Antenatal Bartter's syndrome: why is this not a lethal condition?
There are four themes in this teaching exercise for Professor McCance. The first challenge was to explain how a premature infant with Bartter's syndrome could survive despite having such a severe degree of renal salt wasting. Second, the medical team wanted to know why there was such a dramatic...
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| Veröffentlicht in: | QJM : An International Journal of Medicine 2008-12, Vol.101 (12), p.927-942 |
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| creator | Bockenhauer, D. Cruwys, M. Kleta, R. Halperin, L.F. Wildgoose, P. Souma, T. Nukiwa, N. Cheema-Dhadli, S. Chong, C.K. Kamel, K.S. Davids, M.R. Halperin, M.L. |
| description | There are four themes in this teaching exercise for Professor McCance. The first challenge was to explain how a premature infant with Bartter's syndrome could survive despite having such a severe degree of renal salt wasting. Second, the medical team wanted to know why there was such a dramatic decrease in the natriuresis in response to therapy, despite the presence of a permanent molecular defect that affected the loop of Henle. Third, Professor McCance was asked why this patient seemed to have a second rare disease, AQP2 deficiency type of nephrogenic diabetes insipidus. The fourth challenge was to develop a diagnostic test to help the parents of this baby titrate the dose of indomethacin to ensure an effective dose while minimizing the likelihood of developing nephrotoxicity. The missing links in this interesting story emerge during a discussion between the medical team and its mentor. |
| doi_str_mv | 10.1093/qjmed/hcn119 |
| format | Article |
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The first challenge was to explain how a premature infant with Bartter's syndrome could survive despite having such a severe degree of renal salt wasting. Second, the medical team wanted to know why there was such a dramatic decrease in the natriuresis in response to therapy, despite the presence of a permanent molecular defect that affected the loop of Henle. Third, Professor McCance was asked why this patient seemed to have a second rare disease, AQP2 deficiency type of nephrogenic diabetes insipidus. The fourth challenge was to develop a diagnostic test to help the parents of this baby titrate the dose of indomethacin to ensure an effective dose while minimizing the likelihood of developing nephrotoxicity. The missing links in this interesting story emerge during a discussion between the medical team and its mentor.</description><identifier>ISSN: 1460-2725</identifier><identifier>EISSN: 1460-2393</identifier><identifier>DOI: 10.1093/qjmed/hcn119</identifier><identifier>PMID: 18829713</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Animals ; Aquaporin 1 - deficiency ; Bartter Syndrome - complications ; Bartter Syndrome - congenital ; Bartter Syndrome - therapy ; Biological and medical sciences ; Chlorides - urine ; Diabetes Insipidus, Nephrogenic - diagnosis ; Diabetes Insipidus, Nephrogenic - drug therapy ; General aspects ; Glomerulonephritis ; Humans ; Hyperaldosteronism - etiology ; Indomethacin - administration & dosage ; Infant ; Infant, Newborn ; Infant, Premature ; Kidney Diseases - diagnosis ; Kidney Diseases - physiopathology ; Loop of Henle - physiology ; Male ; Medical sciences ; Nephrology. Urinary tract diseases ; Nephropathies. Renovascular diseases. Renal failure ; Rats ; Sodium - metabolism ; Sodium - urine</subject><ispartof>QJM : An International Journal of Medicine, 2008-12, Vol.101 (12), p.927-942</ispartof><rights>The Author 2008. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2008</rights><rights>2009 INIST-CNRS</rights><rights>The Author 2008. