Nephron最新文献

{"title":"Association of Serum Free Light Chain Level with Long-Term Kidney Function in Patients with Newly Diagnosed Multiple Myeloma.","authors":"Paolo Lopedote, Juliano Alhaddad, Guoliang Zheng, Mu'taz Abualshar, Shree Ghanta, Olga Kozyreva, Bertrand L Jaber","doi":"10.1159/000535876","DOIUrl":"10.1159/000535876","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple myeloma (MM) frequently involves the kidneys, resulting in acute, subacute, or chronic kidney disease (CKD). Patient- and treatment-related factors are associated with the long-term development of CKD. The aim of our study was to examine the association of serum free light chain (FLC) levels, measured at the time of diagnosis of MM, and CKD at subsequent follow-up.</p><p><strong>Methods: </strong>Patients with newly diagnosed MM were identified using cancer registries at five hospitals. The primary outcome was low eGFR (&lt;60 mL/min/1.73 m2) or dialysis dependence and a secondary composite outcome of low eGFR, dialysis dependence, or death at the last follow-up, up to 12 months from diagnosis. Logistic regression analyses were performed.</p><p><strong>Results: </strong>A total of 149 patients met the inclusion criteria. Patients with an FLC level above the median had a higher frequency of hypertension (54% vs. 81%; p &lt; 0.001), hyperlipidemia (37% vs. 56%; p = 0.018), low eGFR at the time of diagnosis (43% vs. 66%; p = 0.006), and a higher MM stage (p = 0.018). On multivariable analyses, after adjustment for several covariates, serum FLC level (per each 100 mg/L) was independently associated with low eGFR or dialysis dependence at follow-up (adjusted odds ratio [aOR] 1.021; 95% CI: 1.002, 1.041; p = 0.033). This association persisted for the composite outcome of low eGFR, dialysis dependence, or death (aOR 1.034; 95% CI: 1.006, 1.063; p = 0.018).</p><p><strong>Discussion/conclusion: </strong>Higher serum FLC level measured at the time of MM diagnosis is independently associated with CKD at up to 12 months of follow-up.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"399-407"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138797626","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 Complement C3a and C5a Signaling in Renal Diseases: A Bridge between Acute and Chronic Inflammation.","authors":"Simona Buelli, Barbara Imberti, Marina Morigi","doi":"10.1159/000538241","DOIUrl":"10.1159/000538241","url":null,"abstract":"<p><p>The complement system, a cornerstone of the innate immune defense, typically confers protection against pathogens. However, in various clinical scenarios the complement's defensive actions can harm host cells, exacerbating immune and inflammatory responses. The central components C3 and C5 undergo proteolytic cleavage during complement activation, yielding small active fragments C3a and C5a anaphylatoxins. Traditionally, these fragments were associated with inflammation via the specific receptors C3a receptor (R), C5aR1 and C5aR2. Recent insights, however, spotlight the excessive C3a/C3aR and C5a/C5aR1 signaling as culprits in diverse disorders of inflammatory and autoimmune etiology. This is particularly true for several kidney diseases, where the potential involvement of anaphylatoxins in renal damage is supported by the enhanced renal expression of their receptors and the high levels of C3a and C5a in both plasma and urine. Furthermore, the production of complement proteins in the kidney, with different renal cells synthesizing C3 and C5, significantly contributes to local tissue injury. In the present review, we discuss the different aspects of C3a/C3aR and C5a/C5aR signaling in acute and chronic kidney diseases and explore the therapeutic potential of emerging targeted drugs for future clinical applications.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"712-723"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140059973","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":"Hospital Readmissions for Fluid Overload among Individuals with Diabetes and Diabetic Kidney Disease: Risk Factors and Multivariable Prediction Models.","authors":"Jiashen Cai, Dorothy Huang, Hanis Binte Abdul Kadir, Zhihua Huang, Li Choo Ng, Andrew Ang, Ngiap Chuan Tan, Yong Mong Bee, Wei Yi Tay, Chieh Suai Tan, Cynthia C Lim","doi":"10.1159/000538036","DOIUrl":"10.1159/000538036","url":null,"abstract":"<p><strong>Aims: </strong>Hospital readmissions due to recurrent fluid overload in diabetes and diabetic kidney disease can be avoided with evidence-based interventions. We aimed to identify at-risk patients who can benefit from these interventions by developing risk prediction models for readmissions for fluid overload in people living with diabetes and diabetic kidney disease.