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Therapeutic Advances in Urology 2023Cytomegalovirus (CMV), an AIDS defining disease, has a high seroprevalence in the general population, while symptomatic infections occur mostly in immunocompromised...
Cytomegalovirus (CMV), an AIDS defining disease, has a high seroprevalence in the general population, while symptomatic infections occur mostly in immunocompromised individuals. Symptomatic CMV infections commonly include pneumonia, encephalitis, retinitis and colitis, while urinary tract involvement is a rare entity. We present a rare case of massive macroscopic haematuria due to CMV haemorrhagic cystitis in a 29-year-old woman in her second trimester of pregnancy. She was treated with intravenous Ganciclovir after initial resuscitation, and her symptoms promptly resolved. Timely diagnosis and treatment of symptomatic CMV infection is necessary to prevent associated morbidity, and this is especially significant during pregnancy in order to prevent foetal transmission. Both our patient and her baby remained symptom free at the 6-month follow-up post-delivery. Clinicians should have a high index of suspicion to biopsy the bladder urothelium of at-risk patients who present with haemorrhagic cystitis and have non-specific cystoscopy findings as histopathological analysis is the mainstay of diagnosing CMV-cystitis.
PubMed: 36969499
DOI: 10.1177/17562872231159531 -
Journal of Indian Association of... 2023Urethral hemangioma is a benign uncommon vascular tumor. It presents with hematuria and macroscopic urethrorrhagia. Urethrocystoscopy is the main diagnostic modality. We...
Urethral hemangioma is a benign uncommon vascular tumor. It presents with hematuria and macroscopic urethrorrhagia. Urethrocystoscopy is the main diagnostic modality. We share the case of a 14-year-old male child who presented with recurrent massive hematuria and was treated with urethra-cystoscopic holmium laser coagulation.
PubMed: 36910291
DOI: 10.4103/jiaps.jiaps_96_22 -
Journal of Clinical Medicine Feb 2023IgA nephropathy is the most common form of primary glomerulonephritis. While associations of IgA and other glomerular diseases have been described, the association of...
IgA nephropathy is the most common form of primary glomerulonephritis. While associations of IgA and other glomerular diseases have been described, the association of IgA nephropathy with "primary" podocytopathy is rare and has not been reported in pregnancy, due in part to the infrequent use of kidney biopsy during pregnancy, and a frequent overlap with preeclampsia. We report the case of a 33-year-old woman with normal kidney function, referred in the 14th gestational week of her second pregnancy, due to nephrotic proteinuria and macroscopic hematuria. The baby's growth was normal. The patient reported episodes of macrohematuria one year previously. A kidney biopsy performed at 18 gestational weeks confirmed IgA nephropathy, associated with extensive podocyte damage. Treatment with steroids and tacrolimus led to remission of proteinuria and a healthy baby, adequate for gestational age, was delivered at 34 gestational weeks and 6 days (premature rupture of membranes). Six months after delivery, proteinuria was about 500 mg per day, with normal blood pressure and kidney function. This case highlights the importance of timely diagnosis in pregnancy and underlines that good maternal and fetal outcomes can be achieved with appropriate treatment, even in complex or severe cases.
PubMed: 36902674
DOI: 10.3390/jcm12051888 -
Clinical Nephrology. Case Studies 2023Renal vein thrombosis (RVT), defined as the presence of a thrombus in the major renal vein or one of its tributaries, can present acutely or go unnoticed resulting in...
Renal vein thrombosis (RVT), defined as the presence of a thrombus in the major renal vein or one of its tributaries, can present acutely or go unnoticed resulting in acute kidney injury or chronic kidney disease. RVT is associated with multiple etiologies, including nephrotic syndrome, thrombophilia, autoimmune disorders, and malignancy. Patients with systemic lupus erythematosus (SLE), a multiorgan autoimmune disorder, are predisposed to coagulopathy and thus are at a higher risk of venous and arterial thromboembolism. We describe the case of a 41-year-old man with SLE and biopsy-proven membranous glomerulonephritis (WHO class V lupus nephritis) in clinical remission with no evidence of nephrotic range proteinuria who presented with macroscopic hematuria and was diagnosed with acute-on-chronic bilateral RVT. We discuss the different causes of RVT and compare the clinical presentation, diagnostic imaging findings, and management of acute and chronic RVT.
