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1.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report a case of BBS with chronic kidney disease (CKD) at younger age (17 year) from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly and central obesity. These patients should undergo regular monitoring of renal function test to early diagnosis and treatment of CKD to prevent morbidity and mortality. Renal transplantation is a viable option of renal replacement therapy in these patients. These findings are valuable for comparing phenotype of BBS patients with CKD from various national and international centers.  相似文献   

2.
Down syndrome is one of the most common genetic causes of learning disabilities in children. Although the incidence of renal and urological involvement in Down syndrome is not very common, monitoring of patients with Down syndrome for renal diseases should be done regularly as patient’s age into the second and third decades. With increased survival, it appears that a growing number of these patients present with chronic renal failure. Down syndrome patients are apparently not suited for peritoneal dialysis because of lacking cooperation. This procedure can be prone to failure, mainly because of an increased risk of peritonitis. Handling such patients especially those on peritoneal dialysis is challenging. Here we report a case of Down syndrome with end-stage renal disease treated with hemodialysis for 6 months. To the best of our knowledge and current literature review this is the first case report of a patient with Down syndrome undergoing hemodialysis.  相似文献   

3.
End stage renal disease (ESRD) represents a clinical condition in which there is an irreversible loss of endogenous renal function. Both structural and functional abnormalities of the kidney are associated with increased morbidity, mortality. Bardet–Biedel syndrome (BBS) is one of the rare genetic disorders with prevalence of 1 in 1, 40,000–1 in 1,60,000 worldwide. ESRD in BBS patients is the final stage of the disease, increasing mortality in youth.  相似文献   

4.
Wolfram syndrome, a rare genetic disorder is characterized by juvenile onset diabetes mellitus and optic atrophy. We describe two cases of wolfram syndrome belonging to same family; 25 year old female and her only 15 year old brother. In female, diabetes mellitus and optic atrophy were manifested in 1st decade, diabetes insipidus in 2nd decade and hypoacusis at the age of 25 years. Her ophthalmic evaluation revealed bilateral optic atrophy, decreased vision and peripheral constriction of visual field. However she didn’t have any renal dysfunction which is also considered to be one of the features of the syndrome. Though associated psychiatric features are later manifestations of the syndrome she was admitted with alleged suicidal consumption at the age of 25 years. The brother was asymptomatic except for the diabetes mellitus and insipidus.  相似文献   

5.
本文简要介绍了项目在传染病流行病学数据整合及其共享分析技术平台建设、血吸虫病时空动态传播的多尺度定量化模型、血吸虫病时空传播和动态预测模型、肾综合征出血热时空分布与传播规律、生态流行病学、传播风险预测等方面取得的重要创新性研究成果.  相似文献   

6.
何乐林 《科技通报》1994,10(4):251-253
对３２例肾囊肿做了Ｘ线和Ｂ超分析．显示尿路平片可见肾外形的改变，静脉尿路造影表现出肾盂、肾盏移位、变形的各种形态．并探讨了其形成的机理．通过Ｘ线检查７例肾囊肿误为正常或肾癌，分析造成误诊的原因。Ｂ超检查显示边界清楚的圆形或椭圆形无回声液性暗区，其中仅１例将肾囊肿误诊为肾积水，诊断符合率为９７％（３１／３２）．因此，临床上颖有肾囊肿的影象检查应首选Ｂ超检查，Ｘ线检查能显示肾解剖结构和轮廓，提高对本病的诊断率，并讨论了ＣＴ对肾囊肿诊断的价值。  相似文献   

7.
Tumor lysis syndrome has been observed in patients with malignancies with high cellular burden and high cell turnover, tumor sensitive to therapy, especially after initiating medical treatment. It very rarely occurs spontaneously. The case described here is of 6 months male infant who presented with fever since 1 month and loose stools associated with blood since 15 days. The laboratory investigations showed lactate dehydrogenase (LDH) of 6,192 IU/L and serum uric acid 18.2 mg/dl along with pancytopenia. The infant presented with electrolyte abnormalities and renal failure.  相似文献   

