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1.
Article in English | MEDLINE | ID: mdl-38738274

ABSTRACT

Hematuria is a relatively common condition among school-aged children. Because international guidelines for asymptomatic hematuria in children are unavailable, developing practical guidelines for the diagnosis and management of asymptomatic hematuria based on scientific evidence while considering real-world practice settings, values, and patient and physician preferences is essential. The Korean Society of Pediatric Nephrology developed clinical guidelines to address key questions regarding the diagnosis and management of asymptomatic hematuria in children.

2.
Clin Exp Nephrol ; 2024 Mar 13.
Article in English | MEDLINE | ID: mdl-38478191

ABSTRACT

BACKGROUND: This study aimed to analyze genotype-phenotype correlations in children with Gitelman syndrome (GS). METHODS: This multicenter retrospective study included 50 Korean children diagnosed with SLC12A3 variants in one or both alleles and the typical laboratory findings of GS. Genetic testing was performed using the Sanger sequencing except for one patient. RESULTS: The median age at the diagnosis was 10.5 years (interquartile range, 6.8;14.1), and 41 patients were followed up for a median duration of 5.4 years (interquartile range, 4.1;9.6). A total of 30 different SLC12A3 variants were identified. Of the patients, 34 (68%) had biallelic variants, and 16 (32%) had monoallelic variants on examination. Among the patients with biallelic variants, those (n = 12) with the truncating variants in one or both alleles had lower serum chloride levels (92.2 ± 3.2 vs. 96.5 ± 3.8 mMol/L, P = 0.002) at onset, as well as lower serum potassium levels (3.0 ± 0.4 vs. 3.4 ± 0.3 mMol/L, P = 0.016), and lower serum chloride levels (96.1 ± 1.9 vs. 98.3 ± 3.0 mMol/L, P = 0.049) during follow-up than those without truncating variants (n = 22). Patients with monoallelic variants on examination showed similar phenotypes and treatment responsiveness to those with biallelic variants. CONCLUSIONS: Patients with GS who had truncating variants in one or both alleles had more severe electrolyte abnormalities than those without truncating variants. Patients with GS who had monoallelic SLC12A3 variants on examination had almost the same phenotypes, response to treatment, and long-term prognosis as those with biallelic variants.

3.
Sci Rep ; 13(1): 6827, 2023 04 26.
Article in English | MEDLINE | ID: mdl-37100867

ABSTRACT

The genotype-phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype-phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups (P < 0.001, hazard ratio (HR) 2.8) and splicing and truncating groups (P = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups (P < 0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2 years. The kidney survival was significantly different between the non-truncating and truncating groups (P = 0.006, HR 5.7). Our findings support the presence of genotype-phenotype correlation not only in male patients but also in female patients with XLAS.


Subject(s)
Nephritis, Hereditary , Renal Insufficiency , Male , Female , Humans , Nephritis, Hereditary/genetics , Phenotype , Retrospective Studies , Mutation , Collagen Type IV/genetics , Genetic Association Studies
4.
Int J Psychol ; 57(5): 634-643, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35576099

ABSTRACT

Previous research demonstrates that self-distancing helps in regulating negative emotions. Furthermore, adopting a distanced perspective when referring to the self has been shown to be a simple and effective way to regulate emotion. Moreover, previous research has demonstrated several mechanisms whereby the distanced perspective eventually leads to the decrease in negative emotions. Building on this literature, the present research proposed that a rational point of view induced by adopting a distanced perspective would play a critical role in this process. The results from two studies supported the proposition. Specifically, in recalling (Study 1) and writing (Study 2) about anger-provoking events, those who adopted a distanced perspective were more likely to take a rational point of view when reflecting on the event than did those who adopted a self-immersed perspective. Furthermore, such differences in the rational perspective were associated with the corresponding differences in negative affect.


