Nephrology最新文献

{"title":"Long-term outcome of tacrolimus-based immunosuppressive treatment for patients with paediatric-onset lupus nephritis.","authors":"Hiroshi Tanaka, Tomomi Aizawa, Morito Endo","doi":"10.1111/nep.14406","DOIUrl":"10.1111/nep.14406","url":null,"abstract":"<p><strong>Aim: </strong>We have previously reported the mid-term efficacy and safety of tacrolimus (Tac)-based immunosuppressive therapy in such patients, and herein, we aimed to determine their long-term outcomes (over 10 years).</p><p><strong>Methods: </strong>We retrospectively evaluate the data of 13 consecutive patients with biopsy-proven long-standing LN who underwent a long-term Tac-based treatment regimen. Tac was administered once daily at a dose of 3 mg as reinduction or maintenance treatment. Treatment outcomes were defined using the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), urinary protein/creatinine ratio (Up/cr), serum creatinine, estimated glomerular filtration rate (eGFR) and serological lupus markers (complement C3, complement hemolytic activity [CH 50], and anti-dsDNA antibody titre), and the concomitantly administered prednisolone (PDN) dose. Data on clinical parameters and serological lupus activity were collected annually from each patient throughout the study period.</p><p><strong>Results: </strong>The patients' baseline characteristics at the treatment initiation were as follows: mean age, 18 years; Up/cr, 0.63 ± 0.69; serum C3 level, 57.2 ± 22.4 mg/dL (normal range, 79-152 mg/dL); CH50, 27.9 ± 15.7 U/mL (normal range, 23.0-46.0 U/mL); serum anti-dsDNA antibody titre, 111.7 ± 123.4 IU/mL (normal range, <12.0 IU/mL); serum creatinine, 0.60 ± 0.19 mg/dL; eGFR, 115.6 ± 21.3 mL/min and SLEDAI, 13 ± 8.1. Despite the gradual tapering of the concomitantly administered PDN dose from 18.7 ± 13.5 mg/day at baseline to 3.5 ± 2.8 mg/day at 10 years (p = .002), a marked improvement in the outcomes, compared with the baseline values, was observed within a year. Additionally, these favourable changes persisted throughout study period in most patients. Compared with the baseline values, the following measures confirmed sustained outcome improvements after a 10-year treatment: SLEDAI, 1.7 ± 2.0; serum C3 level, 83.8 ± 16.1 mg/dL; CH50, 45.6 ± 10.9 U/mL (all p < .01) and Up/cr, 0.16 ± 0.18 and serum anti-dsDNA antibody titre, 25.8 ± 28.8 IU/mL (both p < .05). Serum creatinine level and eGFR remained within the normal range in all study participants except for one patient who experienced several flare-ups. No serious adverse effects were observed.</p><p><strong>Conclusion: </strong>Our results suggest that long-term Tac-based immunosuppressive treatment as maintenance therapy is beneficial and has low cytotoxicity. Therefore, it represents an attractive option for the treatment of selected patients with paediatric-onset LN in a real-world setting.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"901-908"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of circulating microbial DNA and its association with kidney function in patients with diabetic kidney disease.","authors":"Hoang Thuy Linh, Megumi Oshima, Keisuke Sako, Masahiro Konishi, Daiki Hayashi, Hajime Sanada, Takahiro Yuasa, Akihiko Koshino, Keisuke Horikoshi, Taichiro Minami, Shunsuke Tsuge, Akira Tamai, Shiori Nakagawa, Ryo Nishioka, Takeshi Zoshima, Kiyoaki Ito, Ichiro Mizushima, Tadashi Toyama, Norihiko Sakai, Shinji Kitajima, Miho Shimizu, Takashi Wada, Yasunori Iwata","doi":"10.1111/nep.14408","DOIUrl":"10.1111/nep.14408","url":null,"abstract":"<p><strong>Aim: </strong>Recently, substantial studies have been accumulated to indicate the important role of gut microbiota in diabetic kidney disease (DKD). The abnormal change of bacterial-derived products could imply specific injuries or play beneficial or harmful roles in DKD progression. In this study, we examined the presence and contribution of the Klebsiella oxytoca gene in the circulation of patients with DKD.