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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year-old man was found to have numerous cerebellar hemangioblastomas on magnetic resonance imaging (MRI). He denied any symptoms and had no history of hypertension, but his family history was remarkable for a father who died of renal cell carcinoma. Computed tomography (CT) of the abdomen revealed bilateral adrenal pheochromocytomas with significant enhancement in the regions where 131I-metaiodobenzylguanidine (MIBG) had noticeably accumulated. Endocrinological examinations demonstrated high plasma and urine catecholamine concentrations which were very responsive to metoclopramide and glucagon loading tests, without a significant change in blood pressure. After resection of bilateral pheochromocytomas, he underwent an operation for the cerebellar tumors. Since pheochromocytomas associated with Lindau or von Hippel-Lindau (VHL) disease have a tendency to multiple occurrence in normotensive patients, we suggest that patients with a family history involving VHL lesions should undergo cranial MRI, abdominal CT, MIBG scintigraphy and endocrinological examinations.
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PMID:Normotensive bilateral pheochromocytoma with Lindau disease: case report. 907 13

Pheochromocytomas are catecholamine-producing tumors, representing one of the most important causes of secondary hypertension. The classification of these tumors considers both sporadic and familial forms, intra- and extraadrenal localization as well as the dignity. Familial pheochromocytomas are primarily seen under the conditions of multiple endocrine neoplasia, von Hippel-Lindau disease or neurofibromatosis type 1. The list of clinical symptoms includes hypertension, which can be both continuous or intermittent, headache, tachycardia and sweating. It is most important to standardize the pre-analytical procedures, i.e. control for sampling conditions and adequate choice of parameters in plasma or urine. For screening sensitive methods will be employed (free catecholamines in 24h-urine) and for confirmation of the diagnosis, specific procedures are performed (Clonidine test, MIBG-scintigraphy). The endocrinological and biochemical procedures are completed by molecular genetic techniques in familial pheochromocytoma.
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PMID:[Clinical and endocrine diagnosis of pheochromocytoma]. 933 11

Among all inherited cystic kidney diseases, the commonest are polycystic kidney diseases, which include 2 diseases characterized by their pathological characteristics and their mode of inheritance, namely autosomal dominant or recessive. Autosomal dominant polycystic kidney disease is usually diagnosed in adulthood and is related at least to 2 different genes; PKD1 gene on chromosome 16 accounts for 85% of cases. This frequent disease (1 in 1,000 people) leads to end-stage renal failure in most patients at a mean age of 55 years. Renal ultrasonography allows its detection at an early stage, during childhood or adolescence, and even in utero in some cases. Autosomal recessive polycystic kidney disease, related to a single gene mapped to chromosome 6, is a rare disease, usually diagnosed during infancy because of enlarged kidneys and hypertension. The early occurrence of advanced renal failure is uncommon and only 1/3 of patients require renal replacement therapy during childhood. The term "polycystic kidney disease" should be limited to these 2 diseases; however there are many other inherited conditions including renal cysts like tuberous sclerosis or Hippel-Lindau's disease in adults, and several malformative syndromes in children.
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PMID:[Cystic kidney diseases]. 936 10

Inherited kidney diseases are frequently encountered in adults; the diagnosis is often made and they usually progress to renal failure at this age. Autosomal dominant polycystic kidney disease is the most prevalent. It is one of the most common inherited diseases, involving 1 in 400 to 1,000 individuals. Renal cysts growth is responsible for hypertension and renal failure; polycystic kidney disease represents 6 to 7% of the causes of end-stage renal failure in adults. The disease also encompasses extra-renal localisations, i.e. liver cysts and intra-cranial aneurysms. Multiple renal cysts may be found in other inherited disorders, such as tuberons sclerosis and von Hippel-Lindau disease. Alport syndrome is the second most prevalent inherited kidney disease, characterized by various abnormalities of type IV collagen molecules. Molecular diagnosis is possible in some families, which makes genetic counselling more reliable. Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, hyperuricemic nephropathy) or non-metabolic (nail-patella or Bardet-Biedl syndrome) diseases.
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PMID:[Hereditary kidney diseases in adults]. 936 16

