Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransport...
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| Veröffentlicht in: | Kidney international 2017-01, Vol.91 (1), p.24-33 |
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| creator | Blanchard, Anne Bockenhauer, Detlef Bolignano, Davide Calò, Lorenzo A. Cosyns, Etienne Devuyst, Olivier Ellison, David H. Karet Frankl, Fiona E. Knoers, Nine V.A.M. Konrad, Martin Lin, Shih-Hua Vargas-Poussou, Rosa |
| description | Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. A general problem in rare diseases is the lack of high quality evidence to inform diagnosis, prognosis, and management. We report here on the current state of knowledge related to the diagnostic evaluation, follow-up, management, and treatment of GS; identify knowledge gaps; and propose a research agenda to substantiate a number of issues related to GS. This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care. |
| doi_str_mv | 10.1016/j.kint.2016.09.046 |
| format | Article |
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The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. A general problem in rare diseases is the lack of high quality evidence to inform diagnosis, prognosis, and management. We report here on the current state of knowledge related to the diagnostic evaluation, follow-up, management, and treatment of GS; identify knowledge gaps; and propose a research agenda to substantiate a number of issues related to GS. This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care.</description><identifier>ISSN: 0085-2538</identifier><identifier>EISSN: 1523-1755</identifier><identifier>DOI: 10.1016/j.kint.2016.09.046</identifier><identifier>PMID: 28003083</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Angiotensin Receptor Antagonists - therapeutic use ; Angiotensin-Converting Enzyme Inhibitors - therapeutic use ; Anti-Inflammatory Agents, Non-Steroidal - therapeutic use ; Bartter Syndrome - blood ; Bartter Syndrome - diagnosis ; Bartter Syndrome - genetics ; Bartter Syndrome - urine ; Calcium - urine ; Chloride Channels - genetics ; Chondrocalcinosis - etiology ; Chondrocalcinosis - prevention & control ; Consensus Development Conferences as Topic ; Diagnosis, Differential ; Dietary Supplements ; Genetic Testing ; Gitelman Syndrome - complications ; Gitelman Syndrome - diagnosis ; Gitelman Syndrome - drug therapy ; Gitelman Syndrome - genetics ; Human health and pathology ; Humans ; Hypokalemia - blood ; Hypokalemia - genetics ; hypokalemic metabolic alkalosis ; hypomagnesemia ; Life Sciences ; Magnesium - administration & dosage ; Magnesium - blood ; Magnesium - therapeutic use ; Mutation ; Phenotype ; Potassium - administration & dosage ; Potassium - blood ; Potassium - therapeutic use ; Practice Guidelines as Topic ; Quality of Life ; Rare Diseases - genetics ; salt-losing tubulopathy ; SLC12A3 ; Sodium Chloride, Dietary - therapeutic use ; Solute Carrier Family 12, Member 3 - genetics ; thiazide-sensitive sodium-chloride cotransporter ; Ultrasonography ; Urology and Nephrology</subject><ispartof>Kidney international, 2017-01, Vol.91 (1), p.24-33</ispartof><rights>2016 International Society of Nephrology</rights><rights>Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c500t-b7d54a22d58fe9388127c131bd654f7f532ac195a546ed6a95f5c0481985609c3</citedby><cites>FETCH-LOGICAL-c500t-b7d54a22d58fe9388127c131bd654f7f532ac195a546ed6a95f5c0481985609c3</cites><orcidid>0000-0002-4169-0680 ; 0000-0003-3032-245X ; 0000-0002-0815-0586</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,4010,27900,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28003083$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03121301$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Blanchard, Anne</creatorcontrib><creatorcontrib>Bockenhauer, Detlef</creatorcontrib><creatorcontrib>Bolignano, Davide</creatorcontrib><creatorcontrib>Calò, Lorenzo A.</creatorcontrib><creatorcontrib>Cosyns, Etienne</creatorcontrib><creatorcontrib>Devuyst, Olivier</creatorcontrib><creatorcontrib>Ellison, David H.</creatorcontrib><creatorcontrib>Karet Frankl, Fiona E.</creatorcontrib><creatorcontrib>Knoers, Nine V.A.M.</creatorcontrib><creatorcontrib>Konrad, Martin</creatorcontrib><creatorcontrib>Lin, Shih-Hua</creatorcontrib><creatorcontrib>Vargas-Poussou, Rosa</creatorcontrib><title>Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference</title><title>Kidney international</title><addtitle>Kidney Int</addtitle><description>Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. A general problem in rare diseases is the lack of high quality evidence to inform diagnosis, prognosis, and management. We report here on the current state of knowledge related to the diagnostic evaluation, follow-up, management, and treatment of GS; identify knowledge gaps; and propose a research agenda to substantiate a number of issues related to GS. This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care.