Urinary Porphyrin Excretion in Normal Children and Adults

Bloom, Kenneth E.; Zaider, Edith; Morledge, Louis J.; Poh–Fitzpatrick, Maureen B.

doi:10.1016/s0272-6386(12)80117-x

Cited by 25 publications

(15 citation statements)

References 29 publications

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“…The quantitative analysis did not reveal any differences between groups concerning total porphyrin excretion ( Table 2). The total urinary porphyrin concentrations detected here are within the ranges observed in other studies of neonates and pediatric groups (29)(30)(31)(32). Unfortunately, in the Turkish (2).…”

Section: Discussionsupporting

confidence: 84%

Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzene.

Ozalla

Herrero

Ribas-Fitó

et al. 2002

Environ Health Perspect

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The existence of a link between hexachlorobenzene (HCB) and porphyria cutanea tarda has been known for a long time. However, the epidemiologic data on effects on health caused by prenatal exposure have not provided convincing evidence that HCB alters porphyrin metabolism. Our objectives were to analyze urinary porphyrin excretion and HCB in maternal serum and fetal cord blood in neonates born in a village (Flix) near a chlorinated solvent factory, to detect possible adverse effects in urinary porphyrin excretion caused by prenatal exposure, and to assess their relationship with HCB blood levels. We conducted a cross-sectional study in the Porphyria Unit at a tertiary care facility in Barcelona, Spain, and the Pediatric Unit of the Móra d'Ebre Hospital, the reference hospital of the study area. We included in the study all neonates (n = 68) born in Móra d'Ebre Hospital 1997-1999 and their mothers. We obtained 68 urine specimens of singleton neonates on the third day after birth to test for urinary porphyrin excretion. We obtained 52 fetal cord blood and 56 maternal serum samples for HCB analysis. Total urinary porphyrins were quantified using spectrofluorometry. Porphyrin profile was determined by HPLC. Serum HCB was analyzed by gas chromatography coupled with electron capture detection. In total population, median HCB levels were 1.08 ng/mL in cord blood and 3.31 ng/mL in maternal serum. Total urinary porphyrin concentration was 37.87 micromol/mol creatinine. Coproporphyrin I and coproporphyrin III were the major porphyrins excreted. We found no positive relationship between urinary porphyrin excretion and HCB levels. However, we observed an association between maternal smoking and coproporphyrin excretion. Although high environmental levels of HCB are reported in the town of Flix, we found no alteration in urinary porphyrin excretion.

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Section: Discussionsupporting

confidence: 84%

Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzene.

Ozalla

Herrero

Ribas-Fitó

et al. 2002

Environ Health Perspect

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“…Bloom et al measured total urinary porphyrin excretion in three age groups, 0-9, 9-18 and > 18 years old (11). The results provide a limited aid for porphyria diagnosis.…”

Section: Resultsmentioning

confidence: 99%

Age-Dependent Reference Values of Urinary Porphyrins in Children

Minder

Schneider‐Yin²

1996

CCLM

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Summary:To establish age-dependent reference ranges for the 3 major urinary porphyrins, uroporphyrin, coproporphyrin I and coproporphyrin III, concentrations were measured in random urine specimens from 198 children aged 0.5 to 16 and 18 new-borns by HPLC. All three porphyrins displayed unique age-dependencies. The highest coproporphyrin I concentration was observed in the new-born period, which could be explained by a physiologically under-developed excretion system (via bile and faeces) for this particular porphyrin. Coproporphyrin III excretion reached its highest value in children between ages 1 and 2. Of the three porphyrins, coproporphyrin III concentration showed the closest correlation with the total haem synthesis in childhood. A relatively broad concentration range was found for uroporphyrin in all tested age-groups, the highest mean concentration being in the new-born period. Quantification of each individual urinary porphyrin enables the diagnosis of certain disorders which otherwise cannot be achieved by the total porphyrin determination. As an example of the clinical application of these reference ranges, a case of bronze baby syndrome is discussed.

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“…If screening tests are negative and Urinary porphyrin: creatinine ratios are higher in children weighing less than 30 kg or less than 9 years old. 10 The reference range for erythrocytes refers to packed erythrocytes.…”

Section: Discussionmentioning

confidence: 99%

ACP Best Practice No 165: Front line tests for the investigation of suspected porphyria

Deacon¹

2001

Journal of Clinical Pathology

120

110

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The porphyrias are uncommon disorders of haem biosynthesis and their eVective management requires prompt and accurate diagnosis. This article describes methods for the determination of urinary porphobilinogen, urinary and faecal total porphyrins, and total porphyrins in erythrocytes and plasma that are suitable for use in non-specialist laboratories. The selection and interpretation of these methods, and the indications for further, more specialised, investigation are discussed. (J Clin Pathol 2001;54:500-507) Keywords: porphyria; haem biosynthesis; best practice guidelines Although the porphyrias are uncommon disorders of haem biosynthesis, the wide range and variability of their clinical features leads to their inclusion in the diVerential diagnosis of many diseases. Therefore, every acute hospital laboratory needs to have simple, reliable methods for their exclusion and for the identification of those few patients who need more specialised further investigation. Here, we describe methods that are suitable for the initial investigation of patients suspected of having porphyria. Accurate identification of the type of porphyria normally requires more sophisticated methods of analysis. These further investigations, family studies, and the investigation of asymptomatic patients with a past history of porphyria are best entrusted to specialised laboratories with expertise in the porphyrias. and are summarised in table 1. Each type results from partial deficiency of one of the enzymes of haem biosynthesis (fig 1). Accumulation of the substrate of the defective enzyme produces a pattern of accumulation and excess excretion of haem precursors and their derivatives that characterises each disorder (table 2). 3Symptoms that are caused by porphyria are always accompanied by detectable overproduction of haem precursors. Conversely, the absence of evidence for overproduction indicates that any concurrent symptoms are very unlikely to be the result of porphyria. Metabolite concentrations may be normal during remission and in all children and many adults who have inherited an acute porphyria but have never had symptoms (latent porphyria). In these circumstances, enzymatic or DNA analyses are required.

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Urinary Porphyrin Excretion in Normal Children and Adults

Cited by 25 publications

References 29 publications

Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzene.

Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzene.

Age-Dependent Reference Values of Urinary Porphyrins in Children

ACP Best Practice No 165: Front line tests for the investigation of suspected porphyria

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