Clinical aspects of autosomal dominant polycystic kidney disease

Jp, Grünfeld; Wm, Bennett

doi:10.1097/00041552-199503000-00003

Cited by 7 publications

(3 citation statements)

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“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal cystic disease, and it is responsible for end-stage renal failure in 6%-10% of patients in North America and Europe (1). Although incurable, its early diagnosis is important in the treatment of complications, such as hypertension and urinary tract infection, and in the screening for intracranial aneurysms in families with increased occurrence (2)(3)(4).…”

mentioning

confidence: 99%

Rapid MR Imaging Detection of Renal Cysts: Age-based Standards

Nascimento

Mitchell²,

Zhang³

et al. 2001

Radiology

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mentioning

confidence: 99%

Rapid MR Imaging Detection of Renal Cysts: Age-based Standards

Nascimento

Mitchell²,

Zhang³

et al. 2001

Radiology

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“…Hypertension occurs frequently and is an early manifestation of ADPKD in approximately 50-70% of non-azotemic patients [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

The coexistence of acute aortic dissection with autosomal dominant polycystic kidney disease - description of two hypertensive patients

Pęczkowska

Januszewicz

Grzeszczak³

et al. 2004

Blood Pressure

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“…It accounts for up to 10% of patients, with end stage renal disease (ESRD) occurring most often in adult life. In addition to polycystic kidneys, the disease can cause cystic changes in the liver and other organs, cardiac valvular abnormalities, hypertension and cerebral arterial aneurysms (Gabow 1990;Gabow et al 1992;Leier et al 1984;Hossack et al 1988;Chapman et al 1992;Milutinovic et al 1980;Grunfeld and Bennett 1995).…”

Section: Introductionmentioning

confidence: 99%

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

Perrichot¹,

Mercier²,

Simon

et al. 1999

Human Genetics

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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited renal diseases. ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases. The search for mutations is a very important step in understanding the molecular mechanisms underlying ADPKD. Despite intense screening by many groups, only a small number of mutations have been described so far. We undertook the first study using denaturing gradient gel electrophoresis (DGGE) to scan for mutations in the non-duplicated region of the PKD1 gene in a large cohort of 146 French unrelated ADPKD patients. We successfully identified novel mutations: 3 are frameshift mutations, 2 nonsense mutations, 2 missense mutations, 1 is an insertion in the frame of 9 nucleotides, 3 intronic variations and several polymorphisms. One of these mutations is the fourth de novo mutation described in this gene. We also describe a family with possible clinical anticipation. DGGE is an effective method for detecting nucleotide changes in the PKD1 gene.

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Clinical aspects of autosomal dominant polycystic kidney disease

Cited by 7 publications

References 0 publications

Rapid MR Imaging Detection of Renal Cysts: Age-based Standards

Rapid MR Imaging Detection of Renal Cysts: Age-based Standards

The coexistence of acute aortic dissection with autosomal dominant polycystic kidney disease - description of two hypertensive patients

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

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