SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
The case of an adolescent with idiopathic recurrent myoglobinuria is reported. The following features are emphasized: (1) persistence of limb weakness and elevated CK levels between the attacks, (2) a constant myopathic pattern in EMG, and (3) chronic morphologic abnormalities of myopathy in two muscle biopsies. All known causes of myoglobinuria were investigated and ruled out.
The prognosis of myoglobinuria is good even when acute renal failure occurs. We describe two patients who died from acute ventilatory failure due to myopathic involvement of the respiratory muscles. This rare complication of myoglobinuria has a high mortality despite ventilatory support.
A 23-year-old man with recurrent myoglobinuria had low muscle-free carnitine levels and deficient fasting ketogenesis. Urinary organic acid analysis showed large amounts of C6-C14 3-hydroxydicarboxylic acids. Mitochondrial trifunctional protein (TP), harboring long-chain enoyl-coenzyme A (CoA) hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase showed markedly decreased activity in fibroblasts. On immunoblot analysis, the TP content of his fibroblasts was less than 2% that of the control cells. TP deficiency can be a life-threatening disorder with early infantile onset, but it can also present in adolescence with recurrent myoglobinuria.
UNLABELLED: A semi-quantitative test (Rapi-Tex) for myoglobinuria was tested in trauma patients. All test results were evaluated blindly. Test specimens were obtained from 20 patients consecutively admitted with severe multiple trauma (Injury Severity Score: 29; range 26-41). The myoglobin concentration was measured semi-quantitatively by Rapi-Tex of three independent observers and quantitatively by enzyme-immuno-assay (EIA). Undiluted as well as 1:2, 1:6, 1:11, and 1:22 diluted samples were used. Test readings were done after 3 min and 5 min, respectively. The Rapi-Tex test classified the myoglobin concentrations correctly in 92.8% of the readings after 3 min and in 87.5% (mean, range: 85.5-91.6%) of the readings after 5 min. CONCLUSION: Rapi-Tex enables immediate bedside diagnosis of myoglobinuria in trauma patients. The test should be performed on both undiluted and 1:6 diluted urine samples with test reading after 5 min.
Three new cases of carnitine palmityl transferase deficiency are described. The syndrome consists of recurrent attacks of muscle cramps, weakness, malaise, and myoglobinuria. These attacks are especially likely to occur during prolonged exercise after fasting, eating a high-fat diet, or during cold weather. Occasionally after fasting alone, spontaneous muscle breakdown may occur. One patient studied in detail was excessively slow in producing ketones when he fasted. His mylagias and weakness appeared to be alleviated by beta-hydroxybutyrate. Of eight other patients thought to have idiopathic recurrent myoglobinuria, three were found to have myophosphorylase deficiency, whereas five did not have deficiency of either enzyme. Carnitine palmityl transferase deficiency may be more common than previously supposed, may be in part amenable to dietary therapy, can be easily distinguished from myophosphorylase deficiency, and may provide insight into the metabolism of fatty acids and ketone bodies as well as energy requirements of skeletal muscle.
A second episode of myoglobinuric renal failure requiring dialysis developed in a muscular 30-year-old man. His first episode, which was not exercise-related, had occurred in childhood and was accompanied by chills, fever, and leukocytosis, whereas the second followed unaccustomed exertion 15 years later. Despite two occurrences of severe renal failure and intermittent episodes of myoglobinuria, renal function is presently normal. Idiopathic paroxysmal myoglobinuria may produce recurrent life-threatening acute renal failure; however, the prognosis for recovery, as evidenced by this case, appears favorable.
