Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An analysis of 4 cases of the thrombotic thrombocytopenia in children of 4 to 10 years of age is performed. The disease was characterized by fever, purpura, headache and abdominal pains, arterial hypertension, microangiopathic haemolytic anemia, thrombocytopenia, increase of blood urea and serum creatinine, micro-haematuria and proteinuria. The duration of the disease was from 4 days to 7 months. Anuria, gangrene of the ears, scrotum, penis and soft tissues of legs and feet were registered in a 5-year-old patient with a fulminant disease. The cause of death of other patients was heart failure with acute lung oedema, brain haemorrhages and haemorrhagic pancreonecrosis. The diagnosis of the thrombotic thrombocytopenia was confirmed by the finding in the autopsy material of thrombotic microangiopathy of small arteries, veins, arterioles, venules and capillaries in kidneys and other organs and tissues. Kidney damage in fulminant disease is complicated by segmentary cortical necrosis, in a more prolonged disease--by glomerulosclerosis or mesangio-capillary glomerulonephritis.
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PMID:[Thrombotic thrombocytopenic purpura in children]. 180 69

A 23-year-old black female presented with general malaise, headache, high white cell count (136 x 10(9)/L), thrombocytopenia and nephrotic syndrome. She proved to have large granular lymphoproliferative disease with a natural killer cell phenotype and without a clonal rearrangement of the T-cell receptor genes. Renal biopsy demonstrated focal segmental glomerulosclerosis (FSGS). She developed a monophasic neurological illness, and rapidly became comatose six days after the initiation of high dose prednisone therapy. Computerized tomography of the brain showed marked hypodensity of the subcortical white matter. She regained consciousness subsequently, but died six months after her initial presentation with uncontrolled lymphocytosis and renal failure. Autopsy revealed FSGS with glomerular collapse and microcystic dilatation of the renal tubules, and there was perivascular demyelination in the subcortical white matter of the brain. We speculate that lymphokines released by the natural killer cells may have played an important role in the pathogenesis of both the nephrotic syndrome and leukoencephalopathy.
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PMID:Large granular lymphoproliferative disease associated with nephrotic syndrome, renal failure and leukoencephalopathy. 822 Jan 46

All consecutive cases of chronic renal failure (CRF) seen over a twelve-month period (January-December 1992) were evaluated. Those that fulfilled strict diagnostic criteria for hypertension induced CRF (HICRF) were further studied to determine peculiarities of its clinico-pathological features that may render this possibly preventable condition readily identifiable. Twenty one (23.1%) of the 91 cases of CRF satisfied these criteria. There was a male preponderance (M.F.4.3:1). Nocturia was a prominent symptom predating other symptoms of CRF in all. Throbbing frontal headache necessitating significant consumption of analgesic was found in 13(61.9%). Hypertension had been diagnosed in the patients for periods ranging from 2-15 years and compliance to therapy was adjudged poor. Ten smoked cigarette in significant quantities. Hypertension occurred in 8 of the families of the patients. Hypertension was severe in all, with evidence of accelerated phase in 19(90.5%). A majority (71.4%) presented with severe uraemia (serum creatinine > or = 100 umol/l). Target organ damage, evident in cardiomegaly with heart failure occurred in 15, while ultrasonographic features of bilateral shrunken kidneys was seen in all. Blood pressure control was largely inadequate with a combination of 3 drugs. Mortality rate was 51% in the first year. Renal histopathological findings of glomerular sclerosis, malignant arteriolar changes with absence of glomerular cellular proliferation were observed in renal biopsies and 6 autopsy tissues. It is concluded that HICRF is a major cause of mortality; renal failure is often advanced at presentation, and blood pressure is usually in the accelerated phase. Significant cigarette smoking, severe headache necessitating consumption of significant quantity of analgesics, and a family history of hypertension are striking features.
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PMID:Hypertension induced chronic renal failure: clinical features, management and prognosis. 971 16

