Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The very rare case of a non-cirrhotic patient with multiple intrahepatic portosystemic and arteriosystemic vascular shunts, presenting with hyperammoniaemic type B encephalopathy and hypoalbuminaemia due to proteinuria, is reported. The correct diagnosis, suspected by abdominal ultrasound and colour-Doppler imaging, was confirmed by hepatic and superior mesenteric angiography. A comparison with the few similar cases existing in the literature is offered.
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PMID:Multiple intrahepatic vascular shunts causing hyperammoniaemic encephalopathy in a patient without liver cirrhosis. 1605 95

Herein, we report on a paediatric patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who was hospitalized for acute on chronic renal insufficiency, seizures and deterioration of the level of consciousness. She also had hypertension, hypothyroidism and nephrotic range proteinuria. Kidney biopsy revealed many sclerotic glomeruli and focal segmental glomerulosclerosis (FSGS). Glomerulopathy is rare in patients with MELAS, and FSGS has been reported only in a few patients. The histopathological features of the renal biopsy suggested that the aetiology of the FSGS may have been secondary to chronic renal injury rather than from a primary immunologic cause. Moreover, our case is unique in that, the coexistence of MELAS, hypothalamic hypothyroidism and FSGS has not been reported in the past. The purpose of this report is to increase the awareness of health-care professionals, especially in the fields of paediatrics, neurology, endocrinology and nephrology, regarding the manifestations and complications of MELAS.
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PMID:Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient. 1729 89

Just after Caesarean section for twin pregnancy and feto-pelvic dysproportion, a woman presented severe headaches and arterial hypertension, then blurred vision, then generalised seizures. There were no oedematous syndrome, proteinuria was negative, ASAT were 1.5 N and platelet count was 120,000/mm(3). Cerebral CT-scan was normal. Posterior reversible encephalopathy syndrome (PRES) was diagnosed on MRI. A second MRI performed at day 9 showed complete regression of cerebral lesions, while patient was taking anti-hypertensive and antiepileptic drugs. PRES has to be evoked in post-partum central neurological symptoms, even in absence of classical sign of pre-eclampsia, like proteinuria. PRES and eclampsia share probably common physiopathological pathways. There management and prognosis seems identical.
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PMID:[Isolated severe neurologic disorders in post-partum: posterior reversible encephalopathy syndrome]. 1757 73

Transcription-coupled repair of endogenous DNA damage appears crucial for the maintenance of the central and peripheral nervous systems. Ercc1 is essential for nucleotide excision repair and is also involved in recombination repair and the repair of interstrand cross-links. We have investigated the neurological phenotype of Ercc1-deficient mice where the liver dysfunction has been corrected by an Ercc1 transgene controlled by a liver-specific promoter. We observed poor coordination, ataxia and loss of visual acuity, but saw no evidence of the anticipated histopathological neurodegeneration, or of abnormal neuromuscular junctions. Instead we observed uraemic encephalopathy, a brain disease resulting from kidney failure. This diagnosis was supported by histopathological signs of kidney disease, as well as proteinuria. When we examined archival sections from neural-specific Ercc1 knockout mice, which showed the same reduced growth and died at the same age as the liver-corrected Ercc1 knockouts, we found no evidence of kidney pathology or encephalopathy. Thus, while some aspects of the Ercc1-deficient phenotype are indicative of functional neurodegeneration, we obtained no structural evidence for this. The structural changes observed in the brains of liver-corrected Ercc1 knockouts appear to be a secondary consequence of kidney failure arising from Ercc1 deficiency.
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PMID:A neurological phenotype in mice with DNA repair gene Ercc1 deficiency. 1822 31

A 36-year-old primigravida with a history of temporal lobe epilepsy presented at 25 weeks of pregnancy with generalized tonic clonic seizures. The clinical picture was confused with eclampsia because of rising blood pressure and proteinuria. Clinical investigations, which included a lumbar puncture, were carried out to rule out an infective cause for the seizures. A computed tomography of the brain was performed for evidence of intracranial hemorrhage. The patient was intubated and ventilated in the intensive care unit. The labile blood pressure settled in 2 days, and the transient heavy proteinuria also resolved after 3 days. Eclampsia would have warranted operative delivery of the preterm fetus with the attendant problems of prematurity. Delivery would have been hazardous in such an acutely unwell patient. The management also would have required magnesium sulfate with its potential for toxicity. Transient proteinuria may occur in status epilepticus. The blood pressure can be labile during epileptic seizures and, in the absence of an intracranial hemorrhage, generally settles without treatment after control of the seizures. This case highlights the importance of differentiating eclampsia in a patient with known epilepsy that may also mask other disease entities such as intracranial hemorrhage, meningitis, or encephalopathy. We have also discussed the importance of various signs associated with eclampsia and their clinical significance. The differential diagnosis of seizures in pregnancy are broad as symptoms of the various disease entities including eclampsia, intracranial hemorrhage, status epilepticus, meningitis, stroke overlap creating a dilemma in an acute emergency. We present a case whereby the clinical picture of status epilepticus was confused with eclampsia because of the presence of a rising blood pressure and proteinuria.
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PMID:Proteinuria in status epilepticus or eclampsia; a diagnostic dilemma. 1949 73

