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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney Int
August 2023
Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France. Electronic address:
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified.
View Article and Find Full Text PDFCystinuria.
Acta Paediatr Suppl
July 2006
Department of Nephrology and Urology, Division of Nephrology and Dialysis, Ospedale Pediatrico Bambino Gesù, Scientific Institute (IRCCS), Romem, Italy.
Unlabelled: Cystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of cystine and dibasic amino acids in obligate heterozygotes, may no longer be considered valid. A new classification is therefore needed: type A due to two mutations of SLC3A1 on chromosome 2, and type B due to two mutations of SLC7A9 on chromosome 19.
View Article and Find Full Text PDFEpidemiology, clinical presentation, and pathophysiology of atypical and recurrent hemolytic uremic syndrome.
Semin Thromb Hemost
March 2006
Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
Hemolytic uremic syndrome (HUS) includes a heterogeneous group of hemolytic disorders. Among the identified causes of HUS are infections, particularly infections with Shiga toxin-producing ESCHERICHIA COLI (STEC), complement disorders, and disorders interfering with the degradation of von Willebrand factor (VWF). Other causes for atypical HUS include the cobalamin metabolism; pregnancy/hemolysis, elevated liver enzymes, and low platelets syndrome (HELLP); drugs; and other disorders (e.
View Article and Find Full Text PDFLong-term renal function in heart transplant children on cyclosporine treatment.
Pediatr Nephrol
April 2006
Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Piazza S. Onofrio 4, 00165 Rome, Italy.
Renal function deterioration is a reason of concern in heart transplantation. Our aim was to evaluate long-term renal function in heart transplant children on cyclosporine (CsA) treatment and to investigate the effect of several variables possibly involved in renal function deterioration. Creatinine clearances were retrospectively reviewed in 50 children (median follow 99.
View Article and Find Full Text PDFShiga toxins present in the gut and in the polymorphonuclear leukocytes circulating in the blood of children with hemolytic-uremic syndrome.
J Clin Microbiol
February 2006
Dipartimento di Patologia Sperimentale, Via San Giacomo 14, 40126 Bologna, Italy.
Hemolytic-uremic syndrome, the main cause of acute renal failure in early childhood, is caused primarily by intestinal infections from some Escherichia coli strains that produce Shiga toxins. The toxins released in the gut are targeted to renal endothelium after binding to polymorphonuclear leukocytes. The presence of Shiga toxins in the feces and the circulating neutrophils of 20 children with hemolytic uremic syndrome was evaluated by the Vero cell cytotoxicity assay and flow cytometric analysis, respectively.
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