Subject(s)
Anger , Emotions , Emotions/physiology , Humans , Mental Recall , Writing
5.
Pediatr Nephrol ; 37(3): 625-631, 2022 03.
Article in English | MEDLINE | ID: mdl-34448022

ABSTRACT

BACKGROUND: We aimed to elucidate the relationship between environmental exposure to lead (Pb), mercury (Hg), and cadmium (Cd) which were measured in blood and the kidney function of adolescents. METHODS: Cross-sectional study was conducted using data from the Korea National Health and Nutrition Examination Survey from 2010 to 2017. Statistical procedures were performed to analyze the Korean population of adolescents aged 12-17 years. Regression analysis was performed, and covariates included age, sex, body mass index, smoking status, and other heavy metal levels. RESULTS: The median blood levels of Pb, Hg, and Cd were 1.165 µg/dL, 1.805 µg/L, and 0.304 µg/L, respectively. Adolescents with Pb levels in the highest quartile (> 1.454 µg/dL) had a 3.35 mL/min/1.73 m2-lower estimated glomerular filtration rate using creatinine (eGFRcr) (95% confidence interval (CI), -6.03 to -0.68 mL/min/1.73 m2) compared to those in the lowest quartile (< 0.856 µg/dL) in the unadjusted model. However, there was no association between the blood Pb level and eGFRcr in the adjusted model. Levels of Hg and Cd were not associated with eGFRcr in either model. High blood levels of all three heavy metals were not associated with the risk of hypertension. CONCLUSIONS: There was no association between increased blood levels of Pb, Hg, and Cd; eGFRcr; and increased risk of hypertension in Korean adolescents who were exposed to relatively low levels of heavy metals.


Subject(s)
Hypertension , Mercury , Metals, Heavy , Adolescent , Cadmium/adverse effects , Cadmium/analysis , Cross-Sectional Studies , Environmental Exposure/adverse effects , Humans , Hypertension/epidemiology , Kidney , Lead/adverse effects , Mercury/adverse effects , Mercury/analysis , Metals, Heavy/adverse effects , Nutrition Surveys , Republic of Korea/epidemiology
6.
J Korean Med Sci ; 36(12): e84, 2021 Mar 29.
Article in English | MEDLINE | ID: mdl-33783146

ABSTRACT

BACKGROUND: We performed a systematic review and meta-analysis to evaluate the incidence of breast milk-acquired cytomegalovirus (CMV) infection in preterm infants born to CMV-seropositive mothers. METHODS: PubMed, Embase, and Cochrane Library databases were searched using the terms: ("breast feeding" or "breast milk" or "human milk" or "breast") and ("HCMV" or "cytomegalovirus") and ("infant, extremely premature" or "premature birth" or "newborn" or "neonate" or "low birth weight" or "very low birth weight" or "premature" or "preterm infant"). Studies that had information on CMV status and breast feeding were included in the meta-analysis. RESULTS: A total of 2,502 newborns from 19 studies were included in this meta-analysis. The rate of postnatally acquired CMV infection among breastfed infants with CMV-seropositive mothers was 16.5% (95% confidence interval [CI], 0.10-0.26; P < 0.001). The infection rate was 26% with fresh breast milk, 8% with a combined diet of fresh and freeze-thawed breast milk, and 11% with freeze-thawed breast milk. Among cases where the CMV status of breast milk was determined, CMV shedding into breast milk occurred in 80.5% (95% CI, 0.71-0.87; P < 0.001) of CMV seropositive mothers. The breast milk-acquired CMV infection rate among infants fed CMV-positive breast milk was 20.7% (95% CI, 0.14-0.30; P < 0.001). CONCLUSION: This meta-analysis examined the rate of breast milk-acquired CMV infections in preterm infants with CMV-seropositive mothers; the CMV infection rate was higher in preterm infants fed fresh breast milk. Until further data are available, we cautiously suggest the use of freeze-thawed breast milk, rather than fresh breast milk, for preterm infants or very low birth weight infants.


