Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recently observations of rhabdomyolysis in patients treated with tacrolimus have been reported. The authors present a kidney transplant patient who had an epileptic seizures, severe rhabdomyolysis, and acute renal failure. The patient was initially immunosuppressed with tacrolimus and chimeric CD25 monoclonal antibody. After intensive therapy with plasmapheresis, CVVH, and dialysis, the patient completely recovered at 11/2 year his serum creatinine is 1.2 mg/dL.
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PMID:Severe rhabdomyolysis and acute renal failure in a kidney transplant patient treated with tacrolimus and chimaeric CD25 monoclonal antibody. 1511 Jun 40

Three exclusively breastfed term neonates were admitted with lethargy, poor feeding, and oligoanuria. All three babies were severely dehydrated and had a weight loss ranging from 18% to 40%. Serum sodium of more than 180 mEq/l and renal failure were observed in all three. Two had very high creatinine levels of 9.5 mg/dl and 6.7 mg/dl. Both these babies also had multiple seizures. One baby required mechanical ventilation. All three babies showed markedly hyperechoic renal medullary pyramids with speckled foci suggestive of crystal deposition that reversed completely on therapy. Urine showed abundant urate crystals in two and an elevated calcium/creatinine ratio of 1.6 in one. There was no evidence of distal renal tubular acidosis, Bartter syndrome, or high serum calcium. Supersaturation of the ions in a markedly hypertonic renal medulla may have led to crystallization, with resolubilization with hydration and restoration of good urine output. The hypernatremic dehydration was primarily due to lactation failure leading to inadequate fluid intake in the face of ongoing insensible losses. High breast milk sodium may have been a contributory factor in one patient.
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PMID:Reversible renal medullary hyperechogenicity in neonatal hypernatremic dehydration. 1520 35

A 52-year-old man experienced progressive tonic-clonic activity soon after undergoing a myelogram accompanied by an intrathecal injection of Omnipaque. The activity progressed to seizures, hyperthermia, and acidosis. He was intubated, cooled, and treated symptomatically. His creatinine kinase rose to 60,000 IU/L. He eventually recovered completely. This distinct set of clinical signs renders the syndrome easily recognizable. Although this syndrome superficially resembles malignant hyperthermia, the pathophysiology is different. Survival depends on prompt recognition and rapid symptomatic treatment. Treatment with dantrolene sodium is not necessary.
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PMID:Ascending tonic-clonic syndrome secondary to intrathecal Omnipaque. 1526 25

Since 1989, eight new antiepileptic drugs (AEDs) have been licensed for clinical use. Levetiracetam is the latest to be licensed and is used as adjunctive therapy for the treatment of adult patients with partial seizures with or without secondary generalisation that are refractory to other established first-line AEDs. Pharmacokinetic studies of levetiracetam have been conducted in healthy volunteers, in adults, children and elderly patients with epilepsy, and in patients with renal and hepatic impairment. After oral ingestion, levetiracetam is rapidly absorbed, with peak concentration occurring after 1.3 hours, and its bioavailability is >95%. Co-ingestion of food slows the rate but not the extent of absorption. Levetiracetam is not bound to plasma proteins and has a volume of distribution of 0.5-0.7 L/kg. Plasma concentrations increase in proportion to dose over the clinically relevant dose range (500-5000 mg) and there is no evidence of accumulation during multiple administration. Steady-state blood concentrations are achieved within 24-48 hours. The elimination half-life in adult volunteers, adults with epilepsy, children with epilepsy and elderly volunteers is 6-8, 6-8, 5-7 and 10-11 hours, respectively. Approximately 34% of a levetiracetam dose is metabolised and 66% is excreted in urine unmetabolised; however, the metabolism is not hepatic but occurs primarily in blood by hydrolysis. Autoinduction is not a feature. As clearance is renal in nature it is directly dependent on creatinine clearance. Consequently, dosage adjustments are necessary for patients with moderate to severe renal impairment. To date, no clinically relevant pharmacokinetic interactions between AEDs and levetiracetam have been identified. Similarly, levetiracetam does not interact with digoxin, warfarin and the low-dose contraceptive pill; however, adverse pharmacodynamic interactions with carbamazepine and topiramate have been demonstrated. Overall, the pharmacokinetic characteristics of levetiracetam are highly favourable and make its clinical use simple and straightforward.
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PMID:Clinical pharmacokinetics of levetiracetam. 1530 75

