Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bullous systemic lupus erythematosus (BSLE) is an autoimmune blistering disease occurring in patients with systemic lupus erythematosus (SLE). It is a rare disease, especially in children. A 14-year-old girl initially presented with fatigue, generalized vesiculobullous skin lesions, and ulcers over the hard palate and oral mucosa. Clinical investigations revealed hematuria and proteinuria, a high erythrocyte sedimentation rate and titer of antinuclear antibody, and anti-double-stranded DNA. Skin biopsy findings were suggestive of BSLE. A renal biopsy confirmed the features of class V lupus nephritis. Based on the clinical features and investigations, a diagnosis of BSLE with nephritis was made. She received methylprednisolone pulse therapy and hydroxychloroquine; however, it did not alleviate the vesiculobullous eruption, so treatment with dapsone started and resulted in the dramatic disappearance of the lesions. Interruption of dapsone due to hemolysis did not aggravate the bullous disease. During follow-up, she had multiple flare-ups of disease and nephritis without rebound of bullous lesions. BSLE is a rare presentation of SLE in children. Differentiating it from other skin bullous diseases and SLE with blister is important for the correct management. The unusual presentation of this disease may delay the diagnosis and therefore requires a high index of clinical suspicion.
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PMID:Bullous Systemic Lupus Erythematosus and Lupus Nephritis in a Young Girl. 2797 63

Retroperitoneal fibrosis (RPF) is a rare disease characterized by infiltration of inflammatory cells and deposition of thickened fibrous tissues. The present study presents the case of a 53-year-old patient treated for generalized weakness and fatigue for 1 year prior to hospitalization. A cardiac ultrasound revealed pericardial effusion that required pericardiocentesis, during which 1,400 ml serous fluid with the characteristics of an exudate was aspirated. A pericardiectomy was performed due to persistent effusion and histological examination indicated pericardial fibrosis. A thoracic-abdominal computed tomography scan revealed the presence of retroperitoneal fibrosis. The patient was treated with corticosteroids and azathioprine. Follow-up examinations showed a significant reduction in the amount of abdominal fibrous tissue and no increase in pericardial effusion 1 year following the end of treatment. The patient continues to have regular follow-up control examinations with a cardiologist and nephrologist.
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PMID:Retroperitoneal fibrosis and constrictive pericarditis-IgG4 related diseases: A case report. 2858 87

Episodic ataxia type 1 (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue. This rare disease is caused by missense mutations in the KCNA1 gene coding for the neuronal voltage gated potassium channel Kv1.1, which contributes to nerve cell excitability in the cerebellum, hippocampus, cortex and peripheral nervous system. We identified a novel KCNA1 mutation, E283K, in an Italian proband presenting with paroxysmal ataxia and myokymia aggravated by painful contractures and metabolic dysfunctions. The E283K mutation is located in the S3-S4 extracellular linker belonging to the voltage sensor domain of Kv channels. In order to test whether the E283K mutation affects Kv1.1 biophysical properties we transfected HEK293 cells with WT or mutant cDNAs alone or in a 1:1 combination, and recorded relative potassium currents in the whole-cell configuration of patch-clamp. Mutant E283K channels display voltage-dependent activation shifted by 10mV toward positive potentials and kinetics of activation slowed by ~2 fold compared to WT channels. Potassium currents resulting from heteromeric WT/E283K channels show voltage-dependent gating and kinetics of activation intermediate between WT and mutant homomeric channels. Based on homology modeling studies of the mutant E283K, we propose a molecular explanation for the reduced voltage sensitivity and slow channel opening. Overall, our results suggest that the replacement of a negatively charged residue with a positively charged lysine at position 283 in Kv1.1 causes a drop of potassium current that likely accounts for EA-1 symptoms in the heterozygous carrier.
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PMID:A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions. 2866 63

Lewis-Sumner syndrome (LSS) is a rare disease characterized by asymmetrical and multifocal mononeuropathy commonly located in the upper limbs. Some rare cases affecting cranial nerve have been described, but LSS is unknown to affect especially laryngeal nerves. This paper presents the first case of unilateral vocal fold paresis caused by an LSS in a 59-year-old man complaining of dysphonia, breathy voice, and vocal fatigue. Epidemiology, clinical features, diagnosis, and treatment will be described.
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PMID:Lewis-Sumner Syndrome Manifesting as Unilateral Vocal Fold Paresis and Laryngeal Fasciculations. 2878 Oct 97

Large granular lymphocytic (LGL) leukemia is a rare form of low grade leukemia characterized by large cytotoxic T cells or natural killer cells on morphological examination. Immunosuppressive therapy is employed as first-line therapy. Treatment options in refractory cases include the anti-CD52 antibody alemtuzumab and purine analogues. We report a rare case that responded to the anti-CD20 monoclonal antibody rituximab. A 77-year-old female presented with complaints of fatigue, fever, and chills of 3 months' duration. A CBC showed that pancytopenia with an absolute neutrophil count (ANC) was 0. Peripheral blood flow cytometry detected increased number of T cell large granular lymphocytes and T cell receptor rearrangement study detected a clonal T cell population. Bone marrow biopsy showed peripheral T cell lymphoma, most consistent with T-large granulocytic leukemia. The patient was treated with prednisone and oral cyclophosphamide for four months with no response. Thereafter, she received four weekly infusions of rituximab with improvement in her blood counts. A response to rituximab in refractory cases such as ours has been reported and may guide us towards exploring other immune-based therapeutics in this rare disease.
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PMID:Large Granular Lymphocytic Leukemia: A Report of Response to Rituximab. 2880 60

