Minerva medica
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Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal monogenic disorder. Over the past two decades, its study has yielded remarkable progress. ⋯ The large inter- and intra-familial variability, explained to a large extent by genetic heterogeneity and modifier genes, is now better appreciated. Increased understanding of the progression of the disease and of its underlying genetic, molecular and cellular mechanisms have laid the foundations for the development of potentially effective therapies and clinical trials.
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The kidney is commonly affected in thrombotic thrombocytopenic purpura (TTP), a multi-system disorder with microvascular thrombosis of the capillaries and arterioles. Nevertheless, due to difference in its diagnostic criteria, the frequency and severity of renal dysfunction in TTP remains controversial. Recent studies indicate that the severe deficiency of a von Willebrand factor (VWF) cleaving protease, ADAMTS13, is the main cause of platelet thrombosis in TTP; it is now possible to define TTP at the molecular level. ⋯ Patients with TTP, particularly of the hereditary type, may develop chronic renal failure. This complication may be a consequence of repeated insults by overt or subclinical microvascular thrombosis to the kidney, or it may have a separate cause. Therapy of hereditary TTP should aim not only to prevent acute exacerbations but also to minimize the risk of irreversible renal injury.