Saudi Journal of Kidney Diseases and Transplantation最新文献_第4页

Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations. 肾病胱氨酸病的临床、生化和分子谱：两种新的CTNS突变。

IF 0.5

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2026-01-01 Epub Date: 2026-03-31 DOI: 10.4103/sjkdt.sjkdt_376_21

Zeinab Youssef Abdallah, Rasha Helmy, Walaa S Nazim, Marwa M Nabhan, Hanan Abdelaziz, Hala N Soliman, Ahmed K Saad, Mona Ibrahim, Amr Sobhi Gouda, Ekram Fateen, Neveen A Soliman

{"title":"Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations.","authors":"Zeinab Youssef Abdallah, Rasha Helmy, Walaa S Nazim, Marwa M Nabhan, Hanan Abdelaziz, Hala N Soliman, Ahmed K Saad, Mona Ibrahim, Amr Sobhi Gouda, Ekram Fateen, Neveen A Soliman","doi":"10.4103/sjkdt.sjkdt_376_21","DOIUrl":"10.4103/sjkdt.sjkdt_376_21","url":null,"abstract":"Background: Nephropathic cystinosis (NC) is an autosomal recessive disease. Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are identified as the molecular basis of cystinosis.Aim: To evaluate the clinical phenotype, biochemical profile, and screen for mutations in CTNS genes in NC patients.Methods: Thirteen patients from 11 unrelated families were clinically suspected, for whom biochemical evaluation and screening of pathogenic CTNS gene mutations were performed.Results: Polymorphonuclear leukocyte cells leucocytes cystine assay range 4-13 nmol ½ cystine/mg proteins and median 5.5 nmol ½ cystine/mg proteins at follow up. Eight patients (66.6%) had high activity of chitotriosidase (101-417 umol/l/h, median 139.5), compared with normal subjects (4-80 nmol/l/h, mean 23 nmol/l/h). Value range was reduced to (56-175 umol/l/h, median 89) on treatment. Furthermore, two patients had high thyroid stimulating hormone level (36.1, 79. UI/ml), that normalized to (8.5, 6.4 UI/ml) during follow up. Nine pathogenic variants were identified in thirteen patients; two novel variants in two separate families, P111Rfs*7 and K335R, in exons 7 and 12, respectively, and seven known pathogenic variants.Conclusion: Our study highlights the importance of close follow up of NC patients and expands the mutational spectrum of CTNS gene, as two novel mutations are identified in two unrelated families.","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"37 1","pages":"34-41"},"PeriodicalIF":0.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Outcome of marginal donors and recipients in living donor renal transplantation: A single-center study. 活体肾移植中边缘供体和受体的预后：一项单中心研究。

IF 0.5

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2026-01-01 Epub Date: 2026-03-31 DOI: 10.4103/sjkdt.sjkdt_635_20

Anil Sharma, Gaurav Sindwani, Ankit Bhardwaj, Rajan Mathur

{"title":"Outcome of marginal donors and recipients in living donor renal transplantation: A single-center study.","authors":"Anil Sharma, Gaurav Sindwani, Ankit Bhardwaj, Rajan Mathur","doi":"10.4103/sjkdt.sjkdt_635_20","DOIUrl":"10.4103/sjkdt.sjkdt_635_20","url":null,"abstract":"Objective: The primary objective of this study was to identify the donors who were marginal or complex living donors, and the secondary objective was to compare the donor and recipient outcomes in renal transplants involving marginal versus nonmarginal donors.Patients and methods: A retrospective analysis of the records of the voluntary kidney donors and patients with chronic kidney disease who underwent living donor renal transplantation from January 2012 to September 2020 was conducted. A total of 205 adult renal transplants were included in the study. The donors were categorized as marginal or complex living donors based on the presence of one or more of the following criteria: Age 60 years or more, body mass index (BMI) more than 30, glomerular filtration rate (GFR) <80 ml/min/1.73 m2, hypertension, proteinuria, impaired glucose tolerance, renal calculi, renal cysts, and history of tuberculosis.Results: The mean age of the donors was 45.23 years. 35 (17.1%) donors were male and 170 (82.9%) were female. The mean BMI of the donors was 25.29. The mean duration of hospitalization for donor nephrectomy was 4.39 days. A total of 73 (35.60%) donors were found to be marginal. The most common cause for being a marginal donor was a BMI of more than 30. The mean estimated GFR of recipients was lower in the marginal (54.68) group than in the nonmarginal group (60.71), but the difference was not statistically significant (P - 0.083).Conclusions: Marginal kidney donors have similar short-term outcomes as optimal donors, and the graft function at 2 years' follow-up was also comparable in the marginal and nonmarginal groups.","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"37 1","pages":"16-20"},"PeriodicalIF":0.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Stent versus no stent in ureteroneocystostomy in live-related renal transplant: A randomized controlled trial. 活体肾移植输尿管膀胱造口术中的支架与无支架：一项随机对照试验。