Mitochondrial DNA plays a crucial role in oxidative production of energy. Thus, defects in mitochondrial DNA can affect virtually all organ systems. The point mutation A --> G at position 3243 in the mitochondrial tRNAleu(UUR) gene is the cause of several distinct types of mitochondrial cytopathy and several clinical phenotypes, including encephalomyopathy with lactic acidosis and stroke-like episodes and maternally inherited diabetes and deafness. This mutation has been recently described also in association with kidney disease, mainly focal and segmental glomerulosclerosis. At present, little is known about the prevalence of this mitochondrial nephropathy, its clinical course and the pathogenesis of glomerular damage. We describe 2 unrelated patients, who presented with proteinuria and progressed to end-stage renal failure. Other clinical features were short stature, severe headache, hearing loss, diabetes mellitus and hypertrophic cardiomyopathy. The main histological finding was an increased number of abnormal mitochondria in tubular cells and podocytes. Analysis of mitochondrial DNA from leukocytes and urine sediment revealed heteroplasmy for the A3243G mutation in tRNAleu(UUR) gene in both patients. Recognition of the characteristic clinical and histological features of the mitochondrial A3243G mutation-associated glomerulopathy will enable correct diagnosis and better management of a disease which is likely to be underdiagnosed.
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PMID:Progressive nephropathy associated with mitochondrial tRNA gene mutation. 1535 73

We describe a man and a woman with Fabry's disease. Renal biopsies showed late and early stages respectively of focal and segmental glomerulosclerosis (FSGS) and vascular changes. Clinically the hemizygous patient had advanced renal disease with nephrotic range proteinuria and serum creatinine 122 micromol/l. The female carrier had minimal albuminuria, borderline GFR with a normal serum creatinine, acroparesthesias, moderate fatigue, tinnitus and headache accompanied by ischemic cerebral lesions. Enzyme replacement therapy (ERT) was initiated according to our Fabry protocol, partly due to the renal morphologic findings. We conclude that FSGS and vascular changes may be an early morphologic finding in Fabry's disease, even in patients with subtle albuminuria. The potential role of FSGS as a marker of progressive renal disease in some Fabry patients is discussed. As FSGS and vascular changes obviously may exist across a wide range of clinical presentations and have potential prognostic implications, we suggest that a renal biopsy should be performed prior to enzyme replacement therapy in all adult Fabry patients with proteinuria of various levels. Efforts should be made to develop a scoring system to evaluate potential histologic markers. Protocol biopsies may have therapeutic implications and may provide valuable information in the evaluation of start and dosing of ERT.
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PMID:Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. 1590 1

A 29- year-old male was admitted because of exertion dyspnea and intense headache. These symptoms were associated with severe hypertension, small multiple areas of cerebral ischemia, thrombocytopenia, prolonged aPTT and renal failure. The diagnostic tests performed during hospitalization resulted in a diagnosis of Primary Antiphospholipids Syndrome. The renal biopsy sample suggested histopathological features of uncommon simultaneous occurrence of antiphospholipids nephropathy and a "collapsing variant" of segmental focal glomerulosclerosis. It is fundamental to be aware that this syndrome is very likely to occur, and therefore to perform antiphospholipids antibodies assessment, since only an anticoagulant therapy proves effective; nevertheless, in view of the pathological renal findings, other therapies such as steroids might be added.
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PMID:[Diagnostic pathway in a case with severe degree of hypertension]. 1706 46

We report on a 12-year-old female patient with steroid-dependent nephrotic syndrome due to focal segmental glomerulosclerosis (FSGS) since her 3rd year of life. She was twice treated with oral cyclophosphamide and received antihypertensive treatment with atenolol and enalapril. After 3 years without any control or therapy, she presented in a reduced general condition with hypertensive crisis and a blood pressure of 220/130 mmHg, headache, vomiting and loss of vision. Additionally, renal insufficiency (creatinine 11.4 mg/dl, urea 157 mg/dl), with oliguria, anaemia and a severe relapse of nephrotic syndrome, was present. Initial treatment with steroids, albumin-furosemide infusions and antihypertensive drugs was unsuccessful, and dialysis treatment was necessary. Renal biopsy showed an advanced stage of the known FSGS and, surprisingly, a thrombotic microangiopathy. Further diagnostic investigations revealed no signs of haemolytic-uraemic syndrome, but echocardiography showed left ventricular hypertrophy, and hypertensive retinopathy grade 3 was diagnosed, making severe hypertension the most likely reason for the thrombotic microangiopathy. While adequate antihypertensive treatment led to regress of left ventricular hypertrophy and hypertensive retinopathy, renal function did not recover, and the patient remained dialysis-dependent. In conclusion, severe hypertension in chronic kidney disease can lead to target organ damage and thrombotic microangiopathy, which may further worsen renal function.
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PMID:Thrombotic microangiopathy as a complication in a patient with focal segmental glomerulosclerosis. 1788 57

