Hereditary nephropathy is a progressive fatal renal disease caused by genetic changes. In this study, genetic screening was used to reveal mutations in a family in Southern China, in which there are two patients with confirmed hereditary nephropathy, who are alive at the time of publication. Imaging tests, including color Doppler ultrasonography and magnetic resonance imaging (MRI), as well as pathological examinations, including hematoxylin‑eosin staining, electron microscopy and immunohistochemistry were performed. Target sequencing of nephrosis 2 (NPHS2), wilms tumor 1 (WT1), phospholipase C ε 1 (PLCE1), actinin α 4 (ACTN4), angiotensin I converting enzyme (ACE), uromodulin (UMOD) and nephrocystin 1 (NPHP1) was also carried out. This study indicated that heterozygous genetic variants of NPHS2, WT1, ACTN4, PLCE1 and UMOD found in the patients were gene polymorphisms. A renal biopsy showed sclerosing glomerulonephritis, dilated tubules and lymphocyte/monocyte infiltration in the interstitium of the index patients. Genetic analysis showed vertical transmission of the disease‑causing mutations, including a homozygous deletion in NPHP1 and a nonsense mutation in ACE found via PCR‑based single nucleotide polymorphism screening. Further network analysis identified direct and indirect co‑location genes between NPHP1 and ACE. To conclude, familial adolescent nephronophthisis was diagnosed in two index patients in this study. It is recommended that comprehensive gene mutation screening is used in the diagnosis of complex hereditary diseases.
Patients with chronic kidney disease often experience protein-energy wasting.The clinical manifestations performs include the abnormality of nutrient intake,biochemical index,body mass index,and muscle mass.Protein-energy wasting always results from decreased dietary intake,inflammation,metabolic acidosis,hormone level disorder,dialysis related factors,social psychological factors and so on,and seriously affects the prognosis and survival rates of patients with chronic kidney disease.Therefore,early detection,diagnosis and prevention and cure are very important.Nutritional evaluation should be included in daily diagnosis and treatment in patients with chronic kidney diseases.Contrasting diagnostic criteria,prevention and control of protein-energy wasting with early diagnosis and taking various measures will improve the prognosis and survival rate of patients with chronic kidney disease ultimately.Thus,the aim is to improve the patients' understanding of epidemiological characteristics,pathogenesis,assessment,treatment and intervention measures of protein-energy wasting in patients with chronic kidney disease.
Key words:
Protein-energy wasting; Chronic kidney disease
Background: Hyperuricemia has been an independent risk factor for diabetic kidney disease. Previous studies showed that hyperuricemia may induce interstitial infiltration of macrophages and activates its NLRP3 inflammasome. Meanwhile, there has been proved that an inner NLRP3 system exists in human tubular epithelia. Here we try to find how glucose and uric acid (UA) affect NLRP3 inflammasome in cultivating tubular epithelia. Methods: HK-2 cells were cultivated. Experiment was designed according to a 2×3×2 multifactorial style. Double glucose concentrations (5.5MM and 25MM) crossed with three escalated UA concentration (0MM, 0.2MM, and 0.4MM), as well as Mcc950 (0MM and 0.1MM), an specific blocker for NLRP3 inflammasome. Morphology of HK-2 cells were observed. Supernatant concentrations and gene expressions of pivotal factors involved in NLRP3 inflammasome pathway including NLRP3, ASC, caspase-1, IL-1β and IL-18 were detected. Results: 1) Morphology: As concentrations of glucose and UA increased, HK-2 cells obviously became floating and fragmental. 2) Genes: Except for Caspase-1, gene expressions of other four components were significantly inhibited in hyperglycemic state. Expressions of five genes were all decreased in euglycemic but unchanged in hyperglycemic state when UA increased. Mcc950 treatment significantly increased gene expressions of NLRP3, ASC, IL-1β and IL-18 in euglycemic but kept them unchanged in hyperglycemic state as UA increased. 3) ELISA: Supernatant IL-1β and IL-18, two effector molecules of NLRP3 inflammasome, were significantly decreased after stimulation with increased glucose or UA cascade. Interestingly, Mcc950 treatment further decreased concentrations of two molecules when UA stepwisely increased. Conclusions: The inner NLRP3 inflammasome counter-regulates effects of hyperglycemia and hyperuricemia. Mcc950 may block the downstream points to reduce IL-1β and IL-18 production directly. Disclosure C. Ciying: None. J. Ran: None. C. Chen: None. P. Zhu: None. R. Tan: None. Y. Liu: None. Funding Guangdong Science and Technology Project Fund (2014B030303002); Guangdong Provincial Academician Workstation Fund (2017B090904027)
