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11/162. Co-occurrence of autosomal dominant polycystic kidney disease and marfan syndrome in a kindred.

    Several reports exist of the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and marfan syndrome, including a report of ADPKD and "overlap" connective tissue disorder in a family with linkage to the PKD1 locus. We report the results of clinical and linkage investigations of an ADPKD family in whom several affected subjects also had aortic vascular complications as well as features of marfan syndrome. Detailed clinical assessment and linkage analysis were performed with polymorphic microsatellite markers closely linked to the PKD1 and FBN1 loci. survival data were compared with 10 geographically matched PKD1 families. Although several subjects had features of both ADPKD and marfan syndrome, detailed clinical examination of the extended family indicated that the two conditions had converged within the kindred. For those with ADPKD, linkage was established to the PKD1 locus (lod score, 6.04). Among those with features of marfan syndrome, linkage was confirmed to the FBN1 locus (lod score, 1.87). Five of six subjects with both ADPKD and the high-risk FBN1 haplotype had associated vascular complications. In contrast, among the remaining nine individuals with PKD1 alone, seven had aortic assessments, and none were found to have aortic complications. Our experience suggests that when prominent features of connective tissue disease or vascular complications are found in ADPKD patients, alternative additional diagnoses should be considered, including the possibility of a coinherited FBN1 mutation responsible for marfan syndrome or, alternatively, an associated milder FBN1 phenotype in the absence of sufficient other clinical features to allow marfan syndrome to be diagnosed.
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keywords = kidney disease, kidney
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12/162. Bilateral emphysematous pyelonephritis with autosomal-dominant polycystic kidney disease successfully treated by conservative method.

    Emphysematous pyelonephritis (EPN) is an uncommon and potentially life-threatening necrotizing inflammation of the renal parenchyma. EPN associated with autosomal dominant polycystic kidney disease (ADPCK) is extremely rare. We report such a case of bilateral EPN with ADPCK that was successfully treated with conservative methods. To our knowledge, our case is only the second to document bilateral EPN occurring with ADPCK and the first one to be treated successfully with conservative methods.
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ranking = 0.20000003861266
keywords = kidney disease, kidney
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13/162. infertility treatment in autosomal dominant polycystic kidney disease (ADPKD)--a case report.

    Autosomal dominant polycystic kidney disease (ADPKD) is a frequently occurring inherited condition with cysts in many organs including the kidneys. However, a combination of seminal vesicle cysts, cystic obstruction of ejaculatory duct and ADPKD is rarely encountered. The following case report presents an infertile ADPKD patient who had seminal vesicle cysts and ejaculatory duct cyst, and describes the treatment by transurethral resection of the ejaculatory duct.
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ranking = 1.0000000096532
keywords = kidney disease, kidney
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14/162. Ileo-ileo-colic intussusception secondary to an ileal lipoma.

    adult intussusception is extremely uncommon and constitutes approximately 5-16% of all intussusceptions. We describe a case of ileo-ileo-colic intussusception secondary to an ileal lipoma occurring in a 22 year old man who in addition had autosomal dominant polycystic kidney disease. CT scan played a pivotal role in not only demonstrating the cause of intestinal obstruction (intussusception) but also showed that a lipoma was the lead point precipitating the intussusception.
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keywords = kidney disease, kidney
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15/162. Ruptured cerebral aneurysm not detected by magnetic resonance angiography in juvenile autosomal dominant polycystic kidney.

    Recently, it has been reported that magnetic resonance angiography (MRA) is useful for screening and following up cerebral aneurysms in patients with autosomal dominant polycystic kidney disease (ADPKD). However, a patient was encountered with a ruptured cerebral aneurysm that was not detected by routine MRA. The patient, a 29-year-old man with ADPKD, was followed up at our hospital for more than 5 years. Ten months after an MRA examination, he suddenly developed severe headache. brain computed tomography revealed subarachnoid hemorrhage. Digital subtraction angiography detected an aneurysm with a diameter of approximately 2 mm in the anterior communicating artery. Clipping of the aneurysm was immediately performed and he recovered without sequela after operation. magnetic resonance angiography is useful to detect cerebral aneurysms, but it can not detect aneurysms measuring less than 4 mm.
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ranking = 0.20000003861266
keywords = kidney disease, kidney
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16/162. The role of bone scanning in the detection of metastatic calcification: a case report.

    Metastatic calcification associated with renal failure is well described. Bone scanning agents accumulate to various degrees within extraskeletal sites of metastatic calcification. The authors describe a patient with polycystic kidney disease resulting in renal failure, with the subsequent development of secondary hyperparathyroidism and metastatic calcification. Bone scintigraphy revealed abnormal uptake in both lungs, the right leg, and the right hand.
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keywords = kidney disease, kidney
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17/162. Thoracic aortic dissection in a patient with autosomal dominant polycystic kidney disease treated with maintenance hemodialysis.

