Acute intermittent porphyria in childhood: a population-based study

Hultdin, Johan; Schmauch, A; Wikberg, Agneta; Dahlquist, G; Andersson, Christian X.

doi:10.1080/08035250310003938

Cited by 11 publications

(13 citation statements)

References 9 publications

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“…His younger sister shows normal urinary excretion of haem precursors and a porphobilinogen deaminase activity in an intermediate range (Table 2). This result agrees with the finding that the levels of urinary porphyrin precursors in children are often only slightly elevated or that there is no elevation (Hultdin et al 2003). For such individuals a molecular investigation could help to elucidate the situation (Fig.…”

Section: Discussionsupporting

confidence: 90%

Biochemical compared to molecular diagnosis in acute intermittent porphyria

Groß¹,

Puy

Jacob³

et al. 2006

J of Inher Metab Disea

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The biochemical and the molecular diagnoses of an inherited porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of acute intermittent porphyria were applied to five unrelated patients suffering from acute intermittent porphyria. All patients were shown to be gene carriers of acute intermittent porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient's two children were asymptomatic. His son was shown to be a gene carrier of the father's deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by acute intermittent porphyria.

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Section: Discussionsupporting

confidence: 90%

Biochemical compared to molecular diagnosis in acute intermittent porphyria

Groß¹,

Puy

Jacob³

et al. 2006

J of Inher Metab Disea

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“…Paralysis and respiratory failure are rare but potentially lethal complications, highlighting the need for early diagnosis (Herrick and McColl 2004). Symptoms very rarely develop before puberty, but there exists a few documented cases of AIP in children (Sandberg et al 2001;Elder 1997;Hultin et al 2003).…”

Section: Acute Intermittent Porphyriamentioning

confidence: 99%

Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

et al. 2011

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Objective: The Norwegian Porphyria Centre routinely offers genetic counselling and predictive genetic testing in families diagnosed with porphyria. The aim of this study was to investigate the subjective experiences of adolescents and young adults who were genetically tested for acute intermittent porphyria (AIP) as minors. What were the psychosocial consequences and how were these handled?Methods: Qualitative interviews of ten Norwegians aged 16-21 years were performed and analysed based on interpretive description. All participants were initially predictively tested for AIP as minors, but three had subsequently developed manifest disease.Results: The participants considered early diagnosis and lifestyle moderation advantageous, but finding motivation for precaution was difficult. AIP inflicted few psychosocial challenges and was a small part of the participants' identity, but risk of manifest disease was, nevertheless, a cause for concern for two participants with latent AIP. The participants were content with their present level of knowledge and they felt capable of obtaining relevant information when needed. AIP was experienced as a vague condition, and participants and their relatives attributed a variety of symptoms to the disease. Conclusion and implications:Being genetically tested as a minor was experienced as useful and entailed relatively few adverse psychosocial consequences, although there was a potential for concern. Appropriate and individually tailored genetic counselling and written consent is subsequently advised. What constitutes a suitable age for testing will differ from individual to individual, but these results suggest that parents in collaboration with their children may be suited to decide what age is appropriate.

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“…Hultdin et al reported 61 Swedish children (<18 years) with confirmed HMBS mutations followed prospectively for an average of 2.5 years. Based on their study, approximately 10% of these children (3 boys and 3 girls) developed clinical evidence of an acute attack before age 15 [10]. …”

Section: Reviewmentioning

confidence: 99%

Acute Intermittent Porphyria in children: A case report and review of the literature

Balwani

Singh

Seth

et al. 2016

Molecular Genetics and Metabolism

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Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pediatric cases are male. While acute abdominal pain is the most common presenting symptom in children, seizures are commonly seen and may precede the diagnosis of AIP. As an example, we report a 9 year old developmentally normal pre-pubertal boy who presented with acute abdominal pain, vomiting and constipation followed by hyponatremia, seizures, weakness and neuropathy. After a diagnostic odyssey, his urine porphobilinogen was found to be significantly elevated and genetic testing showed a previously unreported consensus splice-site mutation IVS4-1G>A in the HMBS gene confirming the diagnosis of AIP. Here, we discuss the clinical presentation in this case, and 15 reported pediatric cases since the last review 30 years ago and discuss the differential diagnosis and challenges in making the diagnosis in children. We review the childhood-onset cases reported in the Longitudinal Study of the Porphyrias Consortium. Of these, genetically and biochemically confirmed patients, 11 of 204 (5%) reported onset of attacks in childhood. Most of these patients (91%) reported recurrent attacks following the initial presentation. Thus, AIP should be considered in the differential diagnosis of children presenting with unexplained abdominal pain, seizures, weakness and neuropathy.

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Acute intermittent porphyria in childhood: a population-based study

Cited by 11 publications

References 9 publications

Biochemical compared to molecular diagnosis in acute intermittent porphyria

Biochemical compared to molecular diagnosis in acute intermittent porphyria

Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

Acute Intermittent Porphyria in children: A case report and review of the literature

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