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ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome
Background Surfactant protein abnormalities are rare causes of respiratory distress syndrome. Case characteristics A late preterm (36 wks) who presented with respiratory distress syndrome. Observation He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3...
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| Published in: | Indian pediatrics 2014-07, Vol.51 (7), p.579-580 |
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| Main Authors: | , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c344t-a8f752a02345c62c639af23abd377a6c12dcfaba3abf7ca7a427d3b49e3760833 |
| container_end_page | 580 |
| container_issue | 7 |
| container_start_page | 579 |
| container_title | Indian pediatrics |
| container_volume | 51 |
| creator | Panigrahy, Nalinikant Poddutoor, Preetham Kumar Chirla, Dinesh Kumar |
| description | Background
Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
Case characteristics
A late preterm (36 wks) who presented with respiratory distress syndrome.
Observation
He was found to be a homozygous for a G to T transversion at the first base in intron 24, of
ABCA3
gene which is necessary for lamellar body formation and surfactant production.
Outcome
He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
Message
Surfactant deficiency with
ABCA3
gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome. |
| doi_str_mv | 10.1007/s13312-014-0454-4 |
| format | article |
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Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
Case characteristics
A late preterm (36 wks) who presented with respiratory distress syndrome.
Observation
He was found to be a homozygous for a G to T transversion at the first base in intron 24, of
ABCA3
gene which is necessary for lamellar body formation and surfactant production.
Outcome
He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
Message
Surfactant deficiency with
ABCA3
gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.</description><identifier>ISSN: 0019-6061</identifier><identifier>EISSN: 0974-7559</identifier><identifier>DOI: 10.1007/s13312-014-0454-4</identifier><identifier>PMID: 25031143</identifier><language>eng</language><publisher>India: Springer India</publisher><subject>ATP-Binding Cassette Transporters - genetics ; Case Reports ; Female ; Humans ; Infant, Premature ; Male ; Maternal and Child Health ; Medicine ; Medicine & Public Health ; Mutation - genetics ; Pediatric Surgery ; Pediatrics ; Pregnancy ; Respiratory Distress Syndrome, Newborn</subject><ispartof>Indian pediatrics, 2014-07, Vol.51 (7), p.579-580</ispartof><rights>Indian Academy of Pediatrics 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c344t-a8f752a02345c62c639af23abd377a6c12dcfaba3abf7ca7a427d3b49e3760833</citedby><cites>FETCH-LOGICAL-c344t-a8f752a02345c62c639af23abd377a6c12dcfaba3abf7ca7a427d3b49e3760833</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25031143$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Panigrahy, Nalinikant</creatorcontrib><creatorcontrib>Poddutoor, Preetham Kumar</creatorcontrib><creatorcontrib>Chirla, Dinesh Kumar</creatorcontrib><title>ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome</title><title>Indian pediatrics</title><addtitle>Indian Pediatr</addtitle><addtitle>Indian Pediatr</addtitle><description>Background
Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
Case characteristics
A late preterm (36 wks) who presented with respiratory distress syndrome.
Observation
He was found to be a homozygous for a G to T transversion at the first base in intron 24, of
ABCA3
gene which is necessary for lamellar body formation and surfactant production.
Outcome
He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
Message
Surfactant deficiency with
ABCA3
gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.</description><subject>ATP-Binding Cassette Transporters - genetics</subject><subject>Case Reports</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Premature</subject><subject>Male</subject><subject>Maternal and Child Health</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation - genetics</subject><subject>Pediatric Surgery</subject><subject>Pediatrics</subject><subject>Pregnancy</subject><subject>Respiratory Distress Syndrome, Newborn</subject><issn>0019-6061</issn><issn>0974-7559</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNp9kE1P3DAQhi3Uit0CP4BL5eNycPFX4s0xXZW2EhIc4GxNHAeMNk7qcVTtv6_RbnvsyWPPM6_GDyHXgn8RnJtbFEoJybjQjOtKM31G1rwxmpmqaj6UmouG1bwWK_IJ8Y1zqWQlzslKVlwJodWahPbpkXUh9iG-UAeIPmdPc4KI85SyT7RVdNN-3bXqho5LhhymSEOkQPdQyDn5Ao30d8ivNHmcQ4I8pQPtA-ZyR4qH2Kdp9Jfk4wB79Fen84I833172v1g9w_ff-7ae-aU1pnBdjCVhLKqrlwtXa0aGKSCrlfGQO2E7N0AHZSXwTgwoKXpVacbr0zNt0pdkM0xd07Tr8VjtmNA5_d7iH5a0IpK11IosZUFFUfUpQkx-cHOKYyQDlZw-27YHg3bYti-G7a6zHw-xS_d6Pt_E3-VFkAeASyt-OKTfZuWFMuX_5P6B7Mxhow</recordid><startdate>20140701</startdate><enddate>20140701</enddate><creator>Panigrahy, Nalinikant</creator><creator>Poddutoor, Preetham Kumar</creator><creator>Chirla, Dinesh Kumar</creator><general>Springer India</general><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></search><sort><creationdate>20140701</creationdate><title>ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome</title><author>Panigrahy, Nalinikant ; Poddutoor, Preetham Kumar ; Chirla, Dinesh Kumar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c344t-a8f752a02345c62c639af23abd377a6c12dcfaba3abf7ca7a427d3b49e3760833</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>ATP-Binding Cassette Transporters - genetics</topic><topic>Case Reports</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Premature</topic><topic>Male</topic><topic>Maternal and Child Health</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation - genetics</topic><topic>Pediatric Surgery</topic><topic>Pediatrics</topic><topic>Pregnancy</topic><topic>Respiratory Distress Syndrome, Newborn</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Panigrahy, Nalinikant</creatorcontrib><creatorcontrib>Poddutoor, Preetham Kumar</creatorcontrib><creatorcontrib>Chirla, Dinesh Kumar</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>Indian pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Panigrahy, Nalinikant</au><au>Poddutoor, Preetham Kumar</au><au>Chirla, Dinesh Kumar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome</atitle><jtitle>Indian pediatrics</jtitle><stitle>Indian Pediatr</stitle><addtitle>Indian Pediatr</addtitle><date>2014-07-01</date><risdate>2014</risdate><volume>51</volume><issue>7</issue><spage>579</spage><epage>580</epage><pages>579-580</pages><issn>0019-6061</issn><eissn>0974-7559</eissn><abstract>Background
Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
Case characteristics
A late preterm (36 wks) who presented with respiratory distress syndrome.
Observation
He was found to be a homozygous for a G to T transversion at the first base in intron 24, of
ABCA3
gene which is necessary for lamellar body formation and surfactant production.
Outcome
He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
Message
Surfactant deficiency with
ABCA3
gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.</abstract><cop>India</cop><pub>Springer India</pub><pmid>25031143</pmid><doi>10.1007/s13312-014-0454-4</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0019-6061 |
| ispartof | Indian pediatrics, 2014-07, Vol.51 (7), p.579-580 |
| issn | 0019-6061 0974-7559 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1546213182 |
| source | Springer Nature; Alma/SFX Local Collection |
| subjects | ATP-Binding Cassette Transporters - genetics Case Reports Female Humans Infant, Premature Male Maternal and Child Health Medicine Medicine & Public Health Mutation - genetics Pediatric Surgery Pediatrics Pregnancy Respiratory Distress Syndrome, Newborn |
| title | ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome |
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