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 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Once viewed as hopelessly incurable disorders and the dustbin for careers in academic medicine, the polycystic kidney diseases have emerged as prime targets of pathophysiologic study and palliative and definitive treatment in the era of molecular medicine. Polycystic kidney disease (PKD) may be hereditary or acquired. The major inherited types are autosomal dominant (AD) and autosomal recessive (AR). ADPKD is caused by at least two (and possibly three) genes located on separate chromosomes, while ADPKD-1 is due to a 14 kb transcript in a duplicated region on the short arm of chromosome 16 very near the alpha-globin gene cluster and the gene for one form of tuberous sclerosis. ADPKD-2 has been assigned to the long arm of chromosome 4. ARPKD is due to a mutated gene on both copies of the long arm of chromosome 6. Cysts originate in renal tubules. Proliferation of tubule epithelial cells modulated by endocrine, paracrine, and autocrine factors is a major element in the pathogenesis of renal cystic diseases. In addition, fluid that is abnormally accumulated within the cysts is derived from glomerular filtrate and, to a greater extent, by transepithelial fluid secretion. Abnormal synthesis and degradation of matrix components associated with interstitial inflammation are additional features in the pathogenesis of renal cystic diseases. The ADPKD genotypes are characterized by bilateral kidney cysts, hypertension, hematuria, renal infection, stones, and renal insufficiency. ADPKD is a systemic disorder; cysts appear with decreasing frequency in the kidneys, liver, pancreas, brain, spleen, ovaries, and testis. Cardiac valvular disorders, abdominal and inguinal hernias, and aneurysms of cerebral and coronary arteries and aorta are also associated with ADPKD. Treatment is supportive: dietary regulation of salt and protein intake, control of hypertension and renal stones, and dialysis and transplantation at the end stage. ARPKD is a relatively rare disease that causes clinical symptoms at birth, with significant mortality in the first month of life. The cysts develop primarily in the collecting ducts because of a failure in the maturation process. Early complications include Potter's syndrome; excessive size of the kidneys, causing respiratory dysfunction; hypertension; and renal insufficiency. Hepatic fibrosis is an associated extrarenal problem that results in significant morbidity in young children and adolescents. Treatment includes supportive care, dialysis, and renal transplantation. Acquired cysts (solitary/simple) are commonplace in older persons. Multiple cysts may be seen in association with potassium deficiency, congenital disorders, metabolic diseases, and toxic renal injury.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Polycystic kidney disease: etiology, pathogenesis, and treatment. 758 86

Renal angiomyolipoma is common in the tuberous sclerosis complex (TSC), the classic features of which are facial angiofibroma, seizures, and mental retardation. We report a family with three affected members demonstrating the wide spectrum of TSC-associated lesions ranging from asymptomatic findings to life-threatening complications. The predominant symptoms of the index patient were hypertension and mild renal insufficiency at age 48, resulting in end-stage renal failure at age 63 due to giant bilateral angiomyolipoma of the kidneys. The two TSC-affected siblings had died years previously, one from pulmonary lymphangioleiomyomatosis and the other during an epileptic state; the latter had situs inversus totalis as another remarkable finding. The diagnosis of TSC may be overlooked if CNS symptoms are absent and if cutaneous lesions are masked by cosmetic procedures, as occurred in the index case. Chronic renal failure due to angiomyolipoma is not widely known to clinical nephrologists, but develops in approximately 15% of TSC patients. Displacement of functional renal parenchyma by abnormal tissue appears to be the major pathogenetic mechanism leading to end-stage renal failure. Angiomyolipomas can be diagnosed from this characteristic sonographic pattern and the demonstration of fatty tissue in CT or MRI. Multiple renal cysts are also common in TSC. Therefore TSC should be considered in the differential diagnosis of polycystic kidney disease.
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PMID:Tuberous sclerosis complex with end-stage renal failure. 779 29

