Monika Gradzik

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease

This study aimed to determine which patients with autosomal dominant polycystic kidney disease need to undergo MRA for screening of intracranial aneurysms. Of 83 pre-dialysis patients, aneurysms were found in nearly 17% and lead to subsequent treatment in 6%. Aneurysms were more common in older patients and most were smaller than 1 cm in size. Patients over 45 years of age should undergo MRA for aneurysm screening (see the accompanying commentary by Klein). BACKGROUND AND PURPOSE: ADPKD correlates with an increased frequency of ICANs, but universal screening for ICANs in patients with ADPKD is not currently recommended. The aim of our study was to determine which groups might benefit from screening by determining the prevalence of ICANs in the Polish ADPKD population and identifying any subgroups with an increased risk for ICANs. MATERIALS AND METHODS: Eighty-three adult, predialysis-phase patients with ADPKD underwent screening for ICANs with MRA of the brain. RESULTS: The prevalence of ICANs in the studied population was 16.9%, with 6% of the screened group requiring neurosurgical intervention. We also found that the frequency of ICANs increases with age, reaching 22.4% in patients older than 45 years. All diagnosed ICANs were small (< 9 mm) and were localized in the anterior circulation. In addition, MR imaging revealed arachnoid cysts in 4.8% of patients with ADPKD. CONCLUSIONS: We suggest that patients older than 45 years with ADPKD be considered as candidates for screening for ICANs, and we propose a clinical algorithm for this subgroup. However, we could not find risk factors for ICANs in younger patients with ADPKD.

Blood pressure and intracranial aneurysms in autosomal dominant polycystic kidney disease.

Background/Aims: Autosomal dominant polycystic kidney disease (ADPKD) is correlated with an increased frequency of both intracranial aneurysms (ICANs), and arterial hypertension (AH). The aim of our study was to search for the association between blood pressure (BP) and ICANs in ADPKD patients. Methods: Sixty-eight adult, pre-dialysis phase ADPKD patients underwent both screening for ICANs with magnetic resonance angiography of the brain, and ambulatory blood pressure monitoring (ABPM). Results: ICANs were diagnosed in 10 patients (ICAN(+) group), while in 58 were not (ICAN(-) group). The nighttime maximum diastolic blood pressure (DBP), maximum increase in DBP from measurement to measurement (positive delta of DBP) at night, and the standard deviation of the daytime mean arterial pressure were significantly higher in ICAN(+) compared to ICAN(-) patients. Additionally, in a subgroup of patients after 45 years-of-age, ICAN(+) patients had significantly higher maximum 24-hour and daytime systolic blood pressure, maximum 24-hour, daytime, nighttime DBP, maximum daytime and nighttime positive delta of DBP compared to ICAN(-) cases. Conclusions: Development of ICANs in hypertensive ADPKD patients is accompanied with higher values of some BP parameters measured by ABPM. Hypertensive ADPKD patients with substantial fluctuations in BP assessed by ABPM, especially those after 45 years-of-age, should become candidates for screening for ICANs.

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.

Arachnoid cyst in autosomal dominant polycystic kidney disease patient

also demonstrated. Management of genitourinary TB is similar to that of TB at other sites. Appropriate treatment with antimycobacterial agents is successful in eradicating active infection in almost all patients. This case highlights the importance of having a high index of suspicion for tuberculosis in a patient who presents with recurrent sterile pyuria and renal calcifications, especially in countries where tuberculosis is endemic.

Spinal meningeal cysts in autosomal dominant polycystic kidney disease

only a few patients with secondary membranous nephropathy. These were secondary membranous nephropathy due to systemic lupus erythematosus (two patients), HBV infection (one patient), malignancy (four patients) and sarcoidosis (one patient). In another study, anti-PLA2R1 immunofluorescence staining on renal biopsy tissue was positive in 14 of 80 secondary membranous nephropathy patients. These 14 patients included one person with Sjogren’s syndrome, three each with sarcoidosis and neoplasms, and seven patients with hepatitis C related membranous nephropathy. In our case, the hepatitis serology and immunohistochemical evidence of hepatitis B surface antigen within glomeruli suggested the possibility of a secondary cause for membranous nephropathy. Anti HBV treatment is likely to have been important in the response to therapy, though ramipril might have also contributed to remission. The presence and persistence of anti-phospholipase A2 receptor antibody in this patient highlights its possible occurrence in secondary membranous nephropathy. No author has any conflict of interest. There are no disclosures. Accepted for publication 4 January 2017.

Polycystic Liver Disease in Autosomal Dominant Polycystic Kidney Disease

Liver cysts are a commonly encountered phenomenon and may represent a broad cluster of disorders of diverse etiology. Most cysts are asymptomatic and do not require treatment. Simple cysts are the most prevalent. Polycystic liver disease (PLD) can be diagnosed when more than 20 cysts are detected in the liver. In most cases PLD is associated with autosomal dominant polycystic kidney disease (ADPKD), but it may also occur in the course of other disorders and in an isolated dominantly inherited form. In ADPKD cystogenesis is associated with loss-of-function mutations in PKD1 or PKD2 genes. Isolated autosomal dominant polycystic liver disease (ADPLD) pathogenesis is linked to mutations in PRKCSH and Sec63 genes. PLD results from structural changes in the biliary tree development. Both in ADPKD related PLD and in autosomal dominant polycystic liver disease symptoms usually appear when the cysts are large or numerous enough to significantly increase the liver volume. Most important complications of the disease are: cyst infection, cyst rupture, intracystic hemorrhage and liver failure. Treatment of PLD depends on liver phenotype and symptoms severity. Invasive treatment is needed in patients with advanced PLD and liver failure.

Diagnostic Imaging of Autosomal Dominant Polycystic Kidney Disease

Summary Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders caused by a single gene mutation. The disease usually manifests itself at the age of 30–40 years and is characterized by formation of renal cysts along with the enlargement of kidneys and deterioration of their function, eventually leading to renal insufficiency. Imaging studies (sonography, computed tomography, magnetic resonance imaging) play an important role in the diagnostics of the disease, the monitoring of its progression, and the detection of complications. Imaging is also helpful in detecting extrarenal manifestations of ADPKD, most significant of which include intracranial aneurysms and cystic liver diseases.