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  • Title: [Current opinions on the etiology and pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). II. Factors other than genetic factors which have an influence on disease course and selected clinical problems].
    Author: Jasik P, Sułowicz W, Kraśniak A, Stompór T.
    Journal: Przegl Lek; 1998; 55(11):599-606. PubMed ID: 10216375.
    Abstract:
    In the first part of this paper achievements in the genetic investigations of ADPKD and pathomechanism of cyst formation have been presented. Majority of authors acknowledge that first type of the disease (ADPKD1) in comparison with the second (ADPKD2) has more severe clinical course. On the basis of clinical analysis of selected affected families the larger and larger emphasis has been put on the influence of such factors like: presence of arterial hypertension, especially role of RAA system, sex, diet, hyperlipoproteinemia, environmental factors, toxic and infectious agents. It seems that genetic analysis of the RAA system and ADPKD will partially explain differences in the clinical course of the disease in different families. Persons with DD genotype in RAA system have statistically significant, more severe clinical course in comparison with their relatives with DI or II genotype. Decidedly worse course of the disease is observed in patients with positive family history of arterial hypertension and in persons with increased blood pressure. Patients sex play a major role. Men have more severe renal manifestations, when in women symptoms and complications associated with liver cysts are more frequent than in men. Frequency of intracranial aneurysms (ICA) in the population of patients with ADPKD have been presented. CT, MRA and classical angiography are in order screening tests for detection of ICA, especially in persons with family history of their prevalence. Prevalence of liver cysts and selected clinical symptoms and complications associated with extrarenal manifestations have been discussed. Problems associated with infections of the urinary tract and cysts, their etiology, pathomechanisms and treatment have been presented. Ultrasonography seems to be the best diagnostic tool because of it's accessibility, high sensitivity and low cost. It is accepted, that presence of 3 cysts in both kidneys in ADPKD kindreds in significant for diagnosis. Modified Ravine's criteria for diagnosis of ADPKD have also been presented. Employment of modern diagnostic methods in combination with genetic analysis (especially linkage analysis) enable early diagnosis in persons who are at risk of ADPKD.
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