Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Tangier Erkrankung

Die Tangier Erkrankung wird autosomal codominant vererbt. Die Mutationen des ABCA1-Gens führen zu einem Transportdefekt aus den cholesterinspeichernden Makrophagen. Laborchemisch finden sich deutlich erniedrigte HDL-Spiegel, die bei homzygotem Auftreten bis zum völligen fehlen führen können. Klinisch maniferstiert sich die Erkrankung mit gelben Tonsillen und einer Hepatosplenomegalie. Die Patienten zeigen zudem eine ausgeprägte Neigung zu kardiovaskulären Erkrankungen und eine periphere Neuropathie ist häufig.

Klinischer Befund

Die Klinik der Erkrankung ist durch die massive Ansammlung von Cholesterinestern in allen makrophagenhaltigen Geweben gekennzeichnet. So verfärben sich die sonst rötlichen Tonsillen orange bis gelblich. In Leber und Milz führen diese Ablagerungen zur Schwellung, Hepatosplenomegalie. In den Gefäßwänden sind sie für eine beschleunigte Arteriosklerose verantwortlich. In den Nervenscheiden sind sie die Ursache für eine periphere Neuropathie, die sowohl die sensiblen wie auch die motorischen Nerven betreffen kann.

Management

Die einzige effektive Möglichkeit die Erkrankung zu beeinflussen besteht über eine lipidarme Diät. Lipidsenker brachten keinen Erfolg.

Gliederung

Erbliche Fettstoffwechselerkrankungen
Dyslipidämie
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
Hepatischer CPT-Mangel Typ 1A
Meerblaue Histiozytenerkrankung
Statin-Intoleranz
Störung der Körperfettverteilung
Störungen der mRNA-Editiertfunktion
Tangier Erkrankung
ABCA1
Triglyceridspeicherkrankheit
Vermindete Cholesterinsenkung durch Statine

Referenzen:

1.

Schmitz G et al. (1983) Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-i) with high density lipoproteins.

external link
2.

Pressly TA et al. (1987) Ocular complications of Tangier disease.

external link
3.

Frohlich J et al. (1987) Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease.

external link
4.

Pietrini V et al. (1985) Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature.

external link
5.

Kocen RS et al. (1967) Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities.

external link
6.

Engel WK et al. (1967) Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage.

external link
7.

Lux SE et al. (1972) Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein.

external link
8.

Greten H et al. (1974) Lipoproteins and lipolytic plasma enzymes in a case of tangier disease.

external link
9.

Clifton-Bligh P et al. (1972) Tangier disease. Report of a case and studies of lipid metabolism.

external link
10.

Pollock M et al. (1983) Peripheral neuropathy in Tangier disease.

external link
11.

Young SG et al. (1999) The ABCs of cholesterol efflux.

external link
12.

Schaefer EJ et al. (1981) Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins.

external link
13.

Kay LL et al. (1982) Tangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier).

external link
14.

Suarez BK et al. (1982) Tangier disease: heterozygote detection and linkage analysis.

external link
15.

Zannis VI et al. (1982) Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease.

external link
16.

Schaefer EJ et al. (1980) Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).

external link
17.

Dyck PJ et al. () Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration.

external link
18.

Cheung MC et al. (1993) Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux.

external link
19.

Rust S et al. (1998) Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

external link
20.

Law SW et al. (1985) Tangier disease. The complete mRNA sequence encoding for preproapo-A-I.

external link
21.

Brooks-Wilson A et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

external link
22.

Bodzioch M et al. (1999) The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

external link
23.

Rust S et al. (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

external link
24.

Remaley AT et al. (1999) Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.

external link
25.

Rees A et al. (1984) Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease.

external link
26.

None (1964) THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE).

external link
27.

Ferrans VJ et al. (1975) The pathology of Tangier disease. A light and electron microscopic study.

external link
28.

Utermann G et al. (1975) Plasma lipoprotein abnormalities in a case of primary high-density lipoprotein (HDL) deficiency.

external link
29.

Schippling S et al. (2008) Severe Tangier disease with a novel ABCA1 gene mutation.

external link
30.

Assmann G et al. (1977) The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins.

external link
31.

Assmann G et al. (1977) Isolation and characterization of an abnormal high density lipoprotein in Tangier Diesase.

external link
32.

Brook JG et al. (1977) Tangier disease (alpha-lipoprotein deficiency).

external link
33.

Assmann G et al. (1977) Characterization of high density lipoproteins in patients heterozygous for Tangier disease.

external link
34.

Schaefer EJ et al. (1978) Metabolism of high-density lipoprotein apolipoproteins in Tangier disease.

external link
35.

Schmitz G et al. (1985) Interaction of high density lipoproteins with cholesteryl ester-laden macrophages: biochemical and morphological characterization of cell surface receptor binding, endocytosis and resecretion of high density lipoproteins by macrophages.

external link
36.

Schmitz G et al. (1985) Tangier disease: a disorder of intracellular membrane traffic.

external link
37.

Makrides SC et al. (1988) Sequence and expression of Tangier apoA-I gene.

external link
38.

OMIM.ORG article

Omim 205400 external link
39.

Orphanet article

Orphanet ID 31150 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum