• Clinical and Experimental Pediatrics
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• v.62 no.5
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• pp.193-197
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• 2019

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (${\alpha}3$, ${\alpha}4$, and ${\alpha}5$). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen ${\alpha}5$ chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.

• Journal of Yeungnam Medical Science
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• v.38 no.3
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• pp.225-230
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• 2021

Background: We aimed to analyze the effectiveness of albumin to globulin ratio (AGR) in predicting postoperative febrile urinary tract infection (fUTI) after ureteroscopic lithotripsy (URS) and retrograde intrarenal surgery (RIRS). Methods: From January 2013 to May 2018, 332 patients underwent URS and RIRS. The rate of postoperative fUTI and risk factors for postoperative fUTI were analyzed using logistic regression. Patients were divided into postoperative fUTI and non-postoperative fUTI (non-fUTI) groups. AGR with other demographic and perioperative data were compared between the two groups to predict the development of fUTI after URS. Results: Of the 332 patients, postoperative fUTI occurred in 41 (12.3%). Preoperative pyuria, microscopic hematuria, diabetes mellitus, hypoalbuminemia, and hyperglobulinemia were more prevalent in the fUTI group. Patients in the fUTI group had larger stone size, lower preoperative AGR, longer operation time, and longer preoperative antibiotic coverage period. In a multivariable logistic analysis, preoperative pyuria, AGR, and stone size were independently correlated with postoperative fUTI (p<0.001, p=0.008, and p=0.041, respectively). Receiver operating curve analysis showed that the cutoff value of AGR that could predict a high risk of fUTI after URS was 1.437 (sensitivity, 77.3%; specificity, 76.9%), while the cutoff value of stone size was 8.5 mm (sensitivity, 55.3%; specificity, 44.7%). Conclusion: This study demonstrated that preoperative pyuria, AGR, and stone size can serve as prognostic factors for predicting fUTI after URS.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.155-168
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• 2002

Purpose; Systemic lupus erythematosus(SLE) is an autoimmune disease with multi-system involvement and renal damage is a major cause of morbidity and mortality in children. Renal involvement is more common and severe in children than in adults. Therefore, renal biopsy plays a crucial role in planning effective therapy. In this study, we investigated the clinical and pathological findings of lupus nephritis in children to aid clinical care of the disease. Methods: The clinical and pathological data of 40 patients who were diagnosed as SLE with renal involvement in Shinchon Severance Hospital from Jan. 1990 to Sep. 2002 were analyzed retrospectively. Results: The ratio of male to female patients was 1:3 and the median age at diagnosis was 12.1(2-18) years old. FANA(95.0%), anti-ds DNA antibody(87.5%), malar rash(80.0%) were the most common findings among the classification criteria by ARA. Microscopic hematuria with proteinuria(75.0%), nephrotic syndrome(55.0%), and microscopic hematuria alone(15.0%) were the most common renal presentations in the respective order at diagnosis. There were 27 cases with WHO class IV lupus nephritis confirmed by renal biopsy and 3 cases with pathological changes of WHO class type. Different treatment modalities were carried out : prednisolone only in 5 cases, prednisol-one+azat-hioprine in 9 cases, prednisolone+azathioprine+intravenous cyclophosphamide in 14 cases, prednisolone+cyclosporine A+intravenous cyclophosphamide in 12 cases, plasma exchange in 9 cases and intravenous gamma-globulin in 2 cases. The average follow-up period was $51.8{\pm}40.5$ months. During $51.8{\pm}40.5$ months. During follow-up, 4 patients expired. The risk factors associated with mortality were male, WHO class IV and acute renal failure at diagnosis. Conclusion: Renal involvement was noted in 63.5% of childhood SLE, and 67.5% of renal lesion was WHO class IV lupus nephritis which is known to be associated with a poor prognosis. Therefore aggressive treatment employing immunosuppressant during the early stages of disease could be helpful in improving long-term prognosis. But careful attention should be given to optimize the treatment due to unique problems associated with growth, psychosocial development and gonadal toxicity, especially in children.

• The Korean Journal of Nuclear Medicine
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• v.35 no.3
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• pp.192-197
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• 2001