IF 0.5

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2026-01-01 Epub Date: 2026-03-31 DOI: 10.4103/sjkdt.sjkdt_228_21

Souvik Dey, Krishna Asuri, Seenu Vuthaluru, Om Prakash Prajapati, Seema Sood, Sandeep Mahajan, Virinder Bansal

{"title":"Stent versus no stent in ureteroneocystostomy in live-related renal transplant: A randomized controlled trial.","authors":"Souvik Dey, Krishna Asuri, Seenu Vuthaluru, Om Prakash Prajapati, Seema Sood, Sandeep Mahajan, Virinder Bansal","doi":"10.4103/sjkdt.sjkdt_228_21","DOIUrl":"10.4103/sjkdt.sjkdt_228_21","url":null,"abstract":"Background: Ureteric stent decreases urological complications postrenal transplantation, but increases the risk of urinary tract infection (UTI). There is no consensus for the placement of a routine ureteric stent following a living donor kidney transplant in adults.Methods: Between January 2018 and October 2019, 100 living donor renal transplant recipients were randomized to a stented or nonstented group. Incidence of UTIs, hematuria, pyuria or asymptomatic bacteriuria and urological complications were compared over a follow-up period of 3 months.Results: A total of 93 patients were considered for final analysis, 48 in stented and 45 in nonstented group. Both groups were comparable in terms of incidence of UTI (11/48 [22.9%] vs. 7/45 [15.6%] P = 0.4), pyuria (25/48 [52.1%] vs. 21/45 [46.7%] P = 0.6), and ureteric anastomotic leak (0/45 vs. 1/45 [1.1%] P = 0.48). Incidence of hematuria was significantly higher in stented group (46/48 [95.8%] vs. 35/45 [77.8%] P = 0.01].Conclusion: Stent placement does not increase UTI rates but increases the incidence of hematuria and necessitates a second procedure for stent removal. However, a larger sample size is required to comment on the ureteric complications.","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"37 1","pages":"8-15"},"PeriodicalIF":0.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Angiotensin-converting enzyme insertion/deletion gene polymorphism in children with nephrotic syndrome: Genotype-phenotype correlations. 肾病综合征患儿血管紧张素转换酶插入/缺失基因多态性：基因型-表型相关性

IF 0.5

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2026-01-01 Epub Date: 2026-03-31 DOI: 10.4103/sjkdt.sjkdt_726_20

