The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.
Recent advances in molecular biology have characterised a new class of chloride channels (CLCs) that are referred to as voltage-gated CLCs. To date nine such voltage-gated CLCs (CLC-1 to CLC-7, CLC-Ka and CLC-Kb, which are encoded by the genes CLCN1 to CLCN7, CLC-Ka and CLC-Kb, respectively) have be...
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| Format: | Journal article |
| Language: | English |
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1998
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| _version_ | 1826271174848413696 |
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| author | Thakker, R |
| author_facet | Thakker, R |
| author_sort | Thakker, R |
| collection | OXFORD |
| description | Recent advances in molecular biology have characterised a new class of chloride channels (CLCs) that are referred to as voltage-gated CLCs. To date nine such voltage-gated CLCs (CLC-1 to CLC-7, CLC-Ka and CLC-Kb, which are encoded by the genes CLCN1 to CLCN7, CLC-Ka and CLC-Kb, respectively) have been identified in mammals. Mutations in two of these, CLC-5 and CLC-Kb, have been defined in the hypercalciuric nephrolithiasis disorders of Dent's disease and a form of Bartter's syndrome, respectively. In addition, other forms of Bartter's syndrome have been defined with mutations involving the bumetanide-sensitive sodium-potassium-chloride cotransporter (NKCC2) and the potassium channel ROMK. Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome, in which hypocalciuria and hypomagnesaemia are notable features. These molecular genetic studies have increased our understanding of the renal tubular mechanisms that regulate mineral homeostasis. |
| first_indexed | 2024-03-06T21:52:30Z |
| format | Journal article |
| id | oxford-uuid:4bc9a6db-e2c8-4f6f-b08e-cad99c5e9de4 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:52:30Z |
| publishDate | 1998 |
| record_format | dspace |
| spelling | oxford-uuid:4bc9a6db-e2c8-4f6f-b08e-cad99c5e9de42022-03-26T15:45:37ZThe role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:4bc9a6db-e2c8-4f6f-b08e-cad99c5e9de4EnglishSymplectic Elements at Oxford1998Thakker, RRecent advances in molecular biology have characterised a new class of chloride channels (CLCs) that are referred to as voltage-gated CLCs. To date nine such voltage-gated CLCs (CLC-1 to CLC-7, CLC-Ka and CLC-Kb, which are encoded by the genes CLCN1 to CLCN7, CLC-Ka and CLC-Kb, respectively) have been identified in mammals. Mutations in two of these, CLC-5 and CLC-Kb, have been defined in the hypercalciuric nephrolithiasis disorders of Dent's disease and a form of Bartter's syndrome, respectively. In addition, other forms of Bartter's syndrome have been defined with mutations involving the bumetanide-sensitive sodium-potassium-chloride cotransporter (NKCC2) and the potassium channel ROMK. Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome, in which hypocalciuria and hypomagnesaemia are notable features. These molecular genetic studies have increased our understanding of the renal tubular mechanisms that regulate mineral homeostasis. |
| spellingShingle | Thakker, R The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. |
| title | The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. |
| title_full | The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. |
| title_fullStr | The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. |
| title_full_unstemmed | The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. |
| title_short | The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. |
| title_sort | role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis |
| work_keys_str_mv | AT thakkerr theroleofrenalchloridechannelmutationsinkidneystonediseaseandnephrocalcinosis AT thakkerr roleofrenalchloridechannelmutationsinkidneystonediseaseandnephrocalcinosis |