Knowledge concerning nutritional status of patients with chronic kidney disease (CKD) is limited. Nutritional Risk Screening-2002 (NRS-2002) has been used to evaluate the nutritional aspects of patients according to the recommendation of European Society for Clinical Nutrition and Metabolism. Here we aim to assess the prevalence and characteristics of nutritional risk in CKD patients by using NRS-2002. NRS-2002 scores of 292 CDK patients were recorded in first 24 hours subsequent to their admission to hospital. All patients have never been on dialysis. BMI, weight and various biochemical parameters were also characterized for these patients. Possible correlations between these parameters and NRS-2002 score were investigated. The overall prevalence of nutritional risk was 44.9% (53.6% in CKD stage 4-5 patients and 38.3% in stage 1-3 patients). Statistically significant differences were found in serum Albumin, Haemoglobin B, and lymphocyte counts between patients with or without increased nutritional risk. Under the situation that attending physicians were completely unaware of NRS-2002 scores, only 35.1% of the patients at risk received nutritional support. The nutritional risk status was associated with CKD stages but independent from primary diagnosis type. More attention should be paid to the nutritional status in CKD patients (including early stage patients). We recommended using NRS-2002 for nutritional risk assessment among non-dialysis CKD patients in routine clinical practice. 目前人们对于慢性肾脏病患者（CKD）的营养状况了解非常有限。根据欧洲 临床营养与代谢协会推荐，营养风险筛查标准NRS-2002 已被广泛应用于评估 其他疾病患者的营养风险。本研究旨在利用NRS-2002 评估CKD 患者的营养 风险。我们针对292 例未经过透析的CDK 患者进行了NRS-2002 评估，记录 了他们的体重指数（BMI）和各种生化指标，并对NRS-2002 评分与各种指标 之间的相关性进行了分析。在所有样本中，处于营养风险状态的患者比例为 44.9%（CKD 4-5 级患者中比例为53.6%，1-3 级为38.3%）。血清白蛋白、血 红蛋白B 和淋巴细胞计数与患者的营养风险状态显著相关。在主治医师未得 知NRS-2002 评分的状况下，仅有35.1%存在营养风险的患者接受了营养支持 治疗。患者的营养风险状况与其初诊类型无关。本研究结果表明，临床实践 中应该重视CKD 患者（包括早期病人）的营养状况，及时给予营养治疗。我 们建议针对非透析的CKD 患者使用NRS-2002 进行营养风险评估。.
Little is known the effects of dietary quality (DQ) on kidney transplantation (KTR). We explored the associations between DQ assessed by the Chinese Diet Balance Index 2016 (DBI-16) and overweight or obesity in KTR.KTR aged 18-65 years from Guangdong Second Provincial General Hospital were participated in this cross-sectional study. Anthropometric measurements such as body weight, height, body mass index (BMI) and biochemical parameters were measured by standard methods. Dietary intake was assessed by 3-day, 24-hour food records and DQ by DBI-16. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (95% Cl) for leading to overweight in KTR by the components of DBI-16 and DQ scores.97 KTR were enrolled and divided into overweight group (BMI ≥24 kg/m2, n=35) and non-overweight group (BMI <24 kg/m2, n=62) in the study. Compared with non-overweight individuals, overweight individuals took excessive grains, cooking oils, salts and didn't meet the recommended levels of vegetable and fruit intake (p<0.05) assessed by DBI-16. The lower bound score (LBS) was positively associated with overweight (29.7±5.42) in KTR (LBS: OR: 1.099, 95% CI: 1.019-1.185, p=0.014), and the higher bound score (HBS) score was negatively related with overweight (16.0±4.85) in KTR (HBS: OR: 0.903, 95% CI: 0.822-0.992, p=0.034). Combination of LBS and HBS predicted the occurrence of overweight in KTR (AUC: 0.705, p<0.001).Unfavorable DQ, including overall excessive consumption, excessive intake of grains, cooking oils, salts and insufficient intake of vegetable and fruit, was significantly associated with the occurrence of overweight or obesity in KTR.
Significance: Under normal physiological conditions, Nrf2 undergoes ubiquitination and subsequent proteasome degradation to maintain its basal activity. Oxidative stress can trigger Nrf2 activation, prompting its translocation to the nucleus where it functions as a transcription factor, activating various antioxidant pathways, and conferring antioxidant properties.
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