More on porphyrias

Abstract

Raili Kauppinen,1Kauppinen R Porphyrias.Lancet. 2005; 365: 241-252Summary Full Text Full Text PDF PubMed Scopus (192) Google Scholar in her comprehensive Seminar on porphyrias, states that in acute porphyria “clinical manifestations arise after puberty”. Although generally true, there are exceptions. Hennessy,2Hennessy B Acute intermittent porphyria in childhood.Med J Aust. 1963; 42: 584-586Google Scholar writing about acute intermittent porphyria in childhood, documented 13 case reports up to 1963. One of us (Singh) reported a prepubertal girl with the disease in 1967.3Gupta HL Harjit Singh Prabhaker BR Acute intermittent porphyria in childhood.Ind J Pediatr. 1967; 34: 146-150Crossref Scopus (2) Google Scholar More elaborate descriptions of the disease in childhood continue to appear from time to time.Sandberg and colleagues,4Sandberg S Brun A Skadberg O Iversen I Benestad Y Danielsen OK Acute intermittent porphyria is a difficult diagnosis—especially in children.Tidsskr Nor Laegeforen. 2001; 121: 2822-2825PubMed Google Scholar while reporting the disease in a child in whom there was a gap of 6 years between onset of symptoms and establishing the diagnosis, commented that “It is important to know that acute intermittent porphyria may even occur in children”. Hessels and colleagues5Hessels J Voortman G van der Wagen A van der Elzen C Scheffer H Zuijderhoudt FM Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.J Inherit Metab Dis. 2004; 27: 19-27Crossref PubMed Scopus (25) Google Scholar also documented delay in the diagnosis of acute intermittent porphyria in a 7-year-old boy because the disease is “not a very well documented condition [in children]”, and that “pediatricians should be aware of it”. Thus, clinicians need to be aware that prepubertal presentation of this inherited disorder is possible.We declare that we have no conflict of interest. Raili Kauppinen,1Kauppinen R Porphyrias.Lancet. 2005; 365: 241-252Summary Full Text Full Text PDF PubMed Scopus (192) Google Scholar in her comprehensive Seminar on porphyrias, states that in acute porphyria “clinical manifestations arise after puberty”. Although generally true, there are exceptions. Hennessy,2Hennessy B Acute intermittent porphyria in childhood.Med J Aust. 1963; 42: 584-586Google Scholar writing about acute intermittent porphyria in childhood, documented 13 case reports up to 1963. One of us (Singh) reported a prepubertal girl with the disease in 1967.3Gupta HL Harjit Singh Prabhaker BR Acute intermittent porphyria in childhood.Ind J Pediatr. 1967; 34: 146-150Crossref Scopus (2) Google Scholar More elaborate descriptions of the disease in childhood continue to appear from time to time. Sandberg and colleagues,4Sandberg S Brun A Skadberg O Iversen I Benestad Y Danielsen OK Acute intermittent porphyria is a difficult diagnosis—especially in children.Tidsskr Nor Laegeforen. 2001; 121: 2822-2825PubMed Google Scholar while reporting the disease in a child in whom there was a gap of 6 years between onset of symptoms and establishing the diagnosis, commented that “It is important to know that acute intermittent porphyria may even occur in children”. Hessels and colleagues5Hessels J Voortman G van der Wagen A van der Elzen C Scheffer H Zuijderhoudt FM Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.J Inherit Metab Dis. 2004; 27: 19-27Crossref PubMed Scopus (25) Google Scholar also documented delay in the diagnosis of acute intermittent porphyria in a 7-year-old boy because the disease is “not a very well documented condition [in children]”, and that “pediatricians should be aware of it”. Thus, clinicians need to be aware that prepubertal presentation of this inherited disorder is possible. We declare that we have no conflict of interest.