</p><p><strong>Method: </strong>We enrolled a total of 16 healthy participants, 17 patients with DKD, 5 patients with DKD requiring haemodialysis (HD), and 7 patients with CKD without diabetes. Bacterial-derived DNA (16S rDNA and a specific K. oxytoca gene) in the blood was detected using droplet digital PCR, then investigated the relationship with clinical characteristics.</p><p><strong>Results: </strong>We identified an increase in K. oxytoca genes in the blood of DKD patients. Interestingly, blood K. oxytoca copies and K. oxytoca/ 16S DNA ratio correlated with higher blood creatinine and BUN levels together with lower eGFR in DKD patients. K. oxytoca levels were also associated with higher neutrophil percentage, lower lymphocyte frequency, and increased neutrophil-to-lymphocyte ratio.</p><p><strong>Conclusion: </strong>Collectively, the presence of the K. oxytoca gene in the circulation could serve as a biomarker reflecting reduced renal function in DKD patients.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"909-916"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association of statin use with in-hospital mortality in patients with acute kidney injury during hospitalization: A retrospective analysis.","authors":"Xi-Zi Zheng, Yi-Dan Zhu, Ling-Er Tang, Qing-Qing Zhou, Ling-Yi Xu, Da-Min Xu, You-Lu Zhao, Ji-Cheng Lv, Li Yang","doi":"10.1111/nep.14411","DOIUrl":"10.1111/nep.14411","url":null,"abstract":"<p><strong>Aim: </strong>Acute kidney injury (AKI) is a severe condition in hospitalized patients and carries high mortality. The influence of statin use on the outcomes of AKI patients remains inconsistent. We aimed to discover the association between statin use and in-hospital mortality.</p><p><strong>Methods: </strong>This retrospective study screened all adult admissions in Peking University First Hospital between 1 January 2018 and 31 December 2020, and patients with AKI during hospitalization were included. Exposure was defined as any statin prescription prior to AKI onset. Patients were followed up until death or discharge. The primary outcome was in-hospital all-cause mortality; secondary outcomes included cardiovascular- and sepsis-related mortality, elevated transaminases, rhabdomyolysis and kidney nonrecovery at discharge.</p><p><strong>Results: </strong>A total of 2034 AKI patients were included. 551 (27%) patients were statin users. During a median of 10 days of follow-up, we documented 283 (14%) in-hospital deaths. Compared with statin nonusers, statin users experienced a significantly lower risk in in-hospital all-cause mortality (adjust hazard ratio [aHR], 0.54; 95% CI, 0.35-0.84) and cardiovascular-related mortality (aHR, 0.48; 95% CI, 0.24-0.97) after covariate adjustment. The survival benefit of statin use was consistent across subgroups, that is, age, sex, initial AKI stage and major surgery (all P for heterogeneity >.05). For sepsis-related mortality, elevated transaminases, rhabdomyolysis and kidney nonrecovery, the association was no longer significant in the fully adjusted model. For any type of statins, a statistically significant association was only observed in atorvastatin (aHR, 0.49; 95% CI, 0.30-0.81).</p><p><strong>Conclusions: </strong>Statin use may improve survival, and atorvastatin may be preferred in patients with AKI.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"849-857"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An increasing trend of overweight and obesity in the Japanese incident end-stage kidney disease population.","authors":"Minako Wakasugi, Shin Goto","doi":"10.1111/nep.14410","DOIUrl":"10.1111/nep.14410","url":null,"abstract":"<p><strong>Aim: </strong>The global prevalence of overweight/obesity has been rising, and this trend is apparent in US and European incident end-stage kidney disease (ESKD) populations. We aimed to examine temporal trends in the prevalence of overweight/obesity and underweight among adult incident ESKD patients in Japan by year of dialysis initiation between 2006 and 2019 in comparison with those observed in the Japanese adult population during the same period.