A case of splenic hamartoma is presented that was incidentally discovered in a 55-year-old male during a work-up to determine the aetiology of hypertension. Diagnostic imaging procedures were suggestive of a splenic hamartoma. Histologically, this was found to be of the pulposal type with haemosiderin and calcification foci and many eosinophil leukocytes. The patient had an uneventful recovery. A review of the pertinent references is included, together with a brief discussion about the occurrence of splenic hamartoma in the context of tuberous sclerosis.
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PMID:Splenic hamartoma: a case report. 863 23

Between 1980 and 1992, 10 children affected by tuberous sclerosis and intraventricular subependymal giant cell astrocytomas were surgically treated at the Institute of Neurosurgery, Section of Pediatric Neurosurgery, Catholic University of Rome. Nine patients presented with signs and/or symptoms of intracranial hypertension; in all of them the neuroradiological investigations demonstrated the presence of a space-occupying lesion in the region of the foramen of Monro with secondary ventricular dilation. In the remaining patient, a 5-month-old male infant, an intraventricular mass was discovered by means of an ultrasound examination performed after the first epileptic fit. Three patients underwent a ventriculoperitoneal CSF shunt as first surgical procedure; in 2 of them it was subsequently necessary to remove the intraventricular tumor due to the frequent occlusion of the CSF shunt device. Seven subjects underwent the direct surgical excision of the lesion. In all of them the procedure resulted in the control of the associated hydrocephalus. On the basis of such an experience, the authors conclude that the surgical removal of the intraventricular tumors in patients with tuberous sclerosis and hydrocephalus is the most appropriate treatment. In fact, in the series considered here, the removal of the tumor was not accompanied by significant morbidity, and was followed by improvement in clinical conditions. In particular, in cases in whom the occurrence of hydrocephalus was associated with a worsening in the seizure disorder, the tumor removal and the correction of intracranial hypertension was followed by a significant reduction in frequency or even by the disappearance of the seizures. However, in no case presenting with mental impairment was a significant improvement observed in mental performances as a consequence of the surgical treatment.
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PMID:On the treatment of subependymal giant cell astrocytomas and associated hydrocephalus in tuberous sclerosis. 875 Dec 91

Tuberous sclerosis is an autosomal dominant disease characterized by the development of multiple hamartomas which involve mainly the skin, the brain, the kidneys, and the heart. Vascular involvement is uncommon, with essentially several reports of aortic aneurysm. The present case concerns a two and a half year-old girl with known tuberous sclerosis, who underwent a graft replacement of an abdominal aortic aneurysm revealed by hypertension, associated with a right nephrectomy for multiple renal angiomyolipomas and cysts. Microscopic examination of the aortic aneurysm and the right renal artery showed fibromuscular dysplasia. This case and the rare previous reports emphasize the possible vascular involvement in tuberous sclerosis, and suggest that arterial fibromuscular dysplasia may represent an additional manifestation of the disease.
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PMID:[Arterial fibromuscular dysplasia and Bourneville's tuberous sclerosis]. 876 80

Abdominal aortic aneurysms are rare in children. Causes include mycotic aneurysms, vasculitides (eg, Takayasu's arteritis), connective tissue diseases (eg, Marfan's syndrome, Ehlers-Danlos syndrome, and tuberous sclerosis) and traumatic false aneurysms. Four cases are described. Case 1 was a 12-year-old boy who presented with an acute unheralded rupture of the subdiaphragmatic aorta accompanied by lower limb paralysis and ischemia. Attempted repair failed because of extensive friability of the large arteries. Histological evaluation confirmed cystic medial necrosis despite Marfanoid phenotype. Cases 2 and 3 were boys aged 12 and 11 with Takayasu's arteritis who presented with hypertensive encephalopathy and heart failure. Although both had involvement of the origins of the renal arteries, one aneurysm was predominantly suprarenal and the other infrarenal. Currently both children are being managed successfully with antihypertensive therapy. Case 4 was a 5-year-old girl who presented with hypertension and a pulsatile abdominal mass after treatment of infective endocarditis 18 months previously. Arteriography and three-dimensional computed tomography confirmed an aneurysm (6 x 5 x 4 cm) arising from the aorta and involving the right renal artery. Aneurysmectomy, removal of a small ischemic right kidney, and Gore-Tex grafting resulted in cure of the hypertension and uneventful recovery. The present series confirms that rupture is a fatal complication, renovascular complications are common, and medical control of hypertension is an essential part of management. Management strategies need to be highly individualized, and may be successful without surgical intervention. Close clinical and ultrasound follow-up of those managed nonoperatively is essential.
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PMID:Abdominal aortic aneurysms in children. 898 73

