Joo Hoon Lee

University of Ulsan, Ulsan, Ulsan, South Korea

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Publications (43)62.32 Total impact

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    ABSTRACT: 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 patientyear). 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.
    No preview · Article · Dec 2015 · World Journal of Pediatrics
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    ABSTRACT: Hepatorenal fibrocystic diseases (HRFCDs) are a group of monogenic disorders characterized by developmental abnormalities involving the liver and kidney. In this study, we performed genotype and phenotype analyses of children with HRFCDs to determine the distribution of underlying diseases. A total of 36 children with HRFCDs were recruited, with genetic tests being performed in 22 patients and 14 patients diagnosed clinically as having autosomal recessive polycystic kidney disease (ARPKD). In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). Renal function deteriorated faster in children with NPHP13. The main hepatic pathology was Caroli disease in the NPHP13 patients, while most other patients had Caroli syndrome or congenital hepatic fibrosis. Of note, three of four MKS3 patients had an accompanying choledochal cyst. No ARPKD patient had other organ involvement, while several NPHP13 patients had ocular and/or neurodevelopmental involvement. In contrast, all MKS3 patients had severe ocular and neurodevelopmental involvement. NPHP13 is a major disease in the HRFCD category, and thorough evaluation of its clinical features, including kidney, liver and other organ involvement, may aid in the differential diagnosis of HRFCD.
    No preview · Article · Aug 2015 · Pediatric Nephrology
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    ABSTRACT: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were confirmed by Sanger sequencing. We evaluated the expression of WDR19 in the biopsied kidney by immunohistochemistry in patients and controls. We detected three (3/48, 6.3 %) unrelated index cases with WDR19 mutations. One of the cases involved two siblings with the same mutation. Later, we detected an additional index case with a similar phenotype of kidney and liver involvement by Sanger sequencing of WDR19. The p.R1178Q mutation was common in all patients. All of the six affected patients from four families progressed to chronic kidney disease. Of note, all six patients had Caroli syndrome or disease. Immunohistochemistry for WDR19 showed localized expression along the luminal borders of the renal tubular epithelium in controls, whereas it showed diffuse cytoplasmic staining in the affected patients. Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. In this study, we visually validated the expression pattern of mutant WDR19 protein in the kidneys of NPHP 13 patients. More data are needed to identify the true frequency of p.R1178Q. Functional studies including transfection assay will provide solid grounds for the pathogenicity of each mutation.
    No preview · Article · Mar 2015 · Pediatric Nephrology
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    ABSTRACT: Atypical hemolytic uremic syndrome (aHUS) is a rare disease with a genetic predisposition. Few studies have evaluated the disease in Asian population. We studied a Korean pediatric cohort to delineate the clinical characteristics and genotypes. A multicenter cohort of 51 Korean children with aHUS was screened for mutations by targeted exome sequencing covering 46 complement related genes. Anti-complement-factor-H autoantibodies (anti-CFH) titers were measured. Multiplex ligation dependent probe amplification assay was performed to detect deletions in the complement factor-H related protein genes (CFHRs). We grouped the patients according to the etiology and compared the clinical features using the Mann-Whitney U test and chi-square test. Fifteen patients (Group A, 29.7%) had anti-CFH and mutations were detected in 11(Group B, 21.6%) patients, including one with combined mutations. Remaining 25(Group C, 49.0%) were neither-positive. Anti-CFH-association was more frequent than the world-wide prevalence. Group A showed older onset age than Group B, although did not significantly differ in the clinical manifestation. Group B showed worst renal outcome. Gene frequencies of homozygous CFHR1 deletion were 73.3%, 2.7% and 1% in Group A, Group B+C and the control, respectively. In our cohort, we observed a relatively high incidence of anti-CFH-association. Clinical outcomes largely conformed to the previous reports. Although the size is limited, this cohort provides a reassessment of clinicogenetic features of aHUS in Korean children. This article is protected by copyright. All rights reserved.
