Normal and Abnormal Development of the Biliary Tree
Gianfranco Alpini, Domenico Alvaro, Marco Marzioni, Gene LeSage, Nicholas LaRusso in The Pathophysiology of Biliary Epithelia, 2020
Autosomal dominant polycystic kidney disease is one of the more common hereditary diseases in man, occurring in 1:1000 individuals. It is characterized by the progressive development and enlargement of multiple fluid-filled cysts in the kidneys that may ultimately lead to end-stage renal disease. Hepatic involvement can be completely incidental, as illustrated in (Fig. 7A). Alternatively, the liver itself may have massive involvement (Fig. 7C), not unlike the renal disease (Fig. 7D). The cysts are lined by a simple biliary epithelium (Fig. 7B). Careful histomorphometric analysis demonstrates a strong positive correlation between the density of biliary microhamartomas (in essence, von Meyenburg complexes) and the severity of the polycystic liver disease.93 This finding supports the view that hepatic cysts in ADPKD result from cystic dilatation of biliary microhamartomas, with separation over time of the cysts from the biliary ducts from which they are derived.
End-Stage Renal Failure in African Americans
Meguid El Nahas in Kidney Diseases in the Developing World and Ethnic Minorities, 2005
Treatment is non-uniform; in instances where the causative agent is known, removal from exposure may diminish the rate of progression. ESRD is inevitable when patients are discovered at the stage 4 of the National Kidney Foundation’s Kidney Disease Outcomes Quality Initiative (K/DOQI) (30). In the case of autosomal dominant polycystic kidney disease, treatment has been mostly symptomatic, essentially of the hypertension that is frequently associated with this disease. However, it has been demonstrated that the pathogenic mechanisms include clonal expansion of partially differentiated epithelial cells that are dysregulated, undergo apoptosis, and have been shown to secret several growth factors, chemokines, proinflammatory cytokines, nucleotides, matrix metalloproteinases, lysosomal enzymes, and vasoactive substances; therefore, there are many potential interventions. Many of these are in the initial stages of experimentation, and will likely lead to the development of novel therapies that will prevent progression of the disease to end stage (31–33).
Objective structured clinical examination (OSCE)
Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon in Radiology for Undergraduate Finals and Foundation Years, 2018
This is a CT examination of the abdomen following the administration of oral and intravenous contrast media. Oral contrast is seen within the transverse colon anteriorly.There is bilateral enlargement and cystic replacement of the renal tissue. There is also the suggestion of cystic change in the inferior tip of the right lobe of the liver seen on this slice.The diagnosis is adult (autosomal dominant) polycystic kidney disease. The differential is of bilateral cystic renal disease, which includes autosomal recessive polycystic kidney disease (cysts tend to be small), VHL (tend to be less cysts, you would expect additional solid renal lesions; pancreatic cysts may also be seen), tuberous sclerosis, or bilateral simple renal cyst (unlikely to be so numerous).Approximately 50% will develop end-stage renal disease by the age of 60. Hypertension is common and there is an increased incidence of UTIs and renal stones. There is also an association with berry aneurysms, aortic root dilation and mitral and aortic valvular dysfunction. Patients may present with hypertension, pain / haematuria from cyst rupture, renal failure, or screening in family relatives (usually by US in early adulthood).
