Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Various renal abnormalities have been reported in Alagille's syndrome (arteriohepatic dysplasia), usually as single case reports. The renal findings at autopsy of four patients with Alagille's syndrome, ranging in age from 4 1/2 months to 7 years, 2 of whom had evidence of renal dysfunction, are described and are compared with kidneys from patients with other cholestatic liver diseases of childhood. Two of the Alagille's patients had histologic findings suggestive of membranous nephropathy and special stains revealed accumulation of lipid in the glomerular and tubular basement membranes. Immunofluorescence of 1 revealed extensive accumulation of IgG and IgM. One patient had medullary cysts and mild interstitial fibrosis, and the fourth had a large subcapsular cyst and mild tubulointerstitial nephritis. All 4 cases, when examined with the electron microscope, revealed varying degrees of basement membrane thickening, splitting, and vacuolation with dense osmiophilic particles, most prominent in the patients with membranous nephropathy. These ultrastructural findings did not correlate with the degree of hyperlipidemia, but rather with the patient's age, and were also observed in other cholestatic diseases. The findings suggest that Alagille's syndrome is frequently associated with renal abnormalities, including lipid deposition, which may in some instances, lead to clinically significant renal impairment.
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PMID:Renal histopathology in Alagille's syndrome. 332 21

From March 1960 through January 1968, 71 patients underwent operations for renovascular hypertension at our center. There were three operative deaths in 94 procedures. Primary nephrectomy was performed in 26 patients. Attempted revascularization of 62 kidneys was successful in 46 (74%). In 13 (87%) of the 15 cases considered operative failures, the patients underwent either secondary nephrectomy (11) or repeat revascularization (two). Based on the results of the final operation, initial blood pressure response (1 to 6 months postoperatively) in the surviving patients indicated 44% cured (30 patients), 40% improved (27), and 16% unchanged (11). The sequential clinical, functional, and anatomic follow-up evaluations to time of death or to date are available in 66 of the 68 patients (97%) who survived operation and form the basis of this report. Fifteen- to 20-year arteriographic follow-up in 16 patients revealed one late neointimal anastomotic stenosis and an additional three aortic suture line false aneurysms in Dacron aortorenal grafts. During this 15- to 23-year follow-up, 71% of atherosclerotic (AS) patients and 23% of fibromuscular dysplasia (FMD) patients died. Cardiovascular (CV) morbid events occurred in 77% of AS patients and in 19% of FMD patients. The cumulative incidence of death and CV morbid events during follow-up is examined by Kaplan-Meier life tables and Cox's proportional hazards regression analysis in these respective groups to identify preoperative markers predictive of longer event-free survival in relation to blood pressure benefit by operation (for example, focal vs. diffuse AS, presence of cerebrovascular disease, ischemic heart disease, left ventricular hypertrophy seen by electrocardiography, azotemia, smoking, diabetes, and hyperlipidemia).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Operative management of renovascular hypertension. Results after a follow-up of fifteen to twenty-three years. 648 67

We report a 20-year-old patient with arteriohepatic dysplasia (Alagille's syndrome) who developed progressive renal failure associated with extensive renal lipidosis. A renal biopsy showed diffuse thickening of glomerular basement membrane mimicking idiopathic membranous glomerulonephritis on light microscopy. Electron microscopy, however, demonstrated numerous intramembranous and mesangial lipid deposits, quite similar to those described in familial lecithin cholesterol acyltransferase deficiency. We believe the renal lipidosis developed secondary to hyperlipidemia associated with longstanding intrahepatic cholestasis. This case illustrates that extensive lipid deposition in the glomerular basement membrane may occur in patients with arteriohepatic dysplasia, and it may lead to progressive renal failure.
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PMID:Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome). 715 49

Hyperlipidemia and lipoprotein abnormalities are often encountered in patients with nephrotic syndrome or chronic renal disease and also in those undergoing haemodialysis and with renal transplant. Even though the significance of lipid deposition in renal tissue and the role of lipoproteins in the pathogenesis of renal disease in man is unclear, experimental and clinical data indicate a possible damaging effect of a disturbed lipid metabolism on the kidney. In humans, glomerular lipid deposition is observed in genetic diseases such as Fabry's disease, lecithin:cholesterol acyltransferase activity (LCAT) deficiency and arteriohepatic dysplasia, and in diseases with acquired disturbance of lipid metabolism such as nephrotic syndrome and cholestatic liver disease. Studies on animals with lupus nephritis, aminonucleoside nephrosis, reduced renal mass, diabetes mellitus or systemic hypertension have shown that cholesterol can increase the incidence of glomerulosclerosis. As most of these studies have been performed in the rat, which has a different lipoprotein profile to that of man, these results should be carefully interpreted with regard to their relevance for humans. In vitro cell culture studies on human glomerular cells have given some preliminary insights into the cellular mechanisms of lipid induced glomerular damage. Apo E-containing lipoproteins, which are pathologically elevated in many renal diseases, are avidly taken up by human mesangial cells. These cells seem to play a central role in the initiation of glomerulosclerosis by inducing proliferation and production of excess extracellular matrix. Lipoproteins are able to stimulate DNA synthesis in these cells, and increase the synthesis of mitogens and extracellular matrix protein. The pathogenic role of oxidized lipoproteins has not yet been defined. Human mesangial cells do not seem to take up these modified lipoproteins. However, macrophages infiltrate glomeruli and may constitute the stimulus for the generation of minimally modified lipoproteins and their cellular uptake. The data from animal experiments suggest that treatment that corrects hyperlipidemia may have an ameliorative effect on renal function. Thus, there are strong indications that lipoproteins may play a critical role in mediating the development of glomerulosclerosis.
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PMID:The role of lipids in nephrosclerosis and glomerulosclerosis. 794 52