    Full-text · Article · Dec 2014 · Pediatrics International
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    ABSTRACT: Purposes To evaluate the mineral and bone disorders in children with chronic kidney disease (CKD) stage I to V predialysis. Methods Pediatric subcohort of KNOW-CKD (KoreaN cohort study for Outcome in patients With CKD) enrolled children (younger than 20 years) with CKD stage I-V (pre-dialysis) from five major pediatric nephrology centers in Korea and collected medical data associated with CKD-mineral and bone disorder. Results Total number of 300 patients (male:female=199:101) was included in this study. Serum phosphorus (mean ± standard deviation 4.89±0.75, 4.6±0.83, 4.63±0.85, 5.13±1.37, 5.35±1.2 from CKD stage I to V, p=0.0002), fibroblast growth factor (FGF)-23 (32.29±42.04, 41.33±41.00, 70.68±121.06, 67.9±66.95, 121.74±139.36, p=0.0030) and the prevalence of hyperphosphatemia (8.51%, 10.64%, 25.53%, 25.53%, 29.79%, p=0.010) increased as CKD progressed. Intact parathyroid hormone (iPTH) increased (40.84±40.37, 44.13±20.2, 78.93±65.21, 181.39±183.86, 313.85±324.95, p<0.001) and serum 1,25D3 level decreased (47.52±21.32, 37.43±12.26, 36.86±25.97, 28.29±15.81, 34.11±21.34, p<0.001) significantly as CKD aggravated. Serum iPTH (r=−0.608, p<0.0001) and FGF-23 (r=−0.4943, p<0.0001) showed negative correlation whereas 1,25D3 (r=0.3288, <0.0001) showed positive correlation with glomerular filtration rate. FGF-23 showed positive correlation with serum phosphorus (r=0.3342, p<0.0001), iPTH (r=0.3214, p<0.0001) and proteinuria (r=0.3609, p<0.0001), and negative correlation with urine phosphorus (r=−0.2597, p=0.0006). The prevalence of patients with increased alkaline phosphatase level increased significantly as CKD progressed (5.66%, 15.09%, 39.62%, 16.98%, 22.64%, p=0.042), which was due to increased prevalence of hyperparathyroidism (p<0.001). Active form vitamin D (0%, 3.77%, 11.88%, 40.74%, 68.89%, p<0.0001), calcium (2.13%, 0%, 9.90%, 4.44%, 62.22%, p<0.0001) and non-calcium phosphorous binders (0%, 0%, 0%, 0%, 13.33%, p<0.0001) were prescribed significantly more often in advanced CKD. Calcium x phosphorus was significantly increased in advanced CKD (11.59%, 17.39%, 28.26%, 21.01%, 21.74%, p=0.002). Conclusion As CKD progressed, hyperphosphatemia, hyperparathyroidism and 1,25D3 deficiency increased, serum FGF-23 level increased and urinary phosphorus excretion decreased in children with CKD stage I to V predialysis.
    Full-text · Article · Jun 2014
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    ABSTRACT: Continuous renal replacement therapy (CRRT) has become an essential modality for the care of critically ill pediatric patients who require renal support. However, experience with CRRT in the neonatal population is not common in Korea. In this study, we aimed to investigate the clinical features, outcomes, and complications of CRRT in neonates in a single neonatal intensive care unit (NICU).
    Preview · Article · Jan 2014
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    ABSTRACT: Primary renal artery aneurysm has been estimated to account for an incidence of 0.015-1% with associated morbidities including renovascular hypertension and rupture. Renovascular hypertension associated renal artery aneurysms in children is not a common disease. In patients with complicated renal vascular disease, renal autotransplantation has been used as an alternative to percutaneous transluminal angioplasty, which may be hazardous in these situations. We report a case of a renal artery aneurysm in a 13-year-old Korean child presenting hypertension detected during school health examination. Preoperative workup demonstrated a 2.8×2.1×1.9 cm saccular aneurysm in the right renal hilum that was not amendable to endovascular repair. A surgical strategy including extracorporeal renal artery reconstruction with autotransplantation was applied in order to restore renal artery anatomy and to treat renovascular hypertension. Immediately he complained of severe right flank pain and postoperative doppler sonography revealed lack of perfusion. On the 5th day after autotransplantation, the patient underwent a transplant nephrectomy. He was well postoperatively and was found to have a normal kidney function and stable blood pressure control without antihypertensive medication. This is the first pediatric case of renal artery aneurysm in Korea who underwent extracorporeal repair followed by autotransplantation failure. More pediatric cases with renal artery aneurysm should be reported to identify therapeutic outcome and long term prognosis.
