Dent's disease
Steven C. Campbell, M.D., Ph.D.
Overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Dent’s disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the kidney. It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic renal failure.
“Dent’s disease” is often used to describe an entire group of familial disorders, including X-linked recessive nephrolithiasis with renal failure, X-linked recessive hypophosphataemic rickets, and both Japanese and idiopathic low molecular weight proteinuria.[1]
References
- ↑ Mayo Clinic, Division of Nephrology and Hypertension, Mineral Metabolism and Stone Disease
Historical Perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
Dent’s disease was first described by Dent, C. E. and Friedman, M in 1964 when they reported 2 unrelated British boys with rickets associated with renal tubular damage characterized by hypercalciuria, hyperphosphaturia, proteinuria, and aminoaciduria.[1] This is a genetic disorder caused by the genetic mutations in the renal chloride channel ClCN5 which encodes a kidney-specific voltage gated chloride channel and a 746 amino acid protein (CLC-5), with 12 to 13 transmembrane domains; it manifests itself through low molecular weight proteinuria, hypercalciuria, aminoaciduria and hypophosphataemia. Because of its rather rare occurrence, Dent’s disease is often diagnosed as idiopathic hypercalciuria (IH), i.e. excess calcium in urine with undetermined causes.
References
- ↑ Dent CE, Friedman M. Hypercalciuric rickets associated with renal tubular damage
Pathophysiology
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Genetics
Because it is an X-linked recessive disorder, only males are affected with the disease, whereas females are asymptomatic carriers. The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with renal failure in more severe cases.
In humans, gene CLCN5 is located on chromosome Xp11.22 and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746 amino acid protein.[1]
CLCN5 belongs to the family of voltage-gated chloride channel genes (CLCN1-CLCN7, and CLCKa and CLCKb) that have approximately 12 transmembrane domains. These chloride channels have an important role in the control of membrane excitability, transepithelial transport, and possibly cell volume.[2]
The mechanisms by which CLC-5 dysfunction results in hypercalciuria and the other features of Dent’s disease remain to be elucidated. The identification of additional CLCN5 mutations may help in these studies, and we have pursued such studies in patients with Dent’s disease.[3]
References
- ↑ Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW: Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent’s disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet3 : 2053-2059,1994
- ↑ Jentsch TJ, Friedrich T, Schriever A, Yamada H: The CLC chloride channel family. Pflügers Arch 437:783 -795, 1999
- ↑ Katsusuke Yamamoto, Characterization of Renal Chloride Channel (CLCN5) Mutations in Dent’s Disease, J Am Soc Nephrol 11:1460-1468, 2000
Differentiating Dent’s disease from other Diseases
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References
Epidemiology and Demographics
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Natural History, Complications and Prognosis
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Diagnosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Other Diagnostic Studies
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