Two cases of adrenal pheochromocytoma associated with renal cell carcinoma are reported. The first case was in a 56-year-old woman who had been treated for hypertension. Computerized tomography (CT) scan revealed a right renal tumor and a right adrenal mass. Endocrinological examination and 131I-MIBG scintigraphy confirmed the diagnosis of pheochromocytoma. Right radical nephrectomy was performed under stable blood pressure. The second case was in a 45-year-old man who had been treated for gastric ulcers. CT scan incidentally revealed a right renal tumor and a left adrenal mass. He was normotensive and endocrinologically normal. Right radical nephrectomy and left adrenalectomy were performed, followed by corticosteroid supplementation. In both cases, histopathological diagnosis was renal cell carcinoma and adrenal pheochromocytoma. Both patients had no clinical evidence for von Hippel-Lindau disease such as tumorous lesions of the central nervous system, spinal cord and retina, and cystic lesions of the kidney and pancreas.
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PMID:[Adrenal pheochromocytoma associated with renal cell carcinoma: report of two cases]. 958 78

Although adrenal tumors detected during pregnancy are extraordinarily rare, the pathophysiologic repercussions of untreated adrenal neoplasms are enormous to both mother and fetus. From our computer-based registry of pregnant patients from 1975 through 1996 (n = 30,246), four cases of adrenal neoplasms associated with pregnancy were identified (0.013%), analyzed, and compared with the current medical literature. Four women ages 36, 29, 22, and 21 years had adrenal neoplasms diagnosed with pregnancy. Patient 1 had an unsuspected pheochromocytoma identified at autopsy. At 27 weeks into her pregnancy the patient suffered a myocardial infarction, and both she and the fetus died. Patient 2 was incidentally found to have adrenal and pancreatic neoplasms on screening abdominal computed tomography for von Hippel-Lindau disease. The study identified a pregnancy. She elected to terminate the pregnancy and underwent resection of both tumors. She died 3 years later of metastatic islet cell cancer. Both of these patients had previously delivered healthy babies, but both pregnancies were complicated by hypertension. Patient 3 had a functional adrenal tumor identified initially by urinary aldosterone studies because of symptoms of severe hypertension, and patient 4 had an adrenal mass diagnosed via ultrasonography at 30 weeks' gestation because of concerns for right-sided pyelonephritis. These two women underwent careful monitoring throughout the remainder of their pregnancies with eventual delivery of healthy babies. Both women later underwent successful operative resection of benign adrenal adenomas. Adrenal neoplasms discovered during pregnancy are rare. The onus, however, is on physicians to consider this diagnosis in pregnant women with hypertension, headaches, or other manifestations of adrenal disorders. Surgical management of identified adrenal lesions is thereafter straightforward. Missing the diagnosis has grave implications for these young women and their fetuses.
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PMID:Adrenal tumors and pregnancy. 988 Apr 29

A 6 year-old boy with von Hippel-Lindau (VHL) disease presented with hypertension due to bilateral pheochromocytomas. At age 13 he developed a renal carcinoma and bilateral paragangliomas. His mother had retinal angiomas, bilateral pheochromocytomas and a cerebellar hemangioblastoma. This unusual presentation illustrates the complexity and difficulties associated with the management of VHL disease.
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PMID:Pheochromocytoma and clear-cell renal carcinoma in a child with von Hippel-Lindau disease: a patient report. 1041 77

