Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000727 (acute abdomen)
 3,084 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three cases of Acute Intermittent Porphyria (AIP) are described. All presented with acute intermittent abdominal pains. One had grand-mal epilepsy as well. Two were diagnosed by chance. In the third case the diagnosis was thought of. It is suggested that AIP should always be considered as one of the differential diagnosis in Acute Abdomen in West Africa.
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PMID:Acute intermittent [corrected] porphyria. An often forgotten diagnosis in acute abdomen. 139 Mar 79

Angiomyolipoma is an uncommon benign tumor of the kidney. The tumor is composed of fat, smooth muscle, and blood vessels. The same pathological entity can appear in two clinically different forms, with or without tuberous sclerosis. We present two cases of renal angiomyolipomas with unusual manifestations. One was associated with tuberous sclerosis and both had the presentation of acute abdomen. Case one presented with epilepsy, angiofibroma, subungual fibroma, periventricular calcification, and bilateral renal angiomyolipomas. Tuberous sclerosis is characterized by these findings. Both cases had spontaneous hemorrhage with hypovolemic shock. Massive hemorrhage resulting in shock is uncommon and the incidence has been estimated to be about 10 per cent. In fact, many angiomyolipomas are clinically occult. The size of the tumor correlates well with the presence or absence of symptoms which include microhematuria, flank pain, hypertension and urinary tract infection. Abdominal CT is the preferred modality for diagnosis of angiomyolipoma. The most important finding is the presence of an intrarenal tumor with fat component which is recognized as a relative low density on CT. Our patients were hospitalized under the impression of angiomyolipoma after the CT study. In addition, the CT defined either the size of the tumor or the extension of the hemorrhage. Although many believe that renal angiography is not sufficient by itself to establish the diagnosis of angiomyolipoma, occasionally it is mandatory in the management of the tumor. The management is decided by two factors, the size of tumor and the clinical presentation. The attitude of management should include conservative treatment with regular follow-up, selective arterial embolization, enucleation, and partial or total nephrectomy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Unusual presentations of angiomyolipoma]. 179 71

A multicentre, retrospective study of hereditary deficiency of C1-esterase inhibitor (C1-INH) function, a deficiency which clinically manifests as hereditary angioedema (HAE), was performed in six centres in Germany, Austria and Switzerland. 242 individuals were registered with proven functional or quantitative deficiency of C1-INH who belonged to kindered with disease manifestation in 2 to 6 generations. Considering the total population in the three countries and the number of registered individuals, a frequency of the deficiency of 0.02 x 10(-4) was calculated. As this epidemiological study involved only 6 centres, a 10 to 100 times higher frequency of C1-INH deficiency is estimated to be a more realistic value. Out of the 242 registered individuals 110 were evaluated for type and location of clinical manifestation of the deficiency, the laboratory data and the therapy outcome. 86 (78.2%) of the patients belonged to the "common type" and 24 (21.8%) to the "variant type" of HAE. In 53.9% of the cases first manifestation of the disease was before the age of 20 years. In only 3.9% of the patient population did the disease begin after 40 years of age. A mean time lag of 5,3 years was observed, between the first manifestation and correct diagnosis. Initial diagnosis was correct in only 31.8% of the cases of which dermatologists provided 51.7%. False diagnoses include urticaria (41.3%), allergy (20%), acute abdomen (18.7%), angina (8%), rheumatoid disease (5.3%) and intracranial haemorrhage, CNS tumour, epilepsy, migraine (5.3%). The distribution pattern of HAE resembled that of intolerance reactions and pseudoallergies. Urticarial lesions were not associated with C1-INH deficiency. 24% of the patients had at least one episode of laryngeal edema. 40% of patients were unable to identify a trigger of edema formation. The others indicated as triggers trauma, hormonal changes, mental stress, insect stings and in a few cases food and drugs. Menstruation and oral contraceptives aggravated or made disease manifestations more frequent. In contrast, during pregnancy in many cases clinical manifestations improved and delivery posed no problems. The possibility of HAO is very much suggested by the tailure of edema to respond to classical anti-allergic therapy. Therapy of choice of acute attacks is C1-INH concentrate. No side reactions, antibody formation or virus transmission have been observed. For long term prophylaxis danazol, an attenuated androgen, or tranexamic acid, a protease inhibitor, was chosen. The daily dose of danazol should be kept as low as possible because of its anabolic, anti-estrogenic, anti-gestagenic, and anti-gonadotropic effects. Indeed, adverse reactions were observed in 41.7% of patients receiving danazol. Frequencies of adverse reactions were twice as common in women as in men. Adverse reactions were dose dependent and reversible except for one woman with irreversible deepening of her voice. Measuring C1r is a effective way to assess C1-INH function and monitor therapy.
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PMID:[Hereditary angioedema in the German-speaking region]. 955 33

Sodium valproate is one of the most common first-line antiepileptics prescribed for primary and secondary generalised seizures. However, serious complications associated with sodium valproate, such as acute pancreatitis, need to be considered when choosing this medication for treating epilepsy in certain populations such as children and persons with intellectual disability. We report a case of a 21-year-old man with intellectual disability who presented to the emergency department with an acute abdomen, vomiting and diarrhoea. He had to undergo an emergency exploratory laparotomy during which acute necrotising pancreatitis was diagnosed intra-operatively. We believe that the recent increase in sodium valproate dosage for his epilepsy was the cause of the pancreatitis. Carers of such persons should be adequately informed regarding possible life-threatening complications of medications prescribed to avoid delay in diagnosis and unwanted incidents.
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PMID:Sodium valproate induced necrotising pancreatitis: A case report. 2589 54