Subject(s)
Cytomegalovirus Infections/transmission , Infectious Disease Transmission, Vertical/statistics & numerical data , Breast Feeding , Cytomegalovirus/isolation & purification , Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/virology , Freezing , Humans , Incidence , Infant , Infant, Premature , Milk, Human/chemistry , Milk, Human/virology
7.
Korean J Transplant ; 35(4): 262-267, 2021 Dec 31.
Article in English | MEDLINE | ID: mdl-35769858

ABSTRACT

Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by complement dysregulation that may involve the extra-renal system. Without appropriate prophylactic treatment, aHUS commonly recur after kidney transplantation (KT). In contrast, cytomegalovirus (CMV) infection is common in KT recipients and may affect various organ systems. Herein, we report a case of recurrent aHUS complicated by CMV enteritis. This 17-year-old KT recipient with aHUS having a CFH mutation was admitted to the hospital for gastric pain and vomiting. With worsening hemogram, recurrence of aHUS involving the gastrointestinal (GI) system was suspected. Upon treatment with anti-C5 antibody, the patient's blood counts soon improved, but her GI symptoms did not. Esophagogastroduodenoscopy revealed multiple ulcers in the duodenum with pathologic findings consistent with aHUS and CMV enteritis; however, she did not have CMV antigenemia despite these findings. Treatment with ganciclovir resolved GI symptoms within 7 days. This case shows that recurrence of aHUS is often induced by intercurrent infection, and common infections after allograft transplantation, such as CMV, should always be suspected and confirmed for a proper treatment, particularly because CMV enteritis may not accompany CMV antigenemia.

8.
Pediatr Nephrol ; 36(3): 701-709, 2021 03.
Article in English | MEDLINE | ID: mdl-32888043

ABSTRACT

BACKGROUND: Children with nephrotic syndrome (NS) are at an increased risk of acute kidney injury (AKI) and the incidence of AKI in this population is reportedly increasing. This study aimed to investigate the incidence, clinical profiles, and risk factors of AKI in hospitalized children with NS through a nationwide study. METHODS: This retrospective multicenter study included 14 pediatric nephrology centers in Korea. From 2013 to 2017, a total of 814 patients with idiopathic NS were cared for at participating centers. Among them, 363 patients were hospitalized for NS and investigated in this study. RESULTS: A total of 363 children with NS were hospitalized 574 times. AKI occurred in 93 admissions (16.2%) of 89 patients: 30 (32.3%) stage 1; 24 (25.8%) stage 2; and 39 (41.9%) stage 3. Multivariate logistic regression analysis showed that longer disease duration, lower albumin level, and methylprednisolone pulse treatment were significantly associated with AKI development in hospitalized children with NS. AKI was associated with a longer hospital stay than non-AKI (median 10 vs. 7 days, P = 0.001). Among 93 admissions, 85 (91.4%) episodes recovered from AKI without complication, whereas 6 (6.5%) progressed to advanced chronic kidney disease (CKD). CONCLUSIONS: AKI is not uncommon in hospitalized children with NS, and its incidence in this nationwide study was 16.2%. Risk factors for AKI in hospitalized children with NS include longer disease duration, lower albumin level, and methylprednisolone pulse therapy. Pediatric NS patients with these characteristics should be under more strict scrutiny for the occurrence of AKI. Graphical abstract.


Subject(s)
Acute Kidney Injury , Nephrotic Syndrome , Acute Kidney Injury/epidemiology , Acute Kidney Injury/etiology , Albumins , Child , Child, Hospitalized , Humans , Incidence , Methylprednisolone , Nephrotic Syndrome/complications , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/epidemiology , Retrospective Studies , Risk Factors
9.
J Korean Med Sci ; 35(32): e283, 2020 Aug 17.
Article in English | MEDLINE | ID: mdl-32808512

ABSTRACT

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 system (RAS) blockade during the early stages of fetal development or due to autosomal recessive mutation of genes in the RAS pathway. A boy born at 33+1 weeks due to cord prolapse was found to be anuric and hypotensive. Pregnancy was complicated by severe oligohydramnios from gestational age 28+4 weeks. Abdominal sonography revealed diffuse globular enlargement of both kidneys with increased cortical parenchymal echogenicity. Infantogram showed a narrow thoracic cage and skull X-ray showed large fontanelles and wide sutures suggestive of ossification delay. Basal plasma renin activity was markedly elevated and angiotensin-converting enzyme was undetectable. Despite adequate use of medications, peritoneal dialysis, and respiratory support, he did not recover and expired on the 23rd day of life. At first, autosomal recessive polycystic kidney disease was suspected, but severe oligohydramnios along with refractory hypotension, anuria, skull ossification delay and high renin levels made RTD suspicious. ACE gene analysis revealed compound heterozygous pathogenic variations of c.1454.dupC in exon 9 and c.2141dupA in exon 14, confirming RTD. Based on our findings, we propose that, although rare, RTD should be suspected in patients with severe oligohydramnios and refractory hypotension.


