dent disease/proteinuria

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Proteinuria in Dent disease: a review of the literature.

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BACKGROUND Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP)

Expanding the phenotype of proteinuria in Dent disease. A case series.

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BACKGROUND Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009). A recent case series identified four patients with CLCN5 mutations who presented

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.

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Dent disease type 1 (DD1) is a rare X-linked disorder caused mainly by CLCN5 mutations. Patients may present with nephrotic-range proteinuria leading to erroneous diagnosis of focal segmental glomerulosclerosis (FSGS) and unnecessary immunosuppressive

A case of Type 1 Dent disease presenting with isolated persistent proteinuria.

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Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. Thirty to 80% of affected males develop

Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.

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Dent disease is an X-linked disorder characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, urolithiasis and renal dysfunction. Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common

[Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].

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OBJECTIVE To analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease. METHODS The clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing. RESULTS All the six patients

A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease.

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[Dent disease (idiopathic tubular proteinuria): Pathogenesis, pathophysiology, and therapy].

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Dent disease in children: diagnostic and therapeutic considerations.

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BACKGROUND Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

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The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the

Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.

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Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently been shown to preserve kidney function in

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).

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Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.Here we report a 3-year and

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

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To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of

Growth hormone improves growth rate and preserves renal function in Dent disease.

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Dent disease, an X-linked recessive renal tubular disease, results from loss-of-function mutations in the CLCN5 chloride channel gene. The effects of Dent disease on growth have not been described. We report siblings who presented with proteinuria, calciuria, and phosphaturia and growth failure who

From protein uptake to Dent disease: an overview of the CLCN5 gene.

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Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality. In the kidney, the chloride channel Cl^-/H⁺ exchanger ClC-5 encoded by the CLCN5 gene is actively involved in

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