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Ulusal Travma Ve Acil Cerrahi Dergisi =... May 2023Wunderlich syndrome (WS) is defined as a rare spontaneous renal hemorrhage. It mostly occurs with concomitant diseases without trauma. It usually presents with the Lenk...
Wunderlich syndrome (WS) is defined as a rare spontaneous renal hemorrhage. It mostly occurs with concomitant diseases without trauma. It usually presents with the Lenk triad and is diagnosed in emergency departments with the effective use of advanced imaging modalities such as ultrasonography, computerized tomography, or magnetic resonance imaging scanning. In the management of WS, conservative treatment, interventional radiology, or surgical procedures are decided according to the patient's condition and treated appropriately. Conservative follow-up and treatment should be considered in patients whose diagnosis is stable. If diagnosed late, the progression can be life-threatening. As an interesting case of WS, a 19-year-old patient was presented with hydronephrosis due to ure-teropelvic junction obstruction. Spontaneous renal hemorrhage without a history of trauma is presented. The patient, who presented to the emergency department with the sudden onset of flank pain, vomiting, and macroscopic hematuria was imaged by computed tomography. The patient could be followed and treated conservatively for the first 3 days, and on the 4th day, his general condition deteriorated, and he underwent selective angioembolization and then laparoscopic nephrectomy. WS is a serious, life-threatening emer-gency, even in young patients with benign conditions. Early diagnosis is mandatory. Delays in diagnosis and non-energetic approaches can lead to life-threatening situations. In hemodynamically unstable non-malignant cases, the decision for immediate treatment, such as angioembolization and surgery, should be taken without hesitation.
Topics: Male; Humans; Young Adult; Adult; Kidney; Ureteral Obstruction; Hydronephrosis; Hemorrhage; Tomography, X-Ray Computed
PubMed: 37145043
DOI: 10.14744/tjtes.2022.54502 -
Frontiers in Medicine 2023Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the , and genes that are affected in Alport...
INTRODUCTION
Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the , and genes that are affected in Alport syndrome (AS), a common cause of genetic kidney disease, characterized by hematuria, proteinuria, end-stage kidney failure, hearing loss, and eye anomalies.
MATERIALS AND METHODS
The study included 57 Romani from different families with clinical features that suggested AS who underwent next-generation sequencing (NGS) of the genes, and 83 family members.
RESULTS
In total, 27 Romani (19%) had autosomal recessive AS caused by a homozygous pathogenic c.1598G>A, p.Gly533Asp variant in ( = 20) or a homozygous c.415G>C, p.Gly139Arg variant in ( = 7). For p.Gly533Asp, 12 (80%) had macroscopic hematuria, 12 (63%) developed end-stage kidney failure at a median age of 22 years, and 13 (67%) had hearing loss. For p.Gly139Arg, none had macroscopic hematuria ( = 0.023), three (50%) had end-stage kidney failure by a median age of 42 years ( = 0.653), and five (83%) had hearing loss ( = 0.367). The p.Gly533Asp variant was associated with a more severe phenotype than p.Gly139Arg, with an earlier age at end-stage kidney failure and more macroscopic hematuria. Microscopic hematuria was very common in heterozygotes with both p.Gly533Asp (91%) and p.Gly139Arg (92%).
CONCLUSION
These two founder variants contribute to the high prevalence of kidney failure in Czech Romani. The estimated population frequency of autosomal recessive AS from these variants and consanguinity by descent is at least 1:11,000 in Czech Romani. This corresponds to a population frequency of autosomal dominant AS from these two variants alone of 1%. Romani with persistent hematuria should be offered genetic testing.
PubMed: 36844206
DOI: 10.3389/fmed.2023.1096869 -
Clinical Kidney Journal Feb 2021Anticoagulant-related nephropathy (ARN) is a clinical syndrome of acute kidney injury in patients taking vitamin K antagonists or direct oral anticoagulants. It is...
Anticoagulant-related nephropathy (ARN) is a clinical syndrome of acute kidney injury in patients taking vitamin K antagonists or direct oral anticoagulants. It is associated with increased mortality and there is no specific treatment. We report the case of a 78-year-old man on dabigatran who developed macroscopic haematuria and acute kidney injury 2 weeks after mitral valve repair, reaching a peak creatinine of 415 µmol/L from a normal baseline, which was successfully treated with one course of idarucizumab. This case illustrates the efficacy of an anticoagulant reversal agent for the treatment of ARN.