PubMed: 36896139
DOI: 10.5414/CNCS110922 -
The Cochrane Database of Systematic... Feb 2023IgA vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is the most common vasculitis of childhood but may also occur in adults. This small vessel... (Review)
Review
BACKGROUND
IgA vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is the most common vasculitis of childhood but may also occur in adults. This small vessel vasculitis is characterised by palpable purpura, abdominal pain, arthritis or arthralgia and kidney involvement. This is an update of a review first published in 2009 and updated in 2015.
OBJECTIVES
To evaluate the benefits and harms of different agents (used singularly or in combination) compared with placebo, no treatment or any other agent for (1) the prevention of severe kidney disease in people with IgAV with or without kidney involvement at onset, (2) the treatment of established severe kidney disease (macroscopic haematuria, proteinuria, nephritic syndrome, nephrotic syndrome with or without acute kidney failure) in IgAV, and (3) the prevention of recurrent episodes of IgAV-associated kidney disease.
SEARCH METHODS
We searched the Cochrane Kidney and Transplant Register of Studies up to 2 February 2023 through contact with the Information Specialist using search terms relevant to this review. Studies in the Register are identified through searches of CENTRAL, MEDLINE, and EMBASE, conference proceedings, the International Clinical Trials Register (ICTRP) Search Portal and ClinicalTrials.gov.
SELECTION CRITERIA
Randomised controlled trials (RCTs) comparing interventions used to prevent or treat kidney disease in IgAV compared with placebo, no treatment or other agents were included.
DATA COLLECTION AND ANALYSIS
Two authors independently determined study eligibility, assessed the risk of bias and extracted data from each study. Statistical analyses were performed using the random-effects model, and the results were expressed as risk ratio (RR) for dichotomous outcomes and mean difference (MD) for continuous outcomes with 95% confidence intervals (CI). Confidence in the evidence was assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach.
MAIN RESULTS
Twenty studies (1963 enrolled participants) were identified; one three-arm study has been assessed as two studies. Nine studies were at low risk of bias for sequence generation (selection bias), and nine studies were at low risk of bias for allocation concealment (selection bias). Blinding of participants and personnel (performance bias) and outcome assessment (detection bias) was at low risk of bias in four and seven studies, respectively. Nine studies reported complete outcome data (attrition bias), while 10 studies reported expected outcomes, so were at low risk of reporting bias. Five studies were at low risk of other bias. Eleven studies evaluated therapy to prevent persistent kidney disease in IgAV with or without kidney involvement at presentation. There was probably no difference in the risk of persistent kidney disease any time after treatment (5 studies, 746 children: RR 0.74, 95% CI 0.42 to 1.32) or at one, three, six and 12 months in children given prednisone for 14 to 28 days at presentation of IgAV compared with placebo or supportive treatment (moderate certainty evidence). There may be no differences in the risk of any persistent kidney disease with antiplatelet therapy (three studies) or heparin (two studies) in children with or without any kidney disease at study entry, although heparin may reduce the risk of proteinuria by three months compared with placebo or no specific treatment (2 studies, 317 children: RR 0.47, 95% CI 0.31 to 0.73). One study comparing montelukast with placebo found no differences in outcomes as assessed by severity scale scores. Nine studies examined the treatment of severe IgAV-associated kidney disease. In two studies (one involving 56 children and the other involving 54 adults), there may be no differences in efficacy outcomes or adverse effects with cyclophosphamide compared with placebo or supportive treatment. In two studies, there may be no differences in the numbers achieving remission of proteinuria with intravenous (IV) cyclophosphamide compared with mycophenolate mofetil (MMF) (65 children evaluated) or tacrolimus (142 children evaluated). In three small studies comparing cyclosporin with methylprednisolone (15 children), MMF with azathioprine (26 children), or MMF with leflunomide (19 children), it is unclear whether the treatment had any effect on the numbers in remission or the degree of proteinuria between treatment groups because of small numbers of included participants. In one study comparing plasmapheresis, cyclophosphamide and methylprednisolone with cyclophosphamide and methylprednisolone, there may be no difference in the numbers achieving remission. One study compared fosinopril with no specific therapy and reported fosinopril reduced the number of participants with proteinuria. No studies were identified that evaluated the efficacy of therapy on kidney disease in participants with recurrent episodes of IgAV.
