Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiokeratoma corporis diffusum (Fabry's disease) is an X-linked disorder of glycosphingolipid catabolism. Heterozygous females, although usually asymptomatic, are occasionally as severely afflicted as hemizygous males; recently we identified a heterozygous patient with cardiomyopathy and severe pain in the extremities. In order to elucidate the difference of the clinical features, we analyzed the glycolipid composition of the heart, liver, and kidney obtained from the patient and from a hemizygote. Gas-liquid chromatography revealed that globotriaosylceramide (Gb3) was markedly increased in the heart (32.4 times higher than control) and increased to a lesser extent in the liver and kidney (3.74 and 6.79 times, respectively). The pattern of Gb3 accumulation in the heterozygote, where the highest increases were seen in the heart, was distinct from that in the hemizygote, where elevated levels of Gb3 and Ga2 were found in the kidney. Furthermore, the alpha-galactosidase activity in the heart, liver, and kidney of the heterozygote was 17%, 26%, and 36%, respectively, of normal controls, which correlated well with the accumulation of glycosphingolipid in the heart and with the disease's clinical manifestations. Two other hemizygotic patients, who were identified by low alpha-galactosidase activities, demonstrated the cardiac involvement.
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PMID:Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. 215 88

Fabry's disease is an X-linked disorder of glycolipid catabolism. We have found a symptomatic heterozygous female with cardiomyopathy and severe pain in the extremities. We studied histochemically and biochemically the accumulated glycolipids in spinal and sympathetic ganglia of the patient. Histochemical examination demonstrated the marked glycolipid deposits that have been observed in heterozygous males in these ganglia. Gas-liquid chromatography (GLC) revealed that these accumulated glycolipids were characterized as globotriaosylceramide (Gb3cer) and galabiosylceramide (Ga2cer). In the heterozygous female, the accumulations of Gb3cer in spinal and sympathetic ganglia were, respectively, 34 and 48 times the amount in normal controls. This is the first report on quantitative and qualitative analyses of the accumulated glycolipids in spinal and sympathetic ganglia of a heterozygous carrier female.
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PMID:Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease. 250 Apr 99

Fabry-Anderson's disease or angiokeratoma corporis diffusum (ACD) is an X-linked sphingolipidosis with a systemic character and occurs in 2-5 per million births (1-3). The basic defect is the absence of a lysosomal enzyme x-galactosidase A. This enzyme is necessary for the metabolization of ceramide trihexoside (globotriglycosyl ceramide), a breakdown product of cell membranes (4, 5). Clinically the disease is characterized by cutaneous angiokeratoma's and severe pain in the limbs from the second decade, followed by progressive renal insufficiency and cardiovascular and cerebrovascular damage in the third or fourth decade (6-8). In patients with established ACD, gastrointestinal symptoms have been described incidentally, mainly mild diarrhea (9, 10). We describe a kindred with ACD showing two extraordinary clinical features: (1) Anorexia, weight loss, and diarrhea were the presenting symptoms and antedated limb pain by many years, which has not been described before. (2) The disease was associated with another rare X-linked disorder: hypoplastic amelogenesis imperfecta.
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PMID:Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease). 251 Sep 82

Three cases of X-linked vitamin-resistant rachitism and discovered in adult life are reported. In all 3 cases there were morphological anomalies affecting mainly the limbs which were incurved and reduced stature. In two of the patients the disorder was progressive and presented as pain, walking difficulties, and Looser-Milkman striae. In the third case the hypophosphatemia was asympomatic, but it enabled the early diagnosis of a progressive rachitic disorder in the patient's child; treatment with 1-25 dihydroxycholecalciferol alone caused renewed growth, disappearance of radiological anomalies, and regression of biological disorders. Articular chondrocalcinosis was also present in one of the patients. This could be a coincidence and systematic search for this condition in cases of vitamin-resistant rachitism will be necessary to establish a possible relationship between the two affections.
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PMID:[Vitamin-resistant rachitism related to the X chromosome in adults. A report on three cases, one of whom had associated articular chondrocalcinosis (author's transl)]. 624 39

Fabry disease is an X-linked disorder characterized in childhood by angiokeratoma, corneal opacities, and pain. At age 7 years our patient began experiencing an intermittent intense "burning" sensation within his feet and hands (acroparesthesias). Treatment with aspirin, acetaminophen, acetominophen with codeine, and phenytoin was unsuccessful. Carbamazepine and phenytoin reduced the frequency and duration of painful crises to 3-4 times annually. A treatment plan was developed consisting of a low-dose morphine infusion with increasing dosage until pain was relieved. Over the subsequent 28 months, we have had experienced treating 7 crises with morphine given as 0.06 mg/kg IV push, followed by a continuous infusion of 0.02 mg/kg/hr with amitriptyline 0.25 mg/kg at bedtime. Pain control is immediate, with the infusion gradually tapered after 24 hours.
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PMID:Successful treatment of painful crises of Fabry disease with low dose morphine. 855 70

Erythromelalgia is an acrosyndrome characterized by paroxysmal manifestations associating erythema, local sensations of warmth and pain which improve with exposure to cold. Childhood forms, exceptional and usually primary, are quite severe and particularly resistant to treatment. The search for a causal agent is most often negative and the pathogenesis remains to be determined. We report a case of erythromelalgia observed in a 4-year-old girl, her father and her younger sister. This case was particular due to an association with mercury poisoning. The symptomatology was improved after different therapeutic attempts including Clomipramide and, particularly effective, rerigerating socks (D(r) Comet, CNES, Toulouse). In the literature we were unable to find any case of erythromelalgia related to mercury poisoning. The cases of familial erythromelalgia reported suggest X-linked dominant transmission. Finally, this case demonstrated the difficulties in diagnosing and treating erythromelalgia, especially in the child.
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PMID:[Erythromelalgia: a familial case. Discussion on the role of mercury]. 770 49