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

We report a case of tuberous sclerosis associated with bilateral renal angiomyolipomas (AMLs), pulmonary lymphangioleiomyomatosis (LAM) and subungual fibroma of hands and feet. A 42-year-old woman who was diagnosed as tuberous sclerosis at the age of 18 complained of left flank pain and abdominal fullness. Bilateral renal AMLs were pointed out when complete examinations were performed for hypertension at the age of 32. She suffered from severe left flank pain and abdominal distension due to the left renal tumor. Left nephrectomy and excision of the renal hilar tumor were performed. The left renal tumor weighed 1120 g, the perirenal space was filled with the tumor. histopathological diagnosis of the left renal tumor and renal hilar tumor was AML. In our case, bilateral pneumothorax appeared, and chest CT scan revealed bilateral multiple pulmonary cysts. Histopathological diagnosis of pulmonary cysts was LAM. Other complications of our case are intracranial calcification and adenoma sebaceum.
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PMID:[Tuberous sclerosis associated with renal angiomyolipoma, pulmonary lymphangioleiomyomatosis and subungual fibroma: report of a case]. 984 2

The case of a 5-month-old boy with tuberous sclerosis and West syndrome is reported. Tonic spasms were noted from the age of 4 months. High-dose pyridoxal phosphate could not control the seizures completely. Very short and low-dose adrenocorticotropic hormone (ACTH) therapy (i.e. 0.011 mg/kg per dose, 12 times in 20 days) controlled the seizures, while pyridoxal phosphate was on. Early tapering of ACTH was successfully done while abnormal electroencephalogram (EEG) findings remained. Although side effects such as hypertension and brain shrinkage were transiently observed, both the cognitive and seizure prognoses were excellent at the age of 3 years and 2 months. The good response to a small dosage of ACTH might be due to some responsiveness of the high-dose pyridoxal phosphate and the underlying cause of tuberous sclerosis with normal development before onset. The present case illustrates that the duration and dosage of ACTH therapy in West syndrome should be modified according to the individual's requirements.
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PMID:A case of West syndrome well controlled by very short and low-dose ACTH therapy. 1020 Dec 87

The classical localisation of chromaffin cell tumours is intra-adrenal. Ectopic or multiple tumours are not rare and are commonly observed in children. The authors report a case of ectopic pheochromocytoma with a double localisation in a 14 year old child (renal pedicle and right retropleural space), in which surgical ablation resulted in an immediate and sustained correction of the hypertension. Hypertension recurred 24 years later and a classical right adrenal pheochromocytoma was demonstrated by methyl-iodo-benzylguanidine (M.I.B.G.) scintigraphy and abdominal CT scan. Right adrenalectomy resulted in normalisation of the hypertension once again without antihypertensive therapy with a follow-up of three years. Regular follow-up is necessary after ablation of a pheochromocytoma, especially in children, even in the absence of a phacomatosis or multiple endocrine neoplastic syndromes.
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PMID:[Right adrenal recurrence of pheochromocytoma discovered 24 years after ablation of two ectopic pheochromocytomas]. 1022 Nov 49


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