PubMed: 35261760
DOI: 10.1093/ckj/sfaa030 -
Cancers Nov 2021Soluble PD-L1 (sPD-L1) levels have been identified as a potential biomarker for various cancers, but its diagnostic and prognostic value in urinary bladder cancer (BC)...
Soluble PD-L1 (sPD-L1) levels have been identified as a potential biomarker for various cancers, but its diagnostic and prognostic value in urinary bladder cancer (BC) remains to be fully elucidated. In this study, we investigated sPD-L1 levels in serum and urine samples from 132 patients with BC and compared them to 51 patients with hematuria (controls). The levels of sPD-L1 in serum and urine were determined using ELISA. Soluble PD-L1 could be detected in 99.5% of the serum samples and 34.4% of the urine samples. Patients diagnosed with BC had significantly higher urinary levels of sPD-L1, compared to controls, however no difference were found in serum sPD-L1 levels ( = 0.038 and = 0.61, respectively). Significantly higher serum sPD-L1 levels were found in patients with muscle invasive disease and metastatic disease, compared to patients with non-muscle invasive BC and non-metastatic disease ( < 0.05). There was also a trend for higher urine sPD-L1 levels in patients with metastatic disease, compared to patients with non-metastatic disease ( = 0.05). The results from this study suggest that sPD-L1 in serum, but not in urine, could be a potential prognostic biomarker for patients with BC.
PubMed: 34830993
DOI: 10.3390/cancers13225841 -
Annals of Medicine and Surgery (2012) May 2022Prostatic leiomyosarcoma is a rare aggressive tumor. The presentation came with non-specific signs and symptoms likewise other forms of prostatic pathology like benign...
INTRODUCTION AND IMPORTANCE
Prostatic leiomyosarcoma is a rare aggressive tumor. The presentation came with non-specific signs and symptoms likewise other forms of prostatic pathology like benign prostatic hyperplasia.
CASE PRESENTATION
A 64 years old man presented to the emergency with a recurrent macroscopic hematuria, he was a heavy smoker and has reported lower urinary tract symptoms. On the physical examination, the patient was hemodynamically stable and afebrile. However, the digital rectal exam revealed an enlarged homogeneous prostate without any palpable nodule. Pelvic transabdominal ultrasound showed an enlarged prostate and a thickening of the bladder's left lateral wall. The CT-scan showed a large and heterogeneous mass arising from the left bladder wall measuring 100 mm, which extends through almost the entire bladder wall. Furthermore, the patient performed cystoscopy, performed by a Urology Professor, showing a normal urethra, a normal prostate gland, and a large solid bladder mass with multiple clots. Subsequently, multiple masses' biopsies were performed. The diagnosis of a primary protatic leomyosarcoma was based on the clinical findings and on the histopathological exam. The patient was prepared for a radical cystoprostatectomy, which would be performed by a Urology Professor, but he died of cardiac arrest before undergoing surgery.
CLINICAL DISCUSSION
There are no specific clinical presentations of prostatic sarcoma, patients normally complain of urinary frequency and urinary urgency. Due to the lack of typical clinical symptoms, the tumor is easily overlooked or misdiagnosed as benign prostatic hyperplasia. In this case, the first symptom was a recurrent hematuria in a 64 years-old heavy smoker, which is a relatively rare obvious symptom according to literature. As showed in this case, recurrent hematuria may delay the diagnosis. Concerning the management of prostatic leiomyosarcoma, there are no standard recommendations. Multimodality combination treatments including surgery, pre or postoperative radiotherapy and neo or adjuvant chemotherapy have been used in the management of leiomyosarcoma of prostate.
CONCLUSION
Prostatic leiomyosarcoma poses a unique diagnostic challenge, as clinical presentation alone may not always be suggestive, an unsual clinical presentation as recurrent hematuria must suggest a prostatic leimyosarcoma when associated with urinary frequency and urinary urgency. Histopathological examination and the FNCLCC grading system are essential for the definitive diagnosis. Multimodality treatment regimens including surgery, radiotherapy and chemotherapy are recommended.
PubMed: 35637987
DOI: 10.1016/j.amsu.2022.103634 -
Kidney & Blood Pressure Research 2017In this retrospective study we aimed to compare the effect of tranexamic acid (TXA) vs etamsylate, two hemostatic agents, on hematuria duration in autosomal dominant...