Renal transplant recipients have an increased risk of developing skin cancers, which are often multiple and aggressive. Frequently, these tumours develop on a background of widespread epidermal dysplasia. Systemic retinoids are known inhibitors of skin cancer but reports of their use in renal transplant patients are limited. We describe our experience using 0.3 mg/kg daily of acitretin in 16 patients over a 5-year period. Overall, there was a significant reduction in the number of new tumours excised in 12 of 16 patients during treatment compared with the same pretreatment interval. A significant chemoprophylactic effect was shown for up to 4 years of treatment. Patients with five or more tumours prior to acitretin benefited most. Two patients discontinued treatment because of side-effects and two patients developed hyperlipidaemia. Two patients with end-stage graft failure proceeded to haemodialysis. The introduction of low-dose acitretin proved to be a useful strategy in the long-term reduction of skin cancer in renal transplant recipients with multiple skin cancers and extensive epidermal dysplasia.
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PMID:Skin cancer chemoprophylaxis in renal transplant recipients: 5 years of experience using low-dose acitretin. 1023 16

An 18-year-old woman developed subacute transverse myelopathy with renovascular hypertension, hyperlipidemia, and proteinuria. Spinal magnetic resonance imaging(MRI) showed an intra-spinal cord lesion with severe spinal cord swelling at the C 2-Th 2 level. Increased plasma and cerebrospinal fluid interleukin-8(IL-8) levels and the presence of serum antineutrophil cytoplasmic antibody(ANCA) suggested the existence of an ischemic lesion due to vasculitis. Administration of corticosteroids ameliorated the clinical symptoms and MRI findings. Renovascular angiogram revealed the presence of fibromuscular dysplasia(FMD) at the left renal artery but no malformation was found at the cervical arteries. We discussed the possibility of relationships between myelopathy, FMD, IL-8, and ANCA.
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PMID:[Transverse myelopathy with renovascular hypertension caused by fibromuscular dysplasia]. 1159 81

Ischemic renal disease (IRD) is a frequent cause of end-stage renal disease. Its prevalence is mainly known from autopsy or retrospective arteriographic studies. This prospective study was conducted in 115 subjects selected from 732 patients with advanced chronic renal failure (CRF). Only patients with clinical features suggestive of IRD were selected for this study. In addition to detailed clinical and laboratory evaluation, captopril renal scintigraphy was performed in selected cases. All subjects underwent renal arteriography and all were followed up for 18.4 +/- 11.4 months. Renovascular disease was seen in 15 patients and significant bilateral renal artery disease leading to IRD was observed in 13 (11.3%). Hence the prevalence of IRD in the advanced CRF patients was 1.7%. The majority of patients with IRD (8 [61%]) were above 46 years of age and there were more men than women (10:3). Atherosclerotic renovascular disease was the most common (10 [77%]), even though arthritis (1 [7.6%]), and fibromuscular dysplasia (2 [15.3%]) were also observed. Serum creatinine at time of presentation was significantly higher in patients with IRD (784 +/- 292, p = 0.043) compared to those who did not have IRD (359 +/- 126). Corrective procedures were performed in 5 patients. After treatment the improvement in serum creatinine in patients with IRD at 3 and 6 months (166 +/- 32 and 173 +/- 47, respectively) was significantly different (p < or = 0.05) compared to those who were not treated (610 +/- 194 and 645 +/- 220, respectively). Hyperlipidemia, coronary artery disease and peripheral vascular disease were more prevalent in patients who had IRD compared to those with renal failure. The incidence of diabetes mellitus were similar in both groups. This study denotes a lower prevalence of IRD in the advanced CRF population; they had more severe renal failure at presentation but specific corrective treatment delayed progression of renal disease significantly.
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PMID:Ischemic renal disease in Kuwait. 1186 39