AUTHORS' CONCLUSIONS
There are no substantial changes in conclusions from this update compared with the initial review or the previous update despite the addition of five studies. From generally low to moderate certainty evidence, we found that there may be little or no benefit in the use of corticosteroids or antiplatelet agents to prevent persistent kidney disease in children with IgAV in participants with no or minimal kidney involvement at presentation. We did not find any studies which evaluated corticosteroids in children presenting with IgAV and nephritic and/or nephrotic syndrome, although corticosteroids are recommended in such children in guidelines. Though heparin may be effective in reducing proteinuria, this potentially dangerous therapy is not justified to prevent serious kidney disease when few children with IgAV develop severe kidney disease. There may be no benefit of cyclophosphamide compared with no specific treatment or corticosteroids. While there may be no benefit in the efficacy of MMF or tacrolimus compared with IV cyclophosphamide in children or adults with IgAV and severe kidney disease, adverse effects, particularly infections, may be lower in MMF or tacrolimus-treated children. Because of small patient numbers and events leading to imprecision in results, it remains unclear whether cyclosporin, MMF or leflunomide have any role in the treatment of children with IgAV and severe kidney disease. We did not identify any studies which evaluated corticosteroids.
Topics: Adult; Child; Humans; Fosinopril; IgA Vasculitis; Kidney Diseases; Leflunomide; Proteinuria; Tacrolimus; Vasculitis
PubMed: 36853224
DOI: 10.1002/14651858.CD005128.pub4 -
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 -
Cureus Jan 2023As new variants of SARS-CoV-2 continue to emerge worldwide, countries are striving to fully vaccinate their population in a bid to prevent severe disease, subsequent...
As new variants of SARS-CoV-2 continue to emerge worldwide, countries are striving to fully vaccinate their population in a bid to prevent severe disease, subsequent hospitalizations, and the associated strain on their healthcare systems and death. In this context, there is growing evidence of rare, potential side effects associated with COVID-19 vaccines. IgA vasculitis is a systemic, IgA-mediated vasculitis characterized by palpable purpura, arthralgia, abdominal pain, and renal involvement. It is the most common type of vasculitis in childhood, sporadically affecting the adult population. However, there have been multiple reports of IgA vasculitis following vaccination against COVID-19. Herein, we present the case of a 72-year-old patient with palpable purpura that developed two weeks after receiving the Pfizer BioNTech vaccine. Laboratory investigations revealed elevated serum creatinine (2.6 mg/dL), macroalbuminuria (8.6 g/24 h), and macroscopic hematuria. Histopathological examination confirmed necrotizing vasculitis, and a diagnosis of IgA vasculitis was established. Considering the clinical presentation, the laboratory and histopathological findings, and the time interval between the vaccination and the development of symptoms, we strongly believe that IgA vasculitis in this patient arose as a side effect of the Pfizer BioNTech vaccine.
PubMed: 36819313
DOI: 10.7759/cureus.33938 -
Cancer Medicine Feb 2023To get a better understanding of the genetic basis of primary signet ring cell carcinoma (SRCC) of the bladder, which is highly rare and not yet explored. First, by...
To get a better understanding of the genetic basis of primary signet ring cell carcinoma (SRCC) of the bladder, which is highly rare and not yet explored. First, by using immunohistochemistry to find histological pathological characteristics. Second, a massively parallel whole-exome sequencing (WES) was performed on a 58-year-old male patient who had painless macroscopic hematuria and was pathologically diagnosed with primary SRCC of the bladder, followed by comparing with genes of ordinary urothelial cancer (UC) from TCGA. Furthermore, a population-based analysis using the SEER database was performed to investigate the prognosis (SRCC vs. UC). We identified 63 copy number variations (CNVs) with gain counts and 181 CNVs with loss counts. Totally 4515 mutations were discovered in C > T with a success rate of greater than 89%. The most frequently mutated pathway was RTK-RAS which has 85 genes involved in carcinogenic signaling. Final screening on predisposing genes is performed after filtering based on ACMG. Moreover, several driver genes, including NBN, KCTD18, SPATA13, ANKRD36, OR2L5, MALRD1, and LSMEM1, were detected. Sanger sequencing of germline DNA revealed the presence of a mutant base A/G of OR2L5 in the sequence, which was discovered for the first time in primary SRCC of the bladder. Furthermore, the immunohistochemical profile showed that primary SRCC of the bladder were positive for CK7, CK20, GATA-3, and expression of CK(AE1/AE2), EMA, and Ki67. In the SEER-based study, the patients with primary SRCC of the bladder got a worse prognosis compared to those with UC with median months overall survival (OS) 14 vs. 41, respectively, P = 0001, even after adjusting the variables in the Cox regression model, the SRCC of the bladder showed worse survival HR = 1.119, 95% CI = (1.081-1.328), P = 0.0001. These results imply that suppression of potential driver mutations may be a viable adjuvant treatment approach for primary SRCC in the bladder in place of standard chemotherapy, a possibility that warrants further clinical investigation.