Renal cell carcinoma (RCC), although occurring less frequently than prostate and bladder cancer, is actually the most malignant urologic disease, killing >35% of affected patients. Therefore, investigation of the nature of premalignant lesions of the kidney is a relevant issue. Following the most recent histological classification RCC can be subdivided into four categories: conventional RCC; papillary RCC; chromophobe RCC; and collecting duct carcinoma. In contrast to many genitourinary malignancies, premalignant alterations in the kidney are scarcely described. Intratubular epithelial dysplasia has been recognized as the most common precursor of RCC. In analogy to prostatic intraepithelial neoplasia (PIN), the premalignant lesions of the kidney are described as high or low-grade renal intratubular neoplasia. In contrast, precancerous lesions have been described as part of the von Hippel-Lindau syndrome (VHL) where the evolution from a simple cyst to an atypical cyst with epithelial hyperplasia to cystic or solid conventional-type RCC is well documented. Finally, in the genesis of papillary RCC an adenoma-carcinoma sequence has been recognized with specific genetic changes. There are no data on the epidemiology of premalignant lesions of the kidney, but research into the etiology of RCC has been extended substantially. Familial and genetic factors are well documented in VHL disease, in hereditary papillary RCC, in the tuberous sclerosis complex and in familial RCC. Cigarette smoking and obesity are established risk factors for RCC. Hypertension or its medication has also been associated with an increased risk. Among dietary factors an inverse relation between risk and consumption of vegetables and fruit has been found. Occupational exposure to substances such as asbestos and solvents has been linked to an increased risk of RCC. Specific RCC variants have distinctive chromosome alterations and several genes have been implicated in the development of RCC. Loss of material from the 3p chromosome characterizes conventional RCC and the deletion of the VHL suppressor gene plays an important role in the genesis of this RCC variant. In contrast, numerical changes with trisomy of chromosomes 7 and 17 and loss of the sex chromosome are typical changes in papillary tumors, whereas papillary RCC have additional trisomies. Chromophobe RCC is characterized by loss of chromosomes with a combination of monosomies. Less consistent genetic alterations are associated with collecting duct carcinoma. The traditional treatment of RCC is surgery by radical or partial nephrectomy. The latter approach carries a risk of tumor recurrence as a result of unrecognized satellite lesions or premalignant lesions that might have been present at the time of surgery. However, the reported recurrence rates after partial nephrectomy are <1% and therefore the possible presence of premalignant disease does not alter the actual treatment strategy advocated. Although multifocality and bilateral occurrence of RCC are much more likely in cases of papillary RCC, biopsy of the renal remnant or contralateral kidney is not justified even in patients with this tumor type. Conversely, patients with RIN in a partial or radical nephrectomy specimen or in a renal biopsy taken for whatever reason should be subjected to closer follow-up with regularly repeated ultrasound. When an effective chemopreventive regimen becomes available it might be useful for patients with an inherited risk of RCC as well as in those who are at risk of tumor recurrence after intervention. Mass screening with the purpose of detecting RCC at its earliest stage is not recommended at the present time, but screening focused on certain risk groups can be advocated. Further research is needed to identify avoidable risks, develop effective chemoprevention and recognize patients at risk.
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PMID:Precancerous lesions in the kidney. 1114 93

Our objective was to analyze the presentation, diagnostic localization, operative management, histology, and long-term outcome of a single center's experience with pheochromocytomas in children. A chart review was done to identify all operatively managed pheochromocytomas in patients age 18 years or younger. Open and laparoscopic cases were included. We reviewed the presentation, diagnostic imaging, localization, operative management, pathology, and postoperative outcome of these patients. Clinic visits, contact with the tumor registry, and telephone interviews were used for follow-up. From 1973 through 1999, there were 11 children (four males and seven females) with 14 pheochromocytomas. Two (18.2%) patients had bilateral adrenal lesions and one patient had both adrenal and extra-adrenal tumors. Six (54.5%) patients had extra-adrenal lesions. The average age at operation was 14.7 years (range 9-18 years). Nine (82%) patients had significant hypertension at presentation. CT was used to localize the tumor in eight patients and urine catecholamine levels were used to confirm the diagnosis. Two of the cases were associated with inherited syndromes (multiple endocrine neoplasia 2A and von Hippel-Lindau). Ten patients underwent an open operation and one patient had a laparoscopic resection. The average patient follow-up was 9.2 years (range 9 months to 25 years). There were no operative complications and all patients were alive and well at the time of last follow-up. Three patients (27.2%) had tumors with microscopic malignant features. No tumors recurred or had evidence for metastatic spread. We conclude that peak incidence of pheochromocytomas in children is in early adolescence. Resection can be carried out safely with minimal morbidity and mortality. Current best management of this entity includes establishment of a biochemical diagnosis, adequate preoperative blockade, appropriate imaging, and an individualized operative approach based on tumor location and size.
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PMID:Twenty-five-year surgical experience with pheochromocytoma in children. 1114 77

An 11-year-old boy with hypertension was suspected of having bilateral adrenal pheochromocytomas and hyperplasia. Molecular analysis of specific tumor suppressor genes and oncogenes excluded the familial syndromes, von Hippel-Lindau (VHL) disease and multiple endocrine neoplasia (MEN) type 2A. Further evaluation identified a unilateral adrenal pheochromocytoma with a VHL heterozygous somatic mutation (G695A) and loss of the maternal allele at 11p15.5-11p14 exclusively in the tumor tissue. Both reverse-transcriptase polymerase chain reaction and immunohistochemistry confirmed increased expression of IGF2 within the tumoral tissue, relative to a normal control adrenal gland. These results ruled out familial syndromes and suggested that the VHL mutation and the loss of maternal allele on chromosome 11 could have contributed to tumor development.
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PMID:Molecular characterization of a pediatric pheochromocytoma with suspected bilateral disease. 1117 29


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