Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

The genetic spectrum of genetic kidney diseases (GKD) and the application of genetic diagnoses to patient care were assessed by whole exome sequencing (WES) of the DNA of 172 pediatric or adult patients with various kidney diseases. WES diagnosed genetic diseases in 63 (36.6%) patients. The diagnostic yields in patients with glomerulopathy were 33.8% (25/74 pts) due to variants in 10 genes, 58.8% (20/34) in patients with tubulointerstitial disease due to variants in 18 genes, 33.3% (15/45) in patients with cystic disease/ciliopathy due to variants in 10 genes, 18.2% (2/11) in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) due to variants in two genes, and 12.5% (1/8) in patients with end stage kidney disease (ESKD). The diagnosis rate was high in patients aged <1-6 years (46-50.0%), and low in patients aged ≥40 years (9.1%). Renal phenotype was reclassified in 10 (15.9%) of 63 patients and clinical management altered in 10 (15.9%) of 63 patients after genetic diagnosis. In conclusion, these findings demonstrated the diagnostic utility of WES and its effective clinical application in patients, with various kinds of kidney diseases, across the different age groups.

Characteristics of pediatric rhabdomyolysis and the associated risk factors for acute kidney injury: a retrospective multicenter study in Korea.

BACKGROUND: The clinical features of pediatric rhabdomyolysis differ from those of the adults with rhabdomyolysis; however, multicenter studies are lacking. This study aimed to investigate the characteristics of pediatric rhabdomyolysis and reveal the risk factors for acute kidney injury (AKI) in such cases. METHODS: This retrospective study analyzed the medical records of children and adolescents diagnosed with rhabdomyolysis at 23 hospitals in South Korea between January 2007 and December 2016. RESULTS: Among 880 patients, those aged 3 to 5 years old composed the largest subgroup (19.4%), and all age subgroups were predominantly male. The incidence of AKI was 11.3%. Neurological disorders (53.6%) and infection (39.0%) were the most common underlying disorder and cause of rhabdomyolysis, respectively. The median age at diagnosis in the AKI subgroup was older than that in the non-AKI subgroup (12.2 years vs. 8.0 years). There were no significant differences in body mass index, myalgia, dark-colored urine, or the number of causal factors between the two AKI-status subgroups. The multivariate logistic regression model indicated that the following factors were independently associated with AKI: multiorgan failure, presence of an underlying disorder, strong positive urine occult blood, increased aspartate aminotransferase and uric acid levels, and reduced calcium levels. CONCLUSIONS: Our study revealed characteristic clinical and laboratory features of rhabdomyolysis in a Korean pediatric population and highlighted the risk factors for AKI in these cases. Our findings will contribute to a greater understanding of pediatric rhabdomyolysis and may enable early intervention against rhabdomyolysis-induced AKI.

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

BACKGROUND: This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. METHODS: Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members. RESULTS: Nine patients from nine unrelated Korean families were included in the study and evaluated. WES identified eight different conditions in these patients, i.e., autosomal dominant tubulointerstitial kidney disease associated with UMOD mutation; recurrent urinary stones associated with APRT deficiency; Ayme-Gripp syndrome associated with MAF mutation; short rib-thoracic dysplasia associated with IFT140 mutation; renal coloboma syndrome associated with PAX2 mutations; idiopathic infantile hypercalcemia associated with CYP24A1 mutation; and hypomagnesemia associated with TRPM mutation. Eleven different mutations, including seven novel mutations, were identified, i.e., four truncating mutations, six missense mutations, and one splice-acceptor variant. After genetic confirmation, strategies for the management of the following: medications, donor selection for renal transplantation, and surveillance for extra-renal manifestations were altered. In addition, genetic counseling was provided for the patients and their family members with respect to family member screening for affected but yet unidentified patients and future reproductive planning. CONCLUSION: As WES can effectively identify ultra-rare genetic renal diseases, facilitate the diagnosis process, and improve patient care, it is a good approach to enable a better understanding of ultra-rare conditions and for the establishment of appropriate counseling, surveillance, and management strategies.