</p><p><strong>Methods: </strong>Using data from the Japanese Society of Dialysis Therapy Renal Data Registry and the National Health and Nutrition Survey, the sex-specific prevalence of overweight/obesity and that of underweight (BMI ≥ 25 kg/m² and <18.5 kg/m², respectively) were calculated, adjusted for age according to the 2019 Population Census via the direct method. Average annual percentage changes (AAPCs) and corresponding 95% confidence intervals (CIs) were calculated to examine trends.</p><p><strong>Results: </strong>From 2006 to 2019, the age-adjusted prevalence of overweight/obesity in the incident ESKD population increased for males (AAPC 3.36 [95% CI, 2.70 to 4.09]) and females (AAPC 2.86 [95% CI, 1.65 to 4.19]). The age-adjusted prevalence of overweight/obesity in the general population increased for males (AAPC 0.87 [95% CI, 0.26 to 1.42]) but not for females (AAPC 0.01 [95% CI, -0.55 to 0.57]). The age-adjusted prevalence of underweight in the incident ESKD population significantly decreased but was higher than that in the general population for both sexes.</p><p><strong>Conclusion: </strong>An increasing trend of overweight/obesity was observed in the incident ESKD population in Japan. There is a pressing need to address both underweight and overweight/obesity in the incident ESKD population.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"884-894"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11579560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Renin-angiotensin blockade ameliorates the progression of glomerular injury in podocyte-specific Ctcf knockout mice.","authors":"Keisuke Fujioka, Takashi Nagai, Tomoki Hattori, Shoji Kagami, Koji Yasutomo, Niels Galjart, Teruyoshi Hirayama, Hiroshi Kawachi, Maki Urushihara","doi":"10.1111/nep.14400","DOIUrl":"10.1111/nep.14400","url":null,"abstract":"<p><strong>Aim: </strong>Several studies have shown that the progression of proteinuria and renal tissue injury is associated with activation of the intrarenal renin-angiotensin system (RAS). CCCTC-binding factor (CTCF) is a DNA-binding factor that plays an essential role in the regulation of gene expression. In the present study, we aimed to investigate the phenotypic effects of CTCF deficiency in podocytes.</p><p><strong>Methods: </strong>Angiotensin II type 1 receptor blockers (ARBs) were administered to the podocyte-specific Ctcf knockout mice, and histological and biochemical analyzes were performed. We also investigated the changes in the expression of podocin in podocyte cell cultures with or without stimulation with angiotensin II from glomeruli isolated using magnetic beads from podocyte-specific Ctcf knockout mice.</p><p><strong>Results: </strong>Mice in which Ctcf was deleted from podocytes developed glomerulopathy and mice developed severe progressive proteinuria, and impaired renal function. Moreover, ARBs suppressed the development of glomerulopathy in podocyte-specific Ctcf knockout mice. Both real-time polymerase chain reaction and western blotting showed that podocin expression was decreased in cell cultures stimulated with angiotensin II. Furthermore, RAS components gene expressions in podocyte cell cultures isolated from podocyte-specific Ctcf knockout mice were significantly increased.</p><p><strong>Conclusion: </strong>These results suggest that RAS is involved in the development of glomerulopathy in podocyte-specific Ctcf knockout mice. Elucidation of the pathophysiology of podocyte-specific Ctcf knockout mice may provide new insights into the relationship between podocyte injury and chronic glomerulonephritis.