Amyloidosis is a rare disease encompassing the accumulation of abnormal and insoluble amyloids systemically or in specific organs. This is a case of a previously healthy 60-year-old male complaining of fatigue and chest pain who proceeded to rapidly decline in functional status within six months from the onset of these symptoms. Cardiac evaluation demonstrated characteristic changes on EKG and echocardiogram was consistent with cardiac amyloidosis. Muscle and gastrointestinal biopsies confirmed multisystem amyloidosis. Monoclonal kappa light chain was identified by serum electrophoresis and the diagnosis of multiple myeloma was confirmed by bone marrow biopsy. The process of amyloid deposition secondary to multiple myeloma was managed with chemotherapy after the patient was referred to a center specialized in amyloidosis treatment. This case highlights the diagnostic challenges, non-specific signs and symptoms, and treatment dilemmas involved in managing amyloid light-chain cardiac amyloidosis.
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PMID:Cardiac Presentation of Multiple Myeloma with Amyloidosis. 2880 17

Adrenal insufficiency is a rare disease, but is life threatening when overlooked. Addison's disease may be an acquired form of adrenal insufficiency due to the destruction or dysfunction of the adrenal cortex. It affects both glucocorticoid and mineralocorticoid function. Main presenting symptoms of Addison's disease such as fatigue, anorexia, vomiting and convulsion often mimics central nervous system (CNS) infections. We describe a case of Addison's disease who was initially misdiagnosed as a case of meningo-encephalitis subsequently renal tubular acidosis and finally Addison's disease. Addison's disease can remain unrecognized until acute crisis and sometimes it may be misdiagnosed.
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PMID:Addison's Disease: A Diagnostic Dilemma. 2891 26

Thrombocytopenia, ascites, myelofibrosis, renal dysfunction, and organomegaly (TAFRO) syndrome is a newly recognized but rare disease, and its treatment has not yet been established. We reported a 50-year-old woman with TAFRO syndrome diagnosed 2 years after the initial symptoms of a fever, fatigue, epigastric pain, edema, ascites, lymphadenopathy, thrombocytopenia and renal insufficiency. The patient showed refractory ascites and required hemodialysis under corticosteroid mono-therapy for suspected immune-mediated disease but was successfully treated with additive rituximab, resulting in improvement in her laboratory data, the withdrawal of hemodialysis and the disappearance of ascites. This case underscores the therapeutic utility of rituximab in patients with corticosteroid-resistant TAFRO syndrome, even long after the onset of the disease.
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PMID:Remission of Refractory Ascites and Discontinuation of Hemodialysis after Additional Rituximab to Long-term Glucocorticoid Therapy in a Patient with TAFRO Syndrome. 2932 13

Lymphocytic hypothalamitis (LHT) is a rare disease characterized by pituitary dysfunction, autonomic instability, metabolic disturbances, and neuropsychiatric disorders. We report the case of a 30-year-old man found to have LHT that progressed despite treatment with methylprednisolone and intravenous immunoglobulin (IVIG). A literature review was conducted to identify prior studies pertaining to LHT. Our patient presented with several weeks of fatigue, cold intolerance, weight loss, confusion, and headache. Laboratory tests were consistent with panhypopituitarism. Brain magnetic resonance imaging revealed an infiltrative enhancing mass in the area of the hypothalamus, and stereotactic biopsy findings showed reactive inflammatory changes. A course of hormone replacement (levothyroxine), methylprednisolone, and IVIG was initiated. The patient's course was complicated by a fatal tonsillar herniation. Autopsy revealed LHT. The diagnosis and management of autoimmune LHT are challenging. The entity should be considered in the setting of panhypopituitarism with a hypothalamic mass. Differentiating paraneoplastic and nonparaneoplastic hypothalamitis should be established for management and prognosis. Definitive treatment remains unclear; treatment with corticosteroids should be attempted, followed by consideration of other immunosuppressive agents, such as rituximab. If a paraneoplastic syndrome is suspected, management should also be directed toward the primary tumor.
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PMID:Anti-Ma-1 and Anti-Ma-2 Antibodies in Isolated Fatal Hypothalamitis. 2937 98

Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. Patients with milder, later onset of disease often have a delay in diagnosis.Fabry patients may suffer significant neuropathic pain in the extremities (acroparasthesia) but the degree to which musculoskeletal symptoms contribute to total pain and disability is unknown. Here, we present a questionnaire study focusing on joint manifestations and their impact on daily life of patients with Fabry disease.Seventy-seven patients with Fabry disease and age-matched healthy controls (49 female and 28 male) took part in a survey focused on joint problems, pain, disability, and quality of life. Joint pain and swelling were reported by 43% of male and 39% of female Fabry patients. Analysis by age group showed higher prevalence of joint problems and decreased quality of life, in terms of mobility, activity, pain, and anxiety, in Fabry patients younger than 50 years compared to healthy controls. Female Fabry patients had higher fatigue scores compared to control subjects. Fabry patients reported problems with vigorous daily activities and gripping.Musculoskeletal symptoms are common in Fabry patients and contribute to overall pain and decreased quality of life. Awareness of Fabry disease by physicians may be raised to ensure timely diagnosis of this rare disease.
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PMID:The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients. 2938 Feb 58


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