Ayman M Hammad, Sohier Yahia, Amany Shouma, Wafaa Laimon, Sahar Hamed, Riham Eid

{"title":"Angiotensin-converting enzyme insertion/deletion gene polymorphism in children with nephrotic syndrome: Genotype-phenotype correlations.","authors":"Ayman M Hammad, Sohier Yahia, Amany Shouma, Wafaa Laimon, Sahar Hamed, Riham Eid","doi":"10.4103/sjkdt.sjkdt_726_20","DOIUrl":"10.4103/sjkdt.sjkdt_726_20","url":null,"abstract":"Purpose: Detecting the genetic etiology of idiopathic nephrotic syndrome (INS) in different ethnic groups, especially in steroid-resistant subjects, is currently essential for individualized management, predicting prognosis, and family counseling. The angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) gene polymorphism has been studied for its possible role in INS in different ethnic groups with conflicting results reported. This study was carried out to explore the possible role of ACE I/D polymorphism in disease susceptibility, steroid response, and outcome in Egyptian children with INS.Subjects and methods: ACE gene I/D polymorphism genotypes and allele frequencies were explored in 86 children with INS versus 140 healthy controls using polymerase chain reaction and examined in different disease phenotypes and pathological variants.Results: Thirty-sex patients were steroid resistant, and 20 had focal segmental glomerulosclerosis (FSGS). The DD genotype and D allele were significantly more frequent in patients compared to controls (P < 0.001 for both) and in steroid-resistant compared to steroid-sensitive subjects (P = 0.004 and 0.003, respectively). Furthermore, patients with FSGS displayed a higher rate of DD genotype (P = 0.04) compared to other pathological variants. DD genotype was also more frequent in patients with hypertension compared to non-hypertensive subjects (P = 0.03) and also in patients who progressed to renal impairment (P = 0.04).Conclusion: The ACE gene DD genotype and D allele can be considered as risk factors for INS susceptibility and significant phenotype modifiers regarding the presentation, pathology, response to steroids, and renal survival in Egyptian children.","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"37 1","pages":"26-33"},"PeriodicalIF":0.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Persistent hyperparathyroidism in the 1st year postrenal transplantation. 肾移植后1年持续性甲状旁腺功能亢进。

IF 0.5

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2026-01-01 Epub Date: 2026-03-31 DOI: 10.4103/sjkdt.sjkdt_26_24

Ahmad Alflaiw, Khalid Alotaibi, Ziad Arabi

{"title":"Persistent hyperparathyroidism in the 1st year postrenal transplantation.","authors":"Ahmad Alflaiw, Khalid Alotaibi, Ziad Arabi","doi":"10.4103/sjkdt.sjkdt_26_24","DOIUrl":"10.4103/sjkdt.sjkdt_26_24","url":null,"abstract":"Background: Hyperparathyroidism (HPT) is a frequent complication in chronic kidney disease and may persist in 20%-50% of cases 1 year after kidney transplantation (KT). HPT contributes to long-term allograft dysfunction and increased risk of fractures. There is scant data on the prevalence of HPT in kidney transplant recipients (KTRs) in Saudi Arabia. The aim of this study is to evaluate the prevalence of this complication and to identify its risk factors in a single center in Saudi Arabia.Subjects and methods: In a retrospective study, data of 204 KTRs who underwent KT between January 2017 and May 2020 were collected. Data included patient's demographic characteristics, history of hypertension, diabetes mellitus (DM), coronary artery disease, duration of dialysis therapy, dialysis modality, and type of vascular access. Serum intact parathyroid hormone (iPTH) was measured prior to transplant, then every 6 months posttransplant for 2 years.Results: Two hundred four KTRs were included in our study. The average age was 42.9 ± 15 years. 111 (54.4%) were males, 161 (78.9%) had received living-donor KT, and 43 (21.1%) had deceased donor KT. 83 (40.7%) were diabetic, and 30 (14.7%) had coronary artery disease. Mean serum iPTH was 67.8 ± 54.7 pmol/L before KT, then 30.6 ± 32.7 pmol/L, 24.7 ± 22.3 pmol/L, 21.9 ± 25.2 pmol/L,1-6 months, 6-12 months, and 12-24 months, respectively, post-KT. Forty-seven (23%) patients were found to have persistent HPT (pHPT) at 1-year post-KT, and they showed a higher incidence of DM, longer duration of dialysis, and greater likelihood of receiving deceased donor KT. In multivariate analysis, pre-KT PTH value was an important risk factor of pHPT post-KT. Whereas age, gender, DM, type of transplant, dialysis duration, and serum creatinine were not.Conclusion: In a single-center experience, (23%) of KTRs had pHPT, and baseline PTH value was an important risk factor in its development.","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"37 1","pages":"42-47"},"PeriodicalIF":0.5,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tubulointerstitial Nephritis - A Histopathological Study of Renal Biopsies. 肾小管间质性肾炎-肾活检的组织病理学研究。

IF 0.3

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2025-01-01 Epub Date: 2025-12-23 DOI: 10.4103/sjkdt.sjkdt_526_20

