patients. Here, we report the case of a 10-year-old renal allograft recipient who presented with hematuria and dysuria....
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