A father and son with cholestasis and peripheral pulmonic stenosis
Identifieur interne : 005996 ( Istex/Corpus ); précédent : 005995; suivant : 005997A father and son with cholestasis and peripheral pulmonic stenosis
Auteurs : Caroline A. Riely ; Douglas R. Labrecque ; Cameron Ghent ; Arthur Horwich ; Gerald KlatskinSource :
- The Journal of Pediatrics [ 0022-3476 ] ; 1978.
Abstract
We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.
Url:
DOI: 10.1016/S0022-3476(78)80428-4
Links to Exploration step
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</ce:cross-ref>
<ce:cross-ref refid="fn2"><ce:sup>**</ce:sup>
</ce:cross-ref>
</ce:author>
<ce:author><ce:degrees>M.D.</ce:degrees>
<ce:given-name>Arthur</ce:given-name>
<ce:surname>Horwich</ce:surname>
<ce:cross-ref refid="aff1"><ce:sup>a</ce:sup>
</ce:cross-ref>
<ce:cross-ref refid="aff2"><ce:sup>b</ce:sup>
</ce:cross-ref>
</ce:author>
<ce:author><ce:degrees>M.D.</ce:degrees>
<ce:given-name>Gerald</ce:given-name>
<ce:surname>Klatskin</ce:surname>
<ce:cross-ref refid="aff1"><ce:sup>a</ce:sup>
</ce:cross-ref>
<ce:cross-ref refid="aff2"><ce:sup>b</ce:sup>
</ce:cross-ref>
</ce:author>
<ce:affiliation id="aff1"><ce:label>a</ce:label>
<ce:textfn>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</ce:textfn>
</ce:affiliation>
<ce:affiliation id="aff2"><ce:label>b</ce:label>
<ce:textfn>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</ce:textfn>
</ce:affiliation>
<ce:correspondence id="cor1"><ce:label>***</ce:label>
<ce:text>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</ce:text>
</ce:correspondence>
<ce:footnote id="fn1"><ce:label>*</ce:label>
<ce:note-para>Teaching and Research Scholar of the American College of Physicians.</ce:note-para>
</ce:footnote>
<ce:footnote id="fn2"><ce:label>**</ce:label>
<ce:note-para>Supported by The R. Samuel McLaughlin Foundation.</ce:note-para>
</ce:footnote>
</ce:author-group>
<ce:abstract id="ab1" class="author" xml:lang="en"><ce:abstract-sec><ce:simple-para>We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</ce:simple-para>
</ce:abstract-sec>
</ce:abstract>
</head>
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<mods version="3.6"><titleInfo lang="en"><title>A father and son with cholestasis and peripheral pulmonic stenosis</title>
<subTitle>A distinct form of intrahepatic cholestasis</subTitle>
</titleInfo>
<titleInfo type="alternative" lang="en" contentType="CDATA"><title>A father and son with cholestasis and peripheral pulmonic stenosis</title>
<subTitle>A distinct form of intrahepatic cholestasis</subTitle>
</titleInfo>
<name type="personal"><namePart type="given">Caroline A.</namePart>
<namePart type="family">Riely</namePart>
<namePart type="termsOfAddress">M.D.</namePart>
<affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>Reprint address: Caroline A. Riely, M.D., Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06510.</affiliation>
<affiliation>*Teaching and Research Scholar of the American College of Physicians.</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Douglas R.</namePart>
<namePart type="family">LaBrecque</namePart>
<namePart type="termsOfAddress">M.D.</namePart>
<affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Cameron</namePart>
<namePart type="family">Ghent</namePart>
<namePart type="termsOfAddress">M.D.</namePart>
<affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>**Supported by The R. Samuel McLaughlin Foundation.</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Arthur</namePart>
<namePart type="family">Horwich</namePart>
<namePart type="termsOfAddress">M.D.</namePart>
<affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Gerald</namePart>
<namePart type="family">Klatskin</namePart>
<namePart type="termsOfAddress">M.D.</namePart>
<affiliation>Liver Study Unit, Department of Internal Medicine, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
<affiliation>Department of Pediatrics, Yale University School of Medicine, New Haven, Conn. USA</affiliation>
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<copyrightDate encoding="w3cdtf">1978</copyrightDate>
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<abstract lang="en">We report a father and son with the syndrome of cholestasis and peripheral pulmonic stenosis. These cases demonstrate the clinical and biochemical features noted in previous reports of this entity and allow us to differentiate clearly this syndrome, with its benign course, from other more progressive forms of intrahepatic cholestasis. The vertical transmission supports a genetic etiology for this disease. Although serum bile acid levels are elevated in these patients, the individual bile acids do not display a distinctive pattern and no abnormal bile acids are identified.</abstract>
<note>Clinical studies were performed in the Yale Children's and Adult Clinical Research Centers, supported by Grant RR-125, GCRC Branch, Division of Research Resources, National Institutes of Health, Bethesda, MD.</note>
<note>Supported in part by United States Public Health Service Grant AM 05180-17.</note>
<note type="content">Section title: Original article</note>
<relatedItem type="host"><titleInfo><title>The Journal of Pediatrics</title>
</titleInfo>
<titleInfo type="abbreviated"><title>YMPD</title>
</titleInfo>
<genre type="journal">journal</genre>
<originInfo><dateIssued encoding="w3cdtf">197803</dateIssued>
</originInfo>
<identifier type="ISSN">0022-3476</identifier>
<identifier type="PII">S0022-3476(78)X8417-4</identifier>
<part><date>197803</date>
<detail type="volume"><number>92</number>
<caption>vol.</caption>
</detail>
<detail type="issue"><number>3</number>
<caption>no.</caption>
</detail>
<extent unit="issue pages"><start>1A</start>
<end>48A</end>
</extent>
<extent unit="issue pages"><start>347</start>
<end>522</end>
</extent>
<extent unit="issue pages"><start>49A</start>
<end>114A</end>
</extent>
<extent unit="pages"><start>406</start>
<end>411</end>
</extent>
</part>
</relatedItem>
<identifier type="istex">BF5FDF593FEC4ACD25590B68F2BC7076609080A2</identifier>
<identifier type="DOI">10.1016/S0022-3476(78)80428-4</identifier>
<identifier type="PII">S0022-3476(78)80428-4</identifier>
<identifier type="ArticleID">78804284</identifier>
<accessCondition type="use and reproduction" contentType="copyright">©1978 The C. V. Mosby Company</accessCondition>
<recordInfo><recordContentSource>ELSEVIER</recordContentSource>
<recordOrigin>The C. V. Mosby Company, ©1978</recordOrigin>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>
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