8.
Chylomicrons and very low density lipoproteins (VLDL) are the major carriers of triglycerides (TG) in the plasma. Hypertriglyceridemia (HTG) which is characterized by elevated plasma TG can occur either by overproduction of VLDL triglycerides or lipoprotein particles, by the impaired catabolism of triglyceride-rich lipoproteins or a combined defect in TG metabolism. These abnormalities can result from primary (genetic) disorders or innumerable secondary effects (diet or disease). Primary causes of HTG include the familial hyperlipoproteinemias, types I,IIb, III, IV and V respectively. Secondary effects can arise due to carbohydrate, alcohol or diabetes induced HTG, obesity, chronic renal failure, nephrotic syndrome, excessive stress and trauma. Structural abnormalities and the consequent receptor mediated pathways in foam cell generation are discussed.  相似文献   

9.
Experimental model of chronic renal failure in rats have been described by many authors and has also been widely used in various studies. Many of these methods used highly sophisticated instruments which was difficult in our settings. The resection model was ideal in our experimental set-up, but this model had the risk of excessive bleeding and hypovolemia. In our study we used a combination of partial resection and ligation of the renal artery to create two models of stable uremia A and Moderate uremia B. Severe uremia. Both these models were compared with a sham operated group which served as controls. Following surgical procedure, the development of uremia was monitored by serial estimation of blood urea and serum creatinine levels that were measured at regular intervals (bi-weekly). From two weeks onwards the animals in the experimental group showed a significant elevation in the serum urea levels and a consistent elevation in the serum creatinine levels upto eight weeks when compared to the animals in the sham operated group. We established a modified method of producing renal failure which can be maintained for a period of six weeks. This model is simple, reproducible and less complicated that can be used for several studies relating to renal failure in the field of research.  相似文献   

10.
Serum creatinine does not distinguish between various causes of graft dysfunction. Serial assay of proximal tubular enzymes N-Acetyl-D-glucosaminidase (NAG), Alanine aminopeptidase (AAP) and Gamma glutamyl transferase (GGT) in urine was done to assess their usefulness in distinguishing various causes of graft dysfunction. Daily serum creatinine and enzymuria were measured in 32 consecutive renal allograft recipients for first 15 postoperative days. Graft dysfunction was defined as >20% increase in serum creatinine and >100% increase in enzymuria over the baseline. The diagnosis of graft dysfunction was based upon clinical criteria, ultrasonography, cyclosporin trough level, allograft biopsy, response to anti-rejection therapy and alteration of cyclosporin dosage. Fifteen episodes of graft dysfunction were identified in 15 patients. The sensitivity and specificity of the enzymes (NAG, AAP and GGT) for predicting graft dysfunction were 87.5%, 86.9%, 88.5% and 98.2%, 98.2%, 97.9% respectively. There was a significant increase in enzymuria during acute tubular necrosis (ATN) and acute rejection episode compared to cyclosporin nephrotoxicity (p<0.01). Enzymuria assay provides a simple, reliable and noninvasive method to distinguish cyclosporin nephrotoxicity from acute tubular necrosis and acute rejection in renal allograft recipients.  相似文献   

11.
Chronic kidney disease is becoming a major health problem globally and in India an alarming number of about 8 million people are suffering from this disease. Patients undergoing hemodialysis have a high prevalence of protein-energy malnutrition and inflammation. As these two conditions often occur concomitantly in hemodialysis patients, they have been referred together as ‘malnutrition-inflammation-atherosclerosis syndrome’ to emphasize the important association with atherosclerotic cardiovascular disease. The three factors related to the pathophysiology in these patients are dialysis related nutrient loss, increased protein catabolism and hypoalbuminemia. Inflammation in Chronic Kidney disease is the most important factor in the genesis of several complications in renal disease. Pro-inflammatory cytokines like IL-1 and TNF-alpha play a major role in the onset of metabolic alterations in Chronic Kidney disease patients. Atherosclerosis is a very frequent complication in uremia due to the coexistence of hypertension, hyperhomocysteinemia, inflammation, malnutrition and increased oxidative stress, generation of advanced glycation end products, advanced oxidation protein products, hyperlipidemia and altered structural and functional ability of HDL. LDL-cholesterol, apolipoprotein (A), apolipoprotein (B), and Lp(a) are also associated with atherosclerosis. Studies have now provided enormous data to enable the evaluation of the severity of malnutrition-inflammation-atherosclerosis syndrome as well as effective monitoring of these patients.  相似文献   