The effect of hidden female smoking on the relationship between smoking and cardiovascular disease.

BACKGROUND: Smoking is a known risk factor for cardiovascular morbidity and mortality, but several Korean studies have shown differing results on the association of current smoking status and the risk of cardiovascular disease (CVD). The aim of the present study was to investigate the association between smoking status and CVD (myocardial infarction and stroke) using national representative populationbased samples. The aim was also to investigate the effects of hidden smokers on the association between CVD and smoking. METHODS: Data were acquired from 28,620 participants (12,875 men and 15,745 women), age 19 years or older, who participated in the Korea National Health and Nutrition Examination Survey (KNHANES) conducted from 2008 to 2016. RESULTS: The multivariable logistic regression analysis showed that ex-smoking status was correlated with CVD when self-reported (odds ratio [OR]: 1.62; 95% confidence interval [CI]: 1.20-2.19) and for survey-cotinine verified-smoking status (OR: 1.57; 95% CI: 1.20-2.19). Interestingly, the present study showed current smoking was not significantly associated with CVD. For the effect of sex on smoking and CVD, self-reported and survey-cotinine-verified ex-smoking status were correlated with CVD in males (OR: 1.45; 95% CI: 1.04-2.04 and OR: 1.43; 95% CI: 1.02-2.02) and in females (OR: 2.74; 95% CI: 1.59-4.71 and OR: 2.92; 95% CI: 1.64-5.18). The ratios of cotinine-verified to self-reported smoking rates were 1.95 for women and 1.08 for men. CONCLUSIONS: In the current study, while ex-smoking status was significantly associated with CVD, current smoking status was not. Female ex-smoking status had a higher adjusted odds ratio for CVD than males compared to non-smoking status. An effect of hidden female smoking was also found on the association between smoking status and CVD in Korean adults.

Acute kidney injury in pediatric patients with rhabdomyolysis.

PURPOSE: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children. METHODS: Medical records of 39 Korean children, who were newly diagnosed with rhabdomyolysis from January 2008 to December 2015, were retrospectively analyzed. The diagnosis was made from the medical history, elevated serum creatinine kinase level >1,000 IU/L, and plasma myoglobin level >150 ng/mL. Patients with muscular dystrophy and myocardial infarction were excluded. RESULTS: The median patient age at diagnosis was 14.0 years (range, 3-18 years), and the male to female ratio was 2.5. The most common presenting symptom was myalgia (n=25, 64.1%), and 14 patients (35.9%) had rhabdomyolysis-induced AKI. Eighteen patients (46.2%) had underlying diseases, such as epilepsy and psychotic disorders. Ten of these patients showed rhabdomyolysis-induced AKI. The common causes of rhabdomyolysis were infection (n=12, 30.7%), exercise (n=9, 23.1%), and trauma (n=8, 20.5%). There was no difference in the distribution of etiology between AKI and non-AKI groups. Five patients in the AKI group showed complete recovery of renal function after stopping renal replacement therapy. The median length of hospitalization was 7.0 days, and no mortality was reported. Compared with the non-AKI group, the AKI group showed higher levels of peak creatinine kinase and myoglobin, without statistical significance. CONCLUSION: The clinical characteristics of pediatric rhabdomyolysis differ from those observed in adult patients. Children with underlying diseases are more vulnerable to rhabdomyolysis-induced AKI. AKI more likely develops in the presence of a high degree of albuminuria.

Pediatric renovascular hypertension: Treatment outcome according to underlying disease.

