Víctor Manuel García-Nieto

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It is well known that some patients with renal lithiasis due to idiopathic hypercalciuria (IH) may exhibit decreased bone mineral density (BMD). We have studied a large group of children with IH and related their BMD values to several renal function parameters and calcium and bone metabolism markers. Children with IH had higher osteocalcin and calcitriol(More)
Dent’s disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability. Patients also present variable manifestations of proximal(More)
BACKGROUND Renal malformations including vesico-ureteral reflux (VUR) are associated with urolithiasis. However, studies on urinary calcium excretion in children with VUR have not been reported. This study was conducted to find out whether children with VUR have a higher prevalence of hypercalciuria and whether their family members are affected by(More)
Functional and morphological analyses indicated that the epithelial Ca2+ channel (ECaC), which was recently cloned from rabbit kidney, exhibits the defining properties for being the gatekeeper in transcellular Ca2+ (re)absorption. Its human homologue provides, therefore, a molecular basis for achieving a better understanding of Ca2+ mal(re)absorption. By(More)
Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and eventual renal failure. Various types of mutations in the renal chloride channel gene, CLCN5, have been identified in patients with this disease. We studied a Spanish patient with Dent's disease and(More)
Mutations in the gene coding for the renal tight junction protein claudin 16 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, an autosomal recessive disorder of renal Ca(2+) and Mg(2+) handling that progressively leads to chronic renal failure, with nephrolithiasis having been reported in heterozygous carriers. Screening a cohort of(More)
Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalaemic salt-losing tubulopathies. Five types of BS caused by different genetic defects have been identified, and one of them is associated with sensorineural deafness (BSND). Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be(More)
To determine the effect of thiazide treatment on bone mineral density (BMD) in children with idiopathic hypercalciuria (IH) and osteopenia, we reviewed the case notes of 22 children aged 11.7 ± 2.7 years diagnosed with IH and osteopenia who had received thiazides for 2.4 years. The data on this group were compared with those of 32 IH children with(More)
AbstractMutations in the voltage-gated chloride/proton antiporter ClC-5 gene, CLCN5, are associated with Dent's disease, an X-linked renal tubulopathy. Our interest is to identify and characterize disease-causing CLCN5 mutations, especially those that alter the splicing of the pre-mRNA. We analyzed the CLCN5 gene from nine unrelated Spanish Dent's disease(More)
In a recent paper published in Pediatric Nephrology, Forster et al. have tried to show that some patients who have recurrent urinary tract infections (UTI) without a locally identifiable cause are deficient in neutrophil gelatinase-associated lipocalin (NGAL). The authors found that urinary NGAL concentrations were significantly lower in patients than in(More)