Restrictive measures imposed to prevent COVID-19 contagion have caused an increase in waiting times for other health procedures. During the pandemic, utilization of telemedicine has increased to ensure patient care safely. The aim of this study was to evaluate the perspective of infertile patients who underwent virtual consultations for infertility.
View Article and Find Full Text PDFThe NPHS2 gene encodes podocin, a membrane protein that acts as the structural scaffold in podocyte foot processes. NPHS2 mutations are associated with steroid-resistant nephrotic syndrome (SRNS), with the pathologic variant being focal and segmental glomerulosclerosis (FSGS), an emerging cause of end-stage renal disease in children. We describe a novel NPHS2 sequence variant in a girl with SRNS.
View Article and Find Full Text PDFBackground: Mutations in human SIX1 gene cause branchiootorenal or branchiootic syndrome. Six1 deficient mice exhibit uni- or bilateral renal hypoplasia or kidney agenesis. Furthermore a lack of Six1 gene in the ureter leads to hydroureter and hydronephrosis.
View Article and Find Full Text PDFEven if kidney graft survival has improved during the last decades, sensitized pediatric patients are an emerging problem. We describe a 17-yr-old male who lost his first graft due to chronic rejection becoming hyperimmunized (CDC PRA 99.61%).
View Article and Find Full Text PDFPurpose: Upper pole histology has been poorly investigated in duplex system ectopic ureters and ureteroceles. We aimed to determine the differences in histology between the conditions, and to identify clinical markers of renal damage.
Methods: Twenty-two patients undergoing partial nephrectomy between 2001 and 2007 for poorly functioning upper poles associated with ectopic ureters (n = 11) or ureteroceles (n = 11) were considered.
Background: In pediatric kidney transplant recipients, viral infections occur soon after transplant and may be transmitted from the graft.
Methods: This study of 75 pediatric kidney transplants investigated whether genome sequences of parvovirus B19, Epstein-Barr virus (EBV), human cytomegalovirus (HCMV), and BK polyomavirus (BKV) could be detected in kidney graft samples (graft biopsy samples and preservation and washing solutions) collected before implantation and whether their presence was a risk factor for infections in the recipient.
Results: B19 DNA was detected in approximately 30% of graft biopsy samples, preservation solutions, and washing solutions; EBV DNA was detected in approximately 20% of preservation and washing solutions but rarely in biopsy samples; and HCMV DNA and BKV DNA were rarely detected in graft biopsy samples.
Loss of menin, a tumor suppressor coded by the MEN1 gene, is a key factor in the pathogenesis of multiple endocrine neoplasia type I and in a percentage of sporadic endocrine tumors of the pancreas and parathyroid glands. This study investigated expression of the menin protein in the normal exocrine pancreas and in pancreatic ductal adenocarcinoma (PDAC), the most common pancreatic tumor. Immunofluorescence (IF) analyses showed that menin is expressed at high levels in normal acinar and duct cells.
View Article and Find Full Text PDFBackground: The relevance of viral infections in the development of allograft lesions is still unclear, although some viruses have been implicated. The present study investigated systemic and intrarenal viral infections in kidney transplant recipients and their association with the risk of acute rejection and chronic allograft injuries that are predictive of long-term dysfunction.
Methods: The presence of DNA sequences of human herpesviruses, polyomaviruses, and parvovirus B19 was analyzed in renal allograft biopsy specimens obtained at baseline, after acute renal dysfunction, and during follow-up evaluation in 69 transplant recipients who were children or young adults.
Mutations of the UMOD gene, encoding uromodulin, have been associated with medullary cystic kidney disease 2, familial juvenile hyperuricemic nephropathy, and glomerulocystic kidney disease. We report on a 13-year-old boy presenting with chronic reduced kidney function, hyperuricemia, and impairment in urine-concentrating ability. His father was affected by an undefined nephropathy that required transplantation.
View Article and Find Full Text PDFThe origin and fate of renal interstitial myofibroblasts (MFs), the effector cells of renal fibrosis, are still debated. Experimental evidence suggests that renal MFs derive from tubular epithelial cells throughout the epithelial-mesenchymal transition (EMT) process. Primary human tubular epithelial cells (HUTECs) were cultured for 4 and 6 days on plastic or type I collagen-coated plates with 1, 5, 10 and 50 ng/ml of transforming growth factor beta1 (TGFbeta1).
View Article and Find Full Text PDFThis study was undertaken to determine the role of aquaporin 2 (AQP2) in the impaired urinary concentrating capacity observed in patients who underwent pyeloplasty because of congenital unilateral hydronephrosis as a result of pyeloureteral junction disease. Twelve children (mean age, 8 +/- 2 mo) were examined in the study. From day 1 to day 5 after surgery, the urine was collected separately from pyelostomy draining only from the postobstructed kidney and from the bladder catheter draining mostly from the contralateral kidney used as internal control.
View Article and Find Full Text PDFPAX2, a homeotic gene of 'paired box family', is a nuclear transcription factor expressed in mesenchymal/epithelial conversion during the early stages of nephrogenesis; however, its repression is necessary for terminal differentiation of mature tubular cells. Transgenic overexpression in animal model causes epithelial hyperproliferation and microcyst formation. In humans, PAX2 expression has been observed in cystic and dysplasic tubular epithelia in kidney malformation and in kidney disease.
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