BACKGROUND: Renovascular hypertension (RVH) accounts for 5-10% of pediatric hypertension, and can be associated with underlying disease involving other organs. The purpose of this study was to evaluate the clinical characteristics and assess the treatment outcomes of Korean pediatric patients with RVH. METHODS: The medical records of 25 Korean pediatric patients with RVH were retrospectively reviewed. RESULTS: Twenty-four patients had underlying disease, and the most common cause was moyamoya disease (MMD; n = 10; 40%). Of 10 patients with MMD, seven had RVH prior to MMD. All patients required antihypertensive medication as the initial treatment and 22 patients subsequently underwent percutaneous transluminal angioplasty (PTA). The majority of patients with MMD had ostial lesions on angiography. Eight patients had favorable outcomes after the first PTA. One patient received nephrectomy, and two patients received bypass surgery because of restenosis after PTA and technical failure of PTA, respectively. During follow up, blood pressure was well-controlled in nine patients, but only four patients were able to discontinue medication. Eight patients had target-organ damage of the brain, heart, and retina at the time of initial diagnosis, and five patients developed chronic kidney disease during follow up. CONCLUSION: The most common cause of RVH in Korean children is MMD, and RVH caused by MMD with an ostial lesion is associated with poor PTA outcomes. Angioplasty alone does not appear to control blood pressure effectively in MMD patients, and combined treatment is necessary to prevent target organ damage.

A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome.

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 BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis.

Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging. Inflammatory condition and severe hypertension in TA can cause PRES. We report of a 5-year-old girl with presumed TA who presented with PRES and chronic total occlusion in the renal artery. The findings on magnetic resonance imaging suggested PRES. Left nephrectomy was performed for total occlusion of the left renal artery, and the confirmatory diagnosis of TA was based on the pathologic findings of the renal artery.

Dental implants with internal versus external connections: 5-year post-loading results from a pragmatic multicenter randomised controlled trial.

PURPOSE: To evaluate advantages and disadvantages of identical implants with internal or external connections. MATERIALS AND METHODS: One hundred and twenty patients with any type of edentulism (single tooth, partial and total edentulism), requiring one implant-supported prosthesis were randomly allocated in two equal groups to receive either implants with an external connection (EC) or implants of the same type with an internal connection (IC) (EZ Plus, MegaGen Implant, Gyeongbuk, South Korea), at four centres. Due to slight differences in implant design and components, IC implants were platformswitched while EC were not. Patients were followed for 5 years after initial loading. Outcome measures were prosthesis/implant failures, any complication, marginal bone level changes and clinician preference, assessed by blinded outcome assessors. RESULTS: Sixty patients received 96 EC implants and 60 patients received 107 IC implants. Three patients dropped out with four EC implants and five patients with ten IC implants, but all remaining patients were followed up to 5-year post-loading. One prosthesis supported by EC implants and two by IC implants failed (P = 0.615, difference = -0.02, 95% CI: -0.08 to 0.04). One EC implant failed versus three IC implants in two patients (P = 0.615, difference = -0.02, 95% CI: -0.08 to 0.04). Ten complications occurred in 10 EC patients versus nine complications in 9 IC patients (P = 1.000, difference = 0.01, 95% CI: -0.13 to 0.15). There were no statistically significant differences for prosthesis and implant failures and complications between the different connection types. Five years after loading, there were no statistically significant differences in marginal bone level estimates between the two groups (difference = 0.14 mm, 95% CI: -0.28 to 0.56, P (ancova) = 0.505) and both groups lost bone from implant placement in a statistically significant way: 1.13 mm for the EC implants and 1.21 mm for the IC implants. Two operators had no preference and two preferred IC implants. CONCLUSIONS: Within the limitations given by the difference in neck design and platform switching between EC and IC implants, 5-year post-loading data did not show any statistically significant differences between the two connection types, therefore clinicians could choose whichever they preferred.

Metabolic features and renal outcomes of urolithiasis in children.

