Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Caroli Erkrankung

Die angeborene zystische Dilatation der intrahepatischen Gallenwege wird als Caroli-Syndrom bezeichnet. Ätiologisch kommen neben PKHD1-Mutationen (autosomal dominant) sicher auch andere bisher noch nicht ausreichend charakterisierte Gene in Betracht.

Gliederung

Erbliche Lebererkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Caroli Erkrankung
PKHD1
Genetisch bedingte Hyperbilirubinämie
Hämochromatose
Ivemark-Syndrom
Morbus Fabry
Polyzystische Lebererkrankung

Referenzen:

1.

Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

[^]
2.

Boichis H et. al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

[^]
3.

Liu S et al. (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.

[^]
4.

Zerres K et al. (1984) Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

[^]
5.

Gupta GK et al. (2000) Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child.

[^]
6.

Coffman TM et al. (2002) Another cystic mystery solved.

[^]
7.

Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America.

[^]
8.

Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.

[^]
9.

Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

[^]
10.

Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

[^]
11.

Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

[^]
12.

Upadhya P et al. (1999) Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants.

[^]
13.

Guay-Woodford LM et al. (2000) Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated.

[^]
14.

Omran H et al. (2001) Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.

[^]
15.

CAROLI J et al. (1958) [Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification].

[^]
16.

LUNDIN PM et al. (1961) Polycystic kidneys in newborns, infants and children. A clinical and pathological study.

[^]
17.

Bukanov NO et al. (2006) Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

[^]
18.

Davisson MT et al. (1991) The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12.

[^]
19.

Martínez-Frías ML et al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.

[^]
20.

Kaplan BS et al. (1989) Autosomal recessive polycystic kidney disease.

[^]
21.

Ramsay M et al. (1988) Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic.

[^]
22.

Zerres K et al. (1988) Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.

[^]
23.

Kaplan BS et al. (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

[^]
24.

Wirth B et al. (1987) Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.

[^]
25.

Cowley BD et al. (1987) Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease.

[^]
26.

Kääriäinen H et al. (1987) Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

[^]
27.

Luthy DA et al. (1985) Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis.

[^]
28.

Gang DL et al. (1986) Infantile polycystic disease of the liver and kidneys.

[^]
29.

Adams CM et al. (1974) Comments upon the classification of infantile polycystic diseases of the liver and kidney, based upon three-dimensional reconstruction of the liver.

[^]
30.

Isdale JM et al. (1973) Infantile polycystic disease of the kidneys.

[^]
31.

Blyth H et al. (1971) Polycystic disease of kidney and liver presenting in childhood.

[^]
32.

Turnberg LA et al. (1968) Biliary secretion in a patient with cystic dilation of the intrahepatic biliary tree.

[^]
33.

Blyth HM et al. (1969) A clinico-pathological and family study of polycystic disease of the kidneys and liver in children.

[^]
34.

Hunter FM et al. (1966) Congenital dilation of the intrahepatic bile ducts.

[^]
35.

Mandell J et al. (1983) Congenital polycystic kidney disease. Genetically transmitted infantile polycystic kidney disease in C57BL/6J mice.

[^]
36.

Schmidt W et al. (1982) Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.

[^]
37.

Naveh Y et al. (1980) Congenital hepatic fibrosis with congenital heart disease. A family study with ultrastructural features of the liver.

[^]
38.

Deget F et al. (1995) Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

[^]
39.

Guay-Woodford LM et al. (1995) The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

[^]
40.

Iakoubova OA et al. (1995) Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity.

[^]
41.

Zerres K et al. (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

[^]
42.

Mücher G et al. (1994) Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12.

[^]
43.

Simon EA et al. (1994) The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2.

[^]
44.

Nakamura T et al. (1993) Growth factor gene expression in kidney of murine polycystic kidney disease.

[^]
45.

Ros E et al. (1993) Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome.

[^]
46.

Moyer JH et al. (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

[^]
47.

Atala A et al. (1993) Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys.

[^]
48.

Gattone VH et al. (1996) Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene.

[^]
49.

Nagao S et al. (1995) Genetic mapping of the polycystic kidney gene, pcy, on mouse chromosome 9.

[^]
50.

Janaswami PM et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.

[^]
51.

Woo DD et al. (1997) Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.

[^]
52.

Richards WG et al. (1998) Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease.

[^]