</description><subject>Angiotensin Receptor Antagonists - therapeutic use</subject><subject>Angiotensin-Converting Enzyme Inhibitors - therapeutic use</subject><subject>Anti-Inflammatory Agents, Non-Steroidal - therapeutic use</subject><subject>Bartter Syndrome - blood</subject><subject>Bartter Syndrome - diagnosis</subject><subject>Bartter Syndrome - genetics</subject><subject>Bartter Syndrome - urine</subject><subject>Calcium - urine</subject><subject>Chloride Channels - genetics</subject><subject>Chondrocalcinosis - etiology</subject><subject>Chondrocalcinosis - prevention & control</subject><subject>Consensus Development Conferences as Topic</subject><subject>Diagnosis, Differential</subject><subject>Dietary Supplements</subject><subject>Genetic Testing</subject><subject>Gitelman Syndrome - complications</subject><subject>Gitelman Syndrome - diagnosis</subject><subject>Gitelman Syndrome - drug therapy</subject><subject>Gitelman Syndrome - genetics</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Hypokalemia - blood</subject><subject>Hypokalemia - genetics</subject><subject>hypokalemic metabolic alkalosis</subject><subject>hypomagnesemia</subject><subject>Life Sciences</subject><subject>Magnesium - administration & dosage</subject><subject>Magnesium - blood</subject><subject>Magnesium - therapeutic use</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Potassium - administration & dosage</subject><subject>Potassium - blood</subject><subject>Potassium - therapeutic use</subject><subject>Practice Guidelines as Topic</subject><subject>Quality of Life</subject><subject>Rare Diseases - genetics</subject><subject>salt-losing tubulopathy</subject><subject>SLC12A3</subject><subject>Sodium Chloride, Dietary - therapeutic use</subject><subject>Solute Carrier Family 12, Member 3 - genetics</subject><subject>thiazide-sensitive sodium-chloride cotransporter</subject><subject>Ultrasonography</subject><subject>Urology and Nephrology</subject><issn>0085-2538</issn><issn>1523-1755</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kT1v2zAQhomgReKm-QMdCo7JIJUfokQWXQKndYwY8NLMBE2eUroSlZKSASN_vhScZuxE3vG5B-C9CH2ipKSE1l_25W8fxpLle0lUSar6DC2oYLygjRDv0IIQKQomuLxAH1Lak1wrTs7RBZOEcCL5Ar2s_AhdbwJOx-Di0MNXbIeQIKQpYRMcfpq8M8ECbvMrNvjBuwBHfOcTmJTpdf8ch4MPT3jVDTvT4e002uxJ-Prhbr3a3uDlEMaMQEw-d3PVQoRs_Ijet6ZLcPV6XqLHH99_Lu-LzXa1Xt5uCisIGYtd40RlGHNCtqC4lJQ1lnK6c7Wo2qYVnBlLlTCiqsHVRolWWFJJqqSoibL8Et2cvL9Mp5-j70086sF4fX-70XOPcMooJ_RAM3t9YvOn_kyQRt37ZKHrTIBhSppKQWvVMKYyyk6ojUNKEdo3NyV6Dkjv9RyQngPSROkcUB76_Oqfdj24t5F_iWTg2wmAvJGDh6iT9fO2nI9gR-0G_z__X5AloM0</recordid><startdate>201701</startdate><enddate>201701</enddate><creator>Blanchard, Anne</creator><creator>Bockenhauer, Detlef</creator><creator>Bolignano, Davide</creator><creator>Calò, Lorenzo A.</creator><creator>Cosyns, Etienne</creator><creator>Devuyst, Olivier</creator><creator>Ellison, David H.</creator><creator>Karet Frankl, Fiona E.</creator><creator>Knoers, Nine V.A.M.</creator><creator>Konrad, Martin</creator><creator>Lin, Shih-Hua</creator><creator>Vargas-Poussou, Rosa</creator><general>Elsevier Inc</general><general>Nature Publishing Group</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0002-4169-0680</orcidid><orcidid>https://orcid.org/0000-0003-3032-245X</orcidid><orcidid>https://orcid.org/0000-0002-0815-0586</orcidid></search><sort><creationdate>201701</creationdate><title>Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference</title><author>Blanchard, Anne ; Bockenhauer, Detlef ; Bolignano, Davide ; Calò, Lorenzo A. ; Cosyns, Etienne ; Devuyst, Olivier ; Ellison, David H. ; Karet Frankl, Fiona E. ; Knoers, Nine V.A.M. ; Konrad, Martin ; Lin, Shih-Hua ; Vargas-Poussou, Rosa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c500t-b7d54a22d58fe9388127c131bd654f7f532ac195a546ed6a95f5c0481985609c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Angiotensin Receptor Antagonists - therapeutic use</topic><topic>Angiotensin-Converting Enzyme Inhibitors - therapeutic use</topic><topic>Anti-Inflammatory Agents, Non-Steroidal - therapeutic use</topic><topic>Bartter Syndrome - blood</topic><topic>Bartter Syndrome - diagnosis</topic><topic>Bartter Syndrome - genetics</topic><topic>Bartter Syndrome - urine</topic><topic>Calcium - urine</topic><topic>Chloride Channels - genetics</topic><topic>Chondrocalcinosis - etiology</topic><topic>Chondrocalcinosis - prevention & control</topic><topic>Consensus Development Conferences as Topic</topic><topic>Diagnosis, Differential</topic><topic>Dietary Supplements</topic><topic>Genetic Testing</topic><topic>Gitelman Syndrome - complications</topic><topic>Gitelman Syndrome - diagnosis</topic><topic>Gitelman Syndrome - drug therapy</topic><topic>Gitelman Syndrome - genetics</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Hypokalemia - blood</topic><topic>Hypokalemia - genetics</topic><topic>hypokalemic metabolic alkalosis</topic><topic>hypomagnesemia</topic><topic>Life Sciences</topic><topic>Magnesium - administration & dosage</topic><topic>Magnesium - blood</topic><topic>Magnesium - therapeutic use</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Potassium - administration & dosage</topic><topic>Potassium - blood</topic><topic>Potassium - therapeutic use</topic><topic>Practice Guidelines as Topic</topic><topic>Quality of Life</topic><topic>Rare Diseases - genetics</topic><topic>salt-losing tubulopathy</topic><topic>SLC12A3</topic><topic>Sodium Chloride, Dietary - therapeutic use</topic><topic>Solute Carrier Family 12, Member 3 - genetics</topic><topic>thiazide-sensitive sodium-chloride cotransporter</topic><topic>Ultrasonography</topic><topic>Urology and Nephrology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Blanchard, Anne</creatorcontrib><creatorcontrib>Bockenhauer, Detlef</creatorcontrib><creatorcontrib>Bolignano, Davide</creatorcontrib><creatorcontrib>Calò, Lorenzo A.</creatorcontrib><creatorcontrib>Cosyns, Etienne</creatorcontrib><creatorcontrib>Devuyst, Olivier</creatorcontrib><creatorcontrib>Ellison, David H.</creatorcontrib><creatorcontrib>Karet Frankl, Fiona E.</creatorcontrib><creatorcontrib>Knoers, Nine V.A.M.</creatorcontrib><creatorcontrib>Konrad, Martin</creatorcontrib><creatorcontrib>Lin, Shih-Hua</creatorcontrib><creatorcontrib>Vargas-Poussou, Rosa</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>Kidney international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Blanchard, Anne</au><au>Bockenhauer, Detlef</au><au>Bolignano, Davide</au><au>Calò, Lorenzo A.</au><au>Cosyns, Etienne</au><au>Devuyst, Olivier</au><au>Ellison, David H.</au><au>Karet Frankl, Fiona E.</au><au>Knoers, Nine V.A.M.</au><au>Konrad, Martin</au><au>Lin, Shih-Hua</au><au>Vargas-Poussou, Rosa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference</atitle><jtitle>Kidney international</jtitle><addtitle>Kidney Int</addtitle><date>2017-01</date><risdate>2017</risdate><volume>91</volume><issue>1</issue><spage>24</spage><epage>33</epage><pages>24-33</pages><issn>0085-2538</issn><eissn>1523-1755</eissn><abstract>Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. A general problem in rare diseases is the lack of high quality evidence to inform diagnosis, prognosis, and management. We report here on the current state of knowledge related to the diagnostic evaluation, follow-up, management, and treatment of GS; identify knowledge gaps; and propose a research agenda to substantiate a number of issues related to GS. This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>28003083</pmid><doi>10.1016/j.kint.2016.09.046</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-4169-0680</orcidid><orcidid>https://orcid.org/0000-0003-3032-245X</orcidid><orcidid>https://orcid.org/0000-0002-0815-0586</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Kidney international, 2017-01, Vol.91 (1), p.24-33 |
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| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Angiotensin Receptor Antagonists - therapeutic use Angiotensin-Converting Enzyme Inhibitors - therapeutic use Anti-Inflammatory Agents, Non-Steroidal - therapeutic use Bartter Syndrome - blood Bartter Syndrome - diagnosis Bartter Syndrome - genetics Bartter Syndrome - urine Calcium - urine Chloride Channels - genetics Chondrocalcinosis - etiology Chondrocalcinosis - prevention & control Consensus Development Conferences as Topic Diagnosis, Differential Dietary Supplements Genetic Testing Gitelman Syndrome - complications Gitelman Syndrome - diagnosis Gitelman Syndrome - drug therapy Gitelman Syndrome - genetics Human health and pathology Humans Hypokalemia - blood Hypokalemia - genetics hypokalemic metabolic alkalosis hypomagnesemia Life Sciences Magnesium - administration & dosage Magnesium - blood Magnesium - therapeutic use Mutation Phenotype Potassium - administration & dosage Potassium - blood Potassium - therapeutic use Practice Guidelines as Topic Quality of Life Rare Diseases - genetics salt-losing tubulopathy SLC12A3 Sodium Chloride, Dietary - therapeutic use Solute Carrier Family 12, Member 3 - genetics thiazide-sensitive sodium-chloride cotransporter Ultrasonography Urology and Nephrology |
| title | Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |
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