Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche Pankreaserkrankungen

Die erbliche Pankreatitis ist eine autosomal recessive oder dominante Erkrankung, die durch Mutationen der Gene PRSS1 und SPINK1 hervorgerufen wird.

Gliederung

Genetisch bedingte Erkrankungen
Erbliche Augenerkrankungen und Sehstörungen
Erbliche Blutkrankheiten und Gerinnungsstörungen
Erbliche Bronchial- und Lungenerkrankungen
Erbliche Gefäßerkrankungen
Erbliche Infektionsanfälligkeiten
Erbliche Knochenerkrankungen
Erbliche Lebererkrankungen
Erbliche Nervenerkrankungen
Erbliche Nierenerkrankungen
Erbliche Pankreaserkrankungen
PRSS1
SPINK1
Erbliche Stoffwechselerkrankungen
Erbliche endokrinologische Erkrankungen
Erbliche immunologische Erkrankungen
Erblicher Bluthochdruck
Hereditäre Herzerkrankungen

Referenzen:

1.

Chen JM et. al. (2000) Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

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2.

Witt H et. al. (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

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3.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

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4.

Király O et. al. (2007) Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

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5.

None (1967) Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general?

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6.

Rowen L et. al. (1996) The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.

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7.

Whitcomb DC et. al. (1996) Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

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8.

Gorry MC et. al. (1997) Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

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9.

Férec C et. al. (1999) Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

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10.

None (1978) Hereditary pancreatitis in England and Wales.

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11.

Schlesinger DH et. al. (1977) Complete covalent structure of statherin, a tyrosine-rich acidic peptide which inhibits calcium phosphate precipitation from human parotid saliva.

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12.

Freeman HJ et. al. (1976) Alpha1-antitrypsin deficiency and pancreatic fibrosis.

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13.

Riccardi VM et. al. (1975) Hereditary pancreatitis. Nonspecificity of aminoaciduria and diagnosis of occult disease.

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14.

Freud E et. al. (1992) Familial chronic recurrent pancreatitis in identical twins. Case report and review of the literature.

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15.

Steer ML et. al. (1987) The cell biology of experimental pancreatitis.

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16.

Dalton-Clarke HJ et. al. (1985) Familial chronic calcific pancreatitis: a family study.

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17.

Kattwinkel J et. al. (1973) Hereditary pancreatitis: three new kindreds and a critical review of the literature.

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18.

None (1973) Hereditary pancreatitis in a Newcastle family.

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19.

None (1974) Hereditary pancreatitis. Review and presentation of an additional kindred.

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20.

Sato T et. al. (1974) Familial chronic pancreatitis associated with pancreatic lithiasis.

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21.

McElroy R et. al. (1972) Hereditary pancreatitis in a kinship associated with portal vein thrombosis.

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22.

Davidson P et. al. (1968) Hereditary pancreatitis. A kindred without gross aminoaciduria.

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23.

Carey MC et. al. (1968) Hyperparathyroidism associated with chronic pancreatitis in a family.

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24.

Mann TP et. al. (1969) Familial pancreatic exocrine dysfunction with pancreatic calcification.

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25.

Sarles H et. al. (1982) Giant pancreatic stones in teetotal women due to absence of the "stone protein"?

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26.

Girard RM et. al. (1980) Hereditary chronic pancreatitis.

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27.

Rümenapf G et. al. (1994) Surgical management of hereditary pancreatitis: report of a case and presentation of a new family.

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28.

Lewis MP et. al. (1993) Hereditary calcific pancreatitis in an English family.

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29.

Sarles H et. al. (1996) Two forms of hereditary chronic pancreatitis.

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30.

None (1996) It takes a family.

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31.

Le Bodic L et. al. (1996) The hereditary pancreatitis gene maps to long arm of chromosome 7.

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32.

Pandya A et. al. (1996) Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q.

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33.

Whitcomb DC et. al. (1996) A gene for hereditary pancreatitis maps to chromosome 7q35.

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34.

Lowenfels AB et. al. (1997) Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group.

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35.

Dasouki MJ et. al. (1998) Heterogeneity in hereditary pancreatitis.

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36.

Sharer N et al. (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

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37.

Cohn JA et al. (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

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38.

GROSS JB et. al. (1962) Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features.

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39.

GROSS JB et. al. (1964) URINARY EXCRETION OF AMINO ACIDS IN A KINDRED WITH HEREDITARY PANCREATITIS AND AMINOACIDURIA.

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40.

COMFORT MW et. al. (1952) Pedigree of a family with hereditary chronic relapsing pancreatitis.

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41.

Tzetis M et. al. (2007) Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.

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42.

Chang MC et al. (2007) Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.

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43.

Rosendahl J et. al. (2008) Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

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44.

Masson E et. al. (2008) Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

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