Subject(s)
Hypotension/diagnosis , Kidney Tubules, Proximal/abnormalities , Urogenital Abnormalities/diagnosis , Exons , Female , Heart Rate , Heterozygote , Humans , Hypotension/complications , Infant, Newborn , Infant, Premature , Kidney/diagnostic imaging , Male , Oligohydramnios/diagnosis , Peptidyl-Dipeptidase A/genetics , Polymorphism, Single Nucleotide , Pregnancy , Pregnancy Complications , Ultrasonography , Urogenital Abnormalities/complications , Urogenital Abnormalities/genetics
10.
J Clin Med ; 9(7)2020 Jun 30.
Article in English | MEDLINE | ID: mdl-32629965

ABSTRACT

Immunoglobulin A nephropathy (IgAN) is one of the most common primary glomerulopathies diagnosed in children and adolescents. This study aimed to evaluate the clinical features in and outcomes of pediatric IgAN over the last 30 years. Patients who were diagnosed before age of 18 at 20 centers in Korea were evaluated retrospectively. Of the 1154 patients (768 males, 386 females) with a median follow-up of 5 years, 5.6% (n = 65) progressed to stage 3-5 chronic kidney disease (CKD). The 10- and 20-year CKD-free survival rates were 91.2% and 75.6%, respectively. Outcomes did not differ when comparing those in Korea who were diagnosed prior to versus after the year 2000. On multivariate analysis, combined asymptomatic hematuria and proteinuria as presenting symptoms and decreased renal function at the time of biopsy were associated with progression to CKD, while remission of proteinuria was negatively associated with this outcome. Patients who presented with gross hematuria or nephrotic syndrome tended toward positive outcomes, especially if they ultimately achieved remission. While remission of proteinuria might imply that the disease is inherently less aggressive, it also can be achieved by management. Therefore, more aggressive management might be required for pediatric-onset IgAN.

11.
Ann Pediatr Endocrinol Metab ; 25(2): 104-111, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32615690

ABSTRACT

PURPOSE: To establish age/sex-specific reference intervals for serum uric acid and to examine the associations between serum uric acid level and metabolic syndrome (MetS) and its components in Korean children and adolescents. METHODS: We analyzed data for 1,349 subjects aged 10 to 19 years from the Korea National Health and Nutrition Examination Survey 2016-2017. RESULTS: The mean uric acid levels were 5.9±1.3 mg/dL (interquartile range, 5.0-6.8 mg/dL) in males and 4.6±0.9 mg/dL (interquartile range, 3.9-5.2 mg/dL) in females. The mean uric acid level increased significantly from 10-13 years of age in males, but not in females. The overall prevalence of MetS was 5.9% (7.3% in males and 4.3% in females; P=0.022). The prevalences of MetS in the lowest, second, third, and highest quartiles of uric acid level were 4.4%, 3.3%, 6.1%, and 15.2%, respectively, in males (P for trend <0.001) and 1.9%, 0.0%, 4.1%, and 10.9%, respectively, in females (P for trend <0.001). Compared with the lowest quartile of uric acid level, the odds ratio (with 95% confidence interval) for MetS in the highest quartile was 2.897 (1.140-7.361) in males and 5.173 (1.459-18.342) in females. Subjects in the highest quartile exhibited increased risk for abdominal obesity and low high-density lipoprotein cholesterol in both sexes. CONCLUSION: Serum uric acid level is positively associated with MetS and its components abdominal obesity and low high-density lipoprotein cholesterol.

