Focal segmental glomerulosclerosis (FSGS) in children, which is a kind of nephrotic syndrome showing steroid resistance, usually progresses to a substantial number of end stage renal disease (ESRD). Although the pathogenesis of primary FSGS is unclear, several recent studies have reported that FSGS is associated with circulating immune factors such as soluble urokinase-type plasminogen activator receptor (suPAR) or anti-CD40 autoantibody. We report a successfully treated case of a 19-year-old female patient who experienced a recurrence of primary FSGS. After the diagnosis of FSGS, the patient progressed to ESRD and received a kidney transplantation (KT). Three days later, recurrence was suspected through proteinuria and hypoalbuminemia. She has been performed plasmapheresis and high dose methylprednisolone pulse therapy and shown remission status without increasing proteinuria for four years after KT. In conclusion, strong immunosuppressive therapy may be helpful for a good prognosis of recurrent FSGS, suppressing several immunologic circulating factors related disease pathogenesis.
Child ; Diagnosis ; Female ; Glomerulosclerosis, Focal Segmental* ; Humans ; Hypoalbuminemia ; Immunologic Factors ; Kidney Failure, Chronic ; Kidney Transplantation ; Methylprednisolone* ; Nephrotic Syndrome ; Plasmapheresis* ; Prognosis ; Proteinuria ; Recurrence ; Urokinase-Type Plasminogen Activator ; Young Adult

PURPOSE: The American Society for Apheresis provides clinical guidelines for therapeutic apheresis in adults, but there are no guidelines for children. This study aimed to analyze the effect of therapeutic plasma exchange (TPE) in pediatric patients with various kidney diseases in Korea. METHODS: We retrospectively reviewed the data of 16 children (up to 18 years of age) who were admitted to Severance Children's Hospital with refractory kidney disease. All patients received TPE between 1994 and 2016. Clinical and laboratory characteristics such as age, weight, sex, change in blood urea nitrogen (BUN), and creatinine level before and after TPE, and complications after TPE were analyzed. RESULTS: The mean age and weight of the 16 patients at the time of TPE was 11.3±4.0 years and 34.6±17.5 kg, respectively. The BUN level was 35.4 mg/dL before TPE and significantly decreased to 21.5 mg/dL (P=0.025) at 1 week and 20.5 mg/dL (P=0.01) at 1 month after TPE. The creatinine level significantly decreased from 1.20 mg/dL before TPE to 0.90 mg/dL (P=0.02) at 1 week after TPE. Four complications (hypovolemia, anemia, hypocalcemia, and thrombocytopenia) were reported, but were not fatal. CONCLUSION: Our findings suggest that TPE is an effective therapeutic modality in children with refractory kidney disease and can be indicated for the treatment of various kidney diseases.
Adult ; Anemia ; Blood Component Removal ; Blood Urea Nitrogen ; Child ; Creatinine ; Humans ; Hypocalcemia ; Kidney Diseases* ; Kidney* ; Korea* ; Pediatrics ; Plasma Exchange* ; Plasma* ; Retrospective Studies

PURPOSE: The American Society for Apheresis provides clinical guidelines for therapeutic apheresis in adults, but there are no guidelines for children. This study aimed to analyze the effect of therapeutic plasma exchange (TPE) in pediatric patients with various kidney diseases in Korea. METHODS: We retrospectively reviewed the data of 16 children (up to 18 years of age) who were admitted to Severance Children's Hospital with refractory kidney disease. All patients received TPE between 1994 and 2016. Clinical and laboratory characteristics such as age, weight, sex, change in blood urea nitrogen (BUN), and creatinine level before and after TPE, and complications after TPE were analyzed. RESULTS: The mean age and weight of the 16 patients at the time of TPE was 11.3±4.0 years and 34.6±17.5 kg, respectively. The BUN level was 35.4 mg/dL before TPE and significantly decreased to 21.5 mg/dL (P=0.025) at 1 week and 20.5 mg/dL (P=0.01) at 1 month after TPE. The creatinine level significantly decreased from 1.20 mg/dL before TPE to 0.90 mg/dL (P=0.02) at 1 week after TPE. Four complications (hypovolemia, anemia, hypocalcemia, and thrombocytopenia) were reported, but were not fatal. CONCLUSION: Our findings suggest that TPE is an effective therapeutic modality in children with refractory kidney disease and can be indicated for the treatment of various kidney diseases.
Adult ; Anemia ; Blood Component Removal ; Blood Urea Nitrogen ; Child ; Creatinine ; Humans ; Hypocalcemia ; Kidney Diseases* ; Kidney* ; Korea* ; Pediatrics ; Plasma Exchange* ; Plasma* ; Retrospective Studies

