Treatment of autosomal dominant polycystic kidney disease — current status

Autosomalnie dominująca wielotorbielowatość nerek (ADKPD) jest najczęstszą genetycznie uwarunkowaną chorobą nerek, występującą z częstością 1:1000 urodzeń. Przyjmuje się, że 10% osób poddanych leczeniu nerkozastępczemu z powodu schyłkowej niewydolności nerek choruje na ADPKD. Celem niniejszej pracy jest omówienie aktualnego stanu wiedzy na temat leczenia i postępowania z chorymi na ADPKD.Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetically determined kidney disease, with an incidence of 1:1000 births. 10% of end stage renal disease that require renal replacement therapy is caused by ADPKD. The aim of this paper is to review current status of treatment and management of ADPKD patients

Natural history of intracranial aneurysms in autosomal dominant polycystic kidney disease

Autosomal-dominant polycystic kidney disease (ADPKD) is a relatively frequent genetic disorder that is associated with increased prevalence of intracranial aneurysms (IAs). However, evidence on the natural history of IAs in ADPKD is suboptimal. That leads to difficulties in development of recommendations on surveillance on patients with IAs in their medical history, or the need for repeat imaging for IAs in those with a negative result of the initial screening. The aim of the article is to present our experience on the natural history of IAs in ADPKD patients. Material and methods Thirty-four ADPKD patients, managed at our outpatient department, with imaging for intracranial aneurysms performed at least twice, were included into present retrospective analysis. Results Among 8 patients with an IA in their medical history, no new IA was observed during 93 patient-years of follow-up. In 6 patients with untreated, unruptured IAs, IA growth was observed in 2 cases during 32 patient-years of follow-up. Finally, among 20 patients with a negative result of initial screening, 2 new IAs were noticed during 115 patient-years of follow-up, including 1 patient with a positive family history for an IA, and 1 patient without a family history. Conclusions Our observations support repeat imaging for IAs in patients with ADPKD, positive family history of IA, and negative result of initial screening. Additionally, efforts should be made to develop clinical and/or laboratory risk factors for IAs development in ADPKD patients without family history of IA, which enable to identify patients who should undergo repeat imaging for IAs

miRNA-16 as a predictive factor for intracranial aneurysms in autosomal dominant polycystic kidney disease

Introduction. Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder. It leads to multiple extra-renal complications, with intracranial aneurysms (IA) among the most serious. Biological markers could become tools in identifying patients at risk of an IA. MicroRNAs 16 (miR-16) and 25 (miR-25) have been proposed as being markers of IAs in the general population. In the current study, we attempted to discover if they may also be considered markers of IAs in ADPKD. Material and methods. 64 renal transplant recipients with ADPKD were included. After magnetic resonance angiography of the brain, they were divided into a case group (IA+, n = 13) and a control group (IA-, n = 51). Expression of miRNAs in plasma was analysed by qRT-PCR. Results. The expression of miR-16 was higher in the control (IA-) group. There was no statistically significant difference between the groups in terms of miR-25 expression. Conclusions and clinical implications. MicroRNA-16 is a potential marker of IAs in renal transplant recipients with ADPKD. It may become a tool to identify patients who should undergo screening for an IA