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"815-824"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An unusual case of Herbaspirillum huttiense bacteraemia in a haemodialysis patient.","authors":"Andrew M Fordyce, Frederiek Heenan-Vos, Tracey L Putt, Sine Donnellan, John W B Schollum, Robert J Walker","doi":"10.1111/nep.14385","DOIUrl":"10.1111/nep.14385","url":null,"abstract":"<p><p>Herbaspirillum spp. is a common environmental bacterium usually found in soil, plant roots, and water. It is rarely associated with infection in immunocompromised patients, and rarely reported infections in immunocompetent patients. We report the first case of a Herbaspirillum huttiense bacteraemia in a non-neutropenic home haemodialysis patient. A 57-year-old male presented to our hospital with a 3-day history of malaise, fevers, rigours, and anorexia following dialysis through his central line. On examination, he was pyrexic (temperature 38.7°C) with splinter haemorrhages noted, but no other signs of infection were present. Blood cultures revealed a polymicrobial infection, with Serratia liquefaciens and Corynebacterium jeikeium isolated from the central line and Herbaspirillum sp. was isolated from both the central line and a peripheral culture. A later peripheral blood culture following central line removal isolated Herbaspirillum huttiense. Regular biological testing of his home water supply and dialysate detected no colony forming units of non-fermenting gram-negative bacilli. He was initially treated with ceftriaxone and vancomycin initially, followed by ertapenem and vancomycin. Intravenous antibiotics were ceased following 5 days after central line removal and he made an uneventful recovery.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"960-963"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11579563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of single centre kidney-exchange transplantation to increase living donor pool in India: A cohort study involving non-anonymous allocation.","authors":"Vivek B Kute, Himanshu V Patel, Subho Banerjee, Divyesh P Engineer, Ruchir B Dave, Nauka Shah, Sanshriti Chauhan, Harishankar Meshram, Priyash Tambi, Akash Shah, Khushboo Saxena, Manish Balwani, Vishal Parmar, Shivam Shah, Ved Prakash, Sudeep Patel, Dev Patel, Sudeep Desai, Jamal Rizvi, Harsh Patel, Beena Parikh, Kamal Kanodia, Shruti Gandhi, Michael A Rees, Alvin E Roth, Pranjal Modi","doi":"10.1111/nep.14380","DOIUrl":"10.1111/nep.14380","url":null,"abstract":"<p><strong>Aim: </strong>In India, 85% of organ donations are from living donors and 15% are from deceased donors. One-third of living donors were rejected because of ABO or HLA incompatibility. Kidney exchange transplantation (KET) is a cost-effective and legal strategy to increase living donor kidney transplantation (LDKT) by 25%-35%.</p><p><strong>Methods: </strong>We report our experience with 539 KET cases and the evolution of a single-centre program to increase the use of LDKT.</p><p><strong>Results: </strong>Between January 2000 and 13 March, 2024, 1382 deceased donor kidney transplantations and 5346 LDKT were performed at our centre, including 10% (n = 539) from KET. Of the 539 KET, 80.9% (n = 436) were ABO incompatible pairs, 11.1% (n = 60) were compatible pairs, and 8% (n = 43) were sensitized pairs. There were 75% 2-way (n = 2 × 202 = 404), 16.2% 3-way (n = 3 × 29 = 87), 3% 4-way (n = 4 × 4 = 16), 1.8% 5-way (n = 5 × 2 = 10), 2.2% 6-way (n = 6 × 2 = 12), and 1.8% 10-way KET (n = 10 × 1 = 10). Of the recipients 81.2% (n = 438) were male and 18.8% (n = 101) were female, while of the donors, 78.5% (n = 423) were female and 21.5% (n = 116) were male. All donors were near relatives; wives (54%, n = 291) and mothers (20%, n = 108) were the most common donors. At a median follow-up of 8.2 years, patient survival, death censored graft survival, acute rejection, and median serum creatinine levels of functioning grafts were 81.63% (n = 440), 91% (n = 494), 9.8% (n = 53) and 1.3 mg/dL respectively. We credited the success to maintaining a registry of incompatible pairs, high-volume LDKT programs, non-anonymous allocation and teamwork.</p><p><strong>Conclusion: </strong>This is the largest single-centre KET program in Asia. We report the challenges and solutions to replicate our success in other KET programs.