A 28-year-old man had complaints of muscle weakness in both his legs and fingers. Moderate degrees of symmetrical atrophy adn weakness of the bilateral lower limbs, moderate degree of muscle atrophy was also noticed distal to the lower one third of the upper thigh. A moderate degree of weakness of the anterior tibial, extensor digitorum and peroneus muscles was also noted. Pes cavus deformity was evident bilaterally. Knee jerk was normal, and Achilles tendon reflex was absent without pathologic reflexes. He could not walk on his heels. Vibratory sensation was severely decreased in the toes, and both touch and pain sensations were slightly decreased on the dorsum of the feet. The median motor nerve conduction velocity was 28.9 m/sec with a prolonged distal latency. An amplitude of M-wave evoked by electrical stimulation of the median nerve 1 mV. No M-wave was obtained from stimulation of the tibial nerve, and no sensory nerve action potentials were elicited from electrical stimulation of the median and sural nerves. Histologic studies of the biopsied sural nerve revealed the occasional presence of internodes with a thin myelin sheath and a decrease in the density of large myelinated fibers. Small and atypical onion-bulbs were occasionally observed by electron microscopy. Based on the neurological examination and nerve conduction study of the family members, a sister, mother and grandmother of the proband were found to be mildly affected without any disability in their daily activities. However, the father and an uncle on the mother's side of the proband were normal. Therefore, we concluded clinically that this family had HMSN type I with autosomal dominant inheritance or X-linked HMSN. In the studies of fluorescence in situ hybridization and restriction fragment length polymorphism of the genomic DNA of the proband, a DNA duplication in chromosome 17p11.2-12 was not observed. A single-strand conformational polymorphism analysis of the genomic DNA encoding connexin32 (Cx32) revealed the abnormal band different from that of the control. A sequence analysis of the genomic DNA obtained by use of the polymerase chain reaction was also performed. It revealed that there was a mutant allele, a cytosine to thymine substitution of the nucleotide position 140, which caused a substitution of leucine for serine at amino acid position 26. The proband's mother was heterozygous for the mutant allele and the normal allele. This type of Cx32 mutation was different from any type of Cx32 mutation reported in the literature. The mutation in this family is located in the first transmembrane portion of Cx32, and may alter the function of Cx32 protein, as well as lead to the functional and structural abnormalities of the myelin sheath at the nodes of Ranvier and Schmidt-Lanterman's incisures, where Cx32 is present. This is the first Japanese X-linked HMSN family showing a new type of mutation of Cx32 gene with clinical findings and a histologic evaluation of the sural nerve.
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PMID:[A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation]. 866 24

A seven-week-old, male chow chow-keeshond cross puppy was presented with acute paraplegia and episcleral hemorrhage. An X-linked, hereditary coagulopathy was suspected and confirmed by clotting factor analysis and necropsy findings of intraspinal hemorrhage. In young, male puppies with acute spinal pain and long-tract signs, intraspinal hematoma secondary to inherited X-linked coagulation factor deficiencies should be considered in the differential diagnosis.
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PMID:Acute paraplegia in a puppy with hemophilia A. 993 26

Spinal-bulbar muscular atrophy (SBMA) is a rare X-linked neuronopathy associated with an abnormal representation of androgen receptors in the nervous system. Standard nerve conduction and histopathological studies have disclosed the involvement of large myelinated sensory fibers in the spinal nerves of SBMA patients. Little is known about the involvement of small sensory neurons and trigeminal nerves. Laser evoked potentials (LEPs) were studied in 6 unrelated patients with SBMA; 5 of these patients also underwent trigeminal reflex recordings, and 3 a sural nerve biopsy. LEPs were markedly abnormal, indicating a dysfunction in pain pathways. Given the sparing of small fibers in the sural nerve specimens, we hypothesize a dysfunction in spinothalamic cells, possibly due to an abnormal representation of the androgen receptors. Except for the jaw-jerk, all the trigeminal reflexes were markedly abnormal. Since the afferents for the jaw-jerk have their cell body within the central nervous system instead of the ganglion, the selective sparing of the jaw-jerk indicates a trigeminal ganglionopathy.
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PMID:Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease). 1063 19

In Fabry disease, an X-linked alpha-galactosidase A deficiency, painful crises and limb paresthesias are possibly linked to thermal exposure. Small nerve fiber function has not yet been tested after cold challenge. In two Fabry patients (15 and 17 years old), their heterozygote mother, their healthy sister, and eight controls, we determined warm and cold perception thresholds at the dorsal foot and the lower medial calf (method of limits, Somedic-Thermotest), before and 1, 5, 10 and 15 min after 30 s immersion of one leg into 5 degrees C water. Discomfort was rated from 0 to 10. At baseline, thermal thresholds of all participants were normal. In contrast to controls, the patients tolerated 30 s cold stimulation only with interruptions. The mother aborted stimulation after 6 s because of pain. The patients and their mother reported intense burning pain and numbness during and after stimulation. After cold exposure, thermal sensation was highly abnormal for 20 min in one and 80 min in the other brother. In controls, thermal thresholds were somewhat elevated after stimulation but normalized within 10.0+/-4.6 min. Discomfort during cold exposure was rated 8-10 by the patients and their mother, but 3-5 by the healthy persons. We assume that glycolipid accumulation in cutaneous and vasa nervorum vessels as well as small nerve axons accounts for skin and small fiber malperfusion during cold induced vasoconstriction. Transitory ischemia initiated burning pain and prolonged small fiber dysfunction.
Pain 2000 Feb
PMID:Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. 1066 42


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