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

One of the most frequent precipitating factors for attacks of porphyria is the administration of drugs. Use of drugs with porphyrinogenic potential often worsens the condition and often poses a therapeutic dilemma. A 23-year-old female patient presented to the casualty room with abdominal pain, chest pain and vomiting. Her past medical history was significant with episodes of generalised abdominal pain. The patient was initially treated for her abdominal pain and vomiting. She developed seizures and was treated with diazepam and phenytoin. Based on the positive investigation reports (positive urine porphyrins, elevated urine ALA and positive porphobilinogen) and symptoms, a diagnosis of acute intermittent porphyria (AIP) was done. Before the diagnosis of AIP was made, the patient was treated with drugs which are not considered to be safe in porphyric patients, such as phenytoin, metoclopramide, and diclofenac. The use of these drugs probably contributed to the initial worsening of the patient's clinical condition. After the diagnosis of AIP was made, the patient was treated with safer alternatives; gabapentin as the antiepileptic agent, promethazine as antiemetic, and propanalol as the antihypertensive agent. Withdrawal of the unsafe agents and symptomatic management with the safer alternatives contributed to the recovery of the patient. Along with the case report and the observations made on the various drugs used in the patient, the importance of the various information sources available on the safety potential of these agents is discussed. The observations with the drugs used in our case will be a useful addition to the existing information on the safety of these agents.
 ...
PMID:Drug use in porphyria: a therapeutic dilemma. 1894 96

Neurological complications are important components of an acute attack of porphyria, and early diagnosis and treatment of porphyria could prevent the development of these complications. Pischik et al. investigated the frequency of acute porphyria among patients admitted to neurological wards in Russia. The investigators identified 108 patients with acute polyneuropathy or encephalopathy, along with abdominal pain, back pain and/or dysautonomia. Urine samples were screened for acute porphyria by use of the qualitative Watson-Schwartz test for porphobilinogen and through measurement of coproporphyrin. Twelve patients had acute intermittent porphyria, and 11 had false-positive results. The specificity of the screen would have been improved by omission of the coproporphyrin test. The Watson-Schwartz test is, by itself, unreliable, and any positive test should be confirmed quantitatively. Improved identification of acute porphyria requires heightened clinical awareness and access to urinary porphobilinogen measurement. We suggest that all hospitals that admit acutely ill patients should be able to provide a validated determination of porphobilinogen within 24 h.
 ...
PMID:Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. 1857 20

Most patients with hepatic porphyria exhibit neuropsychiatric symptoms, including abdominal pain, peripheral neuropathy, confusion, insomnia and mental disturbances such as anxiety and depression. Although heme deficiency and accumulation of heme precursors are thought to be responsible for neuropsychiatric manifestations in patients with acute porphyria, the pathogenetic mechanisms remain poorly understood. In the present study, we observed psychiatric behaviors in mice with hepatic porphyria induced by the ingestion of a griseofulvin (GF)-containing diet over a period of 12 weeks. GF ingestion by the mice caused an accumulation of porphyrins in the feces and a decrease in heme in the liver; these effects were observed throughout the entire duration of the experiment, with maximum levels observed after circa 1 week of ingestion of this diet. In addition, the mice developed enlargement of the liver, hepatocyte injury, and cholestasis. Mice with hepatic porphyria manifested an anxiety-like behavior by the long-term treatment (over 5 weeks) in a GF-dose and duration dependent manner. The hepatic porphyria mice also manifested depression-like behaviors by the short-term treatment (3 weeks) of GF2.0, which was reversed by administration of anti-depressant, imipramine. In conclusion, this study for the first time demonstrated psychiatric manifestations in GF-induced hepatic porphyria mice. The present results suggest that model animals could be useful for elucidating the mechanisms underlying psychiatric manifestations in syndromes such as hepatic porphyria and hepatic encephalopathy that are associated with the impairment of hepatic function.
 ...
PMID:Manifestation of psychiatric behaviors in a mouse model of griseofulvin-induced hepatic porphyria. 1904 81

A 22-year-old woman was admitted to intensive care with severe hyponatraemia. She suffered from lower abdominal pain, vomiting and irritability since one week. Physical findings showed euvolemia and an altered mental status with severe agitation and slurred speech. Abdominal examination was painful but there were no signs of peritonitis. Laboratory data were compatible with the diagnosis of syndrome of inappropriate secretion of antidiuretic hormone. Since patient was in a premenstrual phase, recently started to take an oral contraceptive and since no abnormalities were seen on an abdominal CT scan, the presentation was considered suggestive of an acute porphyria attack. A urinary sample indicated markedly increased levels of delta-aminolevulinic acid, porphobilinogen and uroporphyrin. A low activity of the porphobilinogen deaminase enzyme confirmed the diagnosis of acute intermittent porphyria. The present case demonstrates the need for a high level of suspicion in order to diagnose this disorder in unexplained syndrome of inappropriate antidiuretic hormone secretion and prevent life-threatening complications.
 ...
PMID:An unusual cause of syndrome of inappropriate antidiuretic hormone secretion. 1904 8

Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Every porphyria is caused by abnormal function of a separate enzymatic step, resulting in a specific accumulation of haem precursors. Seven porphyrias are the result of a partial enzyme deficiency, and a gain of function mechanism has been characterised in a new porphyria. Acute porphyrias present with acute attacks, typically consisting of severe abdominal pain, nausea, constipation, confusion, and seizure, and can be life-threatening. Cutaneous porphyrias present with either acute painful photosensitivity or skin fragility and blisters. Rare recessive porphyrias usually manifest in early childhood with either severe cutaneous photosensitivity and chronic haemolysis or chronic neurological symptoms with or without photosensitivity. Porphyrias are still underdiagnosed, but when they are suspected, and dependent on clinical presentation, simple first-line tests can be used to establish the diagnosis in all symptomatic patients. Diagnosis is essential to enable specific treatments to be started as soon as possible. Screening of families to identify presymptomatic carriers is crucial to decrease risk of overt disease of acute porphyrias through counselling about avoidance of potential precipitants.
 ...
PMID:Porphyrias. 2022 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.
 ...
PMID:[Acute intermittent porphyria: a diagnostic dilemma]. 2043 80

The porphyrias are inherited disorders of the heme biosynthetic pathway. They are relatively rare and often misdiagnosed; however, acute episodes can be curtailed by early administration of heme arginate. Acute intermittent porphyria is the commonest of acute forms of porphyria. Here, a case is presented of a 23-year-old male with acute intermittent porphyria who came to the emergency clinic with an unexplained abdominal pain. In addition, he exhibited spontaneous hemothorax (two liters of blood accumulated in the chest) as an unusual manifestation of the disease. The most relevant aspects of acute intermittent porphyria are discussed, along with its epidemiology, diagnosis, clinical presentation and treatment. Complexities and diagnostic requirements in making a diagnosis of porphyria are described.
 ...
PMID:[Acute intermittent porphyria presenting as spontaneous hemothorax]. 2043 85

We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain. Porphyrias are caused by decreased enzyme activity in the heme biosynthetic pathway leading to overproduction of heme precursors if demand increases. This can cause symptoms such as abdominal pain, nausea and vomiting, constipation, tachycardia and hypertension. Treatment includes removal of causative factors, administration of carbohydrates or hemin to reduce the production of heme precursors as well as symptomatic treatment.
 ...
PMID:[Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature]. 2051 71

Chronic abdominal pain (CAP) continues to be a diagnostic and therapeutic challenge. It affects about 10% of school-going children and adolescents. Few Indian studies have reported an organic cause in 30%-40% of children with recurrent abdominal pain. In developing countries, parasitic infestations such as giardiasis and ascariasis are an important cause, of recurrent abdominal pain but their frequency has decreased over time. There is a paucity of data from India on the aetiology, epidemiology and management strategies for CAP, and there is no consensus on the clinical approach to this problem. We present a practical approach to CAP in children. The first step is to elicit a detailed history and do a thorough physical examination so as to categorize CAP according to the site of pain (epigastric, periumbilical or left lower quadrant), the predominant symptom associated with pain (dyspepsia, isolated pain or altered bowel habits) and to differentiate the pain as organic or functional based on the characteristics of pain and presence or absence of alarm signs. The second step is to do appropriate investigations, restricted to simple tests when functional pain is suspected (Level I) and more investigations (Level Ia) if there are alarm signs and pain appears to be organic in nature. Invasive investigations such as gastrointestinal endoscopy (Level II) may be reserved for those with possible organic pain. Level III investigations need to be done in a small percentage of children and include EEG, workup for food allergy and porphyria. The third step is management of organic CAP according to the aetiology, while for functional CAP the pharmacological and, rarely, psychological intervention is more difficult but should be done discreetly and tailored to the needs of the child.
 ...
PMID:Chronic abdominal pain in children. 2092 8

Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder' affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme hydroxymethylbilane synthase; without this cytoplasmic enzyme, heme synthesis cannot finish, and the metabolite porphobilinogen accumulates in the cytoplasm. Some additional factors must also be present such as drugs, hormones, dietary changes, infections diseases and surgery that trigger the appearance of symptoms, which include neurological disorders, abdominal pain, constipation, and muscle weakness. We present a perioperative course of a pregnant woman with porphyria in association with hypothyroidism and its anesthetic management.
 ...
PMID:Anesthesia for cesarian section in pregnant woman with acute intermittent porphyria and hypothyroidism--case report. 2242 97


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>