12.
Alpha2-macroglobulin (MG) levels in terms of proteinase binding capacity in fresh plasma of diabetics (males 183.9±60.3 mg MG/dl, females 173.8±49.7) and viral hepatitis patients (195.2±41.4) were comparable to normal sujbects (males 180.0±28.6, females 213.0±59.6) whereas in renal failure the values were decreased (144.0±30.0) and was found to be increased in nephrotic syndrome (331.5±47.9). MG activity was stable in normals and nephrotic patients in plasma on standing for 12 hr. at 37°C. In other conditions, the proteinase binding capacity was considerably reduced (mean decrease: 51.2% in diabetes, 64.0% in renal failure and 52.6% in viral hepatitis). Concentration of MG determined by immunoelectrophoresis did not however change in diabetic plasma on 12 hr. incubation. It is proposed that proteinases are continously generated in plasma in some disease conditions which bind to MG causing reduction in measured proteinase binding capacity.  相似文献   

13.
The white spot syndrome virus (WSSV) is one of the deadly pathogens of penaeid shrimps and other crustaceans. The WSSV virion consists of an enveloped rod-shaped nucleocapsid enclosing a large circular double stranded DNA genome of 305 Kb with 181 open reading frames. The two major structural genes, VP19 and VP28 were amplified from the genomic DNA of Chinese isolate of WSSV and cloned in pUCm-T vector and sub cloned in pET-30a (+) vector. The expressions of genes inE. coli (BL21) were confirmed by SDS-PAGE analysis. The clones were sequenced, submitted to the gene bank and the Xiang Shan strain of WSSV were compared with the previous reported sequence of WSSV of various regions which revealed that VP19 and VP28 gene sequences had certain differences from the sequences of similar genes of the isolate already reported. The recombinant proteins expressed, purified and characterized.  相似文献   

14.
A number of factors are linked with non-alcoholic fatty liver diseases (NAFLD), a condition that ranges from clinically benign fatty liver to its more severe form, non alcoholic steatohepatitis (NASH). In this study, we evaluated the role of cytokines secreted from adipose tissue in the pathogenesis and progression of NAFLD. We also compared anthropometric profile, lipid profile and insulin resistance data in 105 NAFLD patients with 77 normal subjects. These subjects showed a normal serum albumin level, prothrombin time and renal function but elevated aminotransferases. Predisposing factors were diabetes mellitus (35%), overweight (56%) and hyperlipidemia (44%). Insulin resistance (IR), determined by homeostasis model assessment (HOMA) was confirmed in 70% patients with NAFLD and 42% patients fulfilled the minimum criteria for insulin resistance syndrome (IRS). NAFLD patients showed elevated levels of pro-inflammatory cytokines tumor necrosis factor (TNF)-α, and interleukin (IL)-6, while anti-inflammatory cytokines IL-4 level decreased and IL-10 level remain unchanged; however, TGF-β1 level elevated significantly compared to normal subjects. While insulin level and HOMA-IR both were significantly positively correlated with BMI, waist-to-hip ratio, total cholesterol, VLDL-cholesterol, triglyceride and TGF-β1; glucose, IL-6 and TNF-α levels were significantly positively correlated with HOMA-IR only. In conclusion, pro-inflammatory cytokines play an important link between metabolic and liver disorders in the fat accumulation, and thereby cause IR, inflammation and liver fibrosis.  相似文献   

15.
杨高杰  苏之盟 《大众科技》2014,(11):151-153
腰椎失稳症是脊柱外科的常见病和多发病,它主要包括峡部裂性腰椎滑脱症（isthmic spondylolisthesis,ISS）和退变性腰椎滑脱症（degenerative spondylolisthesis,DSS）两种类型,后者又被称为非峡部裂性腰椎滑脱症。此类患者通过手术治疗,能够恢复椎间高度和腰椎生理前凸、重建脊柱的力学稳定,从而达到临床治愈或缓解,是获得临床远期疗效的关键。王岩[1]认为脊柱融合术具有防止内植物失败和维持长期疗效等优点,是目前公认的治疗脊柱疾患的金标准。文章旨在总结腰椎失稳症手术治疗有关文献,探讨各种术式的利弊,为临床提供有益参考。  相似文献   