</p><p><strong>Methods: </strong>This was a single-center retrospective cohort study of 1,531 adults with diabetes and diabetic kidney disease hospitalized for fluid overload, congestive heart failure, pulmonary edema, and generalized edema between 2015 and 2017. The multivariable regression models for 30-day and 90-day readmission for fluid overload were compared with the LACE score for discrimination, calibration, sensitivity, specificity, and net reclassification index (NRI).</p><p><strong>Results: </strong>Readmissions for fluid overload within 30 days and 90 days occurred in 8.6% and 17.2% of patients with diabetes, and 8.2% and 18.3% of patients with diabetic kidney disease, respectively. After adjusting for demographics, comorbidities, clinical parameters, and medications, a history of alcoholism (HR 3.85, 95% CI: 1.41-10.55) and prior hospitalization for fluid overload (HR 2.50, 95% CI: 1.26-4.96) were independently associated with 30-day readmission in patients with diabetic kidney disease, as well as in individuals with diabetes. Additionally, current smoking, absence of hypertension, and high-dose intravenous furosemide were also associated with 30-day readmission in individuals with diabetes. Prior hospitalization for fluid overload (HR 2.43, 95% CI: 1.50-3.94), cardiovascular disease (HR 1.44, 95% CI: 1.03-2.02), eGFR ≤45 mL/min/1.73 m2 (HR 1.39, 95% CI: 1.003-1.93) was independently associated with 90-day readmissions in individuals with diabetic kidney disease. Additionally, thiazide prescription at discharge reduced 90-day readmission in diabetic kidney disease, while the need for high-dose intravenous furosemide predicted 90-day readmission in diabetes. The clinical and clinico-psychological models for 90-day readmission in individuals with diabetes and diabetic kidney disease had better discrimination and calibration than the LACE score. The NRI for the clinico-psychosocial models to predict 30- and 90-day readmissions in diabetes was 22.4% and 28.9%, respectively. The NRI for the clinico-psychosocial models to predict 30- and 90-day readmissions in diabetic kidney disease was 5.6% and 38.9%, respectively.</p><p><strong>Conclusion: </strong>The risk models can potentially be used to identify patients at risk of readmission for fluid overload for evidence-based interventions, such as patient education or transitional care programs to reduce preventable hospitalizations.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"523-535"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049969","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":"Life-Threatening Diffuse Alveolar Hemorrhage and Graft Failure in Atypical Hemolytic Uremic Syndrome with C3 Gene Mutation following Kidney Transplant.","authors":"Ji Yeon Song, Seung Hwan Oh, Younga Kim","doi":"10.1159/000535192","DOIUrl":"10.1159/000535192","url":null,"abstract":"<p><strong>Introduction: </strong>Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) disease entity primarily attributed to genetic or acquired abnormalities in the alternative complement pathway. TMA can manifest in kidney transplant (KT) recipients owing to various factors, resulting in diverse clinical presentations. Given its adverse effects on allograft function and patient prognosis, genetic diagnostic approaches for aHUS are essential. Although rarely associated with diffuse alveolar hemorrhage, only a few mild cases have been reported to date. In this report, we present a case of the patient who experienced recurrent and life-threatening diffuse alveolar hemorrhage shortly after KT accompanied by graft failure.</p><p><strong>Case presentation: </strong>An 18-year-old girl who underwent deceased donor KT developed recurrent diffuse alveolar hemorrhage with acute kidney injury, leading to graft failure. Microangiopathic hemolytic anemia, thrombocytopenia, and schistocytes in blood smears suggested the presence of TMA. The patient underwent therapeutic plasma exchange, and clinical condition improved during the procedure. Genetic testing confirmed a heterozygous c.1273C&gt;T mutation in C3 gene, leading to the diagnosis of aHUS. However, after discontinuing the plasma exchange, the patient experienced seizures, recurrent pulmonary hemorrhage, and oliguria with recurring TMA features. The patient subsequently underwent eculizumab treatment, which resulted in complete remission, although hemodialysis was continued after graft nephrectomy.</p><p><strong>Conclusion: </strong>In patients presenting with unexplained pulmonary hemorrhage and kidney injury following KT, genetic aHUS should be considered as a potential differential diagnosis for TMA.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"474-479"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11216361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138440965","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":"Self-Reported Fatigue by the Chalder Fatigue Questionnaire and Mortality in Brazilian Hemodialysis Patients: The PROHEMO.","authors":"Gabriel Brayan Gutiérrez-Peredo, Márcia Tereza Silva Martins, Fernanda Albuquerque da Silva, Marcelo Barreto Lopes, Gildete Barreto Lopes, Keith C Norris, Antonio Alberto Lopes","doi":"10.1159/000533472","DOIUrl":"10.1159/000533472","url":null,"abstract":"<p><strong>Background: </strong>The existing data support the Chalder Fatigue Questionnaire (CFQ-11) as a valid instrument to assess fatigue in maintenance hemodialysis (MHD) patients. The objective of this work was to investigate whether self-reported fatigue can serve as an independent prognostic indicator for mortality in MHD patients.</p><p><strong>Methods: </strong>The data are from 233 adult patients enrolled in the cohort \"The Prospective Study of the Prognosis of Chronic Hemodialysis Patients\" (PROHEMO) developed in Salvador, BA, Brazil. The Brazilian version of the validated CFQ-11 was used to calculate self-reported fatigue. The CFQ-11 scores may range from 0 to 33; higher scores represent more fatigue. Fatigue categories were created based on proposed cut point: absence or mild degree if CFQ-11 scores &lt;4 and moderate to severe if scores ≥4. Cox models were used to estimate the hazard ratios (HRs) and 95% confidence intervals (CIs) of associations between fatigue and mortality with adjustments for sociodemographic factors, time on dialysis, education, economic class, hemoglobin concentration, diabetes, heart failure, depression, and other psychiatric disorders.</p><p><strong>Results: </strong>The mean age was 51.5 ± 2.5 years, 58% were male, and 30% were diabetic. Self-reported moderate to severe fatigue was reported by 71% of patients. The mortality rate was 8.6 cases/100 person-years. Patients with moderate to severe fatigue had a more than threefold mortality rate (HR = 3.07, 95% CI: 1.19, 7.93) compared to patients with absent or mild fatigue, after extensive adjustments for covariates.</p><p><strong>Conclusion: </strong>The study provides evidence that self-reported fatigue can help identify MHD patients at higher risk of earlier death.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"292-299"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478206","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":"Urine Uromodulin, Kidney Tubulointerstitial Fibrosis, and Furosemide Response.","authors":"Alexander L Bullen, Sucheta Vaingankar, Magdalena Madero, Salvador Lopez Gil, Etienne Macedo, Joachim H Ix, Dena E Rifkin, Pranav S Garimella","doi":"10.1159/000534578","DOIUrl":"10.1159/000534578","url":null,"abstract":"<p><strong>Background: </strong>Interstitial fibrosis and tubular atrophy (IFTA) are common findings on biopsy in chronic kidney disease (CKD) and are strongly predictive of kidney failure. IFTA is poorly correlated with estimated glomerular filtration rate (eGFR) and albuminuria, the most common measures of kidney function. Thus, IFTA is prognostically important, yet its presence and severity are invisible to the clinician except when kidney biopsies are obtained.</p><p><strong>Objectives: </strong>The objective of this study was to investigate (1) the cross-sectional association between urine uromodulin (uUMOD) and IFTA and (2) to determine whether uUMOD levels were associated with diuretic response after a furosemide stress test.</p><p><strong>Methods: </strong>We performed logistic regression to evaluate the association between uUMOD and fibrosis. We used linear regression models to assess the association of uUMOD with diuretic response.</p><p><strong>Results: </strong>Among 52 participants, the mean age was 42 ± 16 years, 48% were women, 23% had diabetes, and the median eGFR was 56 mL/min/1.73 m2. The mean uUMOD concentration was 5.1 (8.4) μg/mL. Each halving of uUMOD was associated with 1.74 higher odds (95% CI: 1.10, 2.75) of grade 2 or 3 fibrosis. However, this association was no longer significant after adjusting for baseline eGFR and albuminuria. Each halving of uUMOD was associated with a decreased response to furosemide. This association was also no longer significant after adjusting for baseline eGFR and albuminuria.</p><p><strong>Conclusion: </strong>In a population of individuals with a wide range of kidney function undergoing clinically indicated kidney biopsies, we did not find an association between uUMOD and interstitial fibrosis or response to loop diuretics after adjusting for eGFR and albuminuria.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"443-447"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11216347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478207","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":"Arteriolar Hyalinosis Predicts the Onset of Both Macroalbuminuria and Impaired Renal Function in Patients with Type 2 Diabetes.","authors":"Akihiko Suzuki, Tatsumi Moriya, Akinori Hayashi, Madoka Matsubara, Takeshi Miyatsuka","doi":"10.1159/000535875","DOIUrl":"10.1159/000535875","url":null,"abstract":"<p><strong>Introduction: </strong>Arteriolar hyalinosis (AH) has been shown to be associated with albuminuria and GFR. In this study, we investigated whether or not index of AH (IAH) is a predictor of the onset of macroalbuminuria and impaired renal function (eGFR &lt;60 mL/min/1.73 m2 [eGFR &lt;60]) in type 2 diabetic patients with early diabetic nephropathy.</p><p><strong>Methods: </strong>The study population consisted of 35 patients with type 2 diabetes (25 men; age: 47 ± 9 years; eGFR: 92.7 ± 18.0 mL/min/1.73 m2) with normo- or microalbuminuria who underwent percutaneous renal biopsy. These patients were followed for at least 5 (18 ± 6, range: 6-28) years. The study endpoint was the onset of macroalbuminuria or eGFR &lt;60. Light and electron microscopy-based morphometric analyses were performed to quantitatively evaluate glomerular and interstitial structural changes.</p><p><strong>Results: </strong>During the observation period, 9 out of the 35 patients progressed to macroalbuminuria, and 15 out of the 35 patients developed eGFR &lt;60. The annual rate of eGFR decline was significantly correlated with IAH (r = -0.40, p = 0.016). Kaplan-Meier analysis demonstrated that AH was associated with a significantly higher risk of onset of macroalbuminuria and eGFR &lt;60, and microalbuminuria is associated with the onset of macroalbuminuria but not the onset of eGFR &lt;60.</p><p><strong>Conclusions: </strong>Aggravated AH is a histological risk factor which predicts the onset of macroalbuminuria and eGFR &lt;60 in patients with type 2 diabetes. These findings provide novel insights into the mechanism of progression of diabetic nephropathy.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"390-398"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11151987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830667","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":"Continuous Erythropoietin Receptor Activator for the Treatment of Chronic Dialysis Patients with Renal Anemia in Daily Clinical Practice in Poland: A Non-Interventional, Multi-Center, Pragmatic NAVIGO Trial.","authors":"Michał Nowicki, Maciej Drożdż, Jarosław Wajda, Wiesław Klatko, Agnieszka Segiet-Święcicka","doi":"10.1159/000534070","DOIUrl":"10.1159/000534070","url":null,"abstract":"<p><strong>Background: </strong>Renal anemia is one of the most common complications of chronic kidney disease (CKD). This real-life study assessed the effectiveness of methoxy polyethylene glycol-epoetin beta, a continuous erythropoietin receptor activator (C.E.R.A.), for the treatment of CKD-associated anemia in patients receiving dialysis in daily clinical practice.</p><p><strong>Methods: </strong>247 patients receiving chronic intermitted dialysis in 26 centers in Poland with CKD-associated symptomatic anemia, ESA-naïve, and with balanced iron stores in the investigators' opinion were enrolled this real-life study. Over 12 months, the following data were collected: hemoglobin (Hb) concentration and dosage, route of administration and dosing scheme of C.E.R.A., dialysis adequacy, adverse events, iron therapy, and blood transfusions.</p><p><strong>Results: </strong>During the treatment, a Hb concentration of ≥10 g/dL was noted in 90.9% of hemodialysis patients (n = 224) and 96.0% of peritoneal dialysis patients (n = 23). At baseline, 7.8% of patients had a Hb concentration of 10-12 g/dL, which increased to 63.3% after 12 months. The median time when Hb concentration was maintained within 10-12 g/dL was 115.2 (interquartile range 49.1-188.7) days. A Hb concentration ≥12 g/dL was observed after 7 months of treatment in a maximum of 24.1% of hemodialysis patients, and 31.8% of peritoneal dialysis patients. The median time elapsed between the start of treatment and the first Hb concentration &gt;10 g/dL was 42.0 (21.0-78.2) days. C.E.R.A. was well tolerated.</p><p><strong>Conclusions: </strong>C.E.R.A. corrects CKD-associated anemia in dialysis patients, and maintains Hb levels within the recommended target range. The study also confirmed the acceptable safety profile of the drug.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"104-112"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10860886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233676","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":"Validation of the European Kidney Function Consortium Equation in Chinese Adult Population: An Equation Standing on the Shoulders of Predecessors.","authors":"Yao Ma, Lu Wei, Zhenzhu Yong, Yue Yu, Yi Chen, Bei Zhu, Weihong Zhao","doi":"10.1159/000531030","DOIUrl":"10.1159/000531030","url":null,"abstract":"<p><strong>Background: </strong>Equations based on serum creatinine (SCr) have been extensively applied to estimate glomerular filtration rate (GFR), but their performance is debatable. In 2021, the European Kidney Function Consortium (EKFC) published one novel SCr-based formula, which combined the feature of Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) and full age spectrum (FAS) equations, but its potential applications remain unknown. We seek to assess the appropriateness of the three equations in Chinese adults.</p><p><strong>Methods: </strong>A total of 3,692 participants (median age, 54 years) were included. Reference GFR (rGFR) was measured by the 99mTc-DTPA renal dynamic imaging method. Estimated GFR (eGFR) was calculated by the CKD-EPI, FAS, and EKFC equations. Correlation coefficients and Bland-Altman analysis were adopted to evaluate their validity. The performance was assessed in subgroups according to age, sex, rGFR, and SCr, considering the bias, accuracy, and precision.</p><p><strong>Results: </strong>The average rGFR was 74.2 mL/min/1.73 m2. eGFR by EKFC showed a relatively stronger correlation with rGFR (R = 0.749) and a larger area under the receiver operating characteristic curve (0.902). EKFC was significantly less biased and exhibited the highest P30 in the entire population (bias = 3.61, P30 = 73.3%). It also performed well in all analyzed subgroups, especially in participants with normal or slightly impaired renal function (rGFR≥60 mL/min/1.73 m2), and low SCr.</p><p><strong>Conclusions: </strong>Compared to the other two SCr-based formulas, EKFC performed better in the Chinese. Thus, it might serve as a good alternative, until a more suitable formula is developed for the Chinese population.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"63-73"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9624087","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":"Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy.","authors":"Ahmet Burak Dirim, Seda Safak, Mehmet Cihan Balci, Pelin Ozyavuz, Nurane Garayeva, Tarik Onur Tiryaki, Ozgur Akin Oto, Yasemin Ozluk, Isin Kilicaslan, Seyhun Solakoglu, Ayse Serra Artan, Halil Yazici, Aydin Turkmen, Savas Ozturk","doi":"10.1159/000533417","DOIUrl":"10.1159/000533417","url":null,"abstract":"<p><strong>Background: </strong>Although most patients with atypical hemolytic uremic syndrome (aHUS) have variants in genes participating in alternative complement pathways, rare variants in non-complement pathway-related genes, including DGKE, INF2, MMACHC, PLG, and THBD, have also been described.</p><p><strong>Case presentation: </strong>We report an 18-year-old male patient with renal biopsy-proven chronic thrombotic microangiopathy that raised suspicion of aHUS. Whole-exome sequencing revealed a novel pathogenic homozygous MMACHC c.484G&gt;T (p.Gly162Trp) variant. Subsequently, clinical and laboratory findings confirmed cobalamin C (Cbl C) deficiency. Also, homozygous missense c.1112C&gt;T PLG (p.Thr371Ile) variant was detected (it had been reported as a variant of unknown significance). However, the low serum plasminogen (PLG) activity proved the pathogenicity of c.1112C&gt;T. Hence, the patient was diagnosed with concurrent Cbl C and PLG deficiencies. Segregation analysis revealed that the mother and father had the same heterozygous PLG and MMACHC variants. PLG variants have generally been described in aHUS patients concomitant with complement gene variants in the literature; therefore, the association between aHUS and PLG variants is controversial. The possible contribution of PLG deficiency to thrombotic microangiopathy was also discussed in this case.</p><p><strong>Conclusion: </strong>Non-complement-mediated aHUS is an exceptional disorder. A limited number of genes are involved in this entity. To our knowledge, this is the first aHUS patient diagnosed with both Cbl C and PLG deficiencies in the literature.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"54-62"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10058545","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}