Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 45-year-old man with end-stage renal disease due to polycystic kidney disease was admitted to the hospital because of recurrent abdominal pain, progressive peripheral motor neuron neuropathy, and respiratory failure. The diagnosis of acute intermittent porphyria was confirmed by an elevated porphyrin concentration in the urine and the presence of an R167Q mutation in the porphobilinogen deaminase gene. Use of hydroxyzine, weight loss, and/or a mild upper respiratory viral infection might have been the provoking factor of the acute intermittent porphyria. Treatment with intravenous hemin (3 mg/kg) and a high-carbohydrate diet (3000 kcal/d) had no clinical effect. Tetraplegia and chronic respiratory insufficiency developed, and the patient needed a pacemaker because of a symptomatic sinus bradycardia due to autonomic dysfunction. The patient died 10 months after the first manifestation of acute intermittent porphyria.
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PMID:Acute intermittent porphyria as a cause of respiratory failure: case report. 1925 9

Acute intermittent porphyria (AIP) is an inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase in the haem biosynthesis. It manifests with occasional neurovisceral crises due to overproduction of porphyrin precursors such as aminolaevulinic acid (ALA) which is released from the liver to the circulation. The majority of the acute attacks manifest as a combination of abdominal pain, mild mental symptoms and autonomic dysfunction mainly due to vagal insufficiency. However, both acute peripheral neuropathy and encephalopathy may develop if an acute attack proceeds especially due to administration of porphyrinogenic drugs. Acute porphyric neuropathy is predominantly motor and associates with a history of abdominal pain and dysautonomia, CNS involvement and mild hepatopathy. Other features include preservation of achilles reflexes while global hyporeflexia and neuropathic or myalgic pain. The pathogenesis of porphyric neuropathy is complex but overproduction of ALA via direct neurotoxicity, oxidative damage, and modification of glutamatergic release may initiate the neuronal damage. Acute encephalopathy manifests as a combination of mental symptoms, seizures, SIADH, but rarely focal CNS deficits. Posterior reversible encephalopathy syndrome (PRES), which has been found in patients' MRI during an acute attack with severe encephalopathy, could explain the pathogenesis of encephalopathy and seizures in AIP. Neurological manifestations are unspecific and careful interpretation of abnormal excretion of porphyrin precursors should be done before the symptoms can be related to inherited acute porphyrias and not to secondary porphyrinuria. Currently the prognosis of neuropathy and encephalopathy in AIP is good even in severe attacks, but physicians should be aware of a potentially fatal outcome of the disease.
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PMID:Neurological manifestations of acute intermittent porphyria. 1926 5

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase gene leads to mitochondrial genomic dysfunction. Herein, we report a 29-year-old Iranian man with abdominal pain, diarrhea, hearing loss, ophthalmoplegia, sensorimotor axonal neuropathy, and elevated muscle enzymes. Magnetic resonance imaging showed leukoencephalopathic changes. Metabolite analysis revealed a very high thymidine concentration in the patient's urine consistent with the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.
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PMID:Mitochondrial neurogastrointestinal encephalomyopathy. 1987 53

We report a case of bilateral iliopsoas hematomas that occurred during postoperative therapy after coronary artery bypass grafting (CABG). An 81-year-old woman receiving anticoagulant and antiplatelet therapies under sedation after CABG developed sudden anemia and went into shock. Abdominal ultrasonography showed a right retroperitoneal hematoma. She improved gradually with conservative treatment. Many patients with an iliopsoas hematoma complain of low-abdominal pain or femoral neuropathy, but such local signs may be absent under sedation. In anticoagulant and antiplatelet therapies under sedation, when the cause of anemia and shock is not clear, we should suspect peritoneal hematoma and examine the peritoneal space.
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PMID:Bilateral iliopsoas hematomas under sedation: a complication of postoperative therapy after coronary artery bypass grafting. 2020 May 88

We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as muscle weakness, severe hyperesthesia, dyshidrosis, and neurogenic bladder associated with autonomic disturbance developed over several days. Intravenous immunoglobulin therapy gave no obvious improvement of her symptoms. Motor and sensory impairment improved slowly without medical treatment, but dysautonomia persisted for a long time. Sural nerve biopsy revealed axonal degeneration of small fibers, involving both myelinated and unmyelinated fibers, which is compatible with the autonomic sensory and motor neuropathy. AASM is very rare in pediatric populations, and there is no report of AASM associated with HPV-B19 infection.
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PMID:Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection. 2039 90

Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a 24-year-old woman with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and motor and sensory neurological deficits due to an attack of acute porphyria. The patient presented to the emergency department with abdominal pain. The results of physical examination and laboratory investigations were normal. Two days after admission, the patient developed seizures as a result of hyponatremia due to SIADH, which, together with the observation of red urine, led to the diagnosis of AIP. Before hematin was available, the patient developed autonomic instability and peripheral neuropathy with muscular weakness. We briefly review the clinical and laboratory features of this syndrome and emphasize the importance of its inclusion in the differential diagnosis of gastrointestinal diseases, hyponatremia and neuropathy. Prompt recognition of this entity and early specific treatment with haem arginate are important to prevent irreversible complications.
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PMID:[Acute intermittent porphyria: a diagnostic dilemma]. 2043 80

Spontaneous retroperitoneal hemorrhage is one of the most serious and often lethal complications of anticoagulation therapy. The clinical symptoms vary from femoral neuropathy to abdominal compartment syndrome or fatal hypovolemic shock. Of these symptoms, abdominal compartment syndrome is the most serious of all, because it leads to anuria, worsening of renal failure, a decrease in cardiac output, respiratory failure, and intestinal ischemia. We report a case of a spontaneous retroperitoneal hemorrhage in a 48-year-old female who had been receiving warfarin and aspirin for her artificial aortic valve. She presented with a sudden onset of lower abdominal pain, dizziness and a palpable abdominal mass after prolonged straining to defecate. Computed tomography demonstrated a huge retroperitoneal hematoma and active bleeding from the right internal iliac artery. After achieving successful bleeding control with transcatheter arterial embolization, surgical decompression of the hematoma was performed for management of the femoral neuropathy and the abdominal compartment syndrome. She recovered without any complications. We suggest that initial hemostasis by transcatheter arterial embolization followed by surgical decompression of hematoma is a safe, effective treatment method for a spontaneous retroperitoneal hemorrhage complicated with intractable pain, femoral neuropathy, or abdominal compartment syndrome.
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PMID:Abdominal compartment syndrome due to spontaneous retroperitoneal hemorrhage in a patient undergoing anticoagulation. 2131 59

The porphyrias are diseases characterised by accumulation of porphyrins and porphyrin precursors owing to enzymatic deficiencies of the haem synthetic pathway. In the acute hepatic porphyrias accumulation of porphyrin precursors, in particular delta-aminolaevulinic acid (ALA), cause dysfunction of the central, peripheral and autonomic nervous systems. This leads to the characteristic clinical findings of abdominal pain, neuropsychiatric symptoms and neuropathy. The exact pathogenic mechanism is not clear but evidence to date suggests both direct toxic effects of ALA and intracellular metabolic derangement contribute to the neurologic disorders. This review explores the mechanisms of neural dysfunction in the acute porphyrias and the resultant clinical features of an acute attack.
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PMID:The neurologic manifestations of the acute porphyrias. 2172 99

Due to stable incidence and improved survival rates, there are an increasing number of patients living with HIV/AIDS in the USA. Although highly effective, current antiretroviral therapies are associated with a variety of side effects. The role side effects play on health outcomes has not been fully examined. The current study assessed the association of medication side effects with (1) self-assessed health status; (2) work productivity and activity impairment; and (3) healthcare resource utilization. Data were from a cross-sectional patient-reported survey fielded in the USA using a dual methodology of Internet and paper questionnaires. A total of 953 patients living with HIV/AIDS who were currently taking a medication for their condition were included in the analyses. The most frequent side effects reported by patients were fatigue (70.72%), diarrhea (62.96%), insomnia (58.97%), dizziness (52.78%), neuropathy (52.68%), joint pain (52.36%), nausea (51.63%), and abdominal pain (50.37%). The presence of each side effect was associated with reduced self-assessed health status, increased productivity loss, increased activity impairment, and increased healthcare resource use. Controlling for CD4 cell counts in regression modeling did little to diminish the impact of side effects. Although not all side effects were associated with all outcomes, every side effect was associated with worse health status, some measure of increased work productivity loss, and/or some measure of increased healthcare resource use. Patients are living longer with HIV and, therefore, spending a greater length of time on treatment. The results of the current study suggest that many of these patients are experiencing a wide array of side effects from these therapies. These side effects have demonstrated a profound association with self-assessed health, work productivity, and healthcare resource use. Improved management of these side effects or development of treatments with a better side effect profile may have a substantial humanistic and economic benefit.
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PMID:The association of HIV/AIDS treatment side effects with health status, work productivity, and resource use. 2229 29

A 67-year-old woman with rheumatoid arthritis (RA; Steinblocker stage IV, class 4) who had RA onset at 34 years of age had anterior thigh pain, femoral neuropathy and lower abdominal pain. Physical examination showed multidirectional limit of motion, and radiographic examination showed destruction of the hip joint. MRI and arthrography indicated a cystic lesion that communicated with the hip joint. The rheumatoid synovial cyst was removed during total hip arthroplasty. The symptoms were relieved, and the mass was reduced in size.
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PMID:Synovial cyst of the hip in a patient with rheumatoid arthritis. 2272 69


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