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首页> 外文期刊>Brazilian Journal of Medical and Biological Research >Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease
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Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease

机译:常染色体显性遗传多囊肾的肾脏和肾外表现

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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%.
机译:本研究的目的是确定巴西人群样本中常染色体显性遗传性多囊肾患者的最常见临床特征的频率。回顾了1985年至2003年期间92例常染色体显性遗传性多囊肾病患者的病历。记录以下数据:诊断时的年龄,性别,相关的临床表现,中风的发生,肾功能丧失时的年龄(开始透析)以及有家族史。超声检查腹部内脏受累情况。通过磁共振血管造影对42例无症状患者进行前瞻性研究,并在有指征时补充数字减影动脉造影。诊断时的平均年龄为35.1±14.9岁,转诊时的平均血清肌酐为2.4±2.8 mg / dL。疾病期间最常见的临床表现是动脉高压(63.3%),腰部疼痛(55.4%),腹部肿块(47.8%)和尿路感染(35.8%)。肾功能丧失发生于27例患者(平均年龄:45.4±9.5岁)。肝脏是受影响最严重的第二器官(39.1%)。中风发生在7.6%的患者中。 3例患者发现无症状颅内动脉瘤,其他3例患者发现蛛网膜囊肿。总之,最常见的临床特征是腰痛,动脉高压,腹部肿块和尿路感染,最严重的并发症是慢性肾功能衰竭和中风。无症状患者的颅内动脉瘤和蛛网膜囊肿均以7.14%的频率发生。

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