Reversible posterior leukoencephalopathy syndrome (RPLS) is a neurological syndrome characterized by headache, seizures, and visual loss, often associated with an abrupt increase in blood pressure. It was first described by Hinchey and colleagues in 1996 when they described a case series. RPLS has been described in number of medical conditions, renal dysfunction being one of them. Prompt diagnosis and therapy with antihypertensives, anticonvulsants, removal of any offending medication, and treatment of associated disorder are essential because early treatment might prevent progression to irreversible brain damage. Here, we report a case of young man with focal segmental glomerulosclerosis (FSGS) and heavy proteinuria, who developed classical, clinical, and neurological features of RPLS with complete recovery.
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PMID:Reversible posterior leukoencephalopathy syndrome in a patient of FSGS with heavy proteinuria. 2066 6

Posterior reversible encephalopathy syndrome (PRES) is a rare syndrome characterized by reversible vasogenic edema in the posterior hemispheres. PRES is most often attributed to primary hypertension, pre-eclampsia, and neurotoxicity secondary to immunosuppressants such as cyclosporine. Renal disease is an infrequent cause of PRES with a majority of cases occurring in adults with complete renal failure or in pediatric cases with underlying renal parenchymal disease and concurrent immunosuppressive therapy. Typical symptoms include seizure, headache, altered mental status, and visual disturbances. PRES is rarely associated with cerebral hemorrhage, and even less so with subarachnoid bleeds. Herein we report on a 25-year-old female with focal segmental glomerulosclerosis who developed PRES. The patient's presentation was more severe as she presented with seizure, nephrotic syndrome, and subarachnoid hemorrhage. Computed tomography and magnetic resonance imaging with concurrent symptoms led us to the final diagnosis. The patient was treated with antihypertensives, diuretics, and corticosteroids and follow-up imaging revealed resolution of PRES. Our case illustrates that underlying kidney disease even without immunosuppressive agents should be added to the list of possible causes for PRES. Symptoms are reversible with treatment of underlying cause or offending agent.
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PMID:Posterior reversible encephalopathy syndrome in a woman with focal segmental glomerulosclerosis. 2596 Jun 54

Hypertension is the single greatest contributor to human disease and mortality affecting over 75 million people in the United States alone. Hypertension is defined according to the American College of Cardiology as systolic blood pressure (SBP) greater than 120 mm Hg and diastolic blood pressure (DBP) above 80 mm Hg measured on two separate occasions. While there are multiple medication classes available for blood pressure control, fewer than 50% of hypertensive patients maintain appropriate control. In fact, 0.5% of patients are refractory to medical treatment which is defined as uncontrolled blood pressure despite treatment with five classes of antihypertensive agents. With new guidelines to define hypertension that will increase the incidence of hypertension world-wide, the prevalence of refractory hypertension is expected to increase. Thus, investigation into alternative methods of blood pressure control will be crucial to reduce comorbidities such as higher risk of myocardial infarction, cardiovascular accident, aneurysm formation, heart failure, coronary artery disease, end stage renal disease, arrhythmia, left ventricular hypertrophy, intracerebral hemorrhage, hypertensive enchaphelopathy, hypertensive retinopathy, glomerulosclerosis, limb loss due to arterial occlusion, and sudden death. Recently, studies demonstrated efficacious treatment of neurological diseases with deep brain stimulation (DBS) for Tourette's, depression, intermittent explosive disorder, epilepsy, chronic pain, and headache as these diseases have defined neurophysiology with anatomical targets. Currently, clinical applications of DBS is limited to neurological conditions as such conditions have well-defined neurophysiology and anatomy. However, rapidly expanding knowledge about neuroanatomical controls of systemic conditions such as hypertension are expanding the possibilities for DBS neuromodulation. Within the central autonomic network (CAN), multiple regions play a role in homeostasis and blood pressure control that could be DBS targets. While the best defined autonomic target is the ventrolateral periaqueductal gray matter, other targets including the subcallosal neocortex, subthalamic nucleus (STN), posterior hypothalamus, rostrocaudal cingulate gyrus, orbitofrontal gyrus, and insular cortex are being further characterized as potential targets. This review aims to summarize the current knowledge regarding neurologic contribution to the pathophysiology of hypertension, delineate the complex interactions between neuroanatomic structures involved in blood pressure homeostasis, and then discuss the potential for using DBS as a treatment for refractory hypertension.
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PMID:Potential Deep Brain Stimulation Targets for the Management of Refractory Hypertension. 3085 96


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