Purpose: Urinary cytology and cystoscopic exam are effective methods for diagnosis of transitional cell carcinoma(TCC). But the former shows drawbacks such as the need for a well-trained examiner, and wide imprecision related to the variability of microscopic exam; the latter is an invasive method. $UBC^{TM}$ test detects the epitope on specific cytokeratin fragments released from epithelium of bladder cancer by immunoradiometric assay. We compared $UBC^{TM}$ test with urinary cytology for diagnosis of TCC to evaluate the utility of $UBC^{TM}$ test. Materials and Methods: Eighty-four patients with hematuria were included in our study. $UBC^{TM}$ tests (IDL Biotech, Sweden) were assayed in mid-stream urine according to the ordinary assay protocol. Nineteen patients were confirmed as TCC by cystoscopic examination and underwent transurethral resection (Group A). Other patients had various benign urinary tract conditions (Group B). Samples were considered positive as the $UBC^{TM}$ concentration was greater than $12{\mu}g/L$. Results: $UBC^{TM}$ levels were significantly different between group A ($95.9{\pm}166.4\;{\mu}g/L$) and group B ($19.2{\pm}85.6{\mu}g/L$) (P<0.001). Sensitivity for diagnosis of TCC was 89.5% (17/19) in UBC test and 47.4% (9/19) in cytology (p<0.05). Specificity for diagnosis of TCC was 81.5% (53/65) in $UBC^{TM}$ test and 100% (65/65) in cytology. $UBC^{TM}$ test was significantly more sensitive in stage Ta, $T_1$ tumors (84.6 vs 38.5%, p<0.05) and in grade I (83.3% vs 16.7%, p<0.05) than cytology. $UBC^{TM}$ test showed a tendency to be more sensitive as the grade was higher (83.3% in Grade I, 90% in Grade II and 100% in Grade III). Conclusion: $UBC^{TM}$ test could be a useful method in distinguishing TCC from other benign genitourinary diseases. Moreover, $UBC^{TM}$ test could be an especially valuable marker for diagnosis of TCC in patients with early TCC of low grade TCC compared to urinary cytology. Therefore, mbined use of $UBC^{TM}$ test in association with cytology is helpful to overcome the limited sensitivity of cytology.

• Childhood Kidney Diseases
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• v.4 no.2
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• pp.111-119
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• 2000

Purpose : Henoch-$Sch{\ddot{o}}nlein$ purpura(HSP) is a common pediatric discase presenting most frequently with skin, gastrointestinal, joint and renal manifestations. The prognosis of HSP is mainly determined by the involvement of the kidney, but prognostic markers have not been established. We evaluated the patients who have HSP nephritis with nephrotic syndrome. Method : Clinical manifestations and laboratory findings were observed and analyzed in 34 cases with HSP which were manifested by nephrotic syndrome hospitalized at Kyung Hee university Hospital during the period from Jan. 1990 to Dec. 1998. Results : 1) Male to female ratio was 1.3:1, and mean age at onset was 8.3 year. 2) Mean duration from symptom onset to renal biopsy was 10.5 weeks. 3) Proportion of patients presenting with acute nephritis was 32.4$\%$, gross hematuria 17.6$\%$, microscopic hematuria 50$\%$. 4) The findings of renal biopsy were 20 cases of grade II, 11 cases of grade III, 2 cases of grade I, 1 case of grade IV according to classification by ISKDC. 5) Patients with grade I were recovered with no residual defect, but patients with grade IV shows active renal disease(states C). Conclusion : Among the 디le patients with Henoch-$Sch{\ddot{o}}nlein$ purpura accompanying nephrotic syndrome, more aggressive treatment might be needed in patients showing crescents formation on renal biopsy. A prospective study will be needed to explore the progression of this disease.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.30-37
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• 2003

Purpose : $Henoch-Sch\"{o}nlein$ purpura(HSP) is usually a self-limited disease with a good eventual outcome. The prognosis of HSP is mainly determined by the renal involvement. In this study, We evaluated children with biopsy-proven $Henoch-Sch\"{o}nlein$ purpura nephritis about the clinical outcome correlated with renal manifestation and morphologic findings. Methods : The clinical features, initial laboratory and pathologic findings, and clinical out-come were evaluated in 60 children with biopsy-proven $Henoch-Sch\"{o}nlein$ purpura nephritis at Yonsei University Severance Hospital during the period from Jan. 1990 to Dec. 2002. Results : The ratio of male to female patients was 1.2:1. The interval between the onset of $Henoch-Sch\"{o}nlein$ purpura and renal manifestation was less than 3 months in 81% of the patients. Initial renal manifestation was microscopic hematuria in 100% of patients, isolated hematuria in 15%, acute nephritic syndrome in 7%, nephrotic syndrome In 22% of patients. Renal manifestation correlated with clinical outcome. Grade II and III were the most common in histologic grades of ISKDC. Renal pathologic finding correlated with clinical outcome. Conclusion : Renal manifestation and pathologic findings correlated with the clinical out-come. It is necessary to evaluate the correlation between pathologic findings and treatment.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.133-141
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• 2003

Purpose : Idiopathic Membranous Nephropathy(IMN) is a rare renal disease in children. To help better understanding of its clinical course and treatment strategies, we reviewed the clinical manifestations and pathological findings of children with IMN. Methods : Among 58 cases with MN, from 1977 to 2003, 42(72.4%) were hepatitis B virus (HBV) associated and 16(27.6%), 6 males and 10 females, were idiopathic. All cases diagnosed aster 2000 were IMN. Several clinicopathological findings(sex, onset age, proteinuria, serum albumin, cholesterol, creatinine clearance, tubulointerstitial changes, glomerular sclerosis, hypertension, renal vein thrombosis, the use of ACE inhibitor, and immunosuppressive therapy) were compared between the remission and the non-remission group of the patients with IMN. Results : The median onset age was 13.4 years. Clinical manifestations were nephrotic syn-drome(7 cases, 43.8%), gross hematuria(5 cases, 31.3%) and microscopic hematuria with proteinuria(3 cases, 18.8%). Hypertension, hypocalcemic tetany and renal vein thrombosis were accompanied in 2, 1 and 2 cases, respectively. In addition to the typical findings of MN, the kidney biopsies showed segmental sclerosis(5 cases, 31.3%) or global sclerosis(6 cases, 37.5 %), diffuse crescents(1 case), and mild(11 cases, 68.7%) or moderate tubulointerstitial changes(3 cases, 18.8%). Thirteen cases(86.7%) received oral steroid. Among them 2 cases received cyclophophamide and 1 received cyclosporin as well. Ten cases(62.5%) received ACE inhibitors. In the patients followed up, 7 cases(46.7%) became free from proteinuria (remission group) while 8(53.3%) presented continous proteinuria (non-remission group), two (13.3%) of which progressed to renal failure. Clinicopathological findings showed no significant differences between the two groups. Conclusion : With HBV vaccination, HBV associated MN decreased markedly and IMN has taken up most of MN in children. For better understanding of this rare disease, a prospective multicenter study of the clinical course and treatment strategies should be done.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.9
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• pp.5107-5110
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• 2013

Background: Among women with haematuria, defining individuals under high risk for bladder cancer based on reproductive factors prior to cystoscopy would be of great benefit in the management of this condition. The aim of this study was to compare age and reproductive factors such as menopausal status, parity, age at first delivery and age at the last delivery between women who have haematuria with or without bladder cancer. Materials and Methods: A total of 463 patients underwent diagnostic cystoscopy in D$\ddot{u}$zce University Faculty of Medicine between 1 June 2008 and 1 June 2013. Female patients who presented with persistent microscopic or macroscopic haematuria and underwent standard evaluation for haematuria including urinalysis, urine culture, urine cytology, urinary tract imaging with excretory urography or computerized tomography with contrast enhancement and endoscopic evaluation of the urethra and bladder were included in this study. Exclusion criteria were tobacco use and high risk occupations for bladder cancer such as textile, dry cleaning, painting and etc. Forteen women had hematuria due to benign conditions, and 18 due to bladder cancer. Data were retrospectively retrieved from the medical records of Duzce University Hospital. Results: Patients with haematuria due to benign reasons did not significantly differ from patients who were found to have bladder cancer in terms of age (p=0.28), menopausal status (p=0.29), mean parity (p=0.38), being nulliparous (p=0.57), parity ${\geq}3$ (p=0.22), age ${\leq}18$ years at first delivery (p=1.00), age ${\geq}30$ years at last delivery (p=0.26), age ${\geq}35$ years at last delivery (p=0.23) and percentage of the patients with advanced age (${\geq}65$ years) (p=0.18). Conclusions: It is difficult to predict a high risk for developing bladder cancer in women with haematuria based solely on reproductive factors.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.227-232
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• 2008

A 16-year-old girl presented with proteinuria and microscopic hematuria detected through mass urinary screening and was diagnosed as having suspected postinfectious glomerulonephritis by renal biopsy. However, heavy proteinuria did not respond to angiotensin converting enzyme inhibitor therapy. After 6 months, cervical lymphadenitis developed and a neck node biopsy showed subacute necrotizing lymphadenitis. After an additional 2 months, she developed facial erythema and thrombocytopenia. A repeat renal biopsy demonstrated lupus nephritis class IV. She was treated with pulse methylprednisolone(500 mg/day intravenously for 3 consecutive days) followed by oral deflazacort and monthly intravenous cyclophosphamide pulse(1 g/$m^2$) for 6 months. We report a case diagnosed as systemic lupus erythematosus(SLE) during medical follow-up after urinary screening.

• Childhood Kidney Diseases
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• v.17 no.2
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• pp.86-91
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• 2013

Purpose: The aim of this study was to verify renal inflammation following Kawasaki disease (KD) using single photon emission computed tomography along with Technetium-99m dimercaptosuccinic acid scintigraphy (DMSA renal SPECT). Methods: From March 2011 to October 2011, 15 patients diagnosed with KD at the National Health Insurance System Ilsan Hospital were enrolled in the study. All patients underwent DMSA renal SPECT to evaluate renal involvement during the acute phase of KD. Urine ${\beta}2$-microglobulin (${\beta}2$-MG), a marker of renal proximal tubular dysfunction, was also measured to assess renal damage. Results: All 15 patients had normal renal function test results. However, microscopic hematuria and pyuria were observed in 13% and 33% of the patients, respectively. Moreover, urine ${\beta}2$-MG was elevated in 46% of the patients. In addition, patients were divided into two groups based on ${\beta}2$-MG level: those with an increased ${\beta}2$-MG level, and those with a normal ${\beta}2$-MG level. No significant differences were found between these two groups in clinical characteristics, laboratory, sonography, and echocardiography findings. All patients' DMSA renal SPECT scans were normal. Conclusion: Our study showed that mild abnormalities in the urinalysis and elevated urine ${\beta}2$-MG were the only findings of renal involvement in KD. However, no aggressive renal manifestations were detected on DMSA renal SPECT.