Topics: Humans; Male; Middle Aged; Carcinoma, Signet Ring Cell; Carcinoma, Transitional Cell; DNA Copy Number Variations; Molecular Biology; Mutation; Urinary Bladder; Urinary Bladder Neoplasms
PubMed: 36779496
DOI: 10.1002/cam4.5121 -
Nihon Hinyokika Gakkai Zasshi. the... 2022A 68-year-old female presented with macroscopic hematuria. Cystoscopy revealed a wide-based submucosal mass. Computed tomography revealed a 3.5 × 2.5-cm solitary mass...
A 68-year-old female presented with macroscopic hematuria. Cystoscopy revealed a wide-based submucosal mass. Computed tomography revealed a 3.5 × 2.5-cm solitary mass situated from the trigone to the left lateral bladder wall and the left hydroureter and hydronephrosis. T2-weighted magnetic resonance imaging (MRI) revealed low intensity, and diffusion-weighed MRI showed increased diffusion without invasion. The bladder tumor was immediately resected transurethrally. Histological diagnosis of the tissue obtained by transurethral resection was extranodal marginal zone B cell lymphoma of MALT. Positron emission tomography-CT showed no lesions other than the bladder tumor. The patient was diagnosed with stage-IE lymphoma of the bladder (Ann Arbor classification). Radiotherapy was performed at the bladder and pelvis (30 Gy) with six courses of rituximab (375 mg/m). No local or distant recurrence after a 48-month follow-up was noted.
Topics: Female; Humans; Aged; Urinary Bladder; Lymphoma, B-Cell, Marginal Zone; Urinary Bladder Neoplasms; Pelvis; Lymphoid Tissue; Mucous Membrane
PubMed: 36682809
DOI: 10.5980/jpnjurol.113.28 -
Clinical Cancer Research : An Official... Jan 2023Viral infections are a major cause of morbidity and mortality following allogeneic hematopoietic cell transplantation (allo-HCT). In the absence of safe and effective...
PURPOSE
Viral infections are a major cause of morbidity and mortality following allogeneic hematopoietic cell transplantation (allo-HCT). In the absence of safe and effective antiviral treatments, virus-specific T cells have emerged as a promising therapeutic option. Posoleucel is a multivirus-specific T-cell therapy for off-the-shelf use against six viral infections that commonly occur in allo-HCT recipients: adenovirus, BK virus (BKV), cytomegalovirus, Epstein-Barr virus, human herpes virus-6, and JC virus.
PATIENTS AND METHODS
We conducted an open-label, phase II trial to determine the feasibility and safety of posoleucel in allo-HCT recipients infected with one or more of these viruses. Infections were either unresponsive to or patients were unable to tolerate standard antiviral therapies. Fifty-eight adult and pediatric patients were enrolled and treated.
RESULTS
Posoleucel was well tolerated, with no cytokine release syndrome or other infusion-related toxicities; two patients (3.4%) developed Grade 2 and one patient (1.7%) Grade 3 GvHD during the trial. The overall response rate 6 weeks after the first posoleucel infusion was 95%, with a median plasma viral load reduction of 97%. Of the 12 patients who had two or more target viral infections identified at study entry, 10 (83%) had a clinical response for all evaluable viruses. Of the 23 patients treated for refractory BKV-associated hemorrhagic cystitis, 74% had resolution of symptoms and macroscopic hematuria by 6 weeks post-infusion.
CONCLUSIONS
In this open-label trial, treatment of refractory viral infections/disease in allo-HCT recipients with posoleucel was feasible, safe, and effective.
Topics: Adult; Child; Humans; Antiviral Agents; Cell- and Tissue-Based Therapy; Epstein-Barr Virus Infections; Hematopoietic Stem Cell Transplantation; Herpesvirus 4, Human; Virus Diseases
PubMed: 36628536
DOI: 10.1158/1078-0432.CCR-22-2415