Mutations in the calcium-sensing receptor gene (CaSR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcaemia (FBHH), neonatal severe hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemia with hypercalciuria (ADHH). FBHH may have a population prevalence as high as one in 16 000, and ADHH one in 70 000. NSHPT is very rare. The FBHH condition is usually asymptomatic. Parathyroidectomy does not result in normal serum calcium, and no active treatment is indicated. To differentiate FBHH from primary hyperparathyroidism (PHPT), a guideline which includes measurement of serum calcium, intact parathyroid hormone (PTH), magnesium and fasting urinary calcium excretion is proposed. Screening of family members for hypercalcaemia, and occasionally a search for mutations in the CaSR gene, may be required. The NSHPT condition may manifest with hypercalcaemia, (usually) very elevated serum PTH concentration, subperiosteal erosions and fractures. Milder cases may be managed medically, but respiratory failure, extreme hypercalcaemia and failure to thrive are indications for early parathyroidectomy. The ADHH condition may result in asymptomatic hypocalcaemia, but some affected family members have minor symptoms, and a minority experience seizures in infancy which can recur into adulthood. A significant proportion of cases previously reported as idiopathic hypoparathyroidism (IHP) may in fact be due to mutations in the CaSR gene. In a moderately hypocalcaemic patient with no other clearly discernible cause, an elevated urine calcium:creatinine ratio is suggestive of ADHH, as is the presence of a first-degree relative with hypocalcaemia. If treatment with vitamin D analogues is undertaken, serum and urine calcium should be monitored, advice which applies equally to ADHH and IHP.
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PMID:Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. 1558 33

The aim of this cross sectional study was to evaluate bone mineral density (BMD) and serum levels of 25-hydroxy vitamin D (25OHD) in a group of patients taking antiepileptic drugs (AED) for a seizure disorder. Between May-2001 and January-2003, we evaluated 58 patients (40 women/18 men), 34.4+/-6 years old living in Curitiba or in its metropolitan area, on antiepileptic therapy for 2 to 38 years (10 on monotherapy /48 on multiple drugs regime). The group was matched by age, gender, and bone mass index to 29 healthy subjects (20 women/ 9 men); 34.2+/-5.9 years old. Medical history and physical exam were performed on all subjects with particular information sought about fractures and risks factors for osteoporosis. Blood samples were collected for total serum calcium, albumin, phosphorus, creatinine, total alkaline phosphatase, and liver function tests. BMD of the lumbar spine, femur and forearm was determined by dual energy X-ray absorptiometry (DXA, Hologic QDR 1000). Between February and April-2003, other blood samples were collected to measure 25OHD, intact paratohormone (PTH) and calcium. Unemployment and smoking history were more frequent among patients than among controls (p<0.05). Fifteen patients had a fracture history, all of which occurred during a seizure. The BMD of the lumbar spine (0.975+/-0. 13 g/cm2 vs. 1.058+/-0.1 g/cm2; p<0.03) and of the total femur (0.930+/-0.1 g/cm2 vs. 0.988+/-0.12 g/cm2; p<0.02) was lower in patients than in controls. In 63.5% of patients and in 24.1 % of controls a T-score < -1.0 in at least one site was seen. The AED users had higher total alkaline phosphatase and lower 25OHD (p<0.02). No correlations between BMD and 25OHD were found. The use of phenytoin was correlated with a greater incidence of fractures (RR: 2.38). We conclude that patients on chronic use of AED have alterations in bone metabolism characterized in this study by lower BMD of the lumbar spine and total femur and lower serum concentrations of 25OHD.
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PMID:Bone mineral density and serum levels of 25 OH vitamin D in chronic users of antiepileptic drugs. 1560 49

Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine transporter (CRTR) deficiency). The common clinical feature of creatine deficiency syndromes is mental retardation and epilepsy suggesting main involvement of cerebral gray matter. The typical biochemical abnormality of creatine deficiency syndromes is cerebral creatine deficiency, which is demonstrated by in vivo proton magnetic resonance spectroscopy. Measurement of guanidinoacetate in body fluids may discriminate between the GAMT (high concentration), AGAT (low concentration) and CRTR (normal concentration) deficiencies. Further biochemical characteristics include changes in creatine and creatinine concentrations in body fluids. GAMT and AGAT deficiency are treatable by oral creatine supplementation, while patients with CRTR deficiency do not respond to this type of treatment. The creatine deficiency syndromes are underdiagnosed, so their possibility should be considered in all children affected by unexplained mental retardation, seizures and speech delay.
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PMID:Biochemical and clinical characteristics of creatine deficiency syndromes. 1562 59