PURPOSE: Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis is difficult to anticipate. The present study investigates whether distinct patient characteristics are associated with mitochondrial DNA (mtDNA) mutation in LS patients. METHODS: We retrospectively analyzed data from patients diagnosed with LS at our hospital who were assessed using genomic sequencing of mtDNA. A subgroup analysis was performed to divide patients according to the mtDNA sequencing results. RESULTS: Among the 85 patients enrolled, 18 had mtDNA mutations. Most patients had lactic acidosis and a lactate/pyruvate ratio above 20, indicating respiratory chain abnormalities. In the subgroup analysis, the mutation group had a significantly higher female-to-male ratio, alanine level, ocular involvement, and midbrain and medulla abnormalities on magnetic resonance imaging (MRI). CONCLUSION: The subgroup analysis indicates that mtDNA sequencing is recommended for female patients, or those who exhibit ocular involvement, high alanine levels, or MRI findings with lesions in the midbrain and medulla.
Acidosis, Lactic ; Alanine ; Brain Stem ; Central Nervous System ; DNA, Mitochondrial* ; Electron Transport ; Female ; Humans ; Leigh Disease* ; Magnetic Resonance Imaging ; Mesencephalon ; Mitochondria ; Neurodegenerative Diseases ; Prognosis ; Retrospective Studies

OBJECTIVE: The qualitative test of fibronectin of the cervices and vaginae as well as the C-reactive protein test of pregnant mothers with symptoms of preterm labor were performed in an attempt to examine clinical validity of these factors as predictable elements of preterm delivery. METHODS: This prospective study was conducted on ninety (90) single pregnancies of gestational age from 24 weeks and 1 day to 34 weeks and 6 days admitted to the hospital with symptoms of preterm labor, which occurred in the period from October 1, 1999 through March 31, 2001. Among these pregnant women, those with a uterine contraction rate of 4 per hour or greater and uterine dilatation of less than 3 cm without PROM were used as the subjects. The qualitative test of fetal fibronectin (ROM check, Adeza Biochemical, USA) of the cervices and vaginae as well as the C-reactive protein test by means of latex agglutination method using maternal blood were performed on these subjects. Of the 90 mothers that participated in this study, 15 dropped out and 75 underwent the qualitative test of fetal fibronectin and C-reactive protein test. The results of each test and the combined tests of both at preterm delivery (1) within 1 week, (2) prior to 34 weeks and (3) prior to 37 weeks were compared and analyzed. RESULTS: 1. 22.4% (15/67) resulted in preterm delivery prior to 34 weeks while 48.0% (36/75) ended up with preterm delivery prior to 37 weeks. 2. In predicting preterm delivery within 7 days and prior to 37 weeks after the test, the fetal fibronectin and C-reactive protein qualitative test were statistically insignificant. The combined tests of both fetal fibronectin and C-reactive protein were statistically insignificant in predicting preterm delivery within 7 days (Odds ratio of 4.2; 95% CI 0.7-23.3 p=0.199) and prior to 37 weeks (Odds ratio of 5.3; 95% CI 0.6-48.3 p=0.116). 3. In predicting preterm delivery prior to 34 weeks, fetal fibronectin and C-reactive protein qualitative test were insignificant statistically. Nevertheless, these two tests in combination showed a statistical significance for preterm delivery prior to 34 weeks: It showed a sensitivity of 26.7% (4/15), a specificity of 95.6% (43/45), a positive predictability of 66.7% (4/6), and negative predictability of 79.6% (43/53) [Odds ratio of 7.8; 95% CI 1.3-48.3, p=0.03]. CONCLUSION: Specificity and positive predictive value improved when the combined fetal fibronectin and C-reactive protein tests in pregnancies with symptoms of preterm labor were performed for preterm delivery before 34 weeks. Consequently, this is a clinically valid predictor of preterm delivery before the 34th week.
Agglutination ; C-Reactive Protein* ; Dilatation ; Female ; Fibronectins* ; Gestational Age ; Humans ; Latex ; Mothers ; Obstetric Labor, Premature ; Pregnancy ; Pregnant Women ; Premature Birth* ; Prospective Studies ; Sensitivity and Specificity ; Uterine Contraction ; Vagina