BACKGROUND/AIMS
In this retrospective study we aimed to compare the effect of tranexamic acid (TXA) vs etamsylate, two hemostatic agents, on hematuria duration in autosomal dominant polycystic kidney disease (ADPKD) patients with persistent gross hematuria.
METHODS
This is a retrospective study of 40 patients with ADPKD and macroscopic hematuria. 20 patients receiving TXA and snake venom blood clotting enzyme injection were compared with 20 matched patients receiving etamsylate and snake venom blood clotting enzyme injection. The primary outcome was hematuria duration and the secondary outcomes were blood transfusion requirements and adverse events.
RESULTS
The hematuria duration was shorter in the TXA group compared with the etamsylate group (4[3-5] d vs 7[6-10] d, P<0.001). The volume of blood transfusion tended to be less in the TXA group than in the etamsylate group (300±115 ml vs 486±195 ml, P=0.12), and the number of patients needing a blood transfusion also tended to be lower [20% (4/20) vs 35% (7/20), P=0.29]. TXA and etamsylate were equally well tolerated and no serious adverse events were observed in both groups.
CONCLUSIONS
Our study indicates that TXA treatment was more effective than etamsylate in stopping bleeding in ADPKD patients with persistent gross hematuria.
Topics: Adult; Ethamsylate; Female; Hematuria; Hemostatics; Humans; Male; Middle Aged; Polycystic Kidney, Autosomal Dominant; Retrospective Studies; Tranexamic Acid; Treatment Outcome
PubMed: 28395294
DOI: 10.1159/000474961 -
Indian Journal of Nephrology 2023Immunoglobulin A (IgA) nephropathy is the most common glomerular disease worldwide. It usually presents as a nephritic syndrome with macroscopic hematuria, oliguria, and...
Immunoglobulin A (IgA) nephropathy is the most common glomerular disease worldwide. It usually presents as a nephritic syndrome with macroscopic hematuria, oliguria, and proteinuria with or without azotemia. Rapidly progressive glomerulonephritis with crescents is being described in about 30% of cases and is mostly associated with nephrotic-range proteinuria, accelerated hypertension, and accelerated decline toward end-stage renal disease. Medullary angiitis is a rare finding in renal biopsy and is usually associated with pauci-immune glomerulonephritis. We describe a rare association of medullary angiitis in IgA nephropathy, probably the first reported case in the country.
PubMed: 37448894
DOI: 10.4103/ijn.ijn_358_21 -
Arab Journal of Urology 2023Urothelial bladder carcinoma (UBC) is usually detected during work-up for hematuria. Cystoscopy and/or contrast-enhanced imaging are the gold standard tools for UBC...
BACKGROUND
Urothelial bladder carcinoma (UBC) is usually detected during work-up for hematuria. Cystoscopy and/or contrast-enhanced imaging are the gold standard tools for UBC diagnosis, despite limited by being invasive, expensive and low yield in small flat tumors.
OBJECTIVES
To assess the diagnostic performance of urine-based DNA methylation of six genes (GATA4, P16, P14, APC, CDH1 and CD99) for UBC detection in patients with hematuria.
PATIENTS AND METHODS
Voided urine was collected from consecutive patients presented with hematuria for urine cytology and DNA methylation assay of the assigned genes using methylation-specific Polymerase Chain Reaction (PCR). Further assessment by office cystoscopy and imaging with subsequent inpatient cystoscopic biopsy for positive findings was done. The diagnostic characteristics of DNA methylation and urine cytology were assessed based on its capability to predict UBC.
RESULTS
We included 246 patients in the study with identified macroscopic hematuria in 204 (82.9%) patients. Positive cytology was found in 78 (31.7%) patients. DNA methylation of GATA4, P16, P14, APC, CDH1 and CD99 genes was identified in 127 (51.6%), 52 (21.1%), 117 (47.6%), 106 (43.1%), 90 (36.6%) and 71 (28.9%) patients, respectively. The sensitivity of the assigned genes for UBC detection ranges from 35% (95%CI: 31-39) to 83% (95%CI: 79-87). Optimal specificity (SP) (100%) was noted for P16, APC and CDH1 genes. While for the other genes (GATA4, P14 and CD99), the SP was 95% (95%CI: 92-98), 96% (95%CI: 92-99) and 97% (95%CI: 93-99), respectively. On multivariate logistic regression analysis, all genes exclusively demonstrated independent prediction of UBC. On receiver operator characteristic (ROC) analysis, all tested genes methylation showed superior area under the curve (AUC) when compared to urine cytology.
