Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
Identifieur interne : 001958 ( Main/Exploration ); précédent : 001957; suivant : 001959Primary 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:
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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. 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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)
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