Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01185 (vasopressin)
 23,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We tested the hypothesis that the hyponatremia commonly observed in patients with acute hepatic porphyria is mediated by the presence of aminolaevulinic acid (ALA) and (or) porphobilinogen (PBG) at the level of the renal tubule to alter water handling, or at the level of the nervous system to release antidiuretic hormone (ADH). When these substances were infused intravenously into hydropenic dogs, there was no effect on systemic hemodynamics or renal function. Neither ALA or PBG, when infused directly into the renal circulation of water-loaded dogs, could effect a decrease in urinary flow, osmolar clearance, or renal perfusion. Similar results were obtained when these substances were infused directly into the renal circulation of hydropenic dogs. When ALA was administered directly into the carotid artery of nine water-loaded dogs and eight hydropenic dogs, there was again no effect on systemic hemodynamics or renal function. These data suggest that ALA (and PBG) have no effect on the renal excretion of sodium or water, and ALA does not cause the release of ADH. The hyponatremia of porphyria may be related to factors other than the elevated plasma levels of ALA and PBG.
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PMID:Failure of delta-aminolaevulinic acid and porphobilinogen to alter renal salt and water excretion in the dog. 686 Sep 98

Porphyrias are a group of rare disorders caused by enzyme defects in haem biosynthesis pathway. Acute intermittent porphyria is the most common hepatic porphyria. The disorder presents with severe neuropathic abdominal pain that can be accompanied by a wide range of gastrointestinal, psychiatric and neurological symptoms, making the diagnosis clarification very challenging. We report a case of a 27-year-old female patient who presented with acute abdominal pain, vomiting and marked hyponatremia, developed seizures and disorientation, and eventually required intensive care unit treatment to maintain breathing. Her symptoms were initially misinterpreted as a functional gastrointestinal disorder, thus delaying the needed specific treatment. She was diagnosed a week after the initial hospital admission, and her condition improved after receiving treatment with intravenous glucose and haemin. For patients with acute neurovisceral attacks, early clinical recognition is essential. Severe hyponatremia, urine that develops orange colour on exposure to light and gastrointestinal symptom combination with neurologic symptoms are three valuable clues that may lead to the right diagnosis faster. Pathophysiology of hyponatremia in case of acute intermittent porphyria in only partly understood and can be associated with syndrome of inappropriate antidiuretic hormone secretion, gastrointestinal or renal sodium loss.
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PMID:THINK PORPHYRIA: CASE REPORT AND REVIEW OF LITERATURE. 2681 25