The aim of this study was to define the current demographic, clinical and prognostic characteristics of acute post-streptococcal glomerulonephritis (APSGN) in French Polynesia and to compare these features with those of other populations. Fifty children, all of whom were <15 years old and had been admitted to the Territorial Hospital of Papeete for APSGN between January 2005 and December 2007, were retrospectively enrolled in the study. Diagnostic criteria were microscopic or macroscopic haematuria, decreased C3 fraction of the complement and evidence of recent streptococcal infection. The annual incidence was 18 cases per 100,000 children <15 years of age in 2007. Most of the children (98%) enrolled in the study were of Polynesian ethnic origin, 27 were male (54%), and the average age at presentation was 6.7 years. Signs of previous respiratory infections were clearly evident in 40% of the children. Most of the patients presented during the rainy season, correlating with the relatively high incidence of skin infections at this time. The majority of patients had proteinuria (98%), with 25% having proteinuria in the nephrotic range (proteinuria/urinary creatinine >3 g/g). The presentation was severe in 22% of the children (congestive cardiac failure, severe hypertension and/or encephalopathy), and renal failure was an initial presenting symptom in 43.7%. The C3 fraction was lower in severe presentations, but the type of haematuria, level of proteinuria and inflammatory syndrome were not correlated with immediate severe forms or with initial renal failure. Haematuria resolved in a mean of 7.7 months and proteinuria in a mean of 3.9 months. None of the children had hypocomplementemia for more than 8 weeks. Acute post-streptococcal glomerulonephritis is endemic among French Polynesians, and they can be considered to be a high-risk population. Despite a high incidence of skin infections, however, the predominance of respiratory infections potentially indicates that French Polynesia is on the way to become a low-incidence area. Systematic detection and treatment of group A Streptococcus should be intensified.
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PMID:Acute post-streptococcal glomerulonephritis in children of French Polynesia: a 3-year retrospective study. 1987 55

Galloway-Mowat Syndrome (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopathy, featuring microcephaly, developmental delay, and early-onset intractable epilepsy. Patients typically show also renal involvement from the onset. We report two siblings with GMS presenting with early-onset, intractable epilepsy and neurological deterioration, later followed by renal impairment. In both patients intractable epilepsy started during the first months of life and included a combination of spasms, focal and myoclonic/atonic seizures, along with psychomotor retardation and dysmorphic features. One of the patient died from fulminating renal failure at age 6 years. The other patient developed only isolated proteinuria from the age 3 years. Our cases differ from 'classic' GMS, as manifested the clinical and laboratory features of renal involvement only some years later the onset of epilepsy and neurological symptoms. Therefore, the diagnosis of GMS should be considered in infants with intractable epilepsy, encephalopathy, and multiple neurological deficits, also in absence of renal manifestations. The literature data about the electroclinical features of epilepsy in GMS are also reviewed.
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PMID:Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 2008 16

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity that may occur in patients receiving anti-vascular endothelial growth factor (VEGF) agents such as bevacizumab and tyrosine kinase inhibitors. Little is known about the characteristics of patients at risk for PRES under anti-VEGF agents. We carried out a comprehensive review of reports documenting the occurrence of PRES in patients receiving anti-VEGF agents. Twenty-six patients are described with a majority of females (73.1%). Almost a third of patients had a past history of hypertension. The most common symptoms included headache, visual disturbance and seizure. A vast majority of patients had hypertension at the diagnosis of PRES, and proteinuria was detectable each time it was investigated. Neurological outcome was favorable in all cases with a symptomatic treatment including blood pressure control. The risk of PRES is increased when blood pressure is poorly controlled and when proteinuria is detectable. The clinical course appears favorable with a symptomatic treatment. PRES is a potentially severe but manageable toxicity of anti-VEGF agents.
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PMID:Posterior reversible encephalopathy syndrome induced by anti-VEGF agents. 2209 Feb 60

We report on an 11-year-old girl who developed steroid-resistant nephrotic syndrome (NS) at the onset of systemic lupus erythematosus (SLE), and clinical and renal histological findings suggested that her NS would be associated with SLE-related podocytopathy. Although initial treatment with intravenous pulse methylprednisolone was ineffective, following treatment with cyclosporine and an angiotensin receptor blocker was effective for her nephrotic proteinuria. She had developed posterior reversible encephalopathy syndrome (PRES), and mycophenolate mofetil (MMF) was started instead of cyclosporine. At present, 45 months after the onset, she is in remission of both NS and SLE. This case indicates that NS associated with SLE-related podocytopathy should be included in the spectrum of glomerulopathy accompanying SLE, also in the pediatric population.
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PMID:A case of steroid-resistant nephrotic syndrome associated with systemic lupus erythematosus. 2218 62

Eclampsia is one of the hypertensive disorders of pregnancy causing considerable maternal morbidity and mortality. It is more common in developing nations, where access to adequate obstetric care is limited to a small population. Eclampsia is clinically characterised by encephalopathy, seizures, headache and cortical blindness and occurs in the setting of pre-eclampsia that comprises hypertension, proteinuria and peripheral oedema. Japanese encephalitis has emerged as a serious neurological disorder in South East Asian countries. In this case report, we highlight the unusual association of eclamptic encephalopathy and Japanese encephalitis in a patient belonging to northern India. This combination of illnesses caused diagnostic difficulty and delayed hospitalisation. A high index of suspicion is required in the endemic zone of Japanese encephalitis if the expected results are lacking in patients with eclampsia.
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PMID:Unusual association of eclamptic encephalopathy and Japanese encephalitis. 2266 22


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