The clinical syndrome of rhabdomyolysis is caused by injury of skeletal muscles, leading to the release of various intracellular muscle constituents. Rhabdomyolysis occurs frequently but is usually asymptomatic (i.e., lab abnormalities only). However, in more serious cases, severe electrolyte disorders and acute renal failure may occur, leading to life-threatening situations. Rhabdomyolysis can develop in any circumstances where energy demands in muscles exceed the available energy supplies; it accounts for between 2 and 5% of all cases of acute renal failure in the ICU. Frequent causes of severe rhabdomyolysis include crush injuries, prolonged immobilization, seizures, severe infections and drug toxicity. Factors contributing to the development of more severe clinical symptoms include hypovolemia, hyperthermia, electrolyte disorders and the presence of pre-existing (congenital) muscle disorders. The diagnosis is established by elevation of serum muscle enzymes and muscle constituents such as creatinine phosphokinase and myoglobin. Preventive measures include maintenance of normal or high intravascular volume and administration of diuretics (loop diuretics rather than mannitol) once hypervolemia/euvolemia have been achieved. Some evidence suggests that early initiation of renal replacement therapy can help improve outcome. Administration of bicarbonate to induce urinary alkalosis can be considered, but it has not been proven to be effective.
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PMID:Acute renal failure and rhabdomyolysis. 1564 12

This was a retrospective study to assess the clinical profile of children admitted with acute renal failure and to identify factors associated with poor outcome. Fifty-four children (age one month to 12 years) with acute renal failure were studied. Males outnumbered females (38/54; 70%). The leading precipitating causes for renal failure were acute gastro-enteritis (85%), underlying renal pathology (43%), proven sepsis (22%) and suspected sepsis (22%). The main presenting complaints were diarrhoea (86%),oliguria (72%), rapid respiration (37%), oedema (37%), vomiting (19%) and seizures (13%). All patients underwent standard investigations and treatment. Forty-eight per cent of patients required peritoneal dialysis and 15% required ventilation. The overall mortality was 52%. Underlying renal pathology and sepsis both contributed to the high morbidity and mortality. Mortality due to sepsis was 83%; it was 65% in dialysed patients and 100% in those requiring ventilatory support. Biochemical profile of the above patients showed that hyperkalaemia was significantly associated with high mortality (83%) as against 75% in those with hypokalaemia and 33% with normal levels (p<0.001). Patients with hyponatraemia and hypernatraemia similarly had an adverse outcome. Acidosis, seen in 20 patients, had a mortality of 45%. The outcome was poorer in those with high creatinine levels (63%).
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PMID:Clinical profile and outcome of acute renal failure in South Indian children. 1571 79

A highly selected subject group comprising pediatric recipients of liver (n = 36) and small intestine alone (n = 1) or multivisceral graft (n = 2) were converted to sirolimus maintenance therapy for tacrolimus-related side effects (n = 32) or by primary intent (n = 7). Indications were nephrotoxicity (n = 14), primary intent (n = 7), post-transplant lymphoproliferative disorder (n = 6), seizures (n = 4), recurrent acute rejection (n = 2), and cardiomyopathy (n = 1). Thirty subjects (78%) experienced successful conversion, with one subject requiring atorvastatin for hypercholesterolemia and hypertriglyceridemia. Nine subjects (22%) were converted back to tacrolimus for serious adverse events including acute rejection (n = 2), elevated liver function tests (n = 1), severe leucopenia (n = 1), non-compliance (n = 2), recurrent malignancy/death (n = 1), steatohepatitis (n = 1), and thrombocytopenic thrombotic purpura (n = 1). Among subjects with nephrotoxicity, significant benefit was seen only in those subjects with shorter time to rescue after transplantation (n = 8 of 14 subjects). Additional benefits included a significant decrease in mean serum creatinine from pretransplant values for the entire population, and elimination of antihypertensive treatment in all five subjects receiving it prior to conversion. Hemoglobin, serum cholesterol and triglycerides, white cell counts and platelets remained within normal limits for the duration of follow-up (36 month). Conversion from tacrolimus to sirolimus is successful in selected pediatric liver and intestine recipients. Chronic nephrotoxicity may be ameliorated by early conversion. Improvement in renal function and hypertension management, and absence of sirolimus-related adverse events argue for prospective evaluation of regimens in which mTOR inhibitors are used without calcineurin inhibitors in children.
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PMID:Replacing calcineurin inhibitors with mTOR inhibitors in children. 1591 Mar 98


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