    Preview · Article · Jan 2014 · Journal of the Korean Society of Pediatric Nephrology
  • Eun Gu Kang · Joo Hoon Lee · Young Seo Park
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    ABSTRACT: The aims of this study were to assess the clinical and laboratory profiles of chronic kidney disease-mineral bone disorder (CKD-MBD) and to assess the effects of treatment of active vitamin D analogs on severe hyperparathyroidism (SHPT) in pediatric patients on chronic peritoneal dialysis.
    No preview · Article · Jan 2014 · Journal of the Korean Society of Pediatric Nephrology
  • Joo Hoon Lee · Hae-Won Choi · Yoon Jung Lee · Young Seo Park
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    ABSTRACT: Although asymptomatic gross hematuria (GHU) is relatively common in children, its causes and clinical outcomes are not clearly defined. Children with asymptomatic GHU were examined and work-up was performed. Patients with recurrent GHU with proteinuria, or significant proteinuria, were considered for renal biopsy. The male:female ratio of all patients was 190:75, and the median age at onset of GHU was 6.4 years. Patients were grouped according to abnormalities on initial evaluation as follows: idiopathic (50%), proteinuria (21%), hypercalciuria (14%), sonographic abnormality (7%), hypocomplementemia (4%), familial (3%), and bleeding tendency (2%). Of patients with idiopathic GHU, 38% had a single episode, and of these, 34% had persistent microscopic hematuria, which resolved on follow-up., Late onset proteinuria was accompanied in 11% of patients with recurrent GHU. Nutcracker syndrome was diagnosed in one patient with recurrent idiopathic GHU. Of patients with recurrent GHU, 89% had no proteinuria on follow-up, and GHU and microscopic hematuria resolved in 97% and 89%, respectively. Our work-up protocol was useful for diagnosis and follow-up planning. Asymptomatic GHU in children was most commonly the idiopathic form. Overall, long-term prognosis appears to be benign; however, careful follow-up is essential.
    No preview · Article · Nov 2013 · Nephrology
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    ABSTRACT: Pediatric urolithiasis is uncommon in children but is a cause of significant morbidity and damage to the kidney. Although much information on adult urolithiasis is available in the literature, large studies on the pediatric population are still scarce. In this report, we review our experience with pediatric urolithiasis over 22 years at a tertiary referral center.
    Full-text · Article · Jan 2013 · Journal of the Korean Society of Pediatric Nephrology
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    Su-Yon Kim · Joo Hoon Lee · Hae Il Cheong · Young Seo Park
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    ABSTRACT: Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the α (SCNN1A), β (SCNN1B), or γ (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.
    Preview · Article · Jan 2013 · Journal of the Korean Society of Pediatric Nephrology
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    ABSTRACT: Cystinuria is an autosomal recessive disease characterized by impaired transport of cystine and dibasic amino acids in the proximal renal tubule, resulting in the formation of cystine stones. It is believed to account for about 1% of all kidney stones and up to 10% of pediatric stones. Here we report a case of cystinuria with multiple renal stones confirmed by genetic mutational analysis. An 8-month-old girl was admitted to AMC with persistent fever and multiple renal stones. A renal sonogram showed multiple stones at the right renal pelvis, right distal ureter, and left renal medullary portion. An approximately 1 cm renal stone was extracted spontaneously, and stone analysis revealed it to be composed entirely of cystine. Cystinuria was confirmed by increased urine dibasic amino acid levels, including cysteine, and genetic mutational analysis showed the patient to be a homozygote for the pathogenic c. 1820del (p.L607fs) of SLC3A1. Despite treatment with oral hydration and urinary alkalinization, and restricted intake of animal protein, the stones increased in size and number. The patient has since been treated with tiopronin.