Background: Recent studies have indicated that hyperuricemia is associated with metabolic syndrome and cardiovascular diseases. We aimed to examine the association between sitting time and hyperuricemia in Korean adults. Methods: This study included 16,535 adults aged ≥19 years who participated in the 2016–2018 Korea National Health and Nutrition Examination Survey. Hyperuricemia was defined as a serum uric acid level of ≥7.0 mg/dL in men and ≥6.0 mg/dL in women. The odds ratios and 95% confidence intervals of hyperuricemia according to sitting time were calculated using a multivariable logistic regression analysis. Results: The mean serum uric acid levels were significantly higher in participants with sitting times of ≥5 hours/day than those with sitting times of <5 hours/day in total participants, males, and females. The proportion of hyperuricemia was also significantly higher in participants with sitting times of ≥5 hours/day than those with sitting times of <5 hours/day in the total participants and males. Before and after adjusting for confounding variables, sitting times of ≥5 hours/day were associated with increased odds of hyperuricemia as compared with sitting times of <5 hours/day in total participants. Conclusion Our findings suggest that longer sitting time is associated with risk of hyperuricemia, and sitting time is an independent factor for hyperuricemia in Korean adults.

A 51-year-old man was being admitted to the emergency department with chest pains. He had a history of acute myocardial infarction (MI) on two prior occasions and was successfully treated with drug eluting stents. He was diagnosed with 3 consecutive events of acute MI in 3 different vessels. The consecutive events of acute MI in different vessels are a very rare case. He did not have risk factors, such as coagulation abnormality, clopidogrel resistance, patient's compliance and vessel abnormality, except for his cigarette smoking. We reported the first case with 3 consecutive events of acute MI in each 3 vessels during a long-term interval.
Chest Pain ; Coronary Vessels ; Drug-Eluting Stents ; Emergencies ; Humans ; Middle Aged ; Myocardial Infarction* ; Risk Factors ; Smoking ; Thrombosis

A 56-year-old male presented with resting dyspnea and chest discomfort for several years. During transthoracic and transesophageal echocardiography, a spontaneously healed membranous type ventricular septal defect (VSD) with malaligned interventricular septal wall, aneurysmal changes, a subaortic ridge and a double-chambered right ventricle (DCRV) was observed. When combined with DCRV, VSD with malalignment between the outlet and trabecular septa was associated with tetralogy of Fallot. The subaortic ridge was due to turbulent flow caused by the malalignment-type VSD. The VSD with malaligned interventricular septal wall can be developed after aneurismal changes of a perimembranous VSD. We report here in the unusual case of a 56-year-old patient who had a pathology complex comprising DCRV, subaortic ridge, spontaneously healed membranous type VSD with malaligned interventricular septal wall, and survived with surgical treatment.
Aneurysm ; Dyspnea ; Echocardiography, Transesophageal ; Heart Septal Defects, Ventricular ; Heart Ventricles ; Humans ; Male ; Middle Aged ; Tetralogy of Fallot ; Thorax