AIMS: To create awareness of adult-onset carnitine palmitoyltransferase II (CPT II) deficiency by describing the clinical, biochemical, and genetic features of three New Zealand patients with this disorder. METHODS: Review of case notes, creatine kinase (CK) values, CPT II assay results, genetic mutation analyses, and the literature. RESULTS: Three patients with CPT II deficiency were encountered by the authors over a 7-year period. Onset of symptoms was between ages 10 and 17 years. Each patient reported exertional myalgia, and had had at least two episodes of myoglobinuria following exertion or infection. Interictal neurological examinations, CK values, and routine muscle histology were normal. CPT II activities ranged from 3.8 to 9.7 pmol/min/mg protein (normal+/-SD=162.9+/-51.0 pmol/min/mg protein). Genetic analysis showed that one patient was homozygous and two were heterozygous for S113L, the common mutation in CPT II deficiency. CONCLUSIONS: CPT II deficiency should be suspected in patients with persistent exertional myalgia who have one or more episodes of myoglobinuria. The diagnosis is confirmed using a combination of enzyme assay and genetic testing.
The Authors report a case of biopsy-proven malignant hyperthermia in a pediatric patient who underwent general anesthesia with halothane and succinylcholine for foot surgery, in whom the presenting symptom was isolated postoperative myoglobinuria. The above syndrome, in the absence of a positive family history, may present itself with a set of minor and atypical symptoms, thus being often underestimate. The need for further investigating all the cases of postoperative myoglobinuria is stressed by the Authors, which also consider muscular biopsy for inclusion among routine investigations. In the case reported here, six months later, a new surgical operation was done safely with spinal anesthesia using hyperbaric bupivacaine.
A 75-year-old female with history of putamenal hemorrhage 8 years earlier was admitted to our hospital with generalized convulsion lasting 40 minutes. Convulsion responded quickly to intravenous administration of diazepam, but deep coma persisted thereafter. Although renal function had normalized before this episode, urinary output was immediately estimated to be limited. Drip-infusion of Ringer's solution and the combined administration of furosemide and mannitol were started. The laboratory values 6 hours after admission demonstrated extremely elevated GOT, GPT, CPK, BUN and Cr levels, suggesting rhabdomyolysis. Urinalysis confirmed myoglobinuria. Despite massive diuretic therapy, renal dysfunction did not improve and she died on hospital day 4. The treatment outcome was probably influenced by her general condition of dehydration and acidosis at admission, as well as muscle damage caused by convulsion. Myoglobinuria can induce life-threatening renal failure, and may be caused by convulsion.
Glycolysis is an important energy productive system. Enzyme abnormalities the in glycolytic pathway, which cause myoglobinuria, are deficiencies of phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase (LDH). Common symptoms of these enzyme abnormalities are muscle cramp, muscle pain, and rhabdomyolysis after strenuous exercise. Acute renal failure owing to myoglobinuria is the most noteworthy symptom. In daily life, symptoms are rarely observed and prognosis is usually good. Correct and fast diagnosis of such latent symptomatic disorders is important to prevent a turn for the worse of these symptoms. LDH M subunit deficiency was first discovered by urinary discoloration and a discrepancy of laboratory data. Since then, only four cases have been reported in the Japanese population. The response to ischemic forearm work is characteristic (an increase of venous lactate concentration after ischemic work is not observed and a marked increase of venous pyruvate is found). The increase of pyruvate concentration is specific in LDH-M subunit deficiency, and is not observed in other abnormalities of the glycolytic pathway. Glycolysis was markedly retarded in the patient's muscle in the glyceraldehyde 3-phosphate dehydrogenase (GA3PD) step, possibly due to the impaired reoxidation of NADH produced by GA3PD activity. Then, the excess NADH is reoxidized by alpha-glycerophosphate dehydrogenase and triose phosphates are drained to alpha-glycerophosphate and glycerol. Therefore ATP production is significantly impaired and muscle tissue is damaged. A genetical study revealed a deletion of 20 base-pairs in exon 6 in LDH-M subunit deficiency. This mutation results in a frame-shift translation and premature termination.
