Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 5-year-old boy with acute lymphatic leukemia in remission developed signs of malignant hyperthermia (MH) during general anesthesia for removal of a central venous access port. The anesthetic procedure for implantation of the port 17 months before had been uneventful despite use of the same triggering agents, halothane and succinylcholine. Meanwhile, the patient had received chemotherapy (COALL-03-85). The first sign of MH was masseter spasm following succinylcholine; then tachycardia, acidosis, myoglobinuria, and CPK elevation (8953 IU) appeared. There was only moderate temperature elevation to 37.8 degree C. Rapid improvement and complete recovery occurred after dantrolene i.v. The patient's father was found to have undiagnosed muscle pain and an elevated CPK level. An in vitro contracture test with halothane and caffeine revealed susceptibility to MH and supported the patient's diagnosis and genetic predisposition. Referring to several other cases in the literature concerning MH in patients with lymphomas and leukemias, a possible correlation between the two diseases is discussed. As the MH crisis in our patient was most probably genetic in origin, a common acquired cause such as a viral infection seems less probable. We do not believe the chemotherapy our patient received between the two anesthetics was the cause since about one-half of the patients in the literature had not had chemotherapeutic pretreatment at the time of the MH crisis. We believe that a common genetic predisposition is the most likely link between the two diseases. In any case, patients with leukemias and lymphomas should be monitored very carefully for symptoms of MH.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Malignant hyperthermia in a child with acute lymphatic leukemia]. 186 72

Acute lymphatic leukemia (ALL) represents one of the most frequent malignancies in childhood. Central venous access ports or partly implanted silicone catheters are usually placed for high-dose chemotherapy in these children. We report two patients aged 7 and 3 years with acute lymphoblastic beta-cell leukemia (B-ALL), a less common subtype of ALL, which presented with hyperthermia (38.4 degrees C and 39 degrees C) during anesthesia with isoflurane for implantation of a central venous catheter. The hyperthermic reactions were accompanied by an increase in expired CO2 and acidosis as well as moderate elevation of heart rate and blood pressure. As in both patients the history and preoperative findings did not reveal signs of infection or other causes of fever, the observed alterations were interpreted as symptoms of malignant hyperthermia triggered either by succinylcholine or isoflurane, which were used in both children. In addition, the hyperthermia responded to administration of dantrolene sodium according to dose recommendations for treatment of malignant hyperthermia. In one of the patients, withdrawal of dantrolene during the initial postoperative hours was followed by a recurrent increase in body temperature, which once again could be suppressed by additional dantrolene infusion. According to the literature, malignant hyperthermia has occasionally been described in children with malignancies such as leukemia or Burkitt's lymphoma. Our observations indicate that children with B-ALL may be especially susceptible to malignant hyperthermia. Close monitoring of body temperature and expiratory CO2 are therefore indicated in these children, and dantrolene therapy should be started immediately in case of increased temperature during anesthesia.
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PMID:[Hyperthermic reaction in the perioperative phase in 2 children with acute lymphoblastic leukemia of B-cell type]. 292 70

Chromosome 19 is short but has higher relative density of genes than other chromosomes. Increasing number of the genes coding for proteins implicated in the pathogenesis of various human diseases have been mapped on chromosome 19. Mutations of low density lipoprotein receptor (LDL-R) result in one of the most frequent mendelian inherited disorder-familial hypercholesterolemia. Mutations of insulin receptor (INSR) are causative for rare syndromes of insulin resistance and some of non insulin dependent diabetes mellitus (NIDDM). Erythropoietin receptor (EPOR) mutations are causative for rare primary familial and congenital polycythemias (PFCP). Defects of one of the largest gene in the human genome RYR 1 (ryanodine receptor gene) (> 240 kb in size) accounts for majority of malignant hyperthermia (MH) and central core disease (CCD). All these disorders represent group of receptor diseases. The amplification of GCT trinucleotide repeats in myotonic dystrophy protein kinase (DMPK) gene is causative for myotonic dystrophy (DM) and represents a new class of human gene mutations: trinucleotide repeat mutations. Apolipoprotein E (APOE) locus plays a role in pathogenesis of the late onset familial Alzheimer's disease. Translocation of EA2 gene which encodes two helix-loop-helix (HLH) transcription proteins and its fusion with PBXI or hepatic leukemia factor (HLF) leads to the leukemogenesis in subgroup of ALL. Interestingly adeno-associated virus (AAV), currently widely used as vector for gene therapy has unique capability of specific integration into human chromosome 19q.
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PMID:Human genome--chromosome no. 19. 758 75