Genetics of Renal Cystic Diseases

Torres, Vicente E.

doi:10.1007/978-1-4613-1603-9_10

Inheritance of Kidney and Urinary Tract Diseases 1990

DOI: 10.1007/978-1-4613-1603-9_10

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Genetics of Renal Cystic Diseases

Vicente E. Torres¹

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1992

2019

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Cited by 2 publications

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“…1 Clinical characteristics include polyuria and polydipsia as early symptoms as well as growth retardation. 2 Although the central role of primary cilia in the pathogenesis of NPH and related cystic kidney disease has been established over the past decade, additional mechanisms have been suggested to contribute to the disease etiology of NPH. Recent genetic studies identified disease-causing mutations in genes implicated in DNA damage response (DDR) signaling.…”

mentioning

confidence: 99%

Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis

Jain

Kaiser

Bohl

et al. 2019

Kidney International

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mentioning

confidence: 99%

Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis

Jain

Kaiser

Bohl

et al. 2019

Kidney International

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Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease.

Schievink

Torres

Piepgras

et al. 1992

Journal of the American Society of Nephrology

204

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The literature on the association of intracranial aneurysms in autosomal dominant polycystic kidney disease (ADPKD) consists mainly of case reports and small series of patients. To provide a more-detailed description of this association and its frequency, the records of all ADPKD patients with saccular intracranial aneurysms, all ADPKD autopsy cases including brain examination, and sex- and age-matched autopsy cases without ADPKD seen at the Mayo Clinic between 1950 and 1989 and of all Rochester residents with a diagnosis of subarachnoid hemorrhage or ADPKD between 1945 and 1984 were reviewed. The presentation of the 41 patients (22 men and 19 women; mean age, 46.4 yr) with this association was subarachnoid hemorrhage in 33, transient ischemic attacks in 2, incidental angiographic or autopsy finding in 5, and discovery during angiographic screening in 1. Thirty-one, seven, and three patients harbored one, two, and three aneurysms, respectively, arising from the middle cerebral artery (N = 23), anterior communicating artery (N = 16), internal carotid artery (N = 11), and vertebral or basilar artery (N = 4). A family history of intracranial aneurysm, subarachnoid hemorrhage, or intracranial hemorrhage at an early age was present in 22% of the patients. Small aneurysms (less than 5 mm) were less likely to have ruptured or caused symptoms (P less than 0.04). There was a trend for hypertension to be associated with the severity of the subarachnoid hemorrhage. Aneurysmal rupture occurred before age 50 in 64% of patients. Of the 89 ADPKD autopsy cases with brain examination, 22.5% had intracranial aneurysms.(ABSTRACT TRUNCATED AT 250 WORDS)

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Genetics of Renal Cystic Diseases

Cited by 2 publications

References 188 publications

Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis

Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis

Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease.

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