Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy

Sykes, R. M.

doi:10.1053/seiz.2000.0473

Cited by 16 publications

(17 citation statements)

References 21 publications

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“…Almost 90% of patients who inherit this disorder remain asymptomatic for lifetime [5]. This could be explained by the fact that the gene responsible for AIP has an incomplete penetrance so that the disease often exists in a latent form (i.e., without clinical or biochemical manifestations) and family history may not be imminent [6].…”

Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria: a test of clinical acumen

Dhital

Basnet

Poudel

et al. 2017

Journal of Community Hospital Internal Medicine Perspectives

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Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care. He improved after infusion of intravenous dextrose. AIP can mimic many common surgical and medical conditions such as appendicitis, cholecystitis, pancreatitis, etc., and may lead to extensive diagnostics or surgical intervention if missed. Diagnosis of AIP requires high clinical suspicion. It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis and treatment can prevent recurrent episodes and can potentially be lifesaving.Abbreviations: AIP: Acute intermittent porphyria; ALA: Aminolevulinic acid; PBG: Porphobilinogen

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Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria: a test of clinical acumen

Dhital

Basnet

Poudel

et al. 2017

Journal of Community Hospital Internal Medicine Perspectives

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“…44 In addition, predictive experimental systems, especially cultures of chick embryo liver cells, have proved very sensitive but often do not reflect clinical situations. 44,46,47 Some like the antifungal agent griseofulvin may be active porphyrogens in experimental systems or when taken orally but this may not be relevant when prescribed for external dermatological use, although best avoided. Well established websites and publications have now evolved from clinical practice over the last few decades to provide advice to clinicians concerning those drugs that are contra-indicated for patients with suspected underlying predisposition to acute porphyric attacks (see Table 2 legend for examples).…”

Section: Triggering Agents For Porphyriasmentioning

confidence: 99%

Complicity of haem in some adverse drug-reactions

Vágány

Smith

2015

Toxicol. Res.

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Adverse drug reactions are often idiosyncratic responses to administered medicines or herbal remedies that may be the consequence of multiple interactions between physiological and genetic factors with drug target and off-target effects. Identification and resolution of the mechanisms of these factors for individuals can prove problematic. Genetic variants or acquired fluctuations in the activity of the haem metabolism enzymes are well established predisposition factors in some known clinical hepatic disorders.Some of these disorders of nonerythroid haem supply can be triggered by drugs, hormones and other agents that normally have no untoward effects. Thus these mutations affecting the activity of the enzymes in the haem pathway can be regarded as predisposing genetic factors causing adverse reactions of some drugs in susceptible individuals. Carriers may be non-symptomatic for a prolonged period until the combination of factors such as consumption of medicinal products, alcohol, stress, hormone fluctuations and change in dietary habits trigger clinical symptoms. Despite these inherited or acquired changes of the haem metabolic pathway, many carriers do not develop symptoms illustrating the involvement of other unknown genetic components. In addition, haem is of fundamental cellular importance not only for respiratory cytochromes and oxygen transport but for many other roles such as for cytochrome P450, NO signalling, and microRNA formation. For these reasons, nonerythroid haem synthesis is under complex transcriptional and translational regulation linked to age, nutrition and circadian rhythm and to hormonal, drug and stress responses. Besides those already known, interference and genetic differences in the flux of supply, recruitment and use of haem for such fundamental processes may contribute to adverse drug reactions in metabolic arenas that are not yet recognised.

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“…3 AIP has been reported in a young boy in a similar setting to ours, which had also been precipitated by phenobarbitone. 4 In developing countries, phenobarbitone is widely prescribed Although an increased contact between human and the (grey) squirrel was reported in Britain, Wyatt 1 concluded that no complications are to be expected after a squirrel bite and that no prophylactic antibiotics seem to be necessary. In the USA, squirrels have been implicated in the carriage and transmission of certain diseases, notably rickettsial disease and tularemia.…”

Section: Referencesmentioning

confidence: 99%

“…2,3 Two cases of severe disease were described from Nigeria, where a pyrexial illness associated with skin manifestations developed four to five days after a ground squirrel bite. 4 In Ghana, the ground squirrels are hunted for their meat and people seem to be aware of the serious risks of a bite. In the last three years, five patients presented at our district hospital with severe illness, which developed after a squirrel bite.…”

Section: Referencesmentioning

confidence: 99%

“…3 AIP has been reported in a young boy in a similar setting to ours, which had also been precipitated by phenobarbitone. 4 In developing countries, phenobarbitone is widely prescribed Case Series and Case Reports derivative neurotoxin. 6 It blocks the sodium conductance and neuronal transmission in the skeletal muscle, and thus all the toxicity is secondary to blockage of action potential.…”

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confidence: 99%

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