Clinical and experimental studies on the development of myoglobinuria-associated acute renal failure (ARF) were reviewed. ARF developed in 30% of the cases of rhabdomyolysis. Rhabdomyolysis-associated ARF accounted for 5-10% of all ARF. The presence of dehydration or hypotension at the presentation of rhabdomyolysis seems to be a risk factor in the development of rhabdomyolysis-associated ARF. ARF occurred more frequently in the rhabdomyolysis caused by sepsis or burns. Glycerol-induced ARF in rats or rabbits has been studied to investigate the pathogenesis of myoglobinuria-associated ARF. The early decrease in inulin clearance (Cin) in glycerol-induced ARF was dependent upon the decrease in renal blood flow, but the decrease in Cin in the late phase could not be attributed to the decrease in renal blood flow. Diminished glomerular permeability and cast formation might play important roles in the decrease in Cin in the late phase of glycerol-induced ARF.
Twenty patients who had evidence of myoglobinuria were treated with intravenous infusions of mannitol and sodium bicarbonate. Nine patients (group 1) responded with higher urine output, and continued infusion improved renal function; none required dialysis and all survived. Eleven patients (group 2) did not respond to the infusion, and required an average of 5.3 (range, 0 to 11) dialyses; one patient died. There was no significant difference in initial BUN level, creatinine level, BUN/creatinine ratio, or fractional sodium excretion level between the two groups. However, group 2 patients had a significantly higher creatine phosphokinase (CPK) level, serum phosphate level, and hematocrit reading initially than did group 1, indicative of more severe muscle injury and hemoconcentration. These results demonstrate that some patients with myoglobinuria will respond to infusion of mannitol and sodium bicarbonate. This treatment may be effective in altering the clinical course of myoglobinuric acute renal failure.
Myoglobinuria has a variety of causes, ranging from trauma to heavy exercise. Symptoms usually consist of myalgia and muscle weakness; dark, bloody-looking urine may be noted. Myoglobin can be identified by readily available laboratory techniques. Acute renal failure can be a dangerous consequence of myoglobinuria but, with rapid recognition and strict monitoring, the prognosis in most cases is good.
Studies were undertaken to determine whether significant abnormalities were present in cardiac myoglobin in a case of primary paroxysmal myoglobinuria.No qualitative abnormality was found in cardiac myoglobin from a patient with myoglobinuria, compared to normal controls, using urea starch gel electrophoresis. Quantitative analysis, however, revealed depletion of cardiac myoglobin in the patient with myoglobinuria.It is considered that the basic defect in primary paroxysmal myoglobinuria is not related to myoglobin per se, and although evidence is lacking, an autoimmune process, as encountered in some of the hemolytic anemias, may be involved in this condition.
Two cases of myoglobinuria were associated with herpes-group viral infection (herpes simplex and Epstein-Barr). Muscle atrophy and acute renal failure were important complications. No evidence of direct invasion of muscle fibers by virus was found, nor was the severity of myoglobinuria correlated with histologic appearance of muscle.
Myoglobinuria secondary to hypopotassemia was noted in a hypertensive patient treated for a long period with diuretics (chlorthalidone and indapamide). The picture included hypokalemic myopathy, with myoglobinuria, an increase in serum enzymes related by rhabdomyolysis, and flaccid paralysis. In spite of reinstatement management with potassium chloride, hypopotassemia promoted a torsade de pointes, quickly followed by terminal ventricular fibrillation.
In a 11 1/2 year-old boy, acute myolysis with myoglobinuria followed anesthesia and had a favourable outcome. Biological signs of myolysis, without clinical symptoms seem to be frequent after Halothane-succinylcholine anesthesia. They are even more frequent in children, especially when succinylcholine is repeatedly given during Halothane anesthesia. Patient clinical symptoms (visible myoglobinuria, pain and/or paralysis) are rare and occur chiefly in children with chronic muscular disease, in whom they may be the presenting symptoms.
We report a fatal case of Legionnaires' disease associated with myopathy, myoglobinuria, elevated creatine phosphokinase (CPK) level, and pneumonitis. The precise cause of skeletal muscle damage in this patient remains obscure. The association with Legionnaires' disease in this case supports the observation that the Legionnaires' organism has the potential for affecting multiple organ systems, including skeletal muscle. Elevated CPK levels and myoglobinuria in a patient with pneumonitis should suggest the diagnosis of Legionnaires' disease.