The Hutchinson-Gilford progeria syndrome (HGPS) is a very rare, but well known inherited condition of uncertain etiology in which features of premature and accelerated aging are mixed with those of delayed maturity and immaturity. Appearance at birth and birth weight are usually normal but growth typically slows after 1 year. All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopecia, sculptured nose, prominent scalp veins, loss of subcutaneous fat, prominent joints, hyperlipidemia and early arteriosclerosis characterize the syndrome. Skeletal compromise includes hypoplasia and dysplasia, persistent open fontanelles, severe osteolysis and pathological fractures. There are no intellectual deficits in patients with this syndrome, and intelligence is unaffected. The life span in progeria is shortened by early arteriosclerosis. In this case, we review the characteristics of the severe osteolytic compromise in distal arms and limbs and bone deformities in a case of an 8-year-old girl, who was admitted to our hospital with short stature and loss of hair. On examination, the child had the major clinical criteria for HGPS as well as severe alterations in osteogenesis, including craniofacial disproportion, short and sculptured nose, delayed dentition, severe scoliosis, clavicular deformity and asymmetrical and hypoplastic arms and legs. Generalized osteopenia and severe osteolytic compromise in distal extremities were found by X-ray examination. In summary, we report the case of an 8-year-old girl who meets the diagnostic criteria for HGPS with severe involvement of her bones and joints with a review of the current literature and a possible therapeutic approach.
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PMID:Severe bone changes in a case of Hutchinson-Gilford syndrome. 1238 48

Inherited metabolic disorders contribute importantly to adverse cardiovascular outcomes and affect all tissue types. This review summarizes some of the more important aspects. In the venous system, heterozygosities for the factor V Leiden and prothrombin 20210G > A mutations are common and occur in 4% and 1%, respectively, of caucasians. They confer a 2- to 3- fold increase in risk of venous, but not arterial, thrombosis. Marfan syndrome affects the systemic circulation and has a population prevalence of about 1 in 4000. The more than 200 mutations responsible are in the fibrillin-1 gene (15q21.1) and mediate the characteristic skeletal, lens and aortic changes. There are two potentially lethal inherited disorders of cardiac conduction, the long QT and Brugada syndromes. The prevalence for each is about 1 in 10,000. On the other hand, autosomal dominant hypertrophic cardiomyopathies are relatively common, at 1 in 500, but with variable penetrance. Mutations are in the sarcomere proteins and more than 140 are known. Hypertrophic cardiomyopathy may be confused with Fabry disease, for which effective treatment is now available. Mutations in several genes have been shown to produce dilated cardiomyopathy in the young, but there is as yet no specific treatment. In fatty acid oxidation disorders, arrhythmias and cardiomyopathy occur during acute decompensation. An important recently established cause of cardiomyopathy is carnitine transporter defect; it is treated effectively with oral carnitine. The autosomal dominant arrhythmogenic right ventricular dysplasia occurs with a prevalence of about 1 in 15,000 and presents with arrythmias and a dilated right ventricle. The mutations responsible have been mapped to chromosomes 1, 2, 10 and 14. Lysosomal storage disorders, the Ehlers-Danlos syndrome and other connective-tissue disorders affect cardiac valves and vessels. In addition to the relatively common inherited lipoprotein disorders familial hypercholesterolaemia and familial combined hyperlipidaemia, an important dominantly inherited lipid variable contributing to coronary risk is lipoprotein(a). The gene is localized to chromosome 6 and there is full expression in childhood. Elevated lipoprotein(a) levels contribute to the occurrence and severity of early-onset coronary disease and add to the already enhanced risk in patients with familial hypercholesterolaemia.
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PMID:Overview of inherited metabolic disorders causing cardiovascular disease. 1288 64

Schimke-immuno-osseous dysplasia (SIOD) is a multisystem disorder caused by a mutation of the chromatin remodeling protein. The main clinical findings are spondyloepiphyseal dysplasia with disproportional growth deficiency, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Transitory ischemic attacks due to vaso-occlusive processes are still an untreatable and life-limiting complication in patients with SIOD. The underlying pathophysiology of vaso-occlusive processes in SIOD is unclear. We report the clinical and pathological findings of the eldest published patient with the severe form of SIOD, who died at the age of 23 years due to pulmonary hypertension with subsequent right heart failure. The autopsy revealed a severe generalized atherosclerosis including the brain, heart, and pulmonary arteries. However, the kidney that was transplanted at the age of 5 years showed a good graft function without glomerular sclerosis and with only minimal nephrosclerosis on histology. Thus, the absence of severe vaso-occlusive processes in the transplanted organ and in the severely atherosclerotic host may indicate that the vaso-occlusive processes in SIOD are not caused by post-transplant cardiovascular morbidity such as arterial hypertension and hyperlipidemia. Instead, vascular factors of the host such as endothelial dysfunction may explain the pathophysiology of atherosclerosis in SIOD.
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PMID:Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. 1505 43


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