Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease

Abstract

The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis), and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and complemented with digital subtraction arteriography when indicated. Mean age at diagnosis was 35.1 ± 14.9 years, and mean serum creatinine at referral was 2.4 ± 2.8 mg/dL. The most frequent clinical manifestations during the disease were arterial hypertension (63.3%), lumbar pain (55.4%), an abdominal mass (47.8%), and urinary infection (35.8%). Loss of renal function occurred in 27 patients (mean age: 45.4 ± 9.5 years). The liver was the second organ most frequently affected (39.1%). Stroke occurred in 7.6% of the patients. Asymptomatic intracranial aneurysm was detected in 3 patients and arachnoid cysts in 3 other patients. In conclusion, the most common clinical features were lumbar pain, arterial hypertension, abdominal mass, and urinary infection, and the most serious complications were chronic renal failure and stroke. Both intracranial aneurysms and arachnoid cysts occurred in asymptomatic patients at a frequency of 7.14%.

Tradução, adaptação cultural e aplicação de um questionário de dor para pacientes com doença renal policística

“…However, low back pain was the symptom most frequently reported by the patients (13%), and, when added to abdominal pain, it reached 22% of the patients, confirming that pain can contribute to the diagnosis of ADPKD. 16 In addition, it is worth noting that of the patients who sought a specialist due to a positive family history, 21% reported pain before the diagnosis, but had not related it to polycystic kidney disease, in accordance with that reported by Bajwa et al 16 Low back and abdominal pains were the most frequent ones, followed by headache and chest pain, as reported by Bajwa et al 16 and, in Brazil, by Romão et al 36 The present study evidenced that those pains (low back, abdominal, and headache) were reported in isolation or, more frequently, in association, which is also in accordance with the study by Bajwa et al, 16 in which 70% of the patients had more than one type of pain, and in only 18% the pain had a single location. The frequencies of low back (once a week) and abdominal (less than once a month) pains found in our study differed from those of the North-American population, which characterized those pains as continuous.…”

Frequency of Nerve Root Sleeve Cysts in Autosomal Dominant Polycystic Kidney Disease

“…A disorder in collagen and ECM synthesis and metabolism leads to splitting and duplication of the basal membrane of epithelial cells and incompliance of ECM and development of cysts in patients with ADPKD. This compliance disorder explains the development of cysts in other organs, intracranial aneurysms, heart valve anomalies, and other extrarenal disorders, such as hernia and diverticula (10)(11)(12). The most common extrarenal finding in patients with ADPKD is liver cysts, with an incidence of up to 50% (13).…”

Intracranial aneurysm and arachnoid cyst: just a coincidence? A case report

“…Because of this, cere- The current prevalence of brain aneurysms in patients with polycystic kidney disease ranges from 4 to 12%, which is higher than in the general population (1-4%). 3 In these cases, the risk of rupture risk is higher: about five times greater than in patients without this disease. 3 Romão et al 3 evaluated 92 patients with polycystic disease and found that six of them had some form of intracranial lesion: three with aneurysms and three with arachnoid cysts.…”

“…1 The estimated overall prevalence of unruptured intracranial aneurysms in adults without comorbidities is about 3.2%. 3 Therefore, although they are common lesions that are often associated with collagen diseases such as Marfan syndrome and polycystic renal disease, 3 an association between an arachnoid cyst and brain aneurysm in the same patient is extremely rare. 4,5 The aim of this paper was to report a case of a patient with a diagnosis of an arachnoid cyst and a non-ruptured intracystic brain aneurysm.…”