    Preview · Article · Jan 2013 · Journal of the Korean Society of Pediatric Nephrology
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    ABSTRACT: Background: Health-related quality of life (HRQOL) is an essential subject for children with end-stage renal disease (ESRD) and their families. Methods: We performed a cross-sectional investigation of HRQOL in children undergoing renal replacement therapies, such as dialysis and renal transplantation, using the 34-item Pediatric Quality of Life Inventory 3.0 End-Stage Renal Disease (PedsQL 3.0 ESRD) module. We assessed 92 ESRD patients aged 2-18 from four Korean university hospitals. Results: The male:female ratio was 44:48, and the most common cause of ESRD was chronic glomerulonephritis. Fifty-five children were treated by dialysis, and 37 received renal transplantation. Transplant patients had better HRQOL than dialysis patients in two domains in parent proxy reports: "About my kidney disease" and "Worry." In child self-reports, transplant patients had better HRQOL than dialysis patients in one domain: Treatment problems. However, there were no significant differences in total QOL scores between peritoneal dialysis (PD) and transplant patients in child self-reports. In addition, there were differences in the ESRD module scores between child self- and parent proxy reports. Children usually reported better QOL than their parents. Child self-reports showed significantly higher QOL scores than parent proxy reports in the domains of General fatigue, Family & peer interaction, and Worry. Children on PD self-reported a significantly higher QOL than children on hemodialysis (HD). Conclusions: The PedsQL 3.0 ESRD module may be useful as an ESRD-specific instrument to evaluate HRQOL in children; however, a larger, longitudinal prospective study is warranted.
    Full-text · Article · Jul 2012 · Pediatric Nephrology
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    ABSTRACT: Health-related quality of life is a very important issue in children with end-stage renal disease and their family. Moreover, this can be a lifelong problem. In this study, we performed a cross-sectional investigation of the health-related quality of life in Korean children, undergoing renal replacement therapies, such as dialysis and renal transplantation. We validated the Korean version of the PedsQL 3.0 End-Stage Renal Disease Module by comparing with the PedsQL 4.0 Generic Core Scales. A total of 92 pediatric patients with end-stage renal disease, aged 2-18 year old, were enrolled in four teaching hospitals in Korea. The module was acceptable for both parent proxy-report and child self-report. The response rate was acceptable, since no reminders were delivered. A large proportion of the responders answered > 90% of the items, which suggests a good face validity. The PedsQL 4.0 Generic Core Scales and the PedsQL 3.0 End-Stage Renal Disease Module showed minimal missing values in the current study, which supported feasibility. The validation analyses revealed acceptable floor and ceiling effects and an acceptable construct validity. The PedsQL 3.0 End-stage Renal Disease Module may be useful as an end-stage renal disease -specific instrument in the evaluation of the health-related quality of life in Korean children; however, a larger, longitudinal prospective study is needed.
    Full-text · Article · Jun 2012 · Health and Quality of Life Outcomes
  • Yoon Jung Lee · Joo Hoon Lee · Young Seo Park
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    ABSTRACT: We prospectively determined the risk factors for renal scar formation after the first episode of acute pyelonephritis as confirmed on dimercapto-succinic acid scintigraphy in children younger than 1 year. A total of 213 infants with acute pyelonephritis were enrolled in the study. Infants with urological abnormalities other than vesicoureteral reflux were excluded from analysis. Followup scanning was performed 6 months after acute pyelonephritis and voiding cystourethrography was performed after the acute phase of infection. Possible risk factors were evaluated including gender, peak fever, duration of fever before and after treatment with antibiotics, white blood cell count, C-reactive protein concentration, presence of vesicoureteral reflux and reflux grade. Six months after acute pyelonephritis 37 of 213 (17.4%) infants and 41 of 248 (16.5%) renal units with acute photon defects on initial dimercapto-succinic acid scintigraphy had renal scars. The rates of scar formation were significantly higher in infants with vesicoureteral reflux than in those without (39.4% vs 7.5%, p <0.001, OR 9.433) and in renal units with vesicoureteral reflux than in those without (39.4% vs 8.2%, p <0.001, OR 7.237). Renal scar formation was related to reflux grade (none-8.2%, grade I-20%, grade II-22.7%, grade III-40%, grade IV-70%, grade V-55.6%, p <0.001) but not to any other clinical or laboratory variables. The presence of vesicoureteral reflux was the only independent risk factor for renal scar formation after acute pyelonephritis in infants. The prevalence of renal scarring was significantly correlated with reflux grade. Voiding cystourethrography is necessary in infants after the first acute pyelonephritis episode is confirmed on dimercapto-succinic acid renal scintigraphy.
    No preview · Article · Mar 2012 · The Journal of urology
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    ABSTRACT: The aim of our study was to investigate the characteristics of the peritoneal dialysis (PD) - related peritonitis and to evaluate the effectiveness of the empirical antibiotics recommended by the International Society for Peritoneal Dialysis in Korean children.