12.
Pediatr Nephrol ; 35(11): 2183-2189, 2020 11.
Article in English | MEDLINE | ID: mdl-32561994

ABSTRACT

BACKGROUND: Typical hemolytic uremic syndrome (HUS) causes acute kidney injury (AKI) and serious sequelae of chronic kidney disease (CKD) in some. Hyperuricemia is a common finding in typical HUS that may contribute to kidney damage. We explored whether aggressive management of hyperuricemia with rasburicase could improve outcomes in AKI patients with typical HUS. METHODS: We retrospectively analyzed medical records of children with typical HUS admitted to a tertiary center between 2005 and 2017. We compared clinical outcomes of hospitalization and 1-year post-discharge between those with rasburicase treatment (n = 13) and those without (controls, n = 29). RESULTS: With rasburicase treatment, hyperuricemia corrected more rapidly (median 36 vs. 120 h, p < 0.001), and hospital stays were shorter (median 9 vs. 12 days, p = 0.003) than in the controls. There was no difference in dialysis requirement. At 1-year post-discharge, the proportion of patients with impaired kidney function (estimated glomerular filtration rate < 90 mL/min/1.73 m2) was lower in the rasburicase group (7.7% vs. 41.4%, p = 0.036) than in the controls. Hypertension and proteinuria tended to be more common in the controls than in the rasburicase group. Collectively, long-term renal sequelae of impaired kidney function, proteinuria, or hypertension at a 1-year follow-up was less common in the rasburicase group than in the controls (7.7% vs. 62.1%; p = 0.001). CONCLUSIONS: Children with typical HUS treated with rasburicase had shorter hospital stays and less long-term sequelae at 1-year post-discharge than those who were not treated with rasburicase. These results support the use of rasburicase to prevent CKD in pediatric patients with typical HUS-associated AKI. Graphical Abstract.


Subject(s)
Acute Kidney Injury/prevention & control , Hemolytic-Uremic Syndrome/drug therapy , Hyperuricemia/drug therapy , Acute Kidney Injury/etiology , Case-Control Studies , Child , Glomerular Filtration Rate/drug effects , Hemolytic-Uremic Syndrome/complications , Humans , Hyperuricemia/complications , Length of Stay , Renal Insufficiency, Chronic/etiology , Renal Insufficiency, Chronic/prevention & control , Retrospective Studies , Urate Oxidase
13.
Kidney Blood Press Res ; 44(5): 1300-1305, 2019.
Article in English | MEDLINE | ID: mdl-31522186

ABSTRACT

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestations, with central nervous system involvement being the most frequent. We described the clinical course and management of aHUS in an infant, that was caused by a complement 3 (C3) gene mutation with severe extrarenal manifestations. CASE PRESENTATION: A 4-month-old girl visited our hospital for jaundice and petechiae. Laboratory tests revealed microangiopathic hemolytic anemia, thrombocytopenia, and hyperazotemia. She was diagnosed with aHUS with a C3 p.E1160K mutation. Daily fresh-frozen plasma (FFP) therapy was administered; however, she experienced the severe extrarenal manifestations of pulmonary hemorrhage and gastrointestinal bleeding. With aggressive treatment, supportive care, and daily FFP transfusion, the patient recovered and was discharged after 72 days of hospital stay, on a regular FFP transfusion. Four months after diagnosis, she was switched to eculizumab treatment. Twenty months have passed since then and she has been relapse-free until now. CONCLUSION: aHUS is rare but has a devastating course if not properly treated. Severe extrarenal manifestations, such as pulmonary hemorrhage and gastrointestinal bleeding, can develop in aHUS caused by a C3 mutation. In our case, long-term management with eculizumab resulted in relapse-free survival.