    A patient with autosomal dominant polycystic kidney disease (ADPKD) on maintenance hemodialysis (HD) experienced spreading back pain with a sudden onset, and was diagnosed with thoracic aortic dissection. Reports of ADPKD with aortic dissection are rare. hypertension, which is essentially universal both among ADPKD and hemodialysis patients, is a known risk factor for aortic dissection. Additionally, some reports have indicated that patients with ADPKD have aortic fragility. We suspect that aortic dissection may be less rare than presently apparent among HD patients with ADPKD.
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keywords = kidney disease, kidney
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18/162. Ruptured sinus of a Valsalva aneurysm associated with autosomal-dominant polycystic kidney disease in an elderly patient: report of a case.

    We report herein the case of a 71-year-old woman with autosomal-dominant polycystic kidney disease (ADPKD), who was referred to our hospital for investigation of facial edema. echocardiography demonstrated a large aneurysm arising from the non-coronary sinus of valsalva, with a left to right shunt and jets of blood passing from the aneurysm toward the septal leaflet of the tricuspid valve. Surgical treatment was successfully carried out by resecting the aneurysmal wall and performing a patch closure of the orifice. It is well known that ADPKD predisposes patients to cardiovascular disease, and this case report serves to demonstrate that when a patient with ADPKD presents with progressive heart failure, the possibility of a ruptured sinus of a Valsalva aneurysm must be considered.
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keywords = kidney disease, kidney
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19/162. Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form.

    BACKGROUND: To study the sonographic pattern of autosomal recessive polycystic kidney disease (ARPKD) in early adulthood in order to identify imaging criteria to diagnose this disease and to distinguish between recessive and autosomal dominant polycystic kidney disease (ADPKD) in that age group. methods: An abdominal ultrasound was performed on four ARPKD subjects (with a mean age of 20.2) and on 33 ADPKD subjects in early adulthood (29 without renal failure with a mean age of 20.5, and four with renal failure with a mean age of 26.5). Linkage studies with ADPKD and ARPKD markers were compatible with the clinical diagnosis in all cases. RESULTS: The renal sonographic features in ARPKD subjects included multiple small cysts in a normal-sized kidney, increased cortical echogenicity and loss of corticomedullary differentiation. In ADPKD subjects without renal failure, sonographic features included few or multiple cysts of different sizes, in normal-sized kidneys in 22 out of 29 patients (75.8%), normal cortical echogenicity and conserved corticomedullary differentiation, except in patients with nephromegaly. All ADPKD subjects with renal failure had nephromegaly and loss of corticomedullary differentiation. The hepatic sonographic features in ARPKD patients included portal fibrosis and in some cases Caroli's disease, while in ADPKD patients a normal hepatic echostructure was detected in all but one case, in addition to simple hepatic cysts in a few cases. CONCLUSIONS: The evaluation of the sonographic features of the kidneys and those of the liver may help in the differential diagnosis between ARPKD and ADPKD in early adulthood.
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ranking = 1.2000000289595
keywords = kidney disease, kidney
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20/162. CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

    disease-modifying genes might participate in the significant intrafamilial variability of the renal phenotype in autosomal dominant polycystic kidney disease (ADPKD). Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is a chloride channel that promotes intracystic fluid secretion, and thus cyst progression, in ADPKD. The hypothesis that mutations of the CF gene, which encodes CFTR, might be associated with a milder renal phenotype in ADPKD was tested. A series of 117 unrelated ADPKD probands and 136 unaffected control subjects were screened for the 12 most common mutations and the frequency of the alleles of the intron 8 polymorphic TN: locus of CF. The prevalence of CF mutations was not significantly different in the ADPKD (1.7%, n = 2) and control (3.7%, n = 5) groups. The CF mutation was DeltaF508 in all cases, except for one control subject (1717-1G A). The frequencies of the 5T, 7T, and 9T intron 8 alleles were also similar in the ADPKD and control groups. Two additional patients with ADPKD and the DeltaF508 mutation were detected in the families of the two probands with CF mutations. kidney volumes and renal function levels were similar for these four patients with ADPKD and DeltaF508 CFTR (heterozygous for three and homozygous for one) and for control patients with ADPKD collected in the University of colorado health Sciences Center database. The absence of a renal protective effect of the homozygous DeltaF508 mutation might be related to the lack of a renal phenotype in CF and the variable, tissue-specific expression of DeltaF508 CFTR. Immunohistochemical analysis of a kidney from the patient with ADPKD who was homozygous for the DeltaF508 mutation substantiated that hypothesis, because CFTR expression was detected in 75% of cysts (compared with <50% in control ADPKD kidneys) and at least partly in the apical membrane area of cyst-lining cells. These data do not exclude a potential protective role of some CFTR mutations in ADPKD but suggest that it might be related to the nature of the mutation and renal expression of the mutated CFTR.
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ranking = 1.0000000193063
keywords = kidney disease, kidney
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