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c454t-f02a8b80004e6075f0d21382472c3c38fadda479d43293021161d30c8226ddf93</citedby><cites>FETCH-LOGICAL-c454t-f02a8b80004e6075f0d21382472c3c38fadda479d43293021161d30c8226ddf93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,1585,27929,27930</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20955151$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18829713$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bockenhauer, D.</creatorcontrib><creatorcontrib>Cruwys, M.</creatorcontrib><creatorcontrib>Kleta, R.</creatorcontrib><creatorcontrib>Halperin, L.F.</creatorcontrib><creatorcontrib>Wildgoose, P.</creatorcontrib><creatorcontrib>Souma, T.</creatorcontrib><creatorcontrib>Nukiwa, N.</creatorcontrib><creatorcontrib>Cheema-Dhadli, S.</creatorcontrib><creatorcontrib>Chong, C.K.</creatorcontrib><creatorcontrib>Kamel, K.S.</creatorcontrib><creatorcontrib>Davids, M.R.</creatorcontrib><creatorcontrib>Halperin, M.L.</creatorcontrib><title>Antenatal Bartter's syndrome: why is this not a lethal condition?</title><title>QJM : An International Journal of Medicine</title><addtitle>QJM</addtitle><description>There are four themes in this teaching exercise for Professor McCance. The first challenge was to explain how a premature infant with Bartter's syndrome could survive despite having such a severe degree of renal salt wasting. Second, the medical team wanted to know why there was such a dramatic decrease in the natriuresis in response to therapy, despite the presence of a permanent molecular defect that affected the loop of Henle. Third, Professor McCance was asked why this patient seemed to have a second rare disease, AQP2 deficiency type of nephrogenic diabetes insipidus. The fourth challenge was to develop a diagnostic test to help the parents of this baby titrate the dose of indomethacin to ensure an effective dose while minimizing the likelihood of developing nephrotoxicity. The missing links in this interesting story emerge during a discussion between the medical team and its mentor.</description><subject>Animals</subject><subject>Aquaporin 1 - deficiency</subject><subject>Bartter Syndrome - complications</subject><subject>Bartter Syndrome - congenital</subject><subject>Bartter Syndrome - therapy</subject><subject>Biological and medical sciences</subject><subject>Chlorides - urine</subject><subject>Diabetes Insipidus, Nephrogenic - diagnosis</subject><subject>Diabetes Insipidus, Nephrogenic - drug therapy</subject><subject>General aspects</subject><subject>Glomerulonephritis</subject><subject>Humans</subject><subject>Hyperaldosteronism - etiology</subject><subject>Indomethacin - administration & dosage</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infant, Premature</subject><subject>Kidney Diseases - diagnosis</subject><subject>Kidney Diseases - physiopathology</subject><subject>Loop of Henle - physiology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Nephropathies. Renovascular diseases. Renal failure</subject><subject>Rats</subject><subject>Sodium - metabolism</subject><subject>Sodium - urine</subject><issn>1460-2725</issn><issn>1460-2393</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0MFLwzAUBvAgitPpzbMUQXaxLi9p2tSLzKFOGXpQQbyELElZ55ZuSYbuv7ezc1cvSQg_3vf4EDoBfAk4p93FZGZ0d6wsQL6DDiBJcUxoTnf_3hlhLXTo_QRjnGQJ30ct4JzkGdAD1OvZYKwMchrdSBeCcR0f-ZXVrpqZq-hrvIpKH4VxfdgqRDKamjCusaqsLkNZ2esjtFfIqTfHm7uN3u5uX_uDePh8_9DvDWOVsCTEBSaSj_h6B5PijBVYE6CcJBlRVFFeSK1lkuU6oSSnmACkoClWnJBU6yKnbXTWzJ27arE0PohJtXS2jhSE5IxhDLxGFw1SrvLemULMXTmTbiUAi3Vd4rcu0dRV89PNzOVo_b3Fm35qcL4B0is5LZy0qvRbR3AdDAxq12lctZz_Fxk3svTBfG-tdJ8izWjGxOD9Qzyxl8cUgAlKfwDM7I4r</recordid><startdate>20081201</startdate><enddate>20081201</enddate><creator>Bockenhauer, D.</creator><creator>Cruwys, M.</creator><creator>Kleta, R.</creator><creator>Halperin, L.F.</creator><creator>Wildgoose, P.</creator><creator>Souma, T.</creator><creator>Nukiwa, N.</creator><creator>Cheema-Dhadli, S.</creator><creator>Chong, C.K.</creator><creator>Kamel, K.S.