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11/66. Unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis: a case report.

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. There are some reports in the literature concerning unilateral ADPKD. However, in adults, only a few cases of unilateral ADPKD with agenesis of contralateral kidney have been reported. We present a case of unilateral ADPKD with agenesis of contralateral kidney in a 66-yr-old man. Radiographic images showed the enlarged right kidney with multiple variable-sized cysts and the absence of the left kidney. The diagnosis of ADPKD was confirmed by the family screening. The patient received maintenance hemodialysis for endstage renal disease. We report a case of unilateral ADPKD associated with contralateral renal agenesis in a 66-yr-old male patient with a literature review.
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12/66. Imaging medullary cystic kidney disease with magnetic resonance.

    Medullary cystic kidney disease is characterized by multiple renal cysts at the corticomedullary boundary area, by autosomal dominant inheritance, and by onset of chronic renal failure in the third decade of life. Its clinical manifestations are often insignificant and nonspecific. Furthermore, its diagnosis may be difficult in sporadic forms where genetic linkage analysis cannot be performed. The authors report the case of a patient presenting with a sporadic form of medullary cystic kidney disease whose diagnosis was confirmed using computerized tomography with 3-dimensional reconstruction at the nephrography-excretion time and magnetic resonance imaging (MRI) with magnetic resonance angiography and urography after the injection of gadolinium, a nonnephrotoxic compound. Both imaging techniques showed normal-sized, normal-shaped kidneys containing multiple cysts from 1 to 30 mm in diameter in the medulla and at the corticomedullary junction. A characteristic medullary nephrogram appeared after injection of iodinated contrast medium or gadolinium corresponding to contrast-filled dilated collecting ducts. This report shows that MRI with gadolinium injection can substitute for computerized tomography in azotemic patients. MRI seems particularly promising for the diagnosis of cystic diseases of the kidney and must also be considered when investigating a patient with chronic renal failure of unknown origin.
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13/66. Multicentric papillary renal carcinoma in renal allograft.

    A renal transplant recipient with 13 years of excellent allograft function was found incidentally to have a malignant mass in his transplanted kidney. After resection, pathological analysis showed 29 separate lesions of renal cell carcinoma. All tumors were confined within the renal capsule. The majority of tumors (21 of 29 tumors) were chromophil basophilic carcinoma with papillary architecture, 5 tumors were clear cell, 2 tumors were mixed cell type, and 1 tumor was chromophil eosinophilic papillary carcinoma. These histological findings are similar to those reported in hereditary papillary renal carcinoma. To our knowledge, this is the first case of multicentric papillary renal carcinoma occurring in the renal allograft. We speculate that the allograft in this case is predisposed to malignant changes because of preexisting genetic mutations, as well as prolonged immunosuppression.
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14/66. Malignancy risk in patient with neurofibromatosis and autosomal dominant polycystic kidney disease.

    Cancer appearance in some inherited diseases depends on the interactions with other genes. lung cancer is rare in neurofibromatosis and has not been reported in Caucasian population. In this paper, we present the case of lung adenocarcinoma in a patient with neurofibromatosis, pseudoarthrosis of tibia, and autosomal dominant polycystic kidney disease. cytogenetic analysis of the pleural effusion showed chaotic cleavage and constitutional inversion of chromosome 9, transmitted from the mother. family investigation revealed two autosomal dominant diseases, neurofibromatosis and polycystic kidney disease in the same family. These findings suggest that the second autosomal dominant disease in the family and inversion of chromosome 9 contributed to the severity of neurofibromatosis and patient's risk to malignancies.
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15/66. Unilateral renal cystic disease: a case presentation.

    An infant who presented with a unilateral renal cystic process underwent nephrectomy due to hypertension. There was no evidence of any other disease process. family history and investigation were negative for renal cystic disease or other genetic disease process. The pathology most resembled autosomal dominant polycystic kidney disease or a specific entity described as unilateral renal cystic disease.
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16/66. Right not to know or duty to know? Prenatal screening for polycystic renal disease.