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"917-929"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.","authors":"Xiaoyu Liu, Wenchao Sheng, Nan Liu, Wenxuan Fan, Shuyue Zhang, Yuanyuan Sun, Yingzi Cai, Dong Li, Jianbo Shu, Chunquan Cai","doi":"10.1111/nep.14401","DOIUrl":"10.1111/nep.14401","url":null,"abstract":"<p><strong>Introduction: </strong>Autosomal recessive polycystic kidney disease (ARPKD) ranks among the most severe chronic kidney diseases (CKD). Its primary cause is variants in the Polycystic Kidney and Hepatic Disease 1 gene (PKHD1). The clinical spectrum of ARPKD varies widely, ranging from mild late-onset symptoms to severe perinatal mortality. However, achieving an early genetic diagnosis in ARPKD patients before clinical symptoms appear proves challenging.</p><p><strong>Case presentation: </strong>This case is a 4-year-old boy who experienced a convulsion characterized by a generalized tonic attack lasting approximately 3-5 minutes and later sought treatment to our hospital. However, routine abdominal ultrasound examination accidentally detected that he had diffuse liver lesions, splenomegaly, and bilateral renal enlargement with renal pelvis dilation. Given the uncertainty regarding the underlying cause of the patient's structural abnormalities and convulsions, karyotyping, whole exome sequencing (WES), structural variant analysis (SV analysis) of whole genome sequencing (WGS) were recommended. The result of SV analysis revealed that he has an RBT impacting PKHD1 and the precise location of breakpoints was confirmed through Long-Range Polymerase Chain Reaction (LR-PCR). However, WES did not screen out pathogenic variants initially, the WES data was reviewed subsequently based on SV analysis results.</p><p><strong>Conclusion: </strong>We identified an infrequent variant combination, c.2507T>C (p.V836A) in PKHD1 and an RBT with broken PKHD1, which extends the genetic spectrum of ARPKD, and provide a basis for further genetic counselling to the family.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"990-995"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NELL-1 membranous nephropathy due to mercury exposure from fairness cream: Report of two cases.","authors":"Pankaj Jawandhiya, Ankur Gupta","doi":"10.1111/nep.14403","DOIUrl":"10.1111/nep.14403","url":null,"abstract":"<p><p>Mercury contained in beauty-enhancing cosmetics can cause chronic poisoning and membranous nephropathy (MN). We report two cases of nephrotic syndrome caused by MN with evidence of mercury poisoning due to the application of fairness cream in a short duration of a few months. The individuals were positive for neural epidermal growth factor-like 1 [NELL-1]. Discontinuation of the use of cosmetic products and modified Ponticelli regimen improved the nephrotic state in these individuals. We suggest that mercury poisoning should be considered in NELL-1-positive individuals with a history of application of beauty products.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"996-999"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.","authors":"Lianlian Yang, Guang Yang, Hui Guo","doi":"10.1111/nep.14399","DOIUrl":"10.1111/nep.14399","url":null,"abstract":"<p><p>Alport syndrome (AS) is one of the most common inherited kidney disorders, involving pathogenic variants of COL4A3, COL4A4 and COL4A5 genes that lead to disruption of the normal structure of collagen IV protein through improper chain or heterotrimer folding or degradation of heterotrimer components. Lipoprotein glomerulopathy (LPG) is an autosomal dominant disease involving APOE gene mutations disturbing lipoprotein metabolism. We report the first case with both AS and LPG in an 11-year-old girl. The patient presented with blepharedema, and decreased vision. Laboratory examinations showed hematemesis, proteinuria, hypoproteinemia, hyperlipidemia and progressive renal failure. Renal biopsy showed the changes of LPG and AS. Whole-exome sequencing (WES) identified two pathogenic variants, c.127C > T in exon 3 of APOE gene, and c.930 + 1G > A in exon 15 of COL4A4 gene. We emphasize the importance of early completion of renal biopsy and WES for early diagnosis of LPG and AS.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"985-989"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}