Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Polyzystische Nierenerkrankung 1

Die polyzystische Nierenerkrankung 1 ist eine autosomal dominante polyzystische Nierendegeneration, die durch Mutationen im PKD1-Gen ausgelöst wird.

Epidemiologie

Die Schätzungen für die Prävalenz der Erkrankungen liegen zwischen 1:500 bis 1:2000.

Gliederung

Autosomal dominante polyzystische Nierenerkrankung
Polyzystische Nierenerkrankung 1
PKD1
Polyzystische Nierenerkrankung 2
Polyzystische Nierenerkrankung 3

Referenzen:

1.

Grantham JJ et al. (2012) Bully renal cysts knock down urine-concentrating capacity in the early rounds.

[^]
2.

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

[^]
3.

Wu G et al. (2000) Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

[^]
4.

McConnell RS et al. (2001) Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.

[^]
5.

Stickler GB et al. (1975) Polycystic kidney disease: recognition of the "adult form" (autosomal dominant) in infancy.

[^]
6.

Nauli SM et al. (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.

[^]
7.

Lin F et al. (2003) Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease.

[^]
8.

Rossetti S et al. (2003) Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

[^]
9.

Reeders ST et al. (1992) Multilocus polycystic disease.

[^]
10.

Somlo S et al. (1992) Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.

[^]
11.

Himmelbauer H et al. (1992) Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).

[^]
12.

DITLEFSEN EM et al. (1960) Intracranial aneurysms and polycystic kidneys.

[^]
13.

OSATHANONDH V et al. (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY.

[^]
14.

Hannig VL et al. (1992) Utilization and evaluation of living-related donors for patients with adult polycystic kidney disease.

[^]
15.

Wilson PD et al. (2004) Polycystic kidney disease.

[^]
16.

Chapman AB et al. (1992) Intracranial aneurysms in autosomal dominant polycystic kidney disease.

[^]
17.

Germino GG et al. (1992) The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.

[^]
18.

Coto E et al. (1992) Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).

[^]
19.

Pound SE et al. (1992) Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.

[^]
20.

Tao Y et al. (2005) Caspase inhibition reduces tubular apoptosis and proliferation and slows disease progression in polycystic kidney disease.

[^]
21.

Bear JC et al. (1992) Autosomal dominant polycystic kidney disease: new information for genetic counselling.

[^]
22.

Fischer E et al. (2006) Defective planar cell polarity in polycystic kidney disease.

[^]
23.

Ravine D et al. (1991) Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease.

[^]
24.

Harris PC et al. (1991) Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker.

[^]
25.

Gillespie GA et al. (1991) CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.

[^]
26.

Hannig VL et al. (1991) Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors.

[^]
27.

Wilson PD et al. (1991) Reversed polarity of Na(+) -K(+) -ATPase: mislocation to apical plasma membranes in polycystic kidney disease epithelia.

[^]
28.

Song X et al. (2009) Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.

[^]
29.

Davies F et al. (1991) Polycystic kidney disease re-evaluated: a population-based study.

[^]
30.

Breuning MH et al. (1990) Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

[^]
31.

Breuning MH et al. (1990) Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

[^]
32.

Telenti A et al. (1990) Hepatic cyst infection in autosomal dominant polycystic kidney disease.

[^]
33.

Parfrey PS et al. (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease.

[^]
34.

Chapman AB et al. (1990) The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease.

[^]
35.

Hodgkinson KA et al. (1990) Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis.

[^]
36.

Germino GG et al. (1990) Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

[^]
37.

Harris PC et al. (1990) A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus.

[^]
38.

Ryynanen M et al. (1987) Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure.

[^]
39.

Lazarou LP et al. (1987) Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.

[^]
40.

Trent RJ et al. (1989) Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease.

[^]
41.

Ceccherini I et al. (1989) Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks.

[^]
42.

Vinet MC et al. (1989) Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family.

[^]
43.

Watson ML et al. (1987) Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.

[^]
44.

Reeders ST et al. (1988) Regional localization of the autosomal dominant polycystic kidney disease locus.

[^]
45.

Jordon D et al. (1989) Caroli's disease and adult polycystic kidney disease: a rarely recognized association.

[^]
46.

Gal A et al. (1989) Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.

[^]
47.

Reeders ST et al. () A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.

[^]
48.

Terada T et al. (1988) Congenital biliary dilatation in autosomal dominant adult polycystic disease of the liver and kidneys.

[^]
49.

Pretorius DH et al. (1987) Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant.

[^]
50.

Sedman A et al. (1987) Autosomal dominant polycystic kidney disease in childhood: a longitudinal study.

