Loading…
Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?
Background Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of thr...
Saved in:
| Published in: | Pediatric pulmonology 2019-10, Vol.54 (10), p.1578-1583 |
|---|---|
| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3 |
| container_end_page | 1583 |
| container_issue | 10 |
| container_start_page | 1578 |
| container_title | Pediatric pulmonology |
| container_volume | 54 |
| creator | Poli, Piercarlo Rose, Domenico Umberto Timpano, Silviana Savoldi, Gianfranco Padoan, Rita |
| description | Background
Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of three CF‐negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases.
Methods
Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium ( |
| doi_str_mv | 10.1002/ppul.24433 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2261979935</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2261979935</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3</originalsourceid><addsrcrecordid>eNp9kLFOwzAURS0EoqWw8AEoI0JK8YsTJ54QVBSQKlFBO6LItV9EUBIHOxHKxifwjXwJKQFGpjfc885wCDkGOgVKg_O6botpEIaM7ZAxUCF8Ggq-S8ZJHEU-TzgbkQPnXijtNwH7ZMSABQnjfEyeHp9NW2gvd6aQDWpv6bDV5vP940rapkHrua7S1pTobdBTpnK5Rttz0pvNVw89Z3F41L3C9ptnMi-vMlmp7uKQ7GWycHj0cydkPb9ezW79xf3N3exy4SsWCOYLoIwqFEwmMYQolUpCAVHMtAg3qEIeM4BAcaogEgGEKlYAXGdMMZFFUrMJOR28tTWvLbomLXOnsChkhaZ1aRBwELEQLOrRswFV1jhnMUtrm5fSdinQdJsz3eZMv3P28MmPt92UqP_Q3349AAPwlhfY_aNKl8v1YpB-Af50gas</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2261979935</pqid></control><display><type>article</type><title>Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?</title><source>Wiley-Blackwell Read & Publish Collection</source><creator>Poli, Piercarlo ; Rose, Domenico Umberto ; Timpano, Silviana ; Savoldi, Gianfranco ; Padoan, Rita</creator><creatorcontrib>Poli, Piercarlo ; Rose, Domenico Umberto ; Timpano, Silviana ; Savoldi, Gianfranco ; Padoan, Rita</creatorcontrib><description>Background
Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of three CF‐negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases.
Methods
Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (<134mmol/L), potassium (
<3.4mmol/L), and chloride (
<100mmol/L), with metabolic alkalosis (bicarbonatemia >27mmol/L) in the absence of renal tubulopathy.
Results
Three out of 73 (4%) CF infants presented with a severe metabolic alkalosis with salt depletion; two of these required admission to the intensive care unit. Two infants had a negative NBS, and one was identified as a CF carrier. Sweat test was repeatedly in the negative/borderline ranges for all patients. Less than two CF causing mutations were identified (F508del/R1070W, F508del; L467F/P5L, R1066H/P5L). During a mean follow‐up of 9 years, the children had no other CF manifestations.
Conclusion
We suggest that PBS as the sole manifestation of CFTR dysfunction might be considered a CFTR‐related disorder of infancy.</description><identifier>ISSN: 8755-6863</identifier><identifier>EISSN: 1099-0496</identifier><identifier>DOI: 10.1002/ppul.24433</identifier><identifier>PMID: 31328366</identifier><language>eng</language><publisher>United States</publisher><subject>Bartter Syndrome - genetics ; CFTR ; CFTR‐related disorder ; cystic fibrosis ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; metabolic alkalosis ; Metabolic Diseases - genetics ; Mutation ; Pseudo‐Bartter syndrome ; salt depletion</subject><ispartof>Pediatric pulmonology, 2019-10, Vol.54 (10), p.1578-1583</ispartof><rights>2019 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3</citedby><cites>FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3</cites><orcidid>0000-0002-0624-8125 ; 0000-0002-6417-4216</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31328366$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Poli, Piercarlo</creatorcontrib><creatorcontrib>Rose, Domenico Umberto</creatorcontrib><creatorcontrib>Timpano, Silviana</creatorcontrib><creatorcontrib>Savoldi, Gianfranco</creatorcontrib><creatorcontrib>Padoan, Rita</creatorcontrib><title>Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?</title><title>Pediatric pulmonology</title><addtitle>Pediatr Pulmonol</addtitle><description>Background
Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of three CF‐negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases.
Methods
Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (<134mmol/L), potassium (
<3.4mmol/L), and chloride (
<100mmol/L), with metabolic alkalosis (bicarbonatemia >27mmol/L) in the absence of renal tubulopathy.
Results
Three out of 73 (4%) CF infants presented with a severe metabolic alkalosis with salt depletion; two of these required admission to the intensive care unit. Two infants had a negative NBS, and one was identified as a CF carrier. Sweat test was repeatedly in the negative/borderline ranges for all patients. Less than two CF causing mutations were identified (F508del/R1070W, F508del; L467F/P5L, R1066H/P5L). During a mean follow‐up of 9 years, the children had no other CF manifestations.
