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Hospital de Órbigo, Spain

Herrero-Calvo J.A.,Servicio de Nefrologia | Gonzalez-Parra E.,Servicio de Nefrologia | Perez-Garcia R.,Hospital Universitario Infanta Leonor | Tornero-Molina F.,Servicio de Nefrologia | And 41 more authors.

Objectives: The study's objectives were to determine which anticoagulation methods are commonly used in patients who are undergoing haemodialysis (HD) in Spain, on what criteria do they depend, and the consequences arising from their use. Material and Method: Ours was a cross-sectional study based on two types of surveys: a "HD Centre Survey" and a "Patient Survey". The first survey was answered by 87 adult HD units serving a total of 6093 patients, as well as 2 paediatric units. Among these units, 48.3% were part of the public health system and the remaining 51.7% units were part of the private health system. The patient survey analysed 758 patients who were chosen at random from among the aforementioned 78 HD units. Results: A) HD Centre Survey: The majority of adult HD units (n=61, 70.2%) used both types of heparin, 19 of them (21.8%) only used LMWH and 7 of them (8%) only used UFH. The most frequently applied criteria for the use of LMWH were medical indications (83.3% of HD units) and ease of administration (29.5%). The most frequently used methods for adjusting the dosage were clotting of the circuit (88.2% of units), bleeding of the vascular access after disconnection (75.3%), and patient weight (57.6%). B) Patient Survey: The distribution of the types of heparin used was: UFH: 44.1%, LMWH: 51.5%, and dialysis without heparin in 4.4% of patients. LMWH was more frequently used in public medical centres (64.2% of patients) than in private medical centres (46.1%) (P<.001). LMWH was more frequently used in on-line haemodiafiltration (HF) than in high-flux HD (P<.001). Antiplatelet agents were given to 45.5% of patients, oral anticoagulants to 18.4% of patients, and both to 5% of patients. Additionally, 4.4% of patients had suffered bleeding complications during the previous week, and 1.9% of patients suffered thrombotic complications. Bleeding complications were more frequent in patients with oral anticoagulants (P=.001), although there was no association between the type of heparin and the occurrence of bleeding or thrombotic complications. Conclusions: We are able to conclude that there is a great amount of disparity in the criteria used for the medical prescription of anticoagulation in HD. It is advisable that each HD unit revise their own results as well as those from other centres, and possibly to create an Anticoagulation Guide in Haemodialysis. © 2012 Revista Nefrología. Source

Guaragna M.S.,University of Campinas | Lutaif A.C.G.B.,University of Campinas | Bittencourt V.B.,Nefrologia Pediatrica | Piveta C.S.C.,University of Campinas | And 6 more authors.
Arquivos Brasileiros de Endocrinologia e Metabologia

Frasier syndrome (FS) is characterized by gonadal dysgenesis and nephropathy. It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. Therefore, elective bilateral gonadectomy is indicated. Nephropathy in FS consists in nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal and segmental glomerular sclerosis (FSGS). Patients are generally unresponsive to steroid and immunosuppressive therapies, and will develop end-stage renal failure (ESRF) during the second or third decade of life. We report here four cases of FS diagnosis after identification of WT1 mutations. Case 1 was part of a large cohort of patients diagnosed with steroid-resistant nephrotic syndrome, in whom the screening for mutations within WT1 8-9 hotspot fragment identified the IVS9+5G>A mutation. Beside FS, this patient showed unusual characteristics, such as urinary malformation (horseshoe kidney), and bilateral dysgerminoma. Cases 2 and 3, also bearing the IVS9+5G>A mutation, and case 4, with IVS9+1G>A mutation, were studied due to FSGS and/or delayed puberty; additionally, patients 2 and 4 developed bilateral gonadal tumors. Since the great majority of FS patients have normal female external genitalia, sex reversal is not suspected before they present delayed puberty and/or primary amenorrhea. Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis. © ABEM todos os direitos reservados. Source

Garcia-Nieto V.,Nefrologia Pediatrica | Loris C.,Nefrologia Pediatrica | Ariceta G.,Nefrologia Pediatrica | Nadal I.,Nefrologia Pediatrica | And 11 more authors.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion reabsortion in the kidney. Patients with mutations in the CLDN19 gene also present severe visual impairment. Our goals in this study were to examine the clinical characteristics of a large cohort of Spanish patients with this disorder and to identify the disease causing mutations. We included a total of 31 patients belonging to 27 unrelated families and studied renal and ocular manifestations. We then analyzed by direct DNA sequencing the coding regions of CLDN16 and CLDN19 genes in these patients. Bioinformatic tools were used to predict the consequences of mutations. Clinical evaluation showed ocular defects in 87% of patients, including mainly myopia, nystagmus and macular colobomata. Twenty two percent of patients underwent renal transplantation and impaired renal function was observed in another 61% of patients. Results of the genetic analysis revealed CLDN19 mutations in all patients confirming the clinical diagnosis. The majority of patients exhibited the previously described p.G20D mutation. Haplotype analysis using three microsatellite markers showed a founder effect for this recurrent mutation in our cohort. We also identified four new pathogenic mutations in CLDN19, p.G122R, p.I41T, p.G75C and p.G75S. A strategy based on microsequencing was designed to facilitate the genetic diagnosis of this disease. Our data indicate that patients with CLDN19 mutations have a high risk of progression to chronic renal disease. © 2013 Claverie-Martin et al. Source

Morey M.,Fundacion Publica Galega de Medicina Xenomica | Castro-Feijoo L.,University of Santiago de Compostela | Barreiro J.,University of Santiago de Compostela | Cabanas P.,University of Santiago de Compostela | And 25 more authors.
BMC Medical Genetics

Background: Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3(1,25(OH)2D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.Methods: Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the PHEX gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test.Results: Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)2D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).Conclusions: PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH)2D levels suggesting that the PHEX type of mutation might predict the XLHR phenotype severity. © 2011 Morey et al; licensee BioMed Central Ltd. Source

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