Subject(s)
Atypical Hemolytic Uremic Syndrome/complications , Complement C3/genetics , Female , Humans , Infant , Mutation
14.
Kidney Res Clin Pract ; 38(3): 347-355, 2019 Sep 30.
Article in English | MEDLINE | ID: mdl-31434167

ABSTRACT

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 or unsterile water. While this disease was considered to have practically been eradicated with the improvement in public health, we encountered several cases of AKI associated with Yersinia infection. METHODS: We retrospectively collected data from medical records of patients with suspected Y. pseudotuberculosis infection who visited Seoul National University Children's Hospital in 2017. RESULTS: There were nine suspected cases of Yersinia infection (six males and three females; age range 2.99-12.18 years). Among them, five cases occurred in May, and seven patients were residing in the metropolitan Seoul area. Three patients had history of drinking mountain water. Every patient first presented with fever for a median of 13 days, followed by gastrointestinal symptoms and oliguria. Imaging studies revealed mesenteric lymphadenitis, terminal ileum wall thickening, and increased renal parenchymal echogenicity. Creatinine levels increased to 5.72 ± 2.18 mg/dL. Urinalysis revealed sterile pyuria, proteinuria, and glycosuria. Oliguria continued for 4 to 17 days, and two patients required dialysis; however, all of them recovered from AKI. Mucocutaneous manifestations developed later. In the diagnostic work-up, Yersinia was isolated from the stool culture in one patient. Anti-Yersinia immunoglobulin (Ig) A and IgG were positive in 6 patients. CONCLUSION: Y. pseudotuberculosis infection is an infrequent cause of interstitial nephritis presenting with AKI. When a patient presents with fever, gastroenteritis, and AKI not resolving despite hydration, the clinician should suspect Y. pseudotuberculosis infection.

15.
Pediatr Nephrol ; 34(11): 2399-2407, 2019 11.
Article in English | MEDLINE | ID: mdl-31270617

ABSTRACT

BACKGROUND: Extended-spectrum-beta-lactamase (ESBL)-producing bacteria are an increasingly important cause of urinary tract infections (UTIs) worldwide. We evaluated clinical characteristics and associated risk factors of UTIs in young children according to ESBL-producing status and relapse rates. METHODS: All urinary culture results in patients younger than 2 years old were assessed, and only children with febrile UTIs from gram-negative bacterial infections were reviewed. RESULTS: Of 845 episodes evaluated, 146 (17.3%) were caused by ESBL-positive bacteria. Significant differences were observed in previous UTIs, use of antibiotics or history of hospitalization within previous 3 months, and underlying urinary abnormalities between the ESBL UTI and non-ESBL UTI groups. After 2 weeks of treatment completion, UTI relapse occurred in 2.7% of children in the ESBL group and 1.1% of children in the non-ESBL group (P = 0.13). In the ESBL UTI group, relapse rate was not significantly different between patients treated with susceptible antibiotics and those treated with non-susceptible but clinically effective antibiotics. CONCLUSIONS: Previous history of UTI, antibiotic treatment, or hospitalization within previous 3 months and underlying disease are risk factors for ESBL UTI in children under 24 months of age. However, relapse rate was < 3% regardless of in vitro susceptibility of the treating antibiotics, as long as the antibiotics were clinically effective. We cautiously propose that we may continue the use of initial empirical antibiotics when a definite clinical response is observed, although further study is necessary to confirm the findings of this study.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Gram-Negative Bacteria/isolation & purification , Gram-Negative Bacterial Infections/drug therapy , Urinary Tract Infections/drug therapy , Anti-Bacterial Agents/pharmacology , Female , Gram-Negative Bacteria/drug effects , Gram-Negative Bacteria/metabolism , Gram-Negative Bacterial Infections/epidemiology , Gram-Negative Bacterial Infections/microbiology , Hospitalization/statistics & numerical data , Humans , Infant , Male , Microbial Sensitivity Tests , Recurrence , Retrospective Studies , Risk Factors , Treatment Outcome , Urinary Tract Infections/epidemiology , Urinary Tract Infections/microbiology , beta-Lactamases/metabolism
16.
J Korean Med Sci ; 34(24): e173, 2019 Jun 24.
Article in English | MEDLINE | ID: mdl-31222986

ABSTRACT

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 ANCA-associated vasculitis that manifests as a pulmonary-renal syndrome with a mild renal manifestation. A 13-year-old girl who has been taking D-penicillamine for five years under the diagnosis of Wilson disease visited the emergency room because of hemoptysis and dyspnea. She had diffuse pulmonary hemorrhage, microscopic hematuria, and proteinuria. Myeloperoxidase ANCA was positive, and a renal biopsy revealed pauci-immune crescentic glomerulonephritis. Under the diagnosis of D-penicillamine-induced ANCA-associated vasculitis, D-penicillamine was switched to trientine, and the patient was treated with plasmapheresis, glucocorticoid, cyclophosphamide, and mycophenolate mofetil. Pulmonary hemorrhage improved rapidly followed by the disappearance of the hematuria and proteinuria five months later.