16.
Urinary abnormalities were evaluated in 100 renal stone patients with first episode of renal stone having age 22 to 45 years from both sex and compared to 100 normal healthy control group having same age group from both sex. Twenty-four hours urinary oxalate, calcium, uric acid, sodium, magnesium, phosphorus and citrate were estimated. The urinary pH was also determined. In stone formers urinary oxalate, calcium, sodium and uric acid excretions were significantly higher when compared with control group. Whereas citrate, phosphate and magnesium excretion were significantly lower in stone formers when compared with control. The pH of urine in stone formers was lower than the controls. High dietary intake of purine rich diet causes elevated excretion of uric acid, which leads to calcium oxalate crystal formation and precipitation. Other risk factors such as urinary oxalate, calcium also related to formation of renal calculi. Hypocitraturia is the main cause of renal calculi along with hypomagnesiuria and hypophosphaturia in the patient of Marathwada region. On the basis of urinary abnormalities further stone formation in the patient can be prevented by dietary modifications.  相似文献   

17.
Cystatin C is an emerging parameter for the assessment of renal allograft function. The objective of the study was to compare the efficacy of serum cystatin C (SCys) with the established parameter serum creatinine (SCr) in the assessment of renal function in renal transplant recipients (RTR). The glomerular filtration rate (GFR) of 30 renal transplant patients and 29 control subjects was determined using 99mTc Diethylene-triamine-penta-acetate (DTPA) method. SCr was measured using an automated Jaffe’s assay and SCys was measured using latex particle enhanced turbidimetric immuno assay (PETIA). The modification of diet in renal disease (MDRD) formula was used to calculate GFR from SCr, while the Le Bricon formula was used to derive GFR based on SCys. Statistical analysis was performed using MedCalc software. SCr and SCys levels were significantly higher, while DTPA clearance was significantly lower in RTR (P < 0.0001) when compared with controls. The correlation coefficient (r value) between calculated GFR based on MDRD method and DTPA clearance was 0.343 (P = 0.06) while the calculated GFR based on Le Bricon formula was 0.694 (P < 0.001). The results have shown that SCys is a better parameter than SCr in assessing renal function in RTR. The inclusion of SCys as an additional parameter would certainly help in detection of even a marginal decline in renal function and also in adjusting the dosage of immunosuppressive drugs.  相似文献   

18.
Infantile tremor syndrome is seen worldwide more commonly in the developing countries. Although various protein energy malnutrition awareness programme being run in many of these countries including India yet there is persistence of this disease. Here we present a case of 13 month old female child who visited RAPCC paediatrics OPD of Govt. Wenlock Hospital Mangaluru with history of respiratory distress, fever, tremor in limbs and loss of milestones. On examination she had pallor, hyper pigmentation in axilla and toes. Investigatory findings showed megaloblastic erythroid hyperplasia, hemoglobin- 1.6 g % and CT scan of brain showed central atrophic changes.  相似文献   

19.
Glomerular filtration rate is routinely assessed by measuring the serum markers such as urea nitrogen and serum creatinine. Although these markers are widely used to assess renal function but they do not perform optimally in certain clinical settings. There is thus a practical need for an easily automated alternative to plasma creatine, which would be more specific, sensitive and reliable from the analytical and clinical view point. Compared with the above endogenous markers, and time consuming laborious tests, Cystatin C facilitates the recognition of abnormal renal function in children, as its reference range is constant beyond the 1st year of life. This review mainly focuses on the diagnostic performance of Cystatin C against other renal markers in the pediatric population and in specific subpopulations of patients.  相似文献   

20.
Exposure to various organic compounds including drugs and environmental toxins causes cellular damage through generation of free radicals. Carnosine a dipeptide was used in this study to evaluate its effect against CCl4-induced nephrotoxicity. Sixty male albino rats were involved in this study and were equally divided into four groups. CCl4 (3 ml/kg body weight; biweekly for 4 weeks) was given to group II and III. Carnosine (10 mg/kg body weight; once daily for 4 weeks) was given to group III and VI. Transforming growth factor-β1 (TGF-β1) level by immunoassay and Smad3 mRNA level by real-time PCR were estimated in addition to cytochrome P450 2E1 (CYP2E1) activity, renal functions, redox status assessment and histopathological examination of the kidney. Carnosine significantly improved kidney function, renal redox status, decreased renal CYP2E1 activity, TGF-β1 level and Smad3 gene expression when compared to CCL4-intoxicated group. The protective effect of carnosine was confirmed by histopathological study. In conclusion: carnosine has the ability to protect against CCl4-induced nephrotoxicity possibly by alleviating oxidative stress, normalizing kidney histopathological architecture in addition to the disruption of the inflammatory and fibrotic response induced by CCl4.  相似文献   

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