    Preview · Article · Jan 2012 · Journal of the Korean Society of Pediatric Nephrology
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    ABSTRACT: We report a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome with a novel splicing mutation of the FOXP3 gene. The patient is a boy, born at 39 + 2 weeks gestation with a birth weight of 3,280 g. The family history was unremarkable. He was well until 11 months of age, when he was diagnosed with type 1 diabetes mellitus. The level of urine C-peptide was 0.58 μg/day (normal range, 44-116 μg/day). Glutamic acid decarboxylase autoantibody was not detected, but a high level of anti-insulin antibody (50 IU/mL; normal range, <5 IU/mL) was noted. This patient presented with unusual clinical features, including pure red cell aplasia, membranous glomerulopathy, and posterior reversible encephalopathy syndrome after a vaccination against influenza A H1N1 virus. The diagnosis of IPEX was made when the patient was 11 years old, which is quite late compared with typical cases. Conclusion: Although IPEX syndrome is usually a disease of infancy, it should not be ruled out solely on the basis of age. IPEX presentation is so variable that it should be suspected in a male child with one or more autoimmune disorders and severe infections.
    No preview · Article · Dec 2011 · European Journal of Pediatrics
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    Full-text · Article · Dec 2011 · American Journal of Kidney Diseases
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    ABSTRACT: Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V). Clinico-genetic features of a nationwide cohort of 26 Korean children with BS were investigated. The clinical diagnosis was aBS in 8 (30.8%), cBS in 15 (57.7%) and mixed Bartter-Gitelman phenotype in 3 cases (11.5%). Five of eight patients with aBS and all 18 patients with either cBS or mixed Bartter-Gitelman phenotype had CLCNKB mutations. Among the 23 patients (46 alleles) with CLCNKB mutations, p.W610X and large deletions were detected in 25 (54.3%) and 10 (21.7%) alleles, respectively. There was no genotype-phenotype correlation in patients with CLCNKB mutations. Twenty-three (88.5%) of the 26 BS patients involved in this study had CLCNKB mutations. The p.W610X mutation and large deletion were two common types of mutations in CLCNKB. The clinical manifestations of BS III were heterogeneous without a genotype-phenotype correlation, typically manifesting cBS phenotype but also aBS or mixed Bartter-Gitelman phenotypes. The molecular diagnostic steps for patients with BS in our population should be designed taking these peculiar genotype distributions into consideration, and a new more clinically relevant classification including BS and Gitelman syndrome is required.
    Full-text · Article · Aug 2011 · Nephrology Dialysis Transplantation
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    ABSTRACT: MYH9-related disorders are a group of autosomal, dominantly inherited disorders caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA (NMMHC-IIA). May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes belong to this group. Macrothrombocytopenia is a common characteristic associated with MYH9-related disorders, and basophilic cytoplasmic inclusion bodies in leukocytes (Döhle-like bodies), deafness, cataracts, and glomerulopathy are also found in some patients. In this study, renal manifestations of 7 unrelated Korean patients with MYH9-related disorders were analyzed. Of a total of 7 patients, 4 had disease-related family histories. One familial case had a mutation in the tail domain of NMMHC-IIA and showed milder renal involvement with preserved renal function by his 30s. Among the 3 familial cases without renal involvement, 2 had mutations in the tail domain of NMMHC-IIA and 1 had a mutation in the motor domain. The remaining 3 sporadic cases had severe renal involvement with rapid progression to end-stage renal disease and mutations located in the motor domain. In summary, mutations in the motor domain of NMMHC-IIA and negative family history were associated with severe renal involvement in patients with MYH9-related disorders. These results are in agreement with those of previous reports.
    No preview · Article · Apr 2011 · Pediatric Nephrology

Publication Stats

311 Citations
62.32 Total Impact Points

Institutions

  • 2008-2015
    • University of Ulsan
      • • Department of Pediatrics
      • • College of Medicine
      Ulsan, Ulsan, South Korea
    • Duksung Women's University
      • Department of Pharmacy
      Sŏul, Seoul, South Korea
  • 2006-2014
    • Asan Medical Center
      • Department of Pediatrics
      Sŏul, Seoul, South Korea
  • 2005-2009
    • Ulsan University Hospital
      Urusan, Ulsan, South Korea
    • Seoul National University Hospital
      • Department of Pathology
      Sŏul, Seoul, South Korea
  • 2001
    • Seoul National University
      • Department of Pediatrics
      Sŏul, Seoul, South Korea