Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
Identifieur interne : 007341 ( Ncbi/Checkpoint ); précédent : 007340; suivant : 007342Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
Auteurs : Sarah F. Pollack [États-Unis] ; Alexandra L. Geffrey [États-Unis] ; Elizabeth A. Thiele [États-Unis] ; Uzma Shah [États-Unis]Source :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2015.
Descripteurs français
- KwdFr :
- Adulte, Femelle, Humains, Jeune adulte, Lymphangiectasie intestinale (génétique), Lymphangiectasie intestinale (traitement médicamenteux), Lymphoedème (génétique), Lymphoedème (traitement médicamenteux), Mutation (génétique), Protéines suppresseurs de tumeurs (génétique), Sclérose tubéreuse du cerveau (génétique), Sirolimus (usage thérapeutique).
- MESH :
- génétique : Lymphangiectasie intestinale, Lymphoedème, Mutation, Protéines suppresseurs de tumeurs, Sclérose tubéreuse du cerveau.
- traitement médicamenteux : Lymphangiectasie intestinale, Lymphoedème.
- usage thérapeutique : Sirolimus.
- Adulte, Femelle, Humains, Jeune adulte.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Tumor Suppressor Proteins.
- chemical , therapeutic use : Sirolimus.
- drug therapy : Lymphangiectasis, Intestinal, Lymphedema.
- genetics : Lymphangiectasis, Intestinal, Lymphedema, Mutation, Tuberous Sclerosis.
- Adult, Female, Humans, Young Adult.
Abstract
Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid. Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems. While the lymphatic system has been implicated in TSC through lymphangioleiomyomatosis (LAM) and lymphedema, this paper reports the first case of PIL in TSC, a female patient with a TSC2 mutation. She developed persistent and significant abdominal distension with chronic diarrhea during her first year of life. Due to lack of treatment options and the involvement of the mTOR pathway in TSC, a trial of an mTOR inhibitor, rapamycin, was initiated. This treatment was highly effective, with improvement in clinical symptoms of PIL as well as abnormal laboratory values including VEGF-C, which was elevated to over seven times the normal upper limit before treatment. This case suggests that PIL is a rare manifestation of TSC, warranting the use of mTOR inhibitors in future studies.
DOI: 10.1002/ajmg.a.37148
PubMed: 25943403
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000F12
- to stream PubMed, to step Curation: 000F12
- to stream PubMed, to step Checkpoint: 000F12
- to stream Ncbi, to step Merge: 007341
- to stream Ncbi, to step Curation: 007341
Links to Exploration step
pubmed:25943403Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).</title>
<author><name sortKey="Pollack, Sarah F" sort="Pollack, Sarah F" uniqKey="Pollack S" first="Sarah F" last="Pollack">Sarah F. Pollack</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Geffrey, Alexandra L" sort="Geffrey, Alexandra L" uniqKey="Geffrey A" first="Alexandra L" last="Geffrey">Alexandra L. Geffrey</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Shah, Uzma" sort="Shah, Uzma" uniqKey="Shah U" first="Uzma" last="Shah">Uzma Shah</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatric Gastroenterology, Hepatology and Nutrition, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Pediatric Gastroenterology, Hepatology and Nutrition, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:25943403</idno>
<idno type="pmid">25943403</idno>
<idno type="doi">10.1002/ajmg.a.37148</idno>
<idno type="wicri:Area/PubMed/Corpus">000F12</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000F12</idno>
<idno type="wicri:Area/PubMed/Curation">000F12</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000F12</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000F12</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000F12</idno>
<idno type="wicri:Area/Ncbi/Merge">007341</idno>
<idno type="wicri:Area/Ncbi/Curation">007341</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">007341</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).</title>
<author><name sortKey="Pollack, Sarah F" sort="Pollack, Sarah F" uniqKey="Pollack S" first="Sarah F" last="Pollack">Sarah F. Pollack</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Geffrey, Alexandra L" sort="Geffrey, Alexandra L" uniqKey="Geffrey A" first="Alexandra L" last="Geffrey">Alexandra L. Geffrey</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Shah, Uzma" sort="Shah, Uzma" uniqKey="Shah U" first="Uzma" last="Shah">Uzma Shah</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatric Gastroenterology, Hepatology and Nutrition, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Pediatric Gastroenterology, Hepatology and Nutrition, Massachusetts General Hospital, Boston</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of medical genetics. Part A</title>
<idno type="eISSN">1552-4833</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Lymphangiectasis, Intestinal (drug therapy)</term>
<term>Lymphangiectasis, Intestinal (genetics)</term>
<term>Lymphedema (drug therapy)</term>
<term>Lymphedema (genetics)</term>
<term>Mutation (genetics)</term>
<term>Sirolimus (therapeutic use)</term>
<term>Tuberous Sclerosis (genetics)</term>
<term>Tumor Suppressor Proteins (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Lymphangiectasie intestinale (génétique)</term>
<term>Lymphangiectasie intestinale (traitement médicamenteux)</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (traitement médicamenteux)</term>
<term>Mutation (génétique)</term>
<term>Protéines suppresseurs de tumeurs (génétique)</term>
<term>Sclérose tubéreuse du cerveau (génétique)</term>
<term>Sirolimus (usage thérapeutique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Sirolimus</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
<term>Mutation</term>
<term>Tuberous Sclerosis</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Mutation</term>
<term>Protéines suppresseurs de tumeurs</term>
<term>Sclérose tubéreuse du cerveau</term>
</keywords>
<keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Sirolimus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jeune adulte</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid. Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems. While the lymphatic system has been implicated in TSC through lymphangioleiomyomatosis (LAM) and lymphedema, this paper reports the first case of PIL in TSC, a female patient with a TSC2 mutation. She developed persistent and significant abdominal distension with chronic diarrhea during her first year of life. Due to lack of treatment options and the involvement of the mTOR pathway in TSC, a trial of an mTOR inhibitor, rapamycin, was initiated. This treatment was highly effective, with improvement in clinical symptoms of PIL as well as abnormal laboratory values including VEGF-C, which was elevated to over seven times the normal upper limit before treatment. This case suggests that PIL is a rare manifestation of TSC, warranting the use of mTOR inhibitors in future studies.</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Massachusetts</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Pollack, Sarah F" sort="Pollack, Sarah F" uniqKey="Pollack S" first="Sarah F" last="Pollack">Sarah F. Pollack</name>
</region>
<name sortKey="Geffrey, Alexandra L" sort="Geffrey, Alexandra L" uniqKey="Geffrey A" first="Alexandra L" last="Geffrey">Alexandra L. Geffrey</name>
<name sortKey="Shah, Uzma" sort="Shah, Uzma" uniqKey="Shah U" first="Uzma" last="Shah">Uzma Shah</name>
<name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007341 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 007341 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Checkpoint |type= RBID |clé= pubmed:25943403 |texte= Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC). }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:25943403" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |