Porphyria in Children

Porphyria in Children
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While most cases of porphyria manifest later in life, the disease sometimes affects infants and children. Following is information about the types of porphyria in children, how doctors diagnose them, and ways they can be treated.

What is porphyria?

Porphyria is a group of related genetic disorders that involve the synthesis of heme. Heme is an important component of hemoglobin found in red blood cells. Porphyria occurs when a mutation interferes with one of the steps in the pathway of making heme. This leads to a buildup of porphyrins, the precursors of heme.

Depending on which genetic mutation is present in patients, the porphyrins predominantly affect the skin or nervous system. Porphyrias that affect the skin are called cutaneous porphyrias and they include porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), X-linked protoporphyria (XLP), congenital erythropoietic porphyria (CEP), and hepatoerythropoietic porphyria (HEP).

Porphyrias that mostly affect the nervous system are called acute porphyrias. They usually cause intense symptoms, such as stomach pain, that last for a few days or weeks. These porphyrias include acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALAD porphyria (ADP).

Can children have porphyria?

Porphyria symptoms can be present in children, although they emerge more often in early to mid-adulthood after puberty. Over a 23-year period at the University of Barcelona, Spain, only 21 of the 710 cases of porphyria occurred in children. Of those, the majority involved cutaneous porphyrias, with EPP being the most frequent. Acute porphyrias also can begin in childhood, but are even rarer.

Diagnosing porphyria in children

One way doctors typically diagnose people with porphyria is through urine and stool tests, looking for specific biomarkers related to porphyrins. In several types of porphyria, however, the most common biomarkers usually are not present before children reach puberty. If patients have specific symptoms that present in childhood, such as blistering and eroding skin that could be symptoms of VP, HCP, PCT, or CEP, then biochemical tests should come back positive.

In addition to these diagnostic tests, genetic testing can determine whether a child has mutations that cause porphyria. Genetic testing is much more useful if there is a family history of porphyria as clinicians will know which mutation they should focus on. It is important to note that if a child has a genetic mutation but no symptoms of the disease, it does not mean the disease will develop in adulthood.

Treating porphyria in children

Treatments differ slightly depending on the type of porphyria the child has.

Children with cutaneous porphyrias should avoid sunlight as much as possible. Doctors also may prescribe antimalarial tablets to help reduce porphyrin concentration. Periodic blood draws can reduce the amount of iron in the body.

Children with acute porphyrias should avoid medications or situations that can trigger acute porphyria attacks, such as antiepileptic drugs and stressful situations. When undergoing attacks, patients may be given sugar infusions to help maintain adequate levels of carbohydrates while their symptoms are monitored in the hospital.

 

Last updated: Oct. 27, 2020

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Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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