Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China

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Abstract

Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations.

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Glomerular Pathology in Dent Disease and Its Association with Kidney Function.

Xiangling Wang, Franca Anglani, Lada Beara-Lasic … (2016)

Dent disease is a rare X-linked disorder characterized by low molecular weight proteinuria and often considered a renal tubular disease. However, glomerulosclerosis was recently reported in several patients. Thus, Dent disease renal histopathologic features were characterized and assessed, and their association with kidney function was assessed.

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Dent's disease: clinical features and molecular basis.

Félix Claverie-Martín, Elena Ramos-Trujillo, Víctor García-Nieto (2011)

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 tubule dysfunctions, such as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent's disease affects mainly male children, and female carriers are generally asymptomatic. In two-thirds of patients, the disease is caused by mutations in the CLCN5 gene, which encodes the electrogenic chloride/proton exchanger ClC-5. A few patients have mutations in OCRL1, the gene associated with the oculocerebrorenal syndrome of Lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (OCRL1). Both ClC-5 and OCRL1 are involved in the endocytic pathway for reabsorption of LMW proteins in the proximal tubule. This review will provide an overview of the important phenotypic characteristics of Dent's disease and summarize the molecular data that have significantly increased our comprehension of the mechanisms causing this disease.

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Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

Efrat Ben-Zeev, Choni Rinat, Paulina Navon-Elkan … (2009)

Dent's disease is an X-linked proximal tubulopathy. It often manifests in childhood with symptoms of Fanconi syndrome and low-molecular-weight proteinuria. We describe four boys from three unrelated families whose only presenting symptoms of Dent's disease were nephrotic-range proteinuria and histological findings of focal segmental and/or global glomerulosclerosis. In all families, a causal mutation in the CLCN5 gene, encoding a voltage-gated chloride transporter and chloride-proton exchanger, was identified. All three mutations are pathogenic: two are novel (p.Asp727fs and p.Trp122X), and one is a recurrent mutation, p.R648X. Given the atypical phenotype of these patients with Dent's disease, it is possible that this clinical entity is markedly underdiagnosed and that our report represents only the tip of the iceberg. The diagnosis of Dent's disease should be considered in all patients with nephrotic-range proteinuria without hypoalbuminemia or edema. Establishing the diagnosis of Dent's disease will prevent the administration of unnecessary immunosuppressive medications with their undesirable side effects.

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Author and article information

Journal

Title: Intractable & Rare Diseases Research

Abbreviated Title: IRDR

Publisher: International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

ISSN (Electronic): 2186-361X

ISSN (Print): 2186-3644

Publication date Created: 2017

Publication date (Print): 2017

Volume: 6

Issue: 2

Pages: 114-118

Affiliations

[1 ]Department of Pediatric, Peking University First Hospital

Article

DOI: 10.5582/irdr.2017.01019

PMC ID: 5451742

PubMed ID: 28580211

SO-VID: 2bb0611e-e160-48ce-9380-8b847003d8c8

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Dent disease: Same <i>CLCN5</i> mutation but different phenotypes in two brothers in China

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Most cited references 12

Glomerular Pathology in Dent Disease and Its Association with Kidney Function.

Dent's disease: clinical features and molecular basis.

Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

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