Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.
Identifieur interne : 00FD02 ( Main/Exploration ); précédent : 00FD01; suivant : 00FD03Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.
Auteurs : F. Gemignani ; V. Pietrini ; F. Tagliavini ; A. Lechi ; T M Neri ; A. Asinari ; M. SaviSource :
- European neurology [ 0014-3022 ] ; 1979.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Cerebroside-sulfatase (génétique), Femelle, Galactosidases (génétique), Glucosidases (génétique), Hexosaminidases (génétique), Humains, Jambe, Lymphoedème (anatomopathologie), Lymphoedème (enzymologie), Lymphoedème (génétique), Maladie de Fabry (anatomopathologie), Maladie de Fabry (enzymologie), Maladie de Fabry (génétique), Mâle, Peau (anatomopathologie), Pedigree, Rein (anatomopathologie).
- MESH :
- anatomopathologie : Lymphoedème, Maladie de Fabry, Peau, Rein.
- enzymologie : Lymphoedème, Maladie de Fabry.
- génétique : Cerebroside-sulfatase, Galactosidases, Glucosidases, Hexosaminidases, Lymphoedème, Maladie de Fabry.
- Adulte d'âge moyen, Femelle, Humains, Jambe, Mâle, Pedigree.
English descriptors
- KwdEn :
- Cerebroside-Sulfatase (genetics), Fabry Disease (enzymology), Fabry Disease (genetics), Fabry Disease (pathology), Female, Galactosidases (genetics), Glucosidases (genetics), Hexosaminidases (genetics), Humans, Kidney (pathology), Leg, Lymphedema (enzymology), Lymphedema (genetics), Lymphedema (pathology), Male, Middle Aged, Pedigree, Skin (pathology).
- MESH :
- chemical , genetics : Cerebroside-Sulfatase, Galactosidases, Glucosidases, Hexosaminidases.
- enzymology : Fabry Disease, Lymphedema.
- genetics : Fabry Disease, Lymphedema.
- pathology : Fabry Disease, Kidney, Lymphedema, Skin.
- Female, Humans, Leg, Male, Middle Aged, Pedigree.
Abstract
The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.
PubMed: 37087
Affiliations:
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Case report and family study.</title><author><name sortKey="Gemignani, F" sort="Gemignani, F" uniqKey="Gemignani F" first="F" last="Gemignani">F. Gemignani</name></author><author><name sortKey="Pietrini, V" sort="Pietrini, V" uniqKey="Pietrini V" first="V" last="Pietrini">V. Pietrini</name></author><author><name sortKey="Tagliavini, F" sort="Tagliavini, F" uniqKey="Tagliavini F" first="F" last="Tagliavini">F. Tagliavini</name></author><author><name sortKey="Lechi, A" sort="Lechi, A" uniqKey="Lechi A" first="A" last="Lechi">A. Lechi</name></author><author><name sortKey="Neri, T M" sort="Neri, T M" uniqKey="Neri T" first="T M" last="Neri">T M Neri</name></author><author><name sortKey="Asinari, A" sort="Asinari, A" uniqKey="Asinari A" first="A" last="Asinari">A. Asinari</name></author><author><name sortKey="Savi, M" sort="Savi, M" uniqKey="Savi M" first="M" last="Savi">M. Savi</name></author></analytic><series><title level="j">European neurology</title><idno type="ISSN">0014-3022</idno><imprint><date when="1979" type="published">1979</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cerebroside-Sulfatase (genetics)</term><term>Fabry Disease (enzymology)</term><term>Fabry Disease (genetics)</term><term>Fabry Disease (pathology)</term><term>Female</term><term>Galactosidases (genetics)</term><term>Glucosidases (genetics)</term><term>Hexosaminidases (genetics)</term><term>Humans</term><term>Kidney (pathology)</term><term>Leg</term><term>Lymphedema (enzymology)</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Skin (pathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Cerebroside-sulfatase (génétique)</term><term>Femelle</term><term>Galactosidases (génétique)</term><term>Glucosidases (génétique)</term><term>Hexosaminidases (génétique)</term><term>Humains</term><term>Jambe</term><term>Lymphoedème (anatomopathologie)</term><term>Lymphoedème (enzymologie)</term><term>Lymphoedème (génétique)</term><term>Maladie de Fabry (anatomopathologie)</term><term>Maladie de Fabry (enzymologie)</term><term>Maladie de Fabry (génétique)</term><term>Mâle</term><term>Peau (anatomopathologie)</term><term>Pedigree</term><term>Rein (anatomopathologie)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cerebroside-Sulfatase</term><term>Galactosidases</term><term>Glucosidases</term><term>Hexosaminidases</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term><term>Maladie de Fabry</term><term>Peau</term><term>Rein</term></keywords><keywords scheme="MESH" qualifier="enzymologie" xml:lang="fr"><term>Lymphoedème</term><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Fabry Disease</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fabry Disease</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cerebroside-sulfatase</term><term>Galactosidases</term><term>Glucosidases</term><term>Hexosaminidases</term><term>Lymphoedème</term><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Fabry Disease</term><term>Kidney</term><term>Lymphedema</term><term>Skin</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Leg</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Femelle</term><term>Humains</term><term>Jambe</term><term>Mâle</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.</div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Asinari, A" sort="Asinari, A" uniqKey="Asinari A" first="A" last="Asinari">A. Asinari</name><name sortKey="Gemignani, F" sort="Gemignani, F" uniqKey="Gemignani F" first="F" last="Gemignani">F. Gemignani</name><name sortKey="Lechi, A" sort="Lechi, A" uniqKey="Lechi A" first="A" last="Lechi">A. Lechi</name><name sortKey="Neri, T M" sort="Neri, T M" uniqKey="Neri T" first="T M" last="Neri">T M Neri</name><name sortKey="Pietrini, V" sort="Pietrini, V" uniqKey="Pietrini V" first="V" last="Pietrini">V. Pietrini</name><name sortKey="Savi, M" sort="Savi, M" uniqKey="Savi M" first="M" last="Savi">M. Savi</name><name sortKey="Tagliavini, F" sort="Tagliavini, F" uniqKey="Tagliavini F" first="F" last="Tagliavini">F. Tagliavini</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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