AIM: The incidence of pediatric urolithiasis has increased over the last century because of dietary changes, metabolic abnormalities, climate change, and genitourinary abnormalities. Data on pediatric urolithiasis in non-endemic countries are limited. The aim of this study was to evaluate the clinical findings and metabolic etiology of urolithiasis in Korean children. MATERIAL AND METHODS: The medical records of 73 Korean children who were newly diagnosed with urolithiasis from January 2010 to December 2013 were retrospectively analyzed. Evaluation of metabolic risk factors, including hypercalciuria, hyperuricosuria, hypomagnesuria, hyperoxaluria, and hypocitraturia, required analysis of 24-h urine specimens or, alternatively, for infants and toddlers, the solute-creatinine ratio in spot urine. RESULTS: The male-to-female ratio of the included patients was 1.3:1. The median age at diagnosis was 10.1 years, and the patients were divided into two age groups with pre-school-age children (n = 27, 37.0%) and school-age children (n = 46, 63.0%). While flank pain was more common in school-age children, incidentally detected or urinary tract infection (UTI)-associated urolithiasis was more common in pre-school-age children. Eight patients (11.0%) had renal function deterioration associated with urolithiasis, and three patients (4.1%) progressed to chronic kidney disease. Metabolic abnormalities according to urine chemistry were found in 30 patients (41.1%), including hypercalciuria in 21.9%, hyperuricosuria in 11.0%, hypomagnesuria in 4.1%, hyperoxaluria in 1.4%, hypocitraturia in 1.4%, and cystinuria in 1.4%. CONCLUSION: We suggest that school-age children with renal colic and pre-school-age children with UTI should be evaluated for urolithiasis. Additionally, the evaluation for metabolic risk factors is important in order to prevent recurrence and renal insufficiency.

Fluid overload and outcomes in neonates receiving continuous renal replacement therapy.

BACKGROUND: Continuous renal replacement therapy (CRRT) has emerged as the modality of choice for the management of high-risk neonates with acute kidney injury (AKI), inborn errors of metabolism and multi-organ dysfunction. The aim of this study was to evaluate fluid overload (FO) and investigate the factors associated with outcomes in neonates undergoing CRRT. METHODS: We retrospectively reviewed the medical records of 34 neonates with AKI who were admitted to the neonatal intensive care unit (NICU) of Samsung Medical Center, Seoul, Republic of Korea between January 2007 and December 2014 where they underwent at least 24 h of CRRT. RESULTS: The survival rates of patients with an FO of ≥30 % at the time of CRRT initiation were lower than those of patients with an FO of <30 % at the same time-point. Univariate Cox regression analysis revealed that a higher percentage FO at CRRT initiation and decreased urine output at the end of CRRT were associated with mortality, and multivariate Cox regression analysis indicated that mortality was associated with decreased urine output at the end of CRRT. Univariate linear regression analysis revealed that the length of hospital stay was associated with higher levels of serum creatinine at CRRT initiation, longer stay in the NICU prior to initiation of CRRT, longer duration of CRRT and lower body weight at the time of NICU admission. CONCLUSIONS: Neonates with a higher percentage FO and higher levels of serum creatinine at CRRT initiation showed poor outcomes. Early initiation of CRRT before the development of severe FO or azotemia might improve the outcomes of neonates requiring CRRT.

D-penicillamine-induced ANA (+) ANCA (+) vasculitis in pediatric patients with Wilson's disease.

Anti-neutrophil cytoplasmic antibodies (ANCA) are associated with systemic vasculitis. The pathophysiology of ANCA-associated vasculitis (AAV) has not been clearly proven, and drug-induced ANCA-associated vasculitis has been reported. Wilson's disease is an inborn error of copper metabolism caused by a mutation in the copper transporting gene ATP7B, and traditional treatment is based on copper chelation with agents such as D-penicillamine. There have been rare reports that prolonged D-penicillamine therapy might cause adverse renal events such as membranous nephropathy and minimal change disease, but it is questionable if D-penicillamine induces ANCA-associated vasculitis. We describe 2 patients with Wilson's disease treated with D-penicillamine who presented with ANCA (+) vasculitis and renal involvement. The 2 patients also showed positive results for antinuclear antibody (ANA). Their kidney biopsy findings were compatible with crescentic/necrotizing glomerulonephritis, pauci-immune type. After diagnosis of AAV, D-penicillamine was stopped. Patients were then treated with plasmapheresis and immunosuppressants, including methylprednisolone pulse therapy and intravenous cyclophosphamide. One patient progressed to end-stage renal disease and the other showed persistent proteinuria. These cases suggest that D-penicillamine may induce ANA (+) ANCA (+) vasculitis with severe renal involvement in pediatric patients, and plasmapheresis combined with immunosuppressant should be considered.

Tacrolimus for children with refractory nephrotic syndrome: a one-year prospective, multicenter, and open-label study of Tacrobell®, a generic formula.

BACKGROUND: Cyclosporine A and tacrolimus (TAC) are often used as a second-line treatment for children with refractory nephrotic syndrome (NS). This study was undertaken to investigate the efficacy and safety of Tacrobell®, a locally produced generic form of TAC. METHODS: This study was a one-year prospective, open-label, single-arm, multicenter trial. Fourty-four children with steroid-dependent NS (SDNS) and 33 children with steroid-resistant NS (SRNS) were enrolled. The primary endpoints were defined as the remission rates, whereas the secondary endpoints were recognized as the duration of remission and adverse effects of TAC. RESULTS: After one-year treatment, 34 (77.3%) of the 44 patients with SDNS were in complete remission, and 6 (13.6%) were in partial remission. Nineteen (43.2%) patients did not relapse during the study; for those who did relapse, the mean duration of remission was 4.6±2.9 months. The number of relapse episodes during the study period (0.90 per patient-year) was significantly lower than that in the preceding year (2.8 per patient-year). After treatment for 3 and 6 months, 12 (36.4%) of the 33 patients with SRNS were in remission, and after treatment for 12 months, the number of patients had increased to 13 (39.4%). The mean time to achieve remission was 4.0±3.2 months. After remission (duration, 3.7±2.7 months), 12 (54.5%) of 22 patients relapsed. The fasting blood glucose and blood pressure levels during the therapy were similar to those at the time of study entry. CONCLUSIONS: Treatment with Tacrobell® was effective and safe for children with refractory NS. The efficacy of this generic form of TAC was better than that of the original TAC formula.

Dental implants with internal versus external connections: 1-year post-loading results from a pragmatic multicenter randomised controlled trial.

PURPOSE: To evaluate advantages and disadvantages of identical implants with internal or external connections. MATERIALS AND METHODS: Two hundred patients with any type of edentulism (single tooth, partial and total edentulism) requiring one implant-supported prosthesis were randomly allocated in two equal groups to receive either implants with an external connection (EC) or implants of the same type but with an internal connection (IC) (EZ Plus, MegaGen Implant, Gyeongbuk, South Korea) at seven centres. Due to slight differences in implant design/components, IC implants were platform switched while EC were not. Patients were followed for 1 year after initial loading. Outcome measures were prosthesis/implant failures, any complication, marginal bone level changes and clinician preference assessed by blinded outcome assessors. RESULTS: One hundred and two patients received 173 EC implants and 98 patients received 154 IC implants. Six patients dropped out with 11 EC implants and 3 patients with four IC implants, but all remaining patients were followed up to 1-year post-loading. Two centres did not provide any periapical radiographs. Two prostheses supported by EC implants and one supported by IC implants failed (P = 1.000, difference = -0.01, 95% CI: -0.05 to 0.04). Three EC implants failed in 3 patients versus two IC implants in 1 patient (P = 0.6227, difference = -0.02, 95% CI: -0.07 to 0.03). EC implants were affected by nine complications in 9 patients versus six complications of IC implants in 6 patients (P = 0.5988, difference = -0.02, 95% CI: -0.10 to 0.06). There were no statistically significant differences for prosthesis/implant failures and complications between the implant systems. One year after loading, there were no statistically significant differences in marginal bone level changes between the two groups (difference = 0.24, 95% CI: -0.01 to 0.50, P = 0.0629) and both groups lost bone from implant placement in a statistically significant manner: 0.98 mm for the EC implants and 0.85 mm for the IC implants. Five operators had no preference and two preferred IC implants. CONCLUSIONS: Within the limitations given by the difference in neck design and platform switching between EC and IC implants, preliminary short-term data (1-year post-loading) did not show any statistically significant differences between the two connection types, therefore clinicians could choose whichever one they preferred.

Plasmaphresis therapy for pulmonary hemorrhage in a pediatric patient with IgA nephropathy.