    New dimensions in different ethical scenarios following genetic information require new medical-ethical Action Guides for physician-patient interaction. This paper discusses the ambiguity in moral choice between a "right not to know" and "a duty to know", regarding parental decision-making pro or contra selective abortion following prenatal screening for autosomal dominant polycystic kidney disease (Potter III) and related public policy issues.
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17/66. Early onset polycystic kidney disease: how early is early?

    We report a case of a six-month-old infant with autosomal dominant polycystic kidney disease. He was a full term baby with an uneventful pre and postnatal period. He was delivered by uncomplicated vaginal delivery without forceps or fetal distress. His father was recently diagnosed with adult onset autosomal dominant polycystic kidney disease (APKD) with creatinine clearance around 25%-30%. The parents requested renal ultrasound of the baby to screen for APKD. It revealed normal sized and normal shaped kidneys, but with multiple bilateral cysts in the renal cortices, each measuring about 5 mm-7 mm in diameter. Subsequent dna analysis showed presence of PKD1 gene, present on chromosome 16. His renal function was within normal range. The baby needs to be regularly followed-up for the most common complications of APKD, including hypertension and renal insufficiency.
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18/66. subarachnoid hemorrhage after exercise stress testing.

    exercise stress testing is generally a safe, common procedure used to evaluate patients with suspected or known cardiopulmonary disease. Noncardiac complications are rare. A single case of hypertensive intracranial hemorrhage as a result of exercise stress testing is reported in the literature. This report presents a case of subarachnoid hemorrhage from a ruptured berry aneurysm after stress testing in a patient with autosomal polycystic kidney disease and renal failure.
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19/66. Sudden death caused by dissecting thoracic aortic aneurysm in a patient with autosomal dominant polycystic kidney disease.

    Among the fatal vascular complications associated with autosomal dominant polycystic disease (ADPKD), ruptured intracerebral aneurysm and ruptured abdominal aortic aneurysm are widely known. However, there are few reports on the dissecting thoracic aortic aneurysm as a fatal complication of ADPKD. We report a case of a 58-year-old man with a history of ADPKD who presented to the emergency department with out-of-hospital cardiac arrest. Immediate cardiopulmonary resuscitation restored a spontaneous circulation successfully and subsequent image study revealed a type I dissecting thoracic aortic aneurysm. Emergency aortic grafting was performed--but he died from postoperative haemorrhage. The surgical specimen of the aorta showed cystic medial necrosis. This rare case emphasizes the need to consider such a diagnosis in a patient with ADPKD who presents to the emergency department with sudden cardiac arrest. In addition, the histological finding indicates the aetiological role of a collagen defect in addition to chronic hypertension in the pathogenesis of aortic dissection in ADPKD patients.
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20/66. The coexistence of acute aortic dissection with autosomal dominant polycystic kidney disease--description of two hypertensive patients.

    BACKGROUND: Acute aortic dissection is a rare but potentially lethal disease characterized by high early mortality when left untreated. However, survival may be significantly improved by the timely institution of appropriate medical and/or surgical therapy. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, accounting for 8-10% of the cases of end-stage renal disease. hypertension occurs frequently and is an early manifestation of ADPKD in approximately 50-70% of non-azotemic patients. ADPKD, often caused by mutations in the PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly attributed to the frequent occurrence of hypertension. methods: We present two cases of hypertensive patients with acute aortic dissection (type A Stanford) coexisting with ADPKD. RESULTS: A 54-year-old male hypertensive patient and a 47-year-old male hypertensive patient, both with known ADPKD were diagnosed and operated with acute dissection of ascending aorta. Both patients were characterized by severe hypertension; therefore, in both cases, degree of hypertension is likely to be causative for this vascular complication. However, since ADPKD is associated with the vascular complications mentioned above, abnormality of the structure of the arterial wall of the thoracic aorta cannot be ruled out. CONCLUSION: Aortic dissection is a rare but potentially disastrous complication, and clinicians should always consider this when dealing with patients with ADPKD who present with chest pain or collapse.
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Last update: September 2014