CONCLUSIONS
We have developed a novel urine-based DNA methylation assay for detection of UBC in patients with hematuria with superior diagnostic performance and independent predictive capacity over urine cytology.
PubMed: 38178946
DOI: 10.1080/2090598X.2023.2208492 -
La Tunisie Medicale Mar 2023Focal segmental glomerulosclerosis is a histopathological entity.
INTRODUCTION
Focal segmental glomerulosclerosis is a histopathological entity.
AIM
To analyze the epidemiological, clinical and histological profile of primary focal segmental glomerulosclerosis in children, as well as their prognostic factors.
METHODS
This was a retrospective cross-sectional study over a period of 20 years (2001-2020), conducted in the Department of Pediatrics at Charles Nicolle Hospital in Tunis, which included children followed for primary focal segmental glomerulosclerosis.
RESULTS
There were 35 children, 19 boys and 16 girls. The median age was 4.5 years. Nephrotic syndrome was seen in 88% of patients. Macroscopic hematuria was found in 4 cases, hypertension in 8 cases and renal failure in 7 cases at presentation. The most common variant was the not otherwise specified variant (77.1%). Steroid-sensitive nephrotic syndrome was observed in 71% of cases, and steroid-resistance in 29% of cases. Treatment with cyclosporine was indicated in 23 patients with complete remission rate of 56.5%. 42,8% children had progressed to chronic kidney disease, including an end-stage renal disease in 11.5% of cases. Only the presence of a family history of kidney disease was found as a predictive factor of progression to chronic kidney disease and end-stage renal disease. Renal survival rates were estimated at 100% at 3 years, 85% at 5 years and 73% at 10 years.
CONCLUSION
Identification of patients at high risk for chronic kidney disease progression, such as those with a family history of kidney disease or those who have failed to respond to corticosteroids, would allow therapeutic adjustments.
Topics: Male; Female; Humans; Child; Child, Preschool; Glomerulosclerosis, Focal Segmental; Cross-Sectional Studies; Retrospective Studies; Prognosis; Kidney Failure, Chronic; Renal Insufficiency, Chronic; Nephrotic Syndrome
PubMed: 38263915
DOI: No ID Found -
Kidney International Reports May 2023Immunoglobulin A1 (IgA1) with galactose-deficient -glycans (Gd-IgA1) play a key role in the pathogenesis of IgA nephropathy (IgAN). Mucosal-tissue infections increase...
INTRODUCTION
Immunoglobulin A1 (IgA1) with galactose-deficient -glycans (Gd-IgA1) play a key role in the pathogenesis of IgA nephropathy (IgAN). Mucosal-tissue infections increase IL-6 production and, in patients with IgAN, are often associated with macroscopic hematuria. IgA1-secreting cell lines derived from the circulation of patients with IgAN, compared to those of healthy controls (HCs), produce more IgA1 that has glycans with terminal or sialylated -acetylgalactosamine (GalNAc). GalNAc residues are added to IgA1 hinge region by some of the 20 GalNAc transferases, the -glycosylation-initiating enzymes. Expression of , encoding GalNAc-T2, the main enzyme initiating IgA1 -glycosylation, is similar in cells derived from patients with IgAN and HCs. In this report, we extend our observations of overexpression in IgA1-producing cell lines from patients with IgAN.
METHODS
expression was analyzed in peripheral blood mononuclear cells (PBMCs) from patients with IgAN and from HCs. Moreover, the effect of overexpression or knock-down on Gd-IgA1 production in Dakiki cells was assessed.
RESULTS
was overexpressed in PBMCs from patients with IgAN. IL-6 increased expression in PBMCs from patients with IgAN and HCs. We used IgA1-producing cell line Dakiki, a previously reported model of Gd-IgA1-producing cells, and showed that overexpression of GalNAc-T14 enhanced galactose deficiency of IgA1, whereas siRNA-mediated GalNAc-T14 knock-down reduced it. GalNAc-T14 was localized in trans-Golgi network, as expected.
CONCLUSIONS
Overexpression of due to inflammatory signals during mucosal infections may contribute to overproduction of Gd-IgA1 in patients with IgAN.
PubMed: 37180502
DOI: 10.1016/j.ekir.2023.02.1072