Morning blood pressure surge in early autosomal dominant polycystic kidney disease and its relation with left ventricular hypertrophy
Published in Renal Failure, 2021
Abdülmecit Yildiz, Saim Sag, Cuma Bulent Gul, Sümeyye Güllülü, Fatma Ezgi Can, Ömer Bedir, Mehmet Fethullah Aydin, Ayşegül Oruç, Sadettin Demirel, Suat Akgür, Mustafa Güllülü, Alparslan Ersoy
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is characterized by extra-renal manifestations ranging from liver disease to various cardiac abnormalities such as mitral valve prolapses [1]. In addition, some cardiovascular (CV) abnormalities like left ventricular hypertrophy (LVH) and endothelial dysfunction (ED) have been reported in young normotensive ADPKD patients with preserved kidney function. However, in normal populations, both LVH and ED are commonly found in hypertensive and elderly patients but not in normotensive and young individuals [2]. Although some pathophysiologic events such as borderline hypertension (HT), increased sympathetic activity, and abnormal ciliary activity on endothelial cells have been suggested as a cause of LVH and ED in early ADPKD patients, no clear cause has been identified until now [3]. Some studies on ADPKD patients evaluated the 24-h ambulatory blood pressure (BP) characteristics and found impaired circadian variation in BP [4,5]. However, to our knowledge, no study sought MBPS and Its relation with CV abnormalities, which are common in ADPKD patients. Morning hours are characterized by the highest incidence of major cardiovascular events, including myocardial infarction, stroke, or sudden death. The most likely reason for this is the activation of the sympathetic nervous system in the early hours of the day leads to a rapid increase in blood pressure (BP), known as MBBS. Chronically higher levels of MBPS may result in structural alterations in arterial vessels lead to LVH in the myocardium and ED in the vascular bed.
Pharmacotherapy of hypertension in patients with pre-dialysis chronic kidney disease
Published in Expert Opinion on Pharmacotherapy, 2020
Charalampos Loutradis, Pantelis Sarafidis
Hypertension and progressive decline of renal function are among the common clinical manifestations in autosomal dominant polycystic kidney disease (ADPKD) [39]. The presence of polycystins in the endothelial and vascular smooth muscle cells, the development of hypertension prior to renal function decline and the prognostic role of increased BP levels and endothelial dysfunction for the latter, indicate that hypertension management should be a priority in these patients [40]. An earlier clinical trial randomized 75 hypertensive ADPKD patients with left ventricular hypertrophy on rigorous (<120/80 mmHg) versus standard (135–140/85–90 mmHg) BP control and showed that lower BP levels were achieved in the low BP-goal (MAP: 90 ± 5 vs 101 ± 4 mmHg; P < 0.0001) and were associated with a higher decrease in LVMi (21 vs 35%, P = 0.006) over a 7-year follow-up period [41]. Another placebo-controlled, trial randomized 558 hypertensive ADPKD patients to a standard (120/70–130/80) or a low BP-target (95/60–110/75 mmHg) and to either lisinopril plus telmisartan or lisinopril plus placebo, and results indicated that annual kidney-volume increase was lower (5.6 vs. 6.6%; P = 0.006) and LVMi (−1.17 vs −0.57 g/m2/year; P < 0.001) and urinary albumin excretion (−3.77 vs +2.43; P < 0.001) reduced to a greater extent in the low-BP group [42].
Excess healthcare costs in patients with autosomal dominant polycystic kidney disease by renal dysfunction stage
Published in Journal of Medical Economics, 2021
Patrick Gagnon-Sanschagrin, Yawen Liang, Myrlene Sanon, Dorothee Oberdhan, Annie Guérin, Martin Cloutier
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, with a prevalence of 4.3 per 10,000 in the United States (US)1. ADPKD is characterized by the development of renal cysts that disrupt urine concentration and may cause symptoms such as hypertension, hematuria, abdominal pain, and urinary tract infections2,3. In early stages, the disease is usually asymptomatic for decades, with renal function appearing normal from compensatory mechanisms; in later stages, the disease may cause functional deterioration4. However, a significant number of patients with ADPKD can progress through chronic kidney disease (CKD) stages at a younger age and reach end-stage renal disease (ESRD) at a faster rate5. In most patients, ADPKD eventually progresses to end-stage renal disease requiring renal replacement therapy (ESRD-RRT), such as long-term dialysis or kidney transplant3. Accordingly, ADPKD disproportionately accounts for 7–10% of all ESRD cases in Europe4 and about 5% in the US reported by USRDS (United States Renal Data System).
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