SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Zentrum für angeborene und cholestatische Lebererkrankungen am Universitätsklinikum Düsseldorf

Description of facility

Director / Spokesperson
Prof. Dr. med. T. Lüdde, Dr. med. N. Qvartskhava
Information
Care facility for adults and children
Description
Seit 2006 verfügt die Klinik für Gastroenterologie, Hepatologie und Infektiologie über eine Spezialdiagnostik für cholestatische und genetisch-bedingte, angeborene Lebererkrankungen (Cholestase-Labor).

Die Untersuchungen werden eingesetzt, wenn angeborene/genetische Faktoren als Ursachen einer Lebererkrankung in Betracht gezogen werden.

Das Leistungsspektrum umfasst:
- Analyse der kodierenden Exons und der angrenzenden Exon/Intron Bereiche verschiedener Cholestase-relevanter Gene mittels Sanger Sequenzierung oder Next Generation Sequencing (NGS) Chip-Analyse
- Analyse Krankheits-relevanter häufiger genetischer Varianten (sog. Polymorphismen)
- Detektion von Transportproteinen, die für die Gallebildung notwendig sind, in Leberzellen aus Leberbiopsaten mittels Immunfluoreszenzfärbung
- Untersuchung auf BSEP-reaktive Antikörper aus Patientenserum zum Nachweis der Antikörper-induzierte BSEP Defizienz (AIBD)

Care provisions

This facility offers the following
  • Genetic counselling
  • Diagnostic
  • Therapy

Contact

Prof. Dr. med. T. Lüdde, Dr. med. N. Qvartskhava
0211 8117849
0211 8104847
cholestase@med.uni-duesseldorf.de
Website https://www.uniklinik-duesseldorf.de/patienten-besucher/klinikeninstitutezentren/zentrum-fuer-seltene-erkrankungen/behandlungszentren/zentrum-fuer-angeborene-lebererkrankungen

Address

Moorenstraße 5
40225 Düsseldorf

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Languages

Germany.png Deutsch
United_Kingdom.png Englisch

Preview of the assigned diseases 8

Dietary iron overload disease Isolated biliary atresia Glycogen storage disease due to liver phosphorylase kinase deficiency Caroli disease Hepatic fibrosis-renal cysts-intellectual disability syndrome Inflammatory pseudotumor of the liver Galactose epimerase deficiency Transient familial neonatal hyperbilirubinemia Congenital respiratory-biliary fistula Budd-Chiari syndrome Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Classic galactosemia Sclerosing cholangitis Rare hepatic disease Familial intrahepatic cholestasis Biliary atresia with splenic malformation syndrome Fulminant viral hepatitis Idiopathic copper-associated cirrhosis Hepatic veno-occlusive disease-immunodeficiency syndrome Rare tumor of gallbladder and extrahepatic biliary tract Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Isolated agenesis of gallbladder Rare tumor of liver and intrahepatic biliary tract Primitive portal vein thrombosis Neonatal hemochromatosis Fever-associated acute infantile liver failure syndrome Cystic fibrosis Congenital disorder of glycosylation with hepatic involvement Fanconi-Bickel syndrome Acute liver failure CADDS Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Acute fatty liver of pregnancy Syndromic diarrhea Primary biliary cholangitis Cholestasis-lymphedema syndrome Alagille syndrome Rare vascular liver disease Acute infantile liver failure-multisystemic involvement syndrome Growth retardation-mild developmental delay-chronic hepatitis syndrome Hepatitis delta Rare biliary tract disease Rare metabolic liver disease Rare parenchymal liver disease Rare hepatic and biliary tract tumor Steroid dehydrogenase deficiency-dental anomalies syndrome Isolated polycystic liver disease Alpha-1-antitrypsin deficiency Hereditary fructose intolerance Ferro-cerebro-cutaneous syndrome Familial hypercholanemia Tyrosinemia type 1 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Crigler-Najjar syndrome Hyperbiliverdinemia Hepatic veno-occlusive disease Rare hereditary hemochromatosis Peroxisome biogenesis disorder Cirrhotic cardiomyopathy Follicular cholangitis and pancreatitis Wilson disease Autoimmune hepatitis Nodular regenerative hyperplasia of the liver Glycogen storage disease due to glucose-6-phosphatase deficiency Hereditary hemorrhagic telangiectasia Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Hepatoportal sclerosis Glycogen storage disease due to liver glycogen phosphorylase deficiency Reynolds syndrome Dubin-Johnson syndrome FTH1-related iron overload Transient infantile hypertriglyceridemia and hepatosteatosis Low phospholipid-associated cholelithiasis Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Intrahepatic cholestasis of pregnancy Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Neonatal ichthyosis-sclerosing cholangitis syndrome Rotor syndrome Benign recurrent intrahepatic cholestasis type 1 Hereditary North American Indian childhood cirrhosis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 5 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 4 MYO5B-related progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2
6.78922158484360351.19614247619108Zentrum für angeborene und cholestatische Lebererkrankungen am Universitätsklinikum Düsseldorf
Last updated: 12.03.2024