Anitha Padmanabhan, Amrita Neelakantan, Nitin Gadgil

{"title":"Tubulointerstitial Nephritis - A Histopathological Study of Renal Biopsies.","authors":"Anitha Padmanabhan, Amrita Neelakantan, Nitin Gadgil","doi":"10.4103/sjkdt.sjkdt_526_20","DOIUrl":"https://doi.org/10.4103/sjkdt.sjkdt_526_20","url":null,"abstract":"Tubulointerstitial nephritis (TIN) is a frequent cause of acute kidney injury. TIN has a reported incidence ranging from 1% to 10% of all renal biopsies. Among patients with chronic renal failure, the incidence ranges from about 22% to 33.5%. We studied the histological features of renal biopsies with TIN, evaluated its etiology and correlated TIN with clinical features and investigations. Our study extended over a period of seven years, with 50 cases. The slides were stained with hematoxylin and eosin and special stains like periodic acid-Schiff, Jones methenamine silver and Masson's trichrome. All adequate renal biopsies showing features of acute and chronic TIN were included in our study. Renal biopsies showing features of only primary glomerular pathology and inadequate biopsies were excluded from the study. TIN accounted for 14.84% of all the renal biopsies received in our histopathology section within this period, with 74% cases presenting as acute renal failure. The mean age of our study group was 39 years, with the male-female ratio being 1:1.63. Drug-induced TIN accounted for 42% of the cases, making it the most common cause; 48% of the cases of drug-induced TIN were attributed to the use of nonsteroidal anti-inflammatory drugs. The other causes were immunological, infectious, metabolic, vascular, plasma cell dyscrasias, T-cell mediated and idiopathic. TIN is an important cause of acute renal failure, with drug-induced TIN constituting almost half the cases. These cases can be reversed if caught early, making renal biopsy a valuable modality in diagnosing TIN in cases of acute renal failure.","PeriodicalId":21356,"journal":{"name":"Saudi Journal of Kidney Diseases and Transplantation","volume":"36 1-6","pages":"48-57"},"PeriodicalIF":0.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145811109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anti-PLA2R Antibody-Positive Membranous Nephropathy Superimposed by Pleural Tuberculosis a Year Later: Mere Association or Actual Cause? 抗pla2r抗体阳性膜性肾病一年后合并胸膜结核：单纯关联还是实际原因？

IF 0.3

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2025-01-01 Epub Date: 2025-12-23 DOI: 10.4103/sjkdt.sjkdt_364_21

Priyanka Tolani, Amit S Pasari, Amol Bhawane, Anshul Patodia, Manish R Balwani

引用次数: 0

Anti-Glomerular Basement Membrane Disease and Renal Obstruction. 抗肾小球基底膜病与肾梗阻。

IF 0.3

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2025-01-01 Epub Date: 2025-12-23 DOI: 10.4103/sjkdt.sjkdt_332_21

Cátia R Figueiredo, Rachele Escoli, Flora Sofia

引用次数: 0

Calcific Uremic Panniculitis: A Rare Form of Calciphylaxis in an Endstage Renal Disease Patient. 钙化性尿毒症泛膜炎：终末期肾病患者中一种罕见的钙化反应。

IF 0.3

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2025-01-01 Epub Date: 2025-12-23 DOI: 10.4103/sjkdt.sjkdt_448_21

Beya Fandri, Salma Toumi, Achraf Jaziri, Hanen Chaker, Abderrahmen Masmoudi, Ikram Agrebi, Najla Dammak, Rim Bellaaj, Khawla Kammoun, Soumaya Yaich, Mohamed Ben Hmida

引用次数: 0

Anti-phospholipase A2 Receptor-associated Membranous Nephropathy in an Adolescent Boy with HLA-B27-positive Juvenile Idiopathic Arthritis. 抗磷脂酶A2受体相关膜性肾病在hla - b27阳性少年特发性关节炎的青春期男孩

IF 0.3

Saudi Journal of Kidney Diseases and Transplantation Pub Date : 2025-01-01 Epub Date: 2025-12-23 DOI: 10.4103/sjkdt.sjkdt_410_21

Sudeep Patel, Divyesh Engineer, Himanshu Patel, Vivek B Kute, Subho Banerjee, Kamal Kanodiya

引用次数: 0