[^]
51.

De Bono DP et al. (1977) The management of polycystic kidney disease with special reference to dialysis and transplantation.

[^]
52.

Hossack KF et al. (1988) Echocardiographic findings in autosomal dominant polycystic kidney disease.

[^]
53.

Reeders ST et al. (1987) A study of genetic linkage heterogeneity in adult polycystic kidney disease.

[^]
54.

Zerres K et al. (1985) Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

[^]
55.

Zerres K et al. (1985) Acquired cystic kidney disease--a possible pitfall in genetic counseling.

[^]
56.

Kaye C et al. (1974) Congenital appearance of adult-type (autosomal dominant) polycystic kidney disease.

[^]
57.

Chanmugam D et al. (1971) Genetic intelligence: hereditary spherocytosis and polycystic disease of the kidneys in four members of a family.

[^]
58.

et al. (1968) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 16-1968.

[^]
59.

Emery AE et al. (1967) Myotonic dystrophy and polycystic disease of the kidneys.

[^]
60.

Sanfilippo FP et al. (1983) Transplantation for polycystic kidney disease.

[^]
61.

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

[^]
62.

Winichagoon P et al. (1984) The molecular basis of alpha-thalassaemia in Thailand.

[^]
63.

Sahney S et al. (1983) Adult polycystic kidney disease: presymptomatic diagnosis for genetic counselling.

[^]
64.

Tazelaar HD et al. (1984) Congenital hepatic fibrosis and asymptomatic familial adult-type polycystic kidney disease in a 19-year-old woman.

[^]
65.

Bear JC et al. (1984) Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling.

[^]
66.

Scheff RT et al. (1980) Diverticular disease in patients with chronic renal failure due to polycystic kidney disease.

[^]
67.

Wolf B et al. (1978) Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography.

[^]
68.

Wakabayashi T et al. (1983) Polycystic kidney disease and intracranial aneurysms. Early angiographic diagnosis and early operation for the unruptured aneurysm.

[^]
69.

Levey AS et al. (1983) Occult intracranial aneurysms in polycystic kidney disease. When is cerebral arteriography indicated?

[^]
70.

Shokeir MH et al. (1978) Expression of "adult" polycystic renal disease in the fetus and newborn.

[^]
71.

Dyer PA et al. (1982) Absence of linkage between adult polycystic kidney disease and the major histocompatibility system.

[^]
72.

Sahney S et al. (1982) Genetic counseling in adult polycystic kidney disease.

[^]
73.

Hogewind BL et al. (1980) Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis?

[^]
74.

Turco AE et al. (1995) A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.

[^]
75.

Peral B et al. (1995) Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.

[^]
76.

Burn TC et al. (1995) Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium).

[^]
77.

Hughes J et al. (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

[^]
78.

et al. (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium.

[^]
79.

Woo D et al. (1995) Apoptosis and loss of renal tissue in polycystic kidney diseases.

[^]
80.

Peral B et al. (1993) Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.

[^]
81.

Ravine D et al. (1994) Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

[^]
82.

Woo DD et al. (1994) Taxol inhibits progression of congenital polycystic kidney disease.

[^]
83.

Wunderle VM et al. (1994) Breakpoint break for consortium studying adult polycystic kidney disease.

[^]
84.

et al. (1994) The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.

[^]
85.

Somlo S et al. (1993) A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.

[^]
86.

Turco AE et al. (1993) Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

[^]
87.

Ye M et al. (1993) The secretion of fluid by renal cysts from patients with autosomal dominant polycystic kidney disease.

[^]
88.

Gabow PA et al. (1993) Autosomal dominant polycystic kidney disease.

[^]
89.

Dobin A et al. (1993) Segregation analysis of autosomal dominant polycystic kidney disease.

[^]
90.

Zerres K et al. (1993) Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie.

[^]
91.

Peral B et al. (1996) Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

[^]
92.

Simon P et al. (1995) Prognosis of autosomal dominant polycystic kidney disease.

[^]
93.

Ward CJ et al. (1996) Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.

[^]
94.

Geberth S et al. (1995) More adverse renal prognosis of autosomal dominant polycystic kidney disease in families with primary hypertension.

[^]
95.

Peral B et al. (1996) A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

[^]
96.

Torra R et al. (1996) Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease.

[^]
97.

Qian F et al. (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

[^]
98.

Brasier JL et al. (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.

[^]
99.

Perrone RD et al. (1997) Extrarenal manifestations of ADPKD.

[^]
100.

Jeffery S et al. (1998) Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1).

[^]
101.

Higashihara E et al. (1998) Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan.

[^]