Porphyria attacks in prepubertal children and adolescents

Porphyrias are inborn errors of heme biosynthesis pathway that result in neurovisceral and/or cutaneous manifestations which occur with episodic attacks, usually accompanied by a multisystemic involvement. Acute hepatic porphyrias include acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and aminolevulinic acid dehydratase deficiency porphyria. Acute hepatic porphyrias may present with symptoms of an affected central, peripheral, and autonomic nervous system and are generally diagnosed in time of an acute neurovisceral attack. In children, clinical picture is more complicated and presents with neurological findings predominantly. First-line investigation should be the urinary porphobilinogen and aminolevulinic acid performance when acute hepatic porphyria is clinically suspected. Comprehensive testing including urine porphyrin separation, fluorescence scanning of diluted plasma at neutral pH, evaluation of fecal porphyrins, and measurement of erythrocyte porphobilinogen deaminase activity is indicated for confirmation or exclusion of the porphyria and define the type of acute hepatic porphyrias. The main aim of the treatment is to decrease aminolevulinic acid, porphobilinogen, and porphyrins by reducing hepatic ALAS1 activity. The first measure should always be the avoidance of any porphyrinogenic drugs. Hemin therapy should not be delayed in the treatment of a severe acute attack. Gonadotropin-releasing hormone analogs and prophylactic hemin protocols can be used for selected cases with more than 4 attacks per year. Givosiran is a promising treatment option for severe cases.

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“…In addition, systemic arterial hypertension has been more announced and difficult to control in children. 12 …”

Section: Clinical Manifestations Of An Acute Hepatic Porphyriamentioning

confidence: 99%

An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

Zübarioğlu

Kıykım

Aktuğlu-Zeybek

2023

Turk Arch Pediatrics

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“…For human bodies, their synthetic sequence leads to the production of haem. However, any abnormality in the haem biosynthetic pathway can give rise to a class of genetic disorders, known as the porphyrias ( Ajmal et al, 2019 ; Fujiwara et al, 2020 ; Jaramillo-Calle et al, 2021 ). The porphyrias are broadly categorized as either acute or non-acute.…”

Section: Introductionmentioning

confidence: 99%

Derivative Matrix-Isopotential Synchronous Spectrofluorimetry and Hantzsch Reaction: A Direct Route to Simultaneous Determination of Urinary δ-Aminolevulinic Acid and Porphobilinogen

et al. 2022

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Early and sensitive detection of δ-aminolevulinic acid (δ-ALA) and porphobilinogen (PBG) is the cornerstone of diagnosis and effective treatment for acute porphyria. However, at present, the quantifying strategies demand multiple solvent extraction steps or chromatographic approaches to separate δ-ALA and PBG prior to quantification. These methods are both time-consuming and laborious. Otherwise, in conventional spectrofluorimetry, the overlapping spectra of the two analytes cause false diagnosis. To overcome this challenge, we present a two-step approach based on derivative matrix-isopotential synchronous fluorescence spectrometry (DMISFS) and the Hantzsch reaction, realizing the simple and simultaneous detection of δ-ALA and PBG in urine samples. The first step is chemical derivatization of the analytes by Hantzsch reaction. The second step is the determination of the target analytes by combining MISFS and the first derivative technique. The proposed approach accomplishes following advantages: 1) The MISFS technique improves the spectral resolution and resolves severe spectral overlap of the analytes, alleviating tedious and complicated pre-separation processes; 2) First derivative technique removes the background interference of δ-ALA on PBG and vice versa, ensuring high sensitivity; 3) Both the analytes can be determined simultaneously via single scanning, enabling rapid detection. The obtained detection limits for δ-ALA and PBG were 0.04 μmol L−1 and 0.3 μmol L−1, respectively. Within-run precisions (intra and inter-day CVs) for both the analytes were <5%. Further, this study would serve to enhance the availability of early and reliable quantitative diagnosis for acute porphyria in both scientific and clinical laboratories.

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Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications

Indika,

Senarathne,

Malvaso

et al. 2023

Mol Neurobiol

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Porphyria attacks in prepubertal children and adolescents

Cited by 3 publications

References 44 publications

An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies

Derivative Matrix-Isopotential Synchronous Spectrofluorimetry and Hantzsch Reaction: A Direct Route to Simultaneous Determination of Urinary δ-Aminolevulinic Acid and Porphobilinogen

Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications

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