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Variegate porphyria presenting with acute autonomic dysfunction, intussusception and renal infarction.

Abstract：

:A 48-year-old man presented with abdominal pain, constipation and irritability one month after starting phenytoin treatment for a generalized seizure. He was hypertensive, tachycardic (BP 174/98, heart rate (HR) 100 bpm supine) and hypovolaemic. Abdominal CT demonstrated transient jejunal intussusception and infarction of the left kidney. Urinary porphobilinogen levels were increased and genetic analysis confirmed the diagnosis of variegate porphyria. Because of ongoing postural hypotension, the patient underwent further autonomic investigations. Levels of blood pressure (MBP), HR and muscle sympathetic activity (MSNA) were increased during the acute attack compared to recovery (131 versus 105 mmHg, 100 versus 60 bpm, 88 versus 26 bursts min(-1)). HR and MSNA did not increase during phase II Valsalva, whereas stroke volume (SV) decays were exaggerated (deltaMBP-56 versus 0-31 mmHg and SV 25% versus 40% baseline). Baroreflex failure causing increased sympathetic activity, decreased sympathetic and parasympathetic rapid responses, loss of splanchnic capacitance and renal salt wasting were the likely mechanisms for postural hypotension. Increased sympathetic activity may also have caused intussusception and focal renal vasoconstriction, both of which may be underdiagnosed causes of abdominal pain in acute porphyria.

journal_name

Scand J Gastroenterol

journal_title

Scandinavian journal of gastroenterology

authors

Griffith JC,Jardine DL,Bailey W,Florkowski CM

doi

10.1080/00365520410008395

subject

Has Abstract

pub_date

2004-05-01 00:00:00

pages

500-3

issue

5

eissn

0036-5521

issn

1502-7708

journal_volume

39

pub_type

杂志文章

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