</creator><creator>Davids, M.R.</creator><creator>Halperin, M.L.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</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>K9.</scope></search><sort><creationdate>20081201</creationdate><title>Antenatal Bartter's syndrome: why is this not a lethal condition?</title><author>Bockenhauer, D. ; Cruwys, M. ; Kleta, R. ; Halperin, L.F. ; Wildgoose, P. ; Souma, T. ; Nukiwa, N. ; Cheema-Dhadli, S. ; Chong, C.K. ; Kamel, K.S. ; Davids, M.R. ; Halperin, M.L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c454t-f02a8b80004e6075f0d21382472c3c38fadda479d43293021161d30c8226ddf93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Animals</topic><topic>Aquaporin 1 - deficiency</topic><topic>Bartter Syndrome - complications</topic><topic>Bartter Syndrome - congenital</topic><topic>Bartter Syndrome - therapy</topic><topic>Biological and medical sciences</topic><topic>Chlorides - urine</topic><topic>Diabetes Insipidus, Nephrogenic - diagnosis</topic><topic>Diabetes Insipidus, Nephrogenic - drug therapy</topic><topic>General aspects</topic><topic>Glomerulonephritis</topic><topic>Humans</topic><topic>Hyperaldosteronism - etiology</topic><topic>Indomethacin - administration & dosage</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infant, Premature</topic><topic>Kidney Diseases - diagnosis</topic><topic>Kidney Diseases - physiopathology</topic><topic>Loop of Henle - physiology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Nephropathies. Renovascular diseases. Renal failure</topic><topic>Rats</topic><topic>Sodium - metabolism</topic><topic>Sodium - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bockenhauer, D.</creatorcontrib><creatorcontrib>Cruwys, M.</creatorcontrib><creatorcontrib>Kleta, R.</creatorcontrib><creatorcontrib>Halperin, L.F.</creatorcontrib><creatorcontrib>Wildgoose, P.</creatorcontrib><creatorcontrib>Souma, T.</creatorcontrib><creatorcontrib>Nukiwa, N.</creatorcontrib><creatorcontrib>Cheema-Dhadli, S.</creatorcontrib><creatorcontrib>Chong, C.K.</creatorcontrib><creatorcontrib>Kamel, K.S.</creatorcontrib><creatorcontrib>Davids, M.R.</creatorcontrib><creatorcontrib>Halperin, M.L.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><jtitle>QJM : An International Journal of Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bockenhauer, D.</au><au>Cruwys, M.</au><au>Kleta, R.</au><au>Halperin, L.F.</au><au>Wildgoose, P.</au><au>Souma, T.</au><au>Nukiwa, N.</au><au>Cheema-Dhadli, S.</au><au>Chong, C.K.</au><au>Kamel, K.S.</au><au>Davids, M.R.</au><au>Halperin, M.L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Antenatal Bartter's syndrome: why is this not a lethal condition?</atitle><jtitle>QJM : An International Journal of Medicine</jtitle><addtitle>QJM</addtitle><date>2008-12-01</date><risdate>2008</risdate><volume>101</volume><issue>12</issue><spage>927</spage><epage>942</epage><pages>927-942</pages><issn>1460-2725</issn><eissn>1460-2393</eissn><abstract>There are four themes in this teaching exercise for Professor McCance. 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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Animals Aquaporin 1 - deficiency Bartter Syndrome - complications Bartter Syndrome - congenital Bartter Syndrome - therapy Biological and medical sciences Chlorides - urine Diabetes Insipidus, Nephrogenic - diagnosis Diabetes Insipidus, Nephrogenic - drug therapy General aspects Glomerulonephritis Humans Hyperaldosteronism - etiology Indomethacin - administration & dosage Infant Infant, Newborn Infant, Premature Kidney Diseases - diagnosis Kidney Diseases - physiopathology Loop of Henle - physiology Male Medical sciences Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Rats Sodium - metabolism Sodium - urine |
| title | Antenatal Bartter's syndrome: why is this not a lethal condition? |
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