IgA nephropathy usually presents as asymptomatic microscopic hematuria or proteinuria or episodic gross hematuria after upper respiratory infection. It is an uncommon cause of end-stage renal failure in childhood. Pulmonary hemorrhage associated with IgA nephropathy is an unusual life-threatening manifestation in pediatric patients and is usually treated with aggressive immunosuppression. Pulmonary hemorrhage and renal failure usually occur concurrently, and the pulmonary manifestation is believed to be caused by the same immune process. We present the case of a 14-year-old patient with IgA nephropathy who had already progressed to end-stage renal failure in spite of immunosuppression and presented with pulmonary hemorrhage during oral prednisone treatment. His lung disease was comparable to diffuse alveolar hemorrhage and was successfully treated with plasmapheresis followed by oral prednisone. This case suggests that pulmonary hemorrhage may develop independently of renal manifestation, and that plasmapheresis should be considered as adjunctive therapy to immunosuppressive medication for treating IgA nephropathy with pulmonary hemorrhage.

Microalbuminuria in normal Korean children.

PURPOSE: Although microalbuminuria is known as a predictor of clinical nephropathy and cardiomyopathy, few studies have investigated the incidence and reference range of microalbuminuria in healthy children. This study aimed to establish a reference range and to study the age-related trend for spot urine microalbumin/creatinine ratio in a Korean pediatric population. MATERIALS AND METHODS: 352 healthy children were studied from July 2007 through March 2010. Height, weight, serum creatinine, spot urine microalbumin/creatinine ratio, and glomerular filtration rate (GFR) were obtained for each subject. We divided the study population into 5 groups according to age, and compared the spot urine microalbumin/creatinine ratio with other variables using one-way analysis of variance (ANOVA), regression analysis and Pearson's correlation analysis. RESULTS: In this study, the data showed that the spot urine microalbumin/creatinine ratio decreased with age: 1-12 months, 22.72 ± 13.80 mg/mmol (2SD: 3.33-54.40 mg/mmol); 13-28 months, 16.34 ± 9.58 mg/mmol (2SD: 3.16-35.19 mg/mmol); 29-48 months, 13.12 ± 9.74 mg/mmol (2SD: 3.01-41.57 mg/mmol); 4-6 years, 10.58 ± 8.13 mg/mmol (2SD: 0.00-30.19 mg/mmol); and 7-19 years, 5.13±5.44 mg/mmol (2SD: 0.45-14.45 mg/mmol). The spot urine microalbumin/creatinine ratio showed correlation with age, height, height z-score, weight, weight z-score, GFR, body mass index (BMI) and body surface area (BSA). CONCLUSION: The spot urine microalbumin/creatinine ratio in normal Korean children decreased with age. This ratio could potentially be used to establish reference ranges and cutoff values for Korean children and to predict nephropathy and cardiomyopathy.

Surveillance and control of rubella in the republic of Korea from 2001 to 2009: the necessity for enhanced surveillance to monitor congenital rubella syndrome.

OBJECTIVES: The aim of this study was to review the epidemiologic data of rubella and congenital rubella syndrome (CRS) supplied by surveillance systems from 2001 to 2009 and to propose measures to improve the quality of the surveillance system in the Republic of Korea. METHODS: The epidemiological data for rubella and CRS cases reported to the Korea Centers for Disease Control and Prevention from 2001 to 2009 were retrospectively reviewed, and insurance reimbursement data from the Korea National Health Insurance Review Agency were collected for comparison. RESULTS: The number of yearly reported rubella cases to the Korea Centers for Disease Control and Prevention from 2001 to 2009 was 128, 24, 8, 24, 15, 12, 35, 30, and 36, respectively. The occurrence of rubella shifted to a slightly higher age group during the 9-year period, i.e. from 0-9 years to 10-19 years. Among the 309 reported rubella cases, three were confirmed cases of CRS. In addition, according to data sourced from Health Insurance Review Agency, 24, 19, 19, 9, and 5 CRS cases were reported for medical insurance reimbursement from 2005 to 2009, respectively. CONCLUSION: According to available surveillance data, the reported cases of rubella and CRS were not high, but a more detailed surveillance with emphasis on susceptible women of childbearing age is necessary for better monitoring and control of rubella and CRS in the Republic of Korea.