• Childhood Kidney Diseases
• /
• 제9권2호
• /
• pp.237-244
• /
• 2005

막증식사구체신염은 혈관사이바탕질, 내피밑층의 면역침착물의 증가와 사구체 기저막의 이중윤곽을 특징으르 하는 증식성 일차성 사구체신염이다. 막증식사구체신염에서의 사구체 침범은 주로 미만성이지만, 초점성 또는 분절성의 막증식사구체신염이 몇몇 발표되었다. 그러나, 우리나라에서는 아직 발표된 예가 없어서 이에 저자들은 5세 여아에서 3년 동안 저보체혈증 및 현미경적 혈뇨와 단백뇨를 보인 초점분절 막증식사구체신염 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제62권5호
• /
• pp.193-197
• /
• 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.

• Clinical and Experimental Pediatrics
• /
• 제53권7호
• /
• pp.766-769
• /
• 2010

Dense deposit disease (DDD) is a rare disorder characterized by the deposition of abnormal electron-dense material within the glomerular basement membrane of the kidneys. The diagnosis is made in most patients between 5 and 15 years of age, and within 10 years, approximately half of the affected patients progress to end-stage renal disease. We report a rare case of regressive DDD without C3 deposition after steroid therapy in an 11-year-old boy. The patient presented with edema, gross hematuria, and nephrotic-range proteinuria. Laboratory testing revealed a serum creatinine level of 1.17 mg/dL, albumin level of 2.3 g/dL, and serum C3 level of 125 mg/dL (range 90-180 mg/dL). The results of the renal biopsy were consistent with DDD without C3 deposition. After 6 weeks of steroid therapy, the nephrotic syndrome completely resolved. The follow-up renal biopsy showed a significant reduction in mesangial proliferation and disappearance of electron-dense deposits in the GBM.

• Journal of Ginseng Research
• /
• 제37권1호
• /
• pp.94-99
• /
• 2013

Proteinuric conditions demonstrate structural and compositional changes of the foot processes and slit diaphragms between podocytes. p130Cas in podocytes serves as an adapter protein anchoring glomerular basement membrane to actin filaments of podocyte cytoskeleton. To investigate the effect of ginseng total saponin (GTS) on the pathologic changes of podocyte p130Cas induced by diabetic conditions, we cultured mouse podocytes under: 1) normal glucose (5 mM, control); 2) high glucose (HG, 30 mM); 3) advanced glycosylation endproducts (AGE)-added; or 4) HG plus AGE-added conditions and treated with GTS. In confocal imaging, p130Cas colocalized with zonula occludens-1 and synaptopodin connecting to F-actin. However, diabetic conditions relocalized p130Cas molecules at perinuclear cytoplasmic area and reduced the intensity of p130Cas. In Western blotting, diabetic conditions, especially HG plus AGE-added condition, decreased cellular p130Cas protein levels at 24 and 48 h. GTS improved such quantitative and qualitative changes. These findings imply that HG and AGE have an influence on the redistribution and amount of p130Cas of podocytes, which can be reversed by GTS.

• 대한수의학회지
• /
• 제34권4호
• /
• pp.653-664
• /
• 1994

This study was carried out to investigate diabetic renal changes in cyclophosphamide(CY) treated nonobese diabetic(NOD) mice and to develop animal model of diabetic human nephropathy. The 8-week-old NOD and ICR mice were injected with cyclophosphamide intraperitoneally at 200mg/kg body weight and compared the chemical effects on these mice with the non-treated NOD and ICR mice respectively. The renal glomeruli in ICR, cyclophosphamide-treated ICR(ICR+CY), NOD and cyclophosphamide-treated NOD(NOD+CY) mice were observed by the light and electron microscopes. The results obtained were summarized as follows ; 1. Spontaneous incidences of diabetes mellitus in NOD mice were significantly promoted by dosing with cyclophosphamide. 2. Glomerulohypertrophy, proliferation of mesangium, partial thickening of glomerular basement membrane, and partial fusion of pedicels of podocyte were observed in NOD mice and NOD+CY mice. These changes were not observed in both ICR mice and ICR+CY mice. 3. The diabetic nephropathy observed in NOD+CY mice was more severe than that of non-treated NOD mice.

• 한국수의병리학회지
• /
• 제2권2호
• /
• pp.147-151
• /
• 1998

A five-month old female Great Dane with a history of depression and convulsion was submitted to the Pathology and Diagnosis Reference Division of National Veterinary Research and Quarantine service. The dog had ingested concentrated antifreeze and died 12 days after the sudden onset of clinical signs. Main gross lesion was limited to swollen kidneys with diffusely fine granularity on the cut surface. Principle microscopic lesions were focused on the kidneys including dilated Bowman's space, thickened glomerular basement membrane, many light yellowish crystals, and proteinaceous casts in some tubules. Some neutrophils and lymphocytes were focally infiltrated in interstitium of the cortex and medulla. Crystals were angular or quite irregular in shape and arranged in sheave or rosette form. Under polarized light, the crystals were birefringent, which is typical of calcium oxalate crystals. Crystals were more concentrated in the cortex than in the medulla. A few crystals were also observed in the small blood vessels of the brain. Based upon the history of ingestion of antifreeze and the identification of calcium oxalate crystals in the tissue sections of the kidney and brain, this case was diagnosed as ethylene glycol toxicosis in a dog.