Subject(s)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/diagnosis , Glomerulonephritis/diagnosis , Hemorrhage/diagnosis , Lung Diseases/diagnosis , Penicillamine/adverse effects , Adolescent , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/etiology , Female , Hepatolenticular Degeneration/drug therapy , Humans , Kidney/pathology , Penicillamine/therapeutic use , Tomography, X-Ray Computed
17.
18.
J Korean Med Sci ; 34(1): e4, 2019 Jan 07.
Article in English | MEDLINE | ID: mdl-30618512

ABSTRACT

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 abnormalities, and characteristic "kinky" hair. In addition, various types of urological complications are frequent in MD because of underlying connective tissue abnormalities. In this study, we studied the clinical features and outcomes of MD, focusing on urological complications. METHODS: A total of 14 unrelated Korean pediatric patients (13 boys and 1 girl) with MD were recruited, and their phenotypes and genotypes were analyzed by retrospective review of their medical records. RESULTS: All the patients had early-onset neurological deficit, including developmental delay, seizures, and hypotonia. The girl patient showed normal serum copper and ceruloplasmin levels as well as milder symptoms. Mutational analysis of the ATP7A gene revealed 11 different mutations in 12 patients. Bladder diverticula was the most frequent urological complication: 8 (57.1%) in the 14 patients or 8 (72.7%) in the 11 patients who underwent urological evaluation. Urological imaging studies were performed essentially for the evaluation of accompanying urinary tract infections. Four patients had stage II chronic kidney disease at the last follow-up. CONCLUSION: Urologic problems occurred frequently in MD, with bladder diverticula being the most common. Therefore, urological imaging studies and appropriate management of urological complications, which may prevent or reduce the development of urinary tract infections and renal parenchymal damage, are required in all patients with MD.


Subject(s)
Diverticulum/etiology , Menkes Kinky Hair Syndrome/pathology , Urinary Bladder/abnormalities , Child, Preschool , Copper-Transporting ATPases/genetics , DNA Mutational Analysis , Diverticulum/diagnostic imaging , Female , Genotype , Humans , Male , Menkes Kinky Hair Syndrome/complications , Menkes Kinky Hair Syndrome/genetics , Phenotype , Prognosis , Retrospective Studies , Ultrasonography , Urinary Bladder/diagnostic imaging
19.
Korean J Pediatr ; 62(4): 144-147, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30376707

ABSTRACT

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 includes hypokalemia, metabolic alkalosis, and features secondary to the increased activation of the renin-angiotensin system without renal artery stenosis. We report a case of reninoma in a female adolescent with a typical clinical presentation, in which surgical removal of the tumor completely cured hypertension. We discuss here the clinical features, imaging studies, and immunohistochemical examination of the tumor used to establish the diagnosis of reninoma and for the management of the condition.

20.
Korean J Pediatr ; 61(11): 339-347, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30360040

ABSTRACT

Acute kidney injury (AKI) is characterized by abrupt deterioration of renal function, and its diagnosis relies on creatinine measurements and urine output. AKI is associated with higher morbidity and mortality, and is a risk factor for development of chronic kidney disease. There is no proven medication for AKI. Therefore, prevention and early detection are important. Physicians should be aware of the risk factors for AKI and should monitor renal function in high-risk patients. Management of AKI includes optimization of volume status and renal perfusion, avoidance of nephrotoxic agents, and sufficient nutritional support. Continuous renal replacement therapy is widely available for critically ill children, and this review provides basic information regarding this therapy. Long-term follow-up of patients with AKI for renal function, blood pressure, and proteinuria is recommended.

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