Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation
Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resu...
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| Veröffentlicht in: | Indian journal of pediatrics 2013-06, Vol.80 (6), p.502-504 |
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| container_title | Indian journal of pediatrics |
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| creator | Eminoglu, Tuba Fatma Polat, Emine Gökçe, Selim Ezgü, Fatih Süheyl Senel, Saliha Apaydin, Sema |
| description | Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in
CFTR
gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver. |
| doi_str_mv | 10.1007/s12098-012-0842-5 |
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CFTR
gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver.</description><identifier>ISSN: 0019-5456</identifier><identifier>EISSN: 0973-7693</identifier><identifier>DOI: 10.1007/s12098-012-0842-5</identifier><identifier>PMID: 22798282</identifier><identifier>CODEN: IJPEA2</identifier><language>eng</language><publisher>India: Springer-Verlag</publisher><subject>Base Sequence ; Biliary Atresia - diagnosis ; Biliary Atresia - genetics ; Biological and medical sciences ; Cholestasis - diagnosis ; Cholestasis - genetics ; Clinical Brief ; Codon, Nonsense ; Cystic Fibrosis - diagnosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Diagnosis, Differential ; Errors of metabolism ; Gastroenterology. Liver. Pancreas. Abdomen ; General aspects ; Gynecology ; Humans ; Infant ; Liver - pathology ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Molecular Sequence Data ; Other diseases. Semiology ; Pediatrics ; Polymerase Chain Reaction</subject><ispartof>Indian journal of pediatrics, 2013-06, Vol.80 (6), p.502-504</ispartof><rights>Dr. K C Chaudhuri Foundation 2012</rights><rights>2014 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c374t-d2ecde44fda14409277fedf123d330a8bb81f93f66db5e4c61f2a41c5ebf1bf93</citedby><cites>FETCH-LOGICAL-c374t-d2ecde44fda14409277fedf123d330a8bb81f93f66db5e4c61f2a41c5ebf1bf93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12098-012-0842-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12098-012-0842-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,778,782,27911,27912,41475,42544,51306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=27592156$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22798282$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Eminoglu, Tuba Fatma</creatorcontrib><creatorcontrib>Polat, Emine</creatorcontrib><creatorcontrib>Gökçe, Selim</creatorcontrib><creatorcontrib>Ezgü, Fatih Süheyl</creatorcontrib><creatorcontrib>Senel, Saliha</creatorcontrib><creatorcontrib>Apaydin, Sema</creatorcontrib><title>Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation</title><title>Indian journal of pediatrics</title><addtitle>Indian J Pediatr</addtitle><addtitle>Indian J Pediatr</addtitle><description>Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in
CFTR
gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver.</description><subject>Base Sequence</subject><subject>Biliary Atresia - diagnosis</subject><subject>Biliary Atresia - genetics</subject><subject>Biological and medical sciences</subject><subject>Cholestasis - diagnosis</subject><subject>Cholestasis - genetics</subject><subject>Clinical Brief</subject><subject>Codon, Nonsense</subject><subject>Cystic Fibrosis - diagnosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Diagnosis, Differential</subject><subject>Errors of metabolism</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>General aspects</subject><subject>Gynecology</subject><subject>Humans</subject><subject>Infant</subject><subject>Liver - pathology</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Molecular Sequence Data</subject><subject>Other diseases. Semiology</subject><subject>Pediatrics</subject><subject>Polymerase Chain Reaction</subject><issn>0019-5456</issn><issn>0973-7693</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1PHCEch4lp41v7AbwYLk28TOV1GI7rRm0T3W5SeyYMAyuGZVaYabPfvqyz6s0ThN_z_wEPAGcYfccIicuMCZJNhTCpUMNIxQ_AMZKCVqKW9FPZIywrznh9BE5yfkKISFTLQ3BEiJANacgxSPNtHryBN75NffYZLpPNNg4-ruA_PzzChe2jHnSA88c-2DzoHfTbr8egX6ArH7xOWzgbyqDX0Eeo4bJkpWRq0HDR_7UB3o9DOe7jF_DZ6ZDt1_16Cv7cXD_Mf1R3v25_zmd3laGCDVVHrOksY67TmDEkiRDOdg4T2lGKdNO2DXaSurruWm6ZqbEjmmHDbetwW5JTcDH1blL_PJanq7XPxoago-3HrDDlgsmGclRQPKGmSMjJOrVJfl2-pTBSO9VqUq2KarVTrXiZOd_Xj-3adm8Tr24L8G0P6Gx0cElH4_M7J7gkmNeFIxOXSxRXNqmnfkyxqPng9v9x7ZhL</recordid><startdate>20130601</startdate><enddate>20130601</enddate><creator>Eminoglu, Tuba Fatma</creator><creator>Polat, Emine</creator><creator>Gökçe, Selim</creator><creator>Ezgü, Fatih Süheyl</creator><creator>Senel, Saliha</creator><creator>Apaydin, Sema</creator><general>Springer-Verlag</general><general>Springer</general><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>7X8</scope></search><sort><creationdate>20130601</creationdate><title>Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation</title><author>Eminoglu, Tuba Fatma ; Polat, Emine ; Gökçe, Selim ; Ezgü, Fatih Süheyl ; Senel, Saliha ; Apaydin, Sema</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c374t-d2ecde44fda14409277fedf123d330a8bb81f93f66db5e4c61f2a41c5ebf1bf93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Base Sequence</topic><topic>Biliary Atresia - diagnosis</topic><topic>Biliary Atresia - genetics</topic><topic>Biological and medical sciences</topic><topic>Cholestasis - diagnosis</topic><topic>Cholestasis - genetics</topic><topic>Clinical Brief</topic><topic>Codon, Nonsense</topic><topic>Cystic Fibrosis - diagnosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Diagnosis, Differential</topic><topic>Errors of metabolism</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>General aspects</topic><topic>Gynecology</topic><topic>Humans</topic><topic>Infant</topic><topic>Liver - pathology</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Molecular Sequence Data</topic><topic>Other diseases. 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Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in
CFTR
gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver.</abstract><cop>India</cop><pub>Springer-Verlag</pub><pmid>22798282</pmid><doi>10.1007/s12098-012-0842-5</doi><tpages>3</tpages></addata></record> |
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| subjects | Base Sequence Biliary Atresia - diagnosis Biliary Atresia - genetics Biological and medical sciences Cholestasis - diagnosis Cholestasis - genetics Clinical Brief Codon, Nonsense Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Diagnosis, Differential Errors of metabolism Gastroenterology. Liver. Pancreas. Abdomen General aspects Gynecology Humans Infant Liver - pathology Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Medicine Medicine & Public Health Metabolic diseases Miscellaneous hereditary metabolic disorders Molecular Sequence Data Other diseases. Semiology Pediatrics Polymerase Chain Reaction |
| title | Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation |
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