Conclusion
We suggest that PBS as the sole manifestation of CFTR dysfunction might be considered a CFTR‐related disorder of infancy.</description><subject>Bartter Syndrome - genetics</subject><subject>CFTR</subject><subject>CFTR‐related disorder</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>metabolic alkalosis</subject><subject>Metabolic Diseases - genetics</subject><subject>Mutation</subject><subject>Pseudo‐Bartter syndrome</subject><subject>salt depletion</subject><issn>8755-6863</issn><issn>1099-0496</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNp9kLFOwzAURS0EoqWw8AEoI0JK8YsTJ54QVBSQKlFBO6LItV9EUBIHOxHKxifwjXwJKQFGpjfc885wCDkGOgVKg_O6botpEIaM7ZAxUCF8Ggq-S8ZJHEU-TzgbkQPnXijtNwH7ZMSABQnjfEyeHp9NW2gvd6aQDWpv6bDV5vP940rapkHrua7S1pTobdBTpnK5Rttz0pvNVw89Z3F41L3C9ptnMi-vMlmp7uKQ7GWycHj0cydkPb9ezW79xf3N3exy4SsWCOYLoIwqFEwmMYQolUpCAVHMtAg3qEIeM4BAcaogEgGEKlYAXGdMMZFFUrMJOR28tTWvLbomLXOnsChkhaZ1aRBwELEQLOrRswFV1jhnMUtrm5fSdinQdJsz3eZMv3P28MmPt92UqP_Q3349AAPwlhfY_aNKl8v1YpB-Af50gas</recordid><startdate>201910</startdate><enddate>201910</enddate><creator>Poli, Piercarlo</creator><creator>Rose, Domenico Umberto</creator><creator>Timpano, Silviana</creator><creator>Savoldi, Gianfranco</creator><creator>Padoan, Rita</creator><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><orcidid>https://orcid.org/0000-0002-0624-8125</orcidid><orcidid>https://orcid.org/0000-0002-6417-4216</orcidid></search><sort><creationdate>201910</creationdate><title>Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?</title><author>Poli, Piercarlo ; Rose, Domenico Umberto ; Timpano, Silviana ; Savoldi, Gianfranco ; Padoan, Rita</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Bartter Syndrome - genetics</topic><topic>CFTR</topic><topic>CFTR‐related disorder</topic><topic>cystic fibrosis</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>metabolic alkalosis</topic><topic>Metabolic Diseases - genetics</topic><topic>Mutation</topic><topic>Pseudo‐Bartter syndrome</topic><topic>salt depletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Poli, Piercarlo</creatorcontrib><creatorcontrib>Rose, Domenico Umberto</creatorcontrib><creatorcontrib>Timpano, Silviana</creatorcontrib><creatorcontrib>Savoldi, Gianfranco</creatorcontrib><creatorcontrib>Padoan, Rita</creatorcontrib><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><jtitle>Pediatric pulmonology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Poli, Piercarlo</au><au>Rose, Domenico Umberto</au><au>Timpano, Silviana</au><au>Savoldi, Gianfranco</au><au>Padoan, Rita</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?</atitle><jtitle>Pediatric pulmonology</jtitle><addtitle>Pediatr Pulmonol</addtitle><date>2019-10</date><risdate>2019</risdate><volume>54</volume><issue>10</issue><spage>1578</spage><epage>1583</epage><pages>1578-1583</pages><issn>8755-6863</issn><eissn>1099-0496</eissn><abstract>Background
Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS). Here, we report the cases of three CF‐negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases.
Methods
Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (<134mmol/L), potassium (
<3.4mmol/L), and chloride (
<100mmol/L), with metabolic alkalosis (bicarbonatemia >27mmol/L) in the absence of renal tubulopathy.
Results
Three out of 73 (4%) CF infants presented with a severe metabolic alkalosis with salt depletion; two of these required admission to the intensive care unit. Two infants had a negative NBS, and one was identified as a CF carrier. Sweat test was repeatedly in the negative/borderline ranges for all patients. Less than two CF causing mutations were identified (F508del/R1070W, F508del; L467F/P5L, R1066H/P5L). During a mean follow‐up of 9 years, the children had no other CF manifestations.
Conclusion
We suggest that PBS as the sole manifestation of CFTR dysfunction might be considered a CFTR‐related disorder of infancy.</abstract><cop>United States</cop><pmid>31328366</pmid><doi>10.1002/ppul.24433</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-0624-8125</orcidid><orcidid>https://orcid.org/0000-0002-6417-4216</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 8755-6863 |
| ispartof | Pediatric pulmonology, 2019-10, Vol.54 (10), p.1578-1583 |
| issn | 8755-6863 1099-0496 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2261979935 |
| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Bartter Syndrome - genetics CFTR CFTR‐related disorder cystic fibrosis Cystic Fibrosis Transmembrane Conductance Regulator - genetics Female Humans Infant Infant, Newborn Male metabolic alkalosis Metabolic Diseases - genetics Mutation Pseudo‐Bartter syndrome salt depletion |
| title | Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy? |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T18%3A06%3A44IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Should%20isolated%20Pseudo%E2%80%90Bartter%20syndrome%20be%20considered%20a%20CFTR%E2%80%90related%20disorder%20of%20infancy?&rft.jtitle=Pediatric%20pulmonology&rft.au=Poli,%20Piercarlo&rft.date=2019-10&rft.volume=54&rft.issue=10&rft.spage=1578&rft.epage=1583&rft.pages=1578-1583&rft.issn=8755-6863&rft.eissn=1099-0496&rft_id=info:doi/10.1002/ppul.24433&rft_dat=%3Cproquest_cross%3E2261979935%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3293-91030ce93a8714eacc8491573d94bec4673112c60c159214c7c116df3c39f5ad3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2261979935&rft_id=info:pmid/31328366&rfr_iscdi=true |