• Childhood Kidney Diseases
• /
• 제25권2호
• /
• pp.128-132
• /
• 2021

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

• Journal of Acupuncture Research
• /
• 제15권2호
• /
• pp.43-60
• /
• 1998

This study examined the histomorphomeric and histological changes of the left and right kidney in uninephrectomized rat. The results were as follows: 1. In the control, the right kidney was more prominent than the left in the basement membrane of glomerular capillaries. The podocyte had well developed Golgi apparatus in the left kidney and rough endoplasmic reticulum in the right kidney. 2. At the 30 days after unilateral nephrectomy, the basal lamina of glomerular capillaries was prominently thickened in the right kidney. The cytoplasm of the podocyte of the left kidney was markedly increased and had free ribosomes, developed Golgi apparatus and rough endoplasmic reticulum. 3. At the 30 days, the section of the glomeruli were more enlarged in the left kidney than in the right. 4. At the 20 day, the nuclear section of the podocytes were markedly enlarged in the right kidney, but those of the left kidney were diminished. The mitochondrial section of the podocytes were prominently increased in the right kidney. 5. The nuclear section of the parietal layer lining cells was no significant change in the right kidney. That of the left kidney was increased at the 20 days and decreased at the 40 days. The nuclear section of glomerular endothelium of the left kidney increased earlier than the right. 6. In the morphometry of the control kidney, the section areas, long and short diameters, the nuclear section, the mitochondrial section of the proximal tubule cells, and the changes of those were more large in the right kidney than in the left. 7. The luminal secretory vesicles and peroxisomes of the left kidney were more than the right at the 20 days. The increase of mitochodrial section in the proximal tubule cells of the left kidney was more prominent than the right. The large cytoplasmic vacuoles were more prominent in the left kidney than in the right. 8. The thickness of cytoplasm and brush border was more thick in the control left kidney than in the control right. The change of cytoplasmic thickness of the left kidney was increased earlier than in the right and both kineys were increased in the thickness of brush border at the 30 days.

• Childhood Kidney Diseases
• /
• 제8권2호
• /
• pp.205-213
• /
• 2004

목적: 저자들은 경피적으로 신생검을 시행 받았던 사구체 신질환 환아들을 대상으로 신질환을 연령 및 성별 분포, 임상 소견 및 원인질환 등을 분석하고 병리조직학적으로 유형별로 분류하였으며, 각종 사구체질환의 빈도를 검토함과 아울러 신생검 실시전의 임상적 진단과 신생검후 임상상에 따른 병리 진단 결과를 검토하여 신장조직검사의 효용성과 임상에서 신질환을 효과적으로 진단하고 치료하는데 활용되는 정도를 알아보고자 하였다. 방법: 1995년 10월부터 2003년 8월까지 신장질환으로 충남대학교병원 소아과에 입윈하여 초음파 유도하에 경피적 신생검을 시행받은 52례의 환아를 대상으로 연령 및 성별 분포, 임상 소견 및 원인질환 등을 분석하였다. 또한 신생검 시행전의 병력, 이학적 소견 및 검사 소견 등에 의한 임상 진단과 신생검 시행 후의 병리학적 소견을 비교 분석하였다. 결과: 신생검 조직검사를 시행받은 52례중 남아가 33례, 여아가 19례로 남녀비는 1.6:1이었고, 평균 연령은 $9.8\pm2.6$세이었다. 조직검사를 받게된 임상적 주증상은 혈뇨가 22례(42.3%)로 가장 많았으며, 다음으로는 단백뇨 16례(30.8%), 혈뇨 및 단백뇨 14례(26.9%) 등의 순이었다. 혈뇨 중 육안적 혈뇨가 15례(68.2%), 현미경적 혈뇨가 7례(31.8%)이었다 병리조직학적 소견상 원발성 사구체 질환이 84.6%로 가장 많았으며 질병별 분포에서는 IgA 신증이 28.8%, 비박형 신사구체 기저막 질환 25.0%, 국소 분절성 사구체 경화증 11.5%, 막 증식성 사구체 신염 7.7%, 미세변화형 신증후군 3.8%, 연쇄상구균 감염 후 급성 사구체 신염 3.8%, 막성 신염 3.8% 순이었다. 임상적으로 진단된 신사구체 질환들은 신장 조직 검사 결과 병리조직학적으로 다양하게 진단되었다. 결론: 신질환의 임상적 진단은 신생검에 의해 병리학적으로 다양한 소견을 나타낸다. 그러므로 신질환 환아를 효율적으로 관리하기 위해서는 임상진단과 함께 신생검을 통한 신조직 검사가 병리조직학적 진단, 치료 방법과 경과 및 예후 판정에 필수적으로 활용되어야 할 것이다.

• Nutrition Research and Practice
• /
• 제5권4호
• /
• pp.365-369
• /
• 2011

This study investigated the preventive effect of Saururus chinensis Baill against renal damage induced by a high-fructose diet in rats. The rats (n = 30) were fed either a cornstarch-based (65%), high-fructose (65%), or high-fructose (64.5%) diet with 0.5% S. chinensis Baill extract for 10 weeks. Twenty-four hour urine collections were obtained and the animals were sacrificed after an overnight fast. Serum urea and creatinine and urine albumin were measured using colorimetric methods, and creatinine clearance was determined. In addition, thiobarbituric acid reactive substances (TBARS), reduced glutathione (GSH), and the activity of superoxide dismutase (SOD) in the kidney were determined. Kidney samples were also examined histologically. The fructose-fed rats showed renal dysfunction, indicated by decreased creatinine clearance, increased albumin in the urine, and increased urea and creatinine in the serum. These renal function parameters were comparable to control levels in rats that consumed S. chinensis Baill. Fructose consumption increased renal TBARS and reduced GSH and SOD activity, whereas these levels were near-normal in the rats consuming S. chinensis Baill The kidneys of fructose-fed rats showed glomerular basement membrane thickening, mesangial matrix expansion, and tubule dilation. These pathological changes were not seen in the rats that consumed S. chinensis Baill. Therefore, S. chinensis